#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
SKI	6497	broad.mit.edu	37	1	2234776	2234776	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:2234776C>T	ENST00000378536.4	+	3	1220	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	383					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S383F(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CGACCCTGGTCCCCCGCAGTG	0.597																																					Ovarian(177;144 1678 13697 20086 27838 40755)	Ovarian(177;144 1678 13697 20086 27838 40755)	uc001aja.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1147-1149)TCC>TTC		v-ski sarcoma viral oncogene homolog							142.0	143.0	143.0					1																	2234776		2203	4300	6503	SO:0001583	missense	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2234776C>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1148C>T	1.37:g.2234776C>T	ENSP00000367797:p.Ser383Phe						p.S383F	NM_003036	NP_003027	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	3	1220	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		383					Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	c.1148C>T	CCDS39.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.221195	0.79464	.	.	ENSG00000157933	ENST00000378536	D	0.96587	-4.06	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.66939	2.045	0.49798	D	0.999829	D	0.71674	0.998	D	0.80764	0.994	D	0.97804	1.0246	10	0.52906	T	0.07	-22.8274	15.6622	0.77197	0.0:1.0:0.0:0.0	.	383	P12755	SKI_HUMAN	F	383	ENSP00000367797:S383F	ENSP00000367797:S383F	S	+	2	0	SKI	2224636	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	7.261000	0.78400	1.999000	0.58509	0.556000	0.70494	TCC		0.597	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		81	181	0	0	0	0.01441	0	81	181				
CROCC	9696	broad.mit.edu	37	1	17292317	17292317	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:17292317T>C	ENST00000375541.5	+	28	4574	c.4505T>C	c.(4504-4506)cTg>cCg	p.L1502P		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.L1502P(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCTCCAGACCTGGACCCGGAG	0.667																																							uc001azt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(4504-4506)CTG>CCG		ciliary rootlet coiled-coil							31.0	35.0	34.0					1																	17292317		2200	4293	6493	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17292317T>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4505T>C	1.37:g.17292317T>C	ENSP00000364691:p.Leu1502Pro					CROCC_uc001azu.2_Missense_Mutation_p.L805P|CROCC_uc001azv.2_5'Flank	p.L1502P	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	28	4574	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1502						Missense_Mutation	SNP	ENST00000375541.5	37	c.4505T>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152690	0.57259	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.55760	0.5	4.27	4.27	0.50696	.	.	.	.	.	T	0.67088	0.2856	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.993	T	0.65199	-0.6226	9	0.30078	T	0.28	.	11.6502	0.51284	0.0:0.0:0.0:1.0	.	805;1502	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	P	1502;1383	ENSP00000364691:L1502P	ENSP00000364691:L1502P	L	+	2	0	CROCC	17164904	0.833000	0.29383	1.000000	0.80357	0.464000	0.32679	4.157000	0.58144	1.692000	0.51112	0.472000	0.43445	CTG		0.667	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		11	35	0	0	0	0.008871	0	11	35				
CNR2	1269	broad.mit.edu	37	1	24201958	24201958	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:24201958C>T	ENST00000374472.4	-	2	311	c.150G>A	c.(148-150)gaG>gaA	p.E50E	CNR2_ENST00000536471.1_Silent_p.E50E	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	50					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.E50E(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CAGCCACGTTCTCCAGGGCAC	0.557																																							uc001bif.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(148-150)GAG>GAA		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						82.0	84.0	84.0					1																	24201958		2203	4300	6503	SO:0001819	synonymous_variant	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201958C>T	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.150G>A	1.37:g.24201958C>T							p.E50E	NM_001841	NP_001832	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	2	277	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	50			Helical; Name=1; (Potential).		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	c.150G>A	CCDS245.1																																																																																				0.557	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		8	83	0	0	0	0.010729	0	8	83				
BAI2	576	broad.mit.edu	37	1	32197007	32197007	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:32197007C>A	ENST00000373658.3	-	29	4115	c.3774G>T	c.(3772-3774)gaG>gaT	p.E1258D	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Missense_Mutation_p.E1225D|BAI2_ENST00000398556.3_Missense_Mutation_p.E1173D|BAI2_ENST00000398538.1_Missense_Mutation_p.E1246D|BAI2_ENST00000257070.4_Missense_Mutation_p.E1225D|BAI2_ENST00000440175.2_Missense_Mutation_p.E867D|BAI2_ENST00000373655.2_Missense_Mutation_p.E1258D|BAI2_ENST00000398542.1_Missense_Mutation_p.E1158D|BAI2_ENST00000398547.1_Missense_Mutation_p.E1191D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1258					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E1258D(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AAGTGTTGACCTCCTTGAACA	0.627																																							uc001btn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(3772-3774)GAG>GAT		brain-specific angiogenesis inhibitor 2							31.0	28.0	29.0					1																	32197007		2202	4298	6500	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32197007C>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3774G>T	1.37:g.32197007C>A	ENSP00000362762:p.Glu1258Asp					BAI2_uc001btm.2_Missense_Mutation_p.E252D|BAI2_uc001btp.1_Missense_Mutation_p.E252D|BAI2_uc010ogn.1_Missense_Mutation_p.E228D|BAI2_uc010ogo.1_Missense_Mutation_p.E867D|BAI2_uc010ogp.1_Missense_Mutation_p.E1191D|BAI2_uc010ogq.1_Missense_Mutation_p.E1225D|BAI2_uc001bto.2_Missense_Mutation_p.E1258D	p.E1258D	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4128	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1258			Cytoplasmic (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.3774G>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	7.170	0.587393	0.13812	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.42900	1.63;1.88;1.04;1.04;2.01;0.96;0.96;1.67;1.07	5.16	1.13	0.20643	.	0.000000	0.41294	D	0.000910	T	0.22704	0.0548	N	0.21373	0.66	0.29692	N	0.840855	B;B;B;B;B;B;B	0.29671	0.254;0.024;0.003;0.014;0.254;0.014;0.014	B;B;B;B;B;B;B	0.32624	0.149;0.018;0.007;0.008;0.149;0.008;0.008	T	0.33007	-0.9885	10	0.02654	T	1	.	9.3083	0.37889	0.0:0.6276:0.0:0.3724	.	1225;1246;867;1173;1258;1258;1246	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	D	1173;1191;1258;1258;1158;1225;1225;867;1246	ENSP00000381564:E1173D;ENSP00000381555:E1191D;ENSP00000362762:E1258D;ENSP00000362759:E1258D;ENSP00000381550:E1158D;ENSP00000257070:E1225D;ENSP00000435397:E1225D;ENSP00000391071:E867D;ENSP00000381548:E1246D	ENSP00000257070:E1225D	E	-	3	2	BAI2	31969594	0.783000	0.28701	1.000000	0.80357	0.988000	0.76386	-0.007000	0.12810	0.288000	0.22398	-0.258000	0.10820	GAG		0.627	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		14	35	1	0	0.000566183	0.00499	0.000618357	14	35				
KANK4	163782	broad.mit.edu	37	1	62740219	62740219	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:62740219G>T	ENST00000371153.4	-	3	935	c.557C>A	c.(556-558)gCc>gAc	p.A186D	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	186	Pro-rich.					cytoplasm (GO:0005737)		p.A186D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGCAGGAGGGGCAGGGGGCCC	0.647																																							uc001dah.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(556-558)GCC>GAC		ankyrin repeat domain 38							29.0	31.0	31.0					1																	62740219		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62740219G>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.557C>A	1.37:g.62740219G>T	ENSP00000360195:p.Ala186Asp					KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.A186D	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	934	-			186			Pro-rich.		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.557C>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	6.308	0.424972	0.11987	.	.	ENSG00000132854	ENST00000371153	T	0.77229	-1.08	4.88	-4.51	0.03483	.	2.439120	0.01844	N	0.035489	T	0.63283	0.2498	L	0.36672	1.1	0.09310	N	1	B	0.21071	0.051	B	0.16722	0.016	T	0.40346	-0.9568	10	0.35671	T	0.21	9.2098	1.4487	0.02370	0.3465:0.2206:0.3103:0.1226	.	186	Q5T7N3	KANK4_HUMAN	D	186	ENSP00000360195:A186D	ENSP00000360195:A186D	A	-	2	0	KANK4	62512807	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.350000	0.07721	-0.600000	0.05790	0.563000	0.77884	GCC		0.647	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		15	22	1	0	5.03518e-11	0.007413	6.60352e-11	15	22				
JAK1	3716	broad.mit.edu	37	1	65307190	65307190	+	Missense_Mutation	SNP	T	T	G	rs187043211	byFrequency	TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:65307190T>G	ENST00000342505.4	-	18	2746	c.2498A>C	c.(2497-2499)aAt>aCt	p.N833T	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	833	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.N833T(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)	AGGCCTCTGATTGGGGTCATA	0.493			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.(2497-2499)AAT>ACT		janus kinase 1							144.0	140.0	142.0					1																	65307190		1967	4164	6131	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.chr1:65307190T>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.2498A>C	1.37:g.65307190T>G	ENSP00000343204:p.Asn833Thr					JAK1_uc009wam.1_Missense_Mutation_p.N821T|JAK1_uc009wal.1_Missense_Mutation_p.N10T	p.N833T	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	18	2747	-			833			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2498A>C	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	8.518	0.868047	0.17250	.	.	ENSG00000162434	ENST00000342505	D	0.82619	-1.63	4.61	3.5	0.40072	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.45776	0.1359	N	0.13168	0.305	0.27428	N	0.954088	B	0.24317	0.101	B	0.25506	0.061	T	0.31166	-0.9953	9	0.11485	T	0.65	-9.4447	6.0167	0.19607	0.1475:0.0813:0.0:0.7712	.	833	P23458	JAK1_HUMAN	T	833	ENSP00000343204:N833T	ENSP00000343204:N833T	N	-	2	0	JAK1	65079778	0.990000	0.36364	1.000000	0.80357	0.981000	0.71138	2.166000	0.42406	2.062000	0.61559	0.455000	0.32223	AAT		0.493	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		5	181	0	0	0	0.000602	0	5	181				
LRRC7	57554	broad.mit.edu	37	1	70226072	70226072	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:70226072C>A	ENST00000035383.5	+	1	215	c.185C>A	c.(184-186)cCc>cAc	p.P62H	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.P67H|LRRC7_ENST00000370958.1_Missense_Mutation_p.P100H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	62						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P62H(1)|p.P100H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAAGAACTACCCAAGGTAACT	0.353																																							uc001dep.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(184-186)CCC>CAC		leucine rich repeat containing 7							66.0	67.0	67.0					1																	70226072		2203	4299	6502	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70226072C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.185C>A	1.37:g.70226072C>A	ENSP00000035383:p.Pro62His					LRRC7_uc001deo.1_Missense_Mutation_p.P100H|LRRC7_uc009wbg.2_5'UTR	p.P62H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			1	215	+			62			LRR 2.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.185C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422176	0.83559	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.60548	1.43;0.18;1.73	5.75	5.75	0.90469	.	0.057224	0.64402	D	0.000001	T	0.79627	0.4478	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.954;1.0	D	0.83522	0.0086	10	0.87932	D	0	.	18.5004	0.90879	0.0:1.0:0.0:0.0	.	62;100	Q96NW7;B1AKT2	LRRC7_HUMAN;.	H	67;100;62;62	ENSP00000309245:P67H;ENSP00000359997:P100H;ENSP00000035383:P62H	ENSP00000035383:P62H	P	+	2	0	LRRC7	69998660	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.818000	0.86416	2.721000	0.93114	0.585000	0.79938	CCC		0.353	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		28	33	1	0	2.80507e-11	0.012213	3.69392e-11	28	33				
BCL10	8915	broad.mit.edu	37	1	85736391	85736391	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:85736391T>C	ENST00000370580.1	-	2	993	c.256A>G	c.(256-258)Att>Gtt	p.I86V		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	86	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I86V(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TCTCGCCGAATAGATTCAACA	0.358			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	NSCLC(34;993 1034 12176 32621 50182)	uc001dkz.2		NA		Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT 		1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(256-258)ATT>GTT		B-cell CLL/lymphoma 10							115.0	117.0	116.0					1																	85736391		2203	4300	6503	SO:0001583	missense	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736391T>C	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.256A>G	1.37:g.85736391T>C	ENSP00000359612:p.Ile86Val						p.I86V	NM_003921	NP_003912	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	3	961	-			86			CARD.		Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	c.256A>G	CCDS704.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156944	0.57259	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.45276	0.9	5.99	4.82	0.62117	DEATH-like (2);Caspase Recruitment (2);	0.056690	0.64402	D	0.000001	T	0.41213	0.1149	L	0.56769	1.78	0.48571	D	0.99967	P	0.49635	0.926	P	0.52856	0.711	T	0.38308	-0.9667	10	0.56958	D	0.05	-18.372	12.6709	0.56866	0.1232:0.0:0.0:0.8768	.	86	O95999	BCL10_HUMAN	V	86	ENSP00000359612:I86V	ENSP00000271015:I86V	I	-	1	0	BCL10	85508979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.679000	0.61649	2.291000	0.77112	0.533000	0.62120	ATT		0.358	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		23	202	0	0	0	0.00333	0	23	202				
IGSF3	3321	broad.mit.edu	37	1	117150688	117150688	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:117150688G>T	ENST00000369486.3	-	5	1863	c.1098C>A	c.(1096-1098)ctC>ctA	p.L366L	IGSF3_ENST00000318837.6_Silent_p.L366L|IGSF3_ENST00000369483.1_Silent_p.L366L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	366	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L366L(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTTCCTGGCGGAGGTGGTAGA	0.537																																							uc001egr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1096-1098)CTC>CTA		immunoglobulin superfamily, member 3 isoform 2							65.0	65.0	65.0					1																	117150688		2203	4297	6500	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117150688G>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1098C>A	1.37:g.117150688G>T						IGSF3_uc001egq.1_Silent_p.L366L|IGSF3_uc001egs.1_Silent_p.L39L	p.L366L	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1803	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	366			Ig-like C2-type 3.|Extracellular (Potential).		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.1098C>A	CCDS30813.1																																																																																				0.537	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		8	138	1	0	5.35267e-07	0.007413	6.29725e-07	8	138				
TBX15	6913	broad.mit.edu	37	1	119467339	119467339	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:119467339G>T	ENST00000369429.3	-	4	632	c.623C>A	c.(622-624)aCc>aAc	p.T208N	TBX15_ENST00000207157.3_Missense_Mutation_p.T102N			Q96SF7	TBX15_HUMAN	T-box 15	208					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T102N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCTCATCCAGGTGTCTCCAGA	0.458																																							uc001ehl.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(304-306)ACC>AAC		T-box 15							169.0	167.0	167.0					1																	119467339		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119467339G>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.623C>A	1.37:g.119467339G>T	ENSP00000358437:p.Thr208Asn						p.T102N	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	4	620	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	208			T-box.		Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.305C>A		.	.	.	.	.	.	.	.	.	.	G	24.9	4.578432	0.86645	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.87491	-2.26;-2.26	5.96	5.96	0.96718	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	L	0.33753	1.03	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.86941	0.2079	10	0.38643	T	0.18	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	208	Q96SF7	TBX15_HUMAN	N	102;208	ENSP00000207157:T102N;ENSP00000358437:T208N	ENSP00000207157:T102N	T	-	2	0	TBX15	119268862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	ACC		0.458	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		76	83	1	0	7.56961e-61	0.01441	1.28844e-60	76	83				
ECM1	1893	broad.mit.edu	37	1	150484952	150484952	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:150484952C>T	ENST00000369047.4	+	8	1333	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.P278L|ECM1_ENST00000369049.4_Missense_Mutation_p.P430L	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	403	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.P403L(1)|p.P430L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTCCTTACCCCAACTATGAC	0.572																																					Melanoma(156;1696 2560 11093 19685)	Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1207-1209)CCC>CTC		extracellular matrix protein 1 isoform 1							118.0	104.0	109.0					1																	150484952		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150484952C>T	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1208C>T	1.37:g.150484952C>T	ENSP00000358043:p.Pro403Leu					ECM1_uc001eut.2_Missense_Mutation_p.P278L|ECM1_uc001euu.2_Missense_Mutation_p.P432L|ECM1_uc001euv.2_Missense_Mutation_p.P430L|ECM1_uc009wlu.2_Missense_Mutation_p.P163L	p.P403L	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	1407	+	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)		403			2 X approximate repeats.|2.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1208C>T	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315591	0.40996	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	D;D;D	0.82526	-1.62;-1.62;-1.62	4.17	4.17	0.49024	.	0.088069	0.43416	D	0.000576	D	0.87091	0.6091	M	0.68952	2.095	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.88376	0.2998	10	0.87932	D	0	-13.4637	12.1542	0.54066	0.0:1.0:0.0:0.0	.	430;403;278;403	Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;ECM1_HUMAN	L	430;403;278	ENSP00000358045:P430L;ENSP00000358043:P403L;ENSP00000271630:P278L	ENSP00000271630:P278L	P	+	2	0	ECM1	148751576	1.000000	0.71417	0.999000	0.59377	0.043000	0.13939	3.538000	0.53597	2.285000	0.76669	0.462000	0.41574	CCC		0.572	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		37	132	0	0	0	0.003755	0	37	132				
PI4KB	5298	broad.mit.edu	37	1	151280153	151280153	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:151280153T>C	ENST00000368873.1	-	4	1247	c.1079A>G	c.(1078-1080)aAc>aGc	p.N360S	PI4KB_ENST00000368875.2_Missense_Mutation_p.N372S|PI4KB_ENST00000368872.1_Missense_Mutation_p.N345S|PI4KB_ENST00000529142.1_Missense_Mutation_p.N28S|PI4KB_ENST00000271657.5_Missense_Mutation_p.N372S|PI4KB_ENST00000368874.4_Missense_Mutation_p.N345S			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	360					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.N372S(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCTTATGGTTGAGCAGGGA	0.587																																					Colon(154;765 1838 9854 28443 37492)	Colon(154;765 1838 9854 28443 37492)	uc001ext.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1078-1080)AAC>AGC		catalytic phosphatidylinositol 4-kinase beta							121.0	109.0	113.0					1																	151280153		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151280153T>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1079A>G	1.37:g.151280153T>C	ENSP00000357867:p.Asn360Ser					PI4KB_uc001exr.2_Missense_Mutation_p.N372S|PI4KB_uc001exs.2_Missense_Mutation_p.N345S|PI4KB_uc001exu.2_Missense_Mutation_p.N345S|PI4KB_uc010pcw.1_Missense_Mutation_p.N28S	p.N360S	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	1494	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		360					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1079A>G		.	.	.	.	.	.	.	.	.	.	T	28.9	4.961942	0.92791	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800;ENST00000489223	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	6.02	6.02	0.97574	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87493	0.6191	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.89177	0.3541	10	0.87932	D	0	-24.9789	15.3687	0.74545	0.0:0.0:0.0:1.0	.	360;345;28	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	S	345;372;372;360;28;345;28;28	ENSP00000357868:N345S;ENSP00000357869:N372S;ENSP00000271657:N372S;ENSP00000357867:N360S;ENSP00000433149:N28S;ENSP00000357866:N345S	ENSP00000271657:N372S	N	-	2	0	PI4KB	149546777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.670000	0.83925	2.311000	0.77944	0.533000	0.62120	AAC		0.587	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		50	78	0	0	0	0.01441	0	50	78				
FLG	2312	broad.mit.edu	37	1	152286049	152286049	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:152286049G>A	ENST00000368799.1	-	3	1348	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	438	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.S438L(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)			TCCGTGGCCTGACACTGATTG	0.587									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1312-1314)TCA>TTA		filaggrin							204.0	201.0	202.0					1																	152286049		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.chr1:152286049G>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.1313C>T	1.37:g.152286049G>A	ENSP00000357789:p.Ser438Leu					uc001ezv.2_RNA	p.S438L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1349	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		438			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1313C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	11.34	1.610335	0.28712	.	.	ENSG00000143631	ENST00000368799	T	0.00808	5.67	2.58	-2.56	0.06268	.	.	.	.	.	T	0.01092	0.0036	M	0.76838	2.35	0.09310	N	1	D	0.67145	0.996	D	0.64877	0.93	T	0.41179	-0.9523	9	0.41790	T	0.15	.	1.9481	0.03361	0.1279:0.3699:0.3144:0.1878	.	438	P20930	FILA_HUMAN	L	438	ENSP00000357789:S438L	ENSP00000357789:S438L	S	-	2	0	FLG	150552673	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.322000	0.08007	-0.539000	0.06273	0.505000	0.49811	TCA		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		128	403	0	0	0	0.01441	0	128	403				
LCE2D	353141	broad.mit.edu	37	1	152636816	152636816	+	Missense_Mutation	SNP	C	C	G	rs544222876		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:152636816C>G	ENST00000368784.1	+	2	290	c.235C>G	c.(235-237)Cgt>Ggt	p.R79G		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	79	Cys-rich.				keratinization (GO:0031424)			p.R79G(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGGCCCCGTCTCTTCCA	0.682																																							uc001fag.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(235-237)CGT>GGT		late cornified envelope 2D							41.0	55.0	50.0					1																	152636816		2194	4285	6479	SO:0001583	missense	353141				keratinization			g.chr1:152636816C>G	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.235C>G	1.37:g.152636816C>G	ENSP00000357773:p.Arg79Gly						p.R79G	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	290	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		79			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.235C>G	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	c	7.853	0.724399	0.15439	.	.	ENSG00000187223	ENST00000368784	T	0.04317	3.65	2.69	-3.81	0.04294	.	.	.	.	.	T	0.01523	0.0049	M	0.68952	2.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47235	-0.9133	9	0.56958	D	0.05	.	0.8115	0.01094	0.334:0.228:0.2918:0.1462	.	79	Q5TA82	LCE2D_HUMAN	G	79	ENSP00000357773:R79G	ENSP00000357773:R79G	R	+	1	0	LCE2D	150903440	0.000000	0.05858	0.001000	0.08648	0.442000	0.32017	0.046000	0.14035	-0.526000	0.06383	0.305000	0.20034	CGT		0.682	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		59	47	0	0	0	0.01441	0	59	47				
BGLAP	632	broad.mit.edu	37	1	156212901	156212901	+	Missense_Mutation	SNP	C	C	T	rs371279016		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:156212901C>T	ENST00000368272.4	+	4	521	c.251C>T	c.(250-252)gCt>gTt	p.A84V	PMF1-BGLAP_ENST00000490491.1_3'UTR|PAQR6_ENST00000492619.1_5'Flank|PMF1-BGLAP_ENST00000368276.4_3'UTR|PMF1-BGLAP_ENST00000320139.5_3'UTR	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein	84	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				bone development (GO:0060348)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cell aging (GO:0007569)|cellular response to growth factor stimulus (GO:0071363)|cellular response to vitamin D (GO:0071305)|odontogenesis (GO:0042476)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of osteoclast differentiation (GO:0045670)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to hydroxyisoflavone (GO:0033594)|response to mechanical stimulus (GO:0009612)|response to testosterone (GO:0033574)|response to vitamin D (GO:0033280)|response to vitamin K (GO:0032571)|response to zinc ion (GO:0010043)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|perikaryon (GO:0043204)|rough endoplasmic reticulum (GO:0005791)	calcium ion binding (GO:0005509)|hydroxyapatite binding (GO:0046848)|structural constituent of bone (GO:0008147)|structural molecule activity (GO:0005198)	p.A84V(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Gallium nitrate(DB05260)|Menadione(DB00170)|Phylloquinone(DB01022)	GACGAGTTGGCTGACCACATC	0.652																																							uc001fnt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GCT>GTT		osteocalcin preproprotein	Phytonadione(DB01022)	C	VAL/ALA,,,,	0,4406		0,0,2203	118.0	115.0	116.0		251,,,,	3.8	0.9	1		116	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3,utr-3,utr-3,utr-3	BGLAP,PMF1-BGLAP	NM_199173.4,NM_001199661.1,NM_001199662.1,NM_001199663.1,NM_001199664.1	64,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,,,	84/101,,,,	156212901	1,13005	2203	4300	6503	SO:0001583	missense	632				bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone	g.chr1:156212901C>T	X04143	CCDS1134.1	1q22	2014-05-13	2008-08-01		ENSG00000242252	ENSG00000242252			1043	protein-coding gene	gene with protein product	"""osteocalcin"""	112260				2785029, 2394711	Standard	NM_199173		Approved	OCN	uc001fnt.3	P02818	OTTHUMG00000014819	ENST00000368272.4:c.251C>T	1.37:g.156212901C>T	ENSP00000357255:p.Ala84Val					BGLAP_uc001fns.1_3'UTR	p.A84V	NM_199173	NP_954642	P02818	OSTCN_HUMAN			4	323	+	Hepatocellular(266;0.158)		84			Gla.		Q5TCK6	Missense_Mutation	SNP	ENST00000368272.4	37	c.251C>T	CCDS1134.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545317	0.86022	0.0	1.16E-4	ENSG00000242252	ENST00000368272	D	0.99418	-5.87	4.79	3.85	0.44370	Gamma-carboxyglutamic acid-rich (GLA) domain (5);	.	.	.	.	D	0.99233	0.9733	M	0.85945	2.785	0.33130	D	0.542969	D	0.63046	0.992	P	0.57502	0.822	D	0.98813	1.0744	9	0.87932	D	0	.	13.7056	0.62636	0.0:0.844:0.1559:0.0	.	84	P02818	OSTCN_HUMAN	V	84	ENSP00000357255:A84V	ENSP00000357255:A84V	A	+	2	0	BGLAP	154479525	0.997000	0.39634	0.913000	0.36048	0.990000	0.78478	4.563000	0.60823	1.191000	0.43056	0.561000	0.74099	GCT		0.652	BGLAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040867.2	NM_199173		4	189	0	0	0	0.000602	0	4	189				
SPTA1	6708	broad.mit.edu	37	1	158597480	158597480	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:158597480C>G	ENST00000368147.4	-	40	5779	c.5599G>C	c.(5599-5601)Gac>Cac	p.D1867H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1867					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D1867H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACAGCAAAGTCATTTTCCAAA	0.398																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5599-5601)GAC>CAC		spectrin, alpha, erythrocytic 1							177.0	160.0	165.0					1																	158597480		1873	4101	5974	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158597480C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5599G>C	1.37:g.158597480C>G	ENSP00000357129:p.Asp1867His						p.D1867H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			40	5798	-	all_hematologic(112;0.0378)		1867			Spectrin 18.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5599G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481039	0.84747	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39406	1.08;1.08	5.55	5.55	0.83447	.	0.000000	0.34046	N	0.004317	T	0.67192	0.2867	M	0.88512	2.96	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.71896	-0.4454	10	0.72032	D	0.01	.	18.2494	0.89997	0.0:1.0:0.0:0.0	.	1867	P02549	SPTA1_HUMAN	H	1867	ENSP00000357130:D1867H;ENSP00000357129:D1867H	ENSP00000357129:D1867H	D	-	1	0	SPTA1	156864104	1.000000	0.71417	0.970000	0.41538	0.886000	0.51366	6.017000	0.70805	2.885000	0.99019	0.655000	0.94253	GAC		0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		104	109	0	0	0	0.01441	0	104	109				
TAGLN2	8407	broad.mit.edu	37	1	159888618	159888619	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:159888618_159888619CC>AA	ENST00000368097.4	-	5	881_882	c.571_572GG>TT	c.(571-573)GGc>TTc	p.G191F	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.G191F|TAGLN2_ENST00000368096.1_Missense_Mutation_p.G212F	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	191					epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)		p.G191F(1)		endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCCGTAGCCAGTCATGCCT	0.545																																							uc001fum.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GGC>TTC		transgelin 2																																				SO:0001583	missense	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159888618_159888619CC>AA	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.571_572delinsAA	1.37:g.159888618_159888619delinsAA	ENSP00000357077:p.Gly191Phe					CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.G191F|TAGLN2_uc001fuo.1_3'UTR	p.G191F	NM_003564	NP_003555	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	621_622	-	all_hematologic(112;0.0597)		191			Calponin-like.		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	DNP	ENST00000368097.4	37	c.571_572GG>TT	CCDS1189.1																																																																																				0.545	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564		55	132	0	0	0	0.004672	0	55	132				
DUSP27	92235	broad.mit.edu	37	1	167097069	167097069	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:167097069C>A	ENST00000361200.2	+	6	2867	c.2701C>A	c.(2701-2703)Cgc>Agc	p.R901S	DUSP27_ENST00000271385.5_Missense_Mutation_p.R901S|DUSP27_ENST00000443333.1_Missense_Mutation_p.R901S|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	901	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R901S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATATTCTTCCCGCAGTAATTC	0.502																																							uc001geb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2701-2703)CGC>AGC		dual specificity phosphatase 27							94.0	83.0	87.0					1																	167097069		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097069C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2701C>A	1.37:g.167097069C>A	ENSP00000354483:p.Arg901Ser						p.R901S	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2701	+			901			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2701C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308660	0.23821	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03441	3.93;3.93;3.93	5.25	4.33	0.51752	.	2.098730	0.01678	N	0.025950	T	0.02119	0.0066	L	0.41236	1.265	0.34890	D	0.745486	B	0.17852	0.024	B	0.14578	0.011	T	0.41893	-0.9483	10	0.32370	T	0.25	-7.7281	14.2182	0.65807	0.0:0.8507:0.1493:0.0	.	901	Q5VZP5	DUS27_HUMAN	S	901	ENSP00000354483:R901S;ENSP00000271385:R901S;ENSP00000404874:R901S	ENSP00000271385:R901S	R	+	1	0	DUSP27	165363693	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	2.208000	0.42797	1.175000	0.42826	0.643000	0.83706	CGC		0.502	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		28	89	1	0	1.45844e-13	0.013726	1.9692e-13	28	89				
TNR	7143	broad.mit.edu	37	1	175336417	175336417	+	Silent	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:175336417A>T	ENST00000367674.2	-	10	2688	c.1980T>A	c.(1978-1980)acT>acA	p.T660T	TNR_ENST00000263525.2_Silent_p.T660T			Q92752	TENR_HUMAN	tenascin R	660	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.T660T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCCATACTCAGTGCCAGGTA	0.483																																							uc001gkp.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1978-1980)ACT>ACA		tenascin R precursor							138.0	118.0	124.0					1																	175336417		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175336417A>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1980T>A	1.37:g.175336417A>T						TNR_uc009wwu.1_Silent_p.T660T	p.T660T	NM_003285	NP_003276	Q92752	TENR_HUMAN			8	2061	-	Renal(580;0.146)		660			Fibronectin type-III 4.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.1980T>A	CCDS1318.1																																																																																				0.483	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		15	95	0	0	0	0.006122	0	15	95				
PLA2G4A	5321	broad.mit.edu	37	1	186823505	186823505	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:186823505T>A	ENST00000367466.3	+	2	171	c.19T>A	c.(19-21)Tac>Aac	p.Y7N	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.Y7N	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	7	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|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 catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.Y7N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TATAGATCCTTACCAGCACAT	0.348																																							uc001gsc.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(19-21)TAC>AAC		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						129.0	131.0	131.0					1																	186823505		2202	4298	6500	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186823505T>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.19T>A	1.37:g.186823505T>A	ENSP00000356436:p.Tyr7Asn					PLA2G4A_uc010pos.1_Missense_Mutation_p.Y7N	p.Y7N	NM_024420	NP_077734	P47712	PA24A_HUMAN			2	224	+			7			C2.|Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.19T>A	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957518	0.53400	.	.	ENSG00000116711	ENST00000367466;ENST00000419192;ENST00000442353	T;T	0.01804	4.77;4.63	5.91	5.91	0.95273	C2 membrane targeting protein (1);	0.505563	0.21968	N	0.066481	T	0.02342	0.0072	L	0.36672	1.1	0.42263	D	0.992021	B;B	0.32425	0.371;0.371	B;B	0.30716	0.119;0.084	T	0.57069	-0.7874	10	0.87932	D	0	-6.682	12.7401	0.57246	0.0:0.0:0.0:1.0	.	7;7	E7EU42;P47712	.;PA24A_HUMAN	N	7	ENSP00000356436:Y7N;ENSP00000406892:Y7N	ENSP00000356436:Y7N	Y	+	1	0	PLA2G4A	185090128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.802000	0.55553	2.254000	0.74563	0.533000	0.62120	TAC		0.348	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		6	45	0	0	0	0.001984	0	6	45				
IGFN1	91156	broad.mit.edu	37	1	201184736	201184736	+	Missense_Mutation	SNP	C	C	T	rs149837907		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:201184736C>T	ENST00000335211.4	+	15	9195	c.9065C>T	c.(9064-9066)cCg>cTg	p.P3022L	IGFN1_ENST00000451870.2_Splice_Site_p.P565L|IGFN1_ENST00000295591.8_Missense_Mutation_p.P182L	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	565						nucleus (GO:0005634)|Z disc (GO:0030018)		p.P3022L(1)|p.P182L(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGGGAAGCCGGTGATAGTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20640	0.001		0.0	False		,,,				2504	0.0						uc001gwc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(544-546)CCG>CTG		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							73.0	69.0	70.0					1																	201184736		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201184736C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9065C>T	1.37:g.201184736C>T	ENSP00000334714:p.Pro3022Leu					IGFN1_uc001gwb.2_RNA	p.P182L	NM_178275	NP_840059					4	1317	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.545C>T	CCDS53455.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.02	3.745666	0.69418	.	.	ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591	T;T;T	0.62105	0.95;0.05;0.95	4.65	2.62	0.31277	.	0.516121	0.18633	N	0.135530	T	0.67988	0.2952	M	0.69823	2.125	0.21841	N	0.999511	D	0.62365	0.991	P	0.60012	0.867	T	0.57464	-0.7807	10	0.48119	T	0.1	.	2.737	0.05243	0.2398:0.4071:0.2608:0.0923	.	3022	F8WAI1	.	L	3022;565;182	ENSP00000334714:P3022L;ENSP00000398386:P565L;ENSP00000295591:P182L	ENSP00000295591:P182L	P	+	2	0	IGFN1	199451359	0.005000	0.15991	0.671000	0.29857	0.617000	0.37484	0.019000	0.13444	0.944000	0.37579	0.561000	0.74099	CCG		0.562	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		19	65	0	0	0	0.007413	0	19	65				
ADORA1	134	broad.mit.edu	37	1	203134690	203134690	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:203134690G>C	ENST00000367236.4	+	3	1564	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	ADORA1_ENST00000337894.4_Missense_Mutation_p.V215L|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.V215L|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	215					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.V215L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CAACAAGAAGGTGTCGGCCTC	0.567																																							uc001gze.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(643-645)GTG>CTG		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						136.0	130.0	132.0					1																	203134690		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134690G>C	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.643G>C	1.37:g.203134690G>C	ENSP00000356205:p.Val215Leu					FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.V215L|ADORA1_uc010pqg.1_Missense_Mutation_p.V147L|ADORA1_uc009xak.1_Missense_Mutation_p.G140A|ADORA1_uc010pqh.1_Missense_Mutation_p.V248L	p.V215L	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	1076	+			215			Cytoplasmic (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.643G>C	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120163	0.37436	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.72394	-0.65;-0.65;-0.65	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.292879	0.37715	N	0.001968	T	0.67031	0.2850	L	0.43598	1.365	0.54753	D	0.999986	B;B;B	0.22480	0.022;0.07;0.0	B;B;B	0.27262	0.032;0.078;0.005	T	0.60885	-0.7174	10	0.27785	T	0.31	-13.5018	19.4035	0.94640	0.0:0.0:1.0:0.0	.	248;147;215	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	L	215	ENSP00000308549:V215L;ENSP00000356205:V215L;ENSP00000338435:V215L	ENSP00000308549:V215L	V	+	1	0	ADORA1	201401313	1.000000	0.71417	0.997000	0.53966	0.820000	0.46376	4.507000	0.60434	2.586000	0.87340	0.561000	0.74099	GTG		0.567	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		26	178	0	0	0	0.012213	0	26	178				
CHIT1	1118	broad.mit.edu	37	1	203194938	203194938	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:203194938G>A	ENST00000367229.1	-	3	150	c.116C>T	c.(115-117)gCt>gTt	p.A39V	CHIT1_ENST00000535569.1_Missense_Mutation_p.A49V|CHIT1_ENST00000255427.3_Missense_Mutation_p.A39V|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	39					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.A39V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGGAAGCGAGCCTCCCCCTG	0.577																																							uc001gzn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(115-117)GCT>GTT		chitotriosidase precursor							116.0	106.0	109.0					1																	203194938		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203194938G>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.116C>T	1.37:g.203194938G>A	ENSP00000356198:p.Ala39Val					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.A49V	p.A39V	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			3	212	-			39					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.116C>T	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451260	0.43531	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.35789	1.29;1.29;1.29	5.12	1.92	0.25849	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.625088	0.14050	N	0.344818	T	0.33731	0.0873	L	0.55213	1.73	0.09310	N	1	B;B	0.28470	0.186;0.213	B;B	0.32393	0.145;0.094	T	0.30822	-0.9965	10	0.59425	D	0.04	-8.6234	8.635	0.33941	0.0836:0.2855:0.631:0.0	.	49;39	G5EA51;Q13231	.;CHIT1_HUMAN	V	39;39;49	ENSP00000356198:A39V;ENSP00000255427:A39V;ENSP00000438078:A49V	ENSP00000255427:A39V	A	-	2	0	CHIT1	201461561	0.217000	0.23597	0.172000	0.22920	0.951000	0.60555	1.080000	0.30779	0.498000	0.27948	0.655000	0.94253	GCT		0.577	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		16	133	0	0	0	0.006122	0	16	133				
KCNH1	3756	broad.mit.edu	37	1	211192154	211192154	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:211192154G>C	ENST00000271751.4	-	6	1030	c.1003C>G	c.(1003-1005)Cca>Gca	p.P335A	KCNH1_ENST00000367007.4_Intron			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	335					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.P335A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTGGTGGTGGAATCTGATCA	0.453																																							uc001hib.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1003-1005)CCA>GCA		potassium voltage-gated channel, subfamily H,							166.0	151.0	156.0					1																	211192154		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192154G>C	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1003C>G	1.37:g.211192154G>C	ENSP00000271751:p.Pro335Ala					KCNH1_uc001hic.2_Intron	p.P335A	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	1173	-			335			Extracellular (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1003C>G	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	g	10.26	1.301387	0.23736	.	.	ENSG00000143473	ENST00000271751	D	0.98666	-5.06	4.23	3.31	0.37934	Ion transport (1);	0.154165	0.42294	D	0.000731	D	0.91365	0.7276	N	0.01824	-0.7	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87385	0.2359	10	0.11794	T	0.64	.	7.2603	0.26199	0.1187:0.0:0.8813:0.0	.	335	O95259	KCNH1_HUMAN	A	335	ENSP00000271751:P335A	ENSP00000271751:P335A	P	-	1	0	KCNH1	209258777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.598000	0.36740	2.349000	0.79799	0.558000	0.71614	CCA		0.453	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		15	259	0	0	0	0.004007	0	15	259				
ESRRG	2104	broad.mit.edu	37	1	216850421	216850421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:216850421G>A	ENST00000408911.3	-	2	622	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	ESRRG_ENST00000361395.2_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.Q162*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000391890.3_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.Q134*	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	157					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q157*(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CACTAACCTTGAATTGTCCTC	0.448																																							uc001hkw.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(469-471)CAA>TAA		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						99.0	87.0	91.0					1																	216850421		2203	4300	6503	SO:0001587	stop_gained	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850421G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.469C>T	1.37:g.216850421G>A	ENSP00000386171:p.Gln157*					ESRRG_uc001hky.1_Nonsense_Mutation_p.Q134*|ESRRG_uc009xdp.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hkz.1_Nonsense_Mutation_p.Q134*|ESRRG_uc010puc.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hla.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hlb.1_Nonsense_Mutation_p.Q134*|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hld.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hkx.1_Nonsense_Mutation_p.Q162*|ESRRG_uc009xdo.1_Nonsense_Mutation_p.Q134*|ESRRG_uc001hle.1_Nonsense_Mutation_p.Q134*	p.Q157*	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	635	-			157			Nuclear receptor.		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Nonsense_Mutation	SNP	ENST00000408911.3	37	c.469C>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	38	6.716657	0.97784	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	.	.	.	6.01	6.01	0.97437	.	0.046654	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	134;134;162;157;134;134;134;134;134;134;134;134;134;134;134	.	ENSP00000346386:Q134X	Q	-	1	0	ESRRG	214917044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CAA		0.448	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		17	92	0	0	0	0.006122	0	17	92				
MARK1	4139	broad.mit.edu	37	1	220791808	220791808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:220791808G>T	ENST00000366917.4	+	8	975	c.709G>T	c.(709-711)Gaa>Taa	p.E237*	MARK1_ENST00000366918.4_Nonsense_Mutation_p.E215*|MARK1_ENST00000402574.1_Nonsense_Mutation_p.E102*					MAP/microtubule affinity-regulating kinase 1									p.E237*(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)		TGATGGGCCTGAAGTGGATGT	0.433																																							uc001hmn.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(709-711)GAA>TAA		MAP/microtubule affinity-regulating kinase 1							85.0	87.0	86.0					1																	220791808		2203	4300	6503	SO:0001587	stop_gained	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791808G>T	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.709G>T	1.37:g.220791808G>T	ENSP00000355884:p.Glu237*					MARK1_uc009xdw.2_Nonsense_Mutation_p.E237*|MARK1_uc010pun.1_Nonsense_Mutation_p.E237*|MARK1_uc001hmm.3_Nonsense_Mutation_p.E215*	p.E237*	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	8	1306	+			237			Protein kinase.			Nonsense_Mutation	SNP	ENST00000366917.4	37	c.709G>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	40	8.420060	0.98803	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	5.74	5.74	0.90152	.	0.107006	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	.	.	.	X	102;215;237	.	ENSP00000355884:E237X	E	+	1	0	MARK1	218858431	1.000000	0.71417	0.431000	0.26735	0.258000	0.26162	9.807000	0.99171	2.709000	0.92574	0.655000	0.94253	GAA		0.433	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			28	40	1	0	7.01153e-11	0.007291	9.12069e-11	28	40				
ZBTB18	10472	broad.mit.edu	37	1	244217323	244217323	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:244217323G>T	ENST00000358704.4	+	2	396	c.247G>T	c.(247-249)Gct>Tct	p.A83S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	74	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A74S(1)									TACAGCCCCCGCTTTCGCTCT	0.463																																							uc001iae.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(220-222)GCT>TCT		zinc finger protein 238 isoform 2							80.0	76.0	78.0					1																	244217323		2203	4300	6503	SO:0001583	missense	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244217323G>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.247G>T	1.37:g.244217323G>T	ENSP00000351539:p.Ala83Ser					ZNF238_uc001iad.3_Missense_Mutation_p.A83S|ZNF238_uc001iaf.1_Missense_Mutation_p.A74S	p.A74S	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	742	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		74			BTB.		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.220G>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335696	0.81801	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.68331	-0.32	4.98	4.98	0.66077	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80586	0.4651	M	0.62209	1.925	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.82707	-0.0324	10	0.72032	D	0.01	.	18.2404	0.89966	0.0:0.0:1.0:0.0	.	83;74;83	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	S	83	ENSP00000351539:A83S	ENSP00000351539:A83S	A	+	1	0	ZNF238	242283946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.315000	0.78130	0.655000	0.94253	GCT		0.463	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		91	70	1	0	8.26238e-36	0.01441	1.33533e-35	91	70				
TFB2M	64216	broad.mit.edu	37	1	246714570	246714570	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:246714570T>C	ENST00000366514.4	-	5	925	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	247					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.Y247C(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TAATACATGATACAAGTCTGG	0.323																																							uc001ibn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(739-741)TAT>TGT		transcription factor B2, mitochondrial							81.0	84.0	83.0					1																	246714570		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246714570T>C	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.740A>G	1.37:g.246714570T>C	ENSP00000355471:p.Tyr247Cys					TFB2M_uc010pys.1_RNA	p.Y247C	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		5	865	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		247					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.740A>G	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494283	0.64186	.	.	ENSG00000162851	ENST00000366514	T	0.39056	1.1	5.19	5.19	0.71726	.	0.215920	0.40818	N	0.001010	T	0.64746	0.2626	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67753	-0.5589	10	0.51188	T	0.08	-17.8648	13.8601	0.63554	0.0:0.0:0.0:1.0	.	247	Q9H5Q4	TFB2M_HUMAN	C	247	ENSP00000355471:Y247C	ENSP00000355471:Y247C	Y	-	2	0	TFB2M	244781193	1.000000	0.71417	0.059000	0.19551	0.009000	0.06853	6.124000	0.71620	1.965000	0.57142	0.459000	0.35465	TAT		0.323	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		22	71	0	0	0	0.00333	0	22	71				
OR2G3	81469	broad.mit.edu	37	1	247769097	247769097	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:247769097C>A	ENST00000320002.2	+	1	242	c.210C>A	c.(208-210)gaC>gaA	p.D70E	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D70E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			CTTTACTGGACATCTGCTTCA	0.438																																							uc010pyz.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(208-210)GAC>GAA		olfactory receptor, family 2, subfamily G,							278.0	262.0	267.0					1																	247769097		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769097C>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.210C>A	1.37:g.247769097C>A	ENSP00000326301:p.Asp70Glu						p.D70E	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	210	+	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)		70			Helical; Name=2; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.210C>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602241	0.46423	.	.	ENSG00000177476	ENST00000320002	T	0.01152	5.26	3.79	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38058	U	0.001826	T	0.03695	0.0105	L	0.60957	1.885	0.09310	N	0.999996	D	0.71674	0.998	D	0.67382	0.951	T	0.18085	-1.0348	10	0.87932	D	0	.	7.9398	0.29952	0.0:0.7794:0.0:0.2206	.	70	Q8NGZ4	OR2G3_HUMAN	E	70	ENSP00000326301:D70E	ENSP00000326301:D70E	D	+	3	2	OR2G3	245835720	0.000000	0.05858	0.997000	0.53966	0.641000	0.38312	-4.298000	0.00257	0.909000	0.36697	0.486000	0.48141	GAC		0.438	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			117	503	1	0	2.21805e-50	0.01441	3.75543e-50	117	503				
OR2M4	26245	broad.mit.edu	37	1	248402862	248402862	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:248402862T>G	ENST00000306687.1	+	1	632	c.632T>G	c.(631-633)gTt>gGt	p.V211G		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	211					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.V211G(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			ATCTTTCCAGTTTCAGTTATC	0.463																																							uc010pzh.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(631-633)GTT>GGT		olfactory receptor, family 2, subfamily M,							119.0	114.0	116.0					1																	248402862		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402862T>G	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.632T>G	1.37:g.248402862T>G	ENSP00000306688:p.Val211Gly						p.V211G	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	632	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		211			Helical; Name=5; (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.632T>G	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	t	7.781	0.709414	0.15239	.	.	ENSG00000171180	ENST00000306687	T	0.38887	1.11	3.34	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.204038	0.24167	N	0.040937	T	0.49167	0.1541	L	0.37750	1.13	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.32640	-0.9899	10	0.87932	D	0	.	8.9129	0.35563	0.0:0.0:0.1889:0.811	.	211	Q96R27	OR2M4_HUMAN	G	211	ENSP00000306688:V211G	ENSP00000306688:V211G	V	+	2	0	OR2M4	246469485	0.000000	0.05858	0.007000	0.13788	0.018000	0.09664	0.054000	0.14205	0.438000	0.26450	0.443000	0.29094	GTT		0.463	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		7	140	0	0	0	0.00308	0	7	140				
OR2T11	127077	broad.mit.edu	37	1	248790027	248790027	+	Missense_Mutation	SNP	G	G	A	rs541947086		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:248790027G>A	ENST00000330803.2	-	1	464	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R135C(2)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			CACTTCTTGCGGTTCATCAGG	0.547													.|||	1	0.000199681	0.0	0.0	5008	,	,		16893	0.0		0.0	False		,,,				2504	0.001						uc001ier.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(1)	1						c.(403-405)CGC>TGC		olfactory receptor, family 2, subfamily T,							48.0	56.0	54.0					1																	248790027		2052	4232	6284	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790027G>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.403C>T	1.37:g.248790027G>A	ENSP00000328934:p.Arg135Cys						p.R135C	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	403	-	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)		135			Cytoplasmic (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.403C>T	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	3.341	-0.134634	0.06711	.	.	ENSG00000183130	ENST00000330803	T	0.25749	1.78	4.38	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.947310	0.08686	N	0.908658	T	0.29914	0.0748	M	0.76727	2.345	0.22511	N	0.999034	B	0.11235	0.004	B	0.04013	0.001	T	0.29427	-1.0012	10	0.52906	T	0.07	.	7.6249	0.28206	0.0889:0.0:0.7475:0.1636	.	135	Q8NH01	O2T11_HUMAN	C	135	ENSP00000328934:R135C	ENSP00000328934:R135C	R	-	1	0	OR2T11	246856650	0.000000	0.05858	0.197000	0.23402	0.094000	0.18550	0.209000	0.17435	0.428000	0.26173	0.650000	0.86243	CGC		0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		5	79	0	0	0	0.000602	0	5	79				
DIP2C	22982	broad.mit.edu	37	10	395293	395293	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:395293G>A	ENST00000280886.6	-	25	3174	c.3087C>T	c.(3085-3087)caC>caT	p.H1029H		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1029						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.H1029H(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAAGGCCACGTGGTCGCCGT	0.647																																							uc001ifp.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.(3085-3087)CAC>CAT		DIP2 disco-interacting protein 2 homolog C							89.0	66.0	74.0					10																	395293		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:395293G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3087C>T	10.37:g.395293G>A						DIP2C_uc009xhi.1_Silent_p.H415H	p.H1029H	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	25	3177	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1029					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.3087C>T	CCDS7054.1																																																																																				0.647	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		25	23	0	0	0	0.00632	0	25	23				
ITIH5	80760	broad.mit.edu	37	10	7618929	7618929	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:7618929C>T	ENST00000256861.6	-	10	1543	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	ITIH5_ENST00000298441.6_Missense_Mutation_p.D275N|ITIH5_ENST00000446830.2_Missense_Mutation_p.D271N|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.D489N|ITIH5_ENST00000397146.2_Missense_Mutation_p.D489N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	489					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D489N(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGGGGATAATCGATGCGGATG	0.587																																							uc001ijq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(1465-1467)GAT>AAT		inter-alpha trypsin inhibitor heavy chain							74.0	71.0	72.0					10																	7618929		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618929C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1465G>A	10.37:g.7618929C>T	ENSP00000256861:p.Asp489Asn					ITIH5_uc001ijp.2_Missense_Mutation_p.D275N|ITIH5_uc001ijr.1_Missense_Mutation_p.D489N	p.D489N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			10	1544	-			489					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1465G>A		.	.	.	.	.	.	.	.	.	.	C	11.39	1.624816	0.28889	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.57	2.71	0.32032	.	0.188722	0.56097	D	0.000028	T	0.07052	0.0179	.	.	.	0.26436	N	0.975863	B;D;D	0.56521	0.401;0.96;0.976	B;B;P	0.44897	0.159;0.274;0.463	T	0.26744	-1.0094	9	0.10636	T	0.68	-5.7746	8.799	0.34896	0.0:0.739:0.1246:0.1364	.	489;489;275	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	N	489;489;275;271;489	ENSP00000256861:D489N;ENSP00000380333:D489N;ENSP00000298441:D275N;ENSP00000387969:D271N;ENSP00000380332:D489N	ENSP00000256861:D489N	D	-	1	0	ITIH5	7658935	0.993000	0.37304	0.001000	0.08648	0.106000	0.19336	2.896000	0.48656	0.300000	0.22699	0.462000	0.41574	GAT		0.587	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		14	65	0	0	0	0.003163	0	14	65				
GATA3	2625	broad.mit.edu	37	10	8111435	8111435	+	Splice_Site	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:8111435G>T	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000379328.3_Splice_Site|GATA3_ENST00000461472.1_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCACTCTCAGTCTGCAGCCA	0.483			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Unknown(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.e5-1		GATA binding protein 3 isoform 2							115.0	93.0	100.0					10																	8111435		2203	4300	6503	SO:0001630	splice_region_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8111435G>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.922-1G>T	10.37:g.8111435G>T						GATA3_uc001ijz.2_Splice_Site_p.S309_splice	p.S308_splice	NM_002051	NP_002042	P23771	GATA3_HUMAN			5	1479	+								Q5VWG7|Q5VWG8|Q96J16	Splice_Site	SNP	ENST00000346208.3	37	c.922_splice	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426651	0.83667	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3174	0.94220	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GATA3	8151441	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.796000	0.99103	2.632000	0.89209	0.511000	0.50034	.		0.483	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295	Intron	8	85	1	0	5.18039e-06	0.00308	5.92045e-06	8	85				
CUBN	8029	broad.mit.edu	37	10	16970156	16970156	+	Splice_Site	SNP	T	T	C	rs565338228		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:16970156T>C	ENST00000377833.4	-	41	6336	c.6271A>G	c.(6271-6273)Agc>Ggc	p.S2091G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2091	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S2091G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACTCATTACTCTTGTGAAAG	0.448																																							uc001ioo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(6271-6273)AGC>GGC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						73.0	70.0	71.0					10																	16970156		2203	4300	6503	SO:0001630	splice_region_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16970156T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6271+1A>G	10.37:g.16970156T>C							p.S2091G	NM_001081	NP_001072	O60494	CUBN_HUMAN			41	6323	-			2091			CUB 14.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6271A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466223	0.43839	.	.	ENSG00000107611	ENST00000377833	T	0.27402	1.67	5.71	4.57	0.56435	CUB (4);	0.000000	0.53938	D	0.000044	T	0.19846	0.0477	N	0.21142	0.635	0.80722	D	1	B	0.19706	0.038	B	0.15484	0.013	T	0.04593	-1.0940	9	.	.	.	.	11.7339	0.51755	0.0:0.0691:0.0:0.9308	.	2091	O60494	CUBN_HUMAN	G	2091	ENSP00000367064:S2091G	.	S	-	1	0	CUBN	17010162	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	2.274000	0.43390	0.993000	0.38866	0.533000	0.62120	AGC		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Missense_Mutation	3	86	0	0	0	0.004672	0	3	86				
MLLT10	8028	broad.mit.edu	37	10	22022812	22022812	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:22022812A>G	ENST00000307729.7	+	20	2790	c.2612A>G	c.(2611-2613)aAt>aGt	p.N871S	MLLT10_ENST00000377072.3_Missense_Mutation_p.N887S|MLLT10_ENST00000377059.3_Missense_Mutation_p.N871S|MLLT10_ENST00000446906.2_Missense_Mutation_p.N871S			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	871					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N871S(1)|p.N887S(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAGCAGGTCAATGGCGTGACA	0.557			T	"""MLL, PICALM, CDK6"""	AL																																		uc001iqs.2		NA		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(2659-2661)AAT>AGT		myeloid/lymphoid or mixed-lineage leukemia							80.0	78.0	78.0					10																	22022812		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22022812A>G	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2612A>G	10.37:g.22022812A>G	ENSP00000307411:p.Asn871Ser					MLLT10_uc001iqt.2_Missense_Mutation_p.N871S|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.N871S|MLLT10_uc001ira.2_Missense_Mutation_p.N328S|MLLT10_uc001irb.2_RNA	p.N887S	NM_004641	NP_004632	P55197	AF10_HUMAN			21	3008	+			887					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2660A>G	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636950	0.67130	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.15834	2.41;2.41;2.39;2.41	4.56	4.56	0.56223	.	0.241003	0.41712	D	0.000839	T	0.34337	0.0894	L	0.51422	1.61	0.50313	D	0.999867	D;D;P;D	0.71674	0.998;0.997;0.634;0.997	D;D;B;D	0.76071	0.987;0.97;0.118;0.97	T	0.02975	-1.1087	10	0.38643	T	0.18	.	13.9156	0.63895	1.0:0.0:0.0:0.0	.	566;871;871;887	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	S	887;871;871;706;871	ENSP00000366272:N887S;ENSP00000401406:N871S;ENSP00000307411:N871S;ENSP00000366258:N871S	ENSP00000307411:N871S	N	+	2	0	MLLT10	22062818	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.867000	0.69597	1.690000	0.51089	0.460000	0.39030	AAT		0.557	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			31	42	0	0	0	0.008361	0	31	42				
ARMC3	219681	broad.mit.edu	37	10	23297778	23297778	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:23297778T>A	ENST00000298032.5	+	16	2047	c.1963T>A	c.(1963-1965)Tct>Act	p.S655T	ARMC3_ENST00000376528.4_Missense_Mutation_p.S392T|ARMC3_ENST00000409983.3_Missense_Mutation_p.S648T|ARMC3_ENST00000409049.3_Missense_Mutation_p.S655T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	655						extracellular vesicular exosome (GO:0070062)		p.S655T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGATTTGGATCTCCCATAGA	0.363																																							uc001irm.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1963-1965)TCT>ACT		armadillo repeat containing 3							59.0	57.0	58.0					10																	23297778		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23297778T>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1963T>A	10.37:g.23297778T>A	ENSP00000298032:p.Ser655Thr					ARMC3_uc010qcv.1_Missense_Mutation_p.S648T|ARMC3_uc010qcw.1_Missense_Mutation_p.S392T	p.S655T	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			16	2046	+			655					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1963T>A	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	t	14.08	2.428746	0.43122	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000376528	T;T;T;T	0.41400	1.09;1.11;1.0;2.32	5.51	5.51	0.81932	.	0.492294	0.21510	N	0.073393	T	0.39759	0.1090	L	0.34521	1.04	0.36593	D	0.874209	B;P	0.52463	0.11;0.953	B;P	0.47603	0.028;0.551	T	0.48151	-0.9060	10	0.45353	T	0.12	-17.586	13.0011	0.58676	0.0:0.0:0.0:1.0	.	648;655	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	655;648;655;392	ENSP00000298032:S655T;ENSP00000386943:S648T;ENSP00000387288:S655T;ENSP00000365711:S392T	ENSP00000298032:S655T	S	+	1	0	ARMC3	23337784	1.000000	0.71417	0.997000	0.53966	0.640000	0.38277	4.253000	0.58791	2.087000	0.62958	0.367000	0.22151	TCT		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		12	24	0	0	0	0.00245	0	12	24				
GPR158	57512	broad.mit.edu	37	10	25887711	25887711	+	Silent	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:25887711T>A	ENST00000376351.3	+	11	3515	c.3156T>A	c.(3154-3156)ccT>ccA	p.P1052P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1052					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.P1052P(1)		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						ACCACAAGCCTAAGGCAGCTG	0.438																																							uc001isj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3154-3156)CCT>CCA		G protein-coupled receptor 158 precursor							88.0	88.0	88.0					10																	25887711		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887711T>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.3156T>A	10.37:g.25887711T>A						GPR158_uc001isk.2_Silent_p.P427P	p.P1052P	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3216	+			1052			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.3156T>A	CCDS31166.1																																																																																				0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		24	93	0	0	0	0.00632	0	24	93				
EPC1	80314	broad.mit.edu	37	10	32573955	32573955	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:32573955G>A	ENST00000263062.8	-	10	1684	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	RP11-166N17.3_ENST00000419441.1_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.S472L|EPC1_ENST00000375110.2_Missense_Mutation_p.S422L	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	472					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.S472L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GTCATAGTCTGAATGAGCTCT	0.338																																							uc001iwg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1414-1416)TCA>TTA		enhancer of polycomb 1							82.0	80.0	81.0					10																	32573955		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32573955G>A	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1415C>T	10.37:g.32573955G>A	ENSP00000263062:p.Ser472Leu					EPC1_uc001iwi.3_Missense_Mutation_p.S422L|EPC1_uc009xlt.2_Missense_Mutation_p.S422L|EPC1_uc001iwh.1_Missense_Mutation_p.S472L	p.S472L	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			10	1685	-		Prostate(175;0.0199)	472					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.1415C>T	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535983	0.85812	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.17854	2.25;2.25;2.25	5.98	5.98	0.97165	.	0.113762	0.64402	D	0.000008	T	0.30008	0.0751	L	0.59436	1.845	0.80722	D	1	P;P;P	0.47910	0.902;0.734;0.82	B;P;B	0.47786	0.242;0.557;0.297	T	0.00333	-1.1810	10	0.52906	T	0.07	-9.0173	20.4434	0.99119	0.0:0.0:1.0:0.0	.	422;472;472	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	L	422;472;472	ENSP00000364251:S422L;ENSP00000318559:S472L;ENSP00000263062:S472L	ENSP00000263062:S472L	S	-	2	0	EPC1	32613961	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.476000	0.97823	2.838000	0.97847	0.655000	0.94253	TCA		0.338	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			31	106	0	0	0	0.003271	0	31	106				
ZNF248	57209	broad.mit.edu	37	10	38120629	38120629	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:38120629C>A	ENST00000395867.3	-	6	2204	c.1654G>T	c.(1654-1656)Gca>Tca	p.A552S	ZNF248_ENST00000357328.4_Missense_Mutation_p.A552S|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Intron	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	552					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.A552S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTCCCACATGCATTACACTCA	0.428																																							uc001izd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1654-1656)GCA>TCA		zinc finger protein 248							126.0	114.0	118.0					10																	38120629		2203	4300	6503	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38120629C>A	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.1654G>T	10.37:g.38120629C>A	ENSP00000379208:p.Ala552Ser					ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.A552S	p.A552S	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			6	2153	-			552			C2H2-type 8.		Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.1654G>T	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965539	0.18583	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.07800	3.16;3.16	4.52	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.924705	0.09071	N	0.852816	T	0.07007	0.0178	L	0.31065	0.9	0.09310	N	1	B	0.25007	0.116	B	0.25614	0.062	T	0.38156	-0.9674	10	0.66056	D	0.02	.	6.219	0.20671	0.0:0.6564:0.1565:0.1871	.	552	Q8NDW4	ZN248_HUMAN	S	552	ENSP00000379208:A552S;ENSP00000349882:A552S	ENSP00000349882:A552S	A	-	1	0	ZNF248	38160635	0.000000	0.05858	0.664000	0.29753	0.981000	0.71138	0.141000	0.16076	0.637000	0.30526	-0.145000	0.13849	GCA		0.428	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		28	29	1	0	1.90571e-15	0.004289	2.67468e-15	28	29				
TBC1D12	23232	broad.mit.edu	37	10	96291100	96291100	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:96291100G>A	ENST00000225235.4	+	12	2252	c.2142G>A	c.(2140-2142)atG>atA	p.M714I	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	714							Rab GTPase activator activity (GO:0005097)	p.M714I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TCCTGCAGATGGACTTTATTC	0.388																																							uc001kjr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2140-2142)ATG>ATA		TBC1 domain family, member 12							122.0	114.0	117.0					10																	96291100		1837	4092	5929	SO:0001583	missense	23232					intracellular	Rab GTPase activator activity	g.chr10:96291100G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2142G>A	10.37:g.96291100G>A	ENSP00000225235:p.Met714Ile						p.M714I	NM_015188	NP_056003	O60347	TBC12_HUMAN			12	2327	+		Colorectal(252;0.0429)	714					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	c.2142G>A	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093727	0.76870	.	.	ENSG00000108239	ENST00000225235	T	0.22539	1.95	5.31	5.31	0.75309	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	M	0.74647	2.275	0.80722	D	1	P	0.51449	0.945	P	0.52957	0.714	T	0.15983	-1.0418	10	0.54805	T	0.06	-13.3342	16.527	0.84333	0.0:0.0:1.0:0.0	.	714	O60347	TBC12_HUMAN	I	714	ENSP00000225235:M714I	ENSP00000225235:M714I	M	+	3	0	TBC1D12	96281090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.860000	0.86993	2.768000	0.95171	0.650000	0.86243	ATG		0.388	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			26	89	0	0	0	0.008361	0	26	89				
SCGB1C1	147199	broad.mit.edu	37	11	193795	193795	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:193795G>T	ENST00000342878.2	+	2	159	c.139G>T	c.(139-141)Gag>Tag	p.E47*	ODF3_ENST00000325113.4_5'Flank|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000342593.5_5'Flank	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	47						extracellular region (GO:0005576)		p.E47*(1)		endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGAGCTCTATGAGGGGACCTT	0.537																																							uc001loa.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(139-141)GAG>TAG		secretoglobin, family 1C, member 1 precursor							80.0	90.0	87.0					11																	193795		2054	4194	6248	SO:0001587	stop_gained	147199					extracellular region	binding	g.chr11:193795G>T	AY026938	CCDS41581.1	11p15.5	2011-12-14			ENSG00000188076	ENSG00000188076		"""Secretoglobins"""	18394	protein-coding gene	gene with protein product		610176				22155607	Standard	NM_145651		Approved	RYD5	uc001loa.1	Q8TD33	OTTHUMG00000165539	ENST00000342878.2:c.139G>T	11.37:g.193795G>T	ENSP00000344545:p.Glu47*					ODF3_uc001lob.2_5'Flank|ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank	p.E47*	NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	159	+		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	47					A8MSI9|Q14DW0	Nonsense_Mutation	SNP	ENST00000342878.2	37	c.139G>T	CCDS41581.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.437317	0.83885	.	.	ENSG00000188076	ENST00000342878	.	.	.	5.12	4.21	0.49690	.	0.445951	0.21357	N	0.075873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.6395	9.9148	0.41427	0.0953:0.0:0.9047:0.0	.	.	.	.	X	47	.	ENSP00000344545:E47X	E	+	1	0	SCGB1C1	183795	0.871000	0.30034	0.658000	0.29665	0.900000	0.52787	2.164000	0.42387	1.309000	0.44985	0.561000	0.74099	GAG		0.537	SCGB1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384759.1	NM_145651		9	90	1	0	0.00448238	0.004482	0.0047972	9	90				
TALDO1	6888	broad.mit.edu	37	11	763398	763398	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:763398C>T	ENST00000319006.3	+	5	669	c.516C>T	c.(514-516)ttC>ttT	p.F172F	TALDO1_ENST00000528097.1_Silent_p.F172F			P37837	TALDO_HUMAN	transaldolase 1	172					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.F172F(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TCTTCTCCTTCGCCCAGGCTG	0.632																																							uc001lqz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(514-516)TTC>TTT		transaldolase 1							126.0	110.0	116.0					11																	763398		2203	4300	6503	SO:0001819	synonymous_variant	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:763398C>T		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.516C>T	11.37:g.763398C>T						TALDO1_uc001lra.2_Silent_p.F172F	p.F172F	NM_006755	NP_006746	P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	5	566	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	172					B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	c.516C>T	CCDS7712.1																																																																																				0.632	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		26	148	0	0	0	0.013726	0	26	148				
OR51A7	119687	broad.mit.edu	37	11	4928721	4928721	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:4928721G>T	ENST00000359350.4	+	1	122	c.122G>T	c.(121-123)gGc>gTc	p.G41V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATCATGGGCAACTGCACC	0.488																																							uc010qyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(121-123)GGC>GTC		olfactory receptor, family 51, subfamily A,							156.0	138.0	144.0					11																	4928721		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928721G>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.122G>T	11.37:g.4928721G>T	ENSP00000352305:p.Gly41Val						p.G41V	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	122	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	41			Helical; Name=1; (Potential).		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.122G>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628956	0.67015	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.00537	6.72	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.04452	0.0122	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01945	-1.1242	10	0.87932	D	0	.	17.069	0.86568	0.0:0.0:1.0:0.0	.	41	Q8NH64	O51A7_HUMAN	V	41;41;30	ENSP00000352305:G41V	ENSP00000352305:G41V	G	+	2	0	OR51A7	4885297	0.998000	0.40836	0.972000	0.41901	0.561000	0.35649	3.705000	0.54823	2.596000	0.87737	0.655000	0.94253	GGC		0.488	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		46	117	1	0	6.32628e-17	0.01441	9.03754e-17	46	117				
OR56A4	120793	broad.mit.edu	37	11	6023636	6023636	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:6023636G>A	ENST00000330728.4	-	1	788	c.743C>T	c.(742-744)aCt>aTt	p.T248I		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T248I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGATTGAAAGTGATGTCATC	0.428																																							uc010qzv.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(742-744)ACT>ATT		olfactory receptor, family 56, subfamily A,							48.0	48.0	48.0					11																	6023636		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023636G>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.743C>T	11.37:g.6023636G>A	ENSP00000328215:p.Thr248Ile						p.T248I	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	743	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	196			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.743C>T	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	8.824	0.938221	0.18206	.	.	ENSG00000183389	ENST00000330728	T	0.00091	8.74	3.72	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37304	U	0.002152	T	0.00241	0.0007	M	0.85373	2.75	0.09310	N	1	B	0.15930	0.015	B	0.31337	0.128	T	0.34950	-0.9808	10	0.87932	D	0	.	6.031	0.19681	0.11:0.3129:0.5771:0.0	.	196	Q8NGH8	O56A4_HUMAN	I	248	ENSP00000328215:T248I	ENSP00000328215:T248I	T	-	2	0	OR56A4	5980212	0.001000	0.12720	0.027000	0.17364	0.987000	0.75469	0.882000	0.28186	0.890000	0.36211	0.655000	0.94253	ACT		0.428	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		14	22	0	0	0	0.00278	0	14	22				
TPH1	7166	broad.mit.edu	37	11	18044391	18044391	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:18044391C>T	ENST00000250018.2	-	9	1676	c.1114G>A	c.(1114-1116)Gtc>Atc	p.V372I	TPH1_ENST00000525406.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.V372I	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	372					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.V372I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACAAAGTAGACATCTTGAAAA	0.403																																							uc001mnp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1114-1116)GTC>ATC		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						93.0	85.0	88.0					11																	18044391		2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18044391C>T	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1114G>A	11.37:g.18044391C>T	ENSP00000250018:p.Val372Ile					TPH1_uc009yhe.2_RNA	p.V372I	NM_004179	NP_004170	P17752	TPH1_HUMAN			9	1140	-			372					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.1114G>A	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216630	0.58452	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99557	-6.16;-6.16	5.69	5.69	0.88448	Aromatic amino acid hydroxylase, C-terminal (4);	0.053694	0.85682	D	0.000000	D	0.98673	0.9555	L	0.45352	1.415	0.58432	D	0.999993	B	0.20780	0.048	B	0.36289	0.221	D	0.99935	1.1354	10	0.16896	T	0.51	-18.4133	15.3026	0.73966	0.0:0.8605:0.1395:0.0	.	372	P17752	TPH1_HUMAN	I	372	ENSP00000250018:V372I;ENSP00000343550:V372I	ENSP00000250018:V372I	V	-	1	0	TPH1	18000967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.902000	0.63266	2.685000	0.91497	0.555000	0.69702	GTC		0.403	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		18	29	0	0	0	0.00499	0	18	29				
SLC6A5	9152	broad.mit.edu	37	11	20676384	20676384	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:20676384G>A	ENST00000525748.1	+	16	2637	c.2364G>A	c.(2362-2364)gtG>gtA	p.V788V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	788					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AACTGCCAGTGAAGGATTTGG	0.532																																							uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2362-2364)GTG>GTA		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						187.0	169.0	175.0					11																	20676384		2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20676384G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2364G>A	11.37:g.20676384G>A						SLC6A5_uc009yic.2_Silent_p.V553V	p.V788V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			16	2637	+			788			Cytoplasmic (Potential).		O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.2364G>A	CCDS7854.1																																																																																				0.532	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		5	213	0	0	0	0.00308	0	5	213				
EHF	26298	broad.mit.edu	37	11	34668199	34668199	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:34668199T>C	ENST00000533754.1	+	3	528	c.311T>C	c.(310-312)cTc>cCc	p.L104P	EHF_ENST00000531728.1_Missense_Mutation_p.L104P|EHF_ENST00000257831.3_Missense_Mutation_p.L104P|EHF_ENST00000530286.1_Missense_Mutation_p.L104P|EHF_ENST00000531794.1_Missense_Mutation_p.L126P|EHF_ENST00000450654.2_Missense_Mutation_p.L104P|EHF_ENST00000527935.1_Missense_Mutation_p.L104P					ets homologous factor									p.L104P(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGGCAGCTCCTCTACAGCAAC	0.552																																							uc001mvr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(310-312)CTC>CCC		ets homologous factor							109.0	109.0	109.0					11																	34668199		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34668199T>C	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.311T>C	11.37:g.34668199T>C	ENSP00000435837:p.Leu104Pro					EHF_uc009yke.1_Missense_Mutation_p.L104P|EHF_uc009ykf.1_Missense_Mutation_p.L107P	p.L104P	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		3	422	+		all_hematologic(20;0.117)	104			PNT.			Missense_Mutation	SNP	ENST00000533754.1	37	c.311T>C	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605031	0.87157	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000531728;ENST00000525253;ENST00000531794;ENST00000532302;ENST00000527935	T;T;T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.24	5.24	0.73138	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.235434	0.44688	D	0.000426	T	0.80352	0.4607	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.82676	-0.0339	9	.	.	.	.	15.1519	0.72706	0.0:0.0:0.0:1.0	.	126;104;104	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	P	104;104;104;104;104;104;104;126;104;104	ENSP00000257831:L104P;ENSP00000399733:L104P;ENSP00000433508:L104P;ENSP00000435837:L104P;ENSP00000432905:L104P;ENSP00000436357:L104P;ENSP00000434395:L104P;ENSP00000435835:L126P;ENSP00000432460:L104P;ENSP00000436158:L104P	.	L	+	2	0	EHF	34624775	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	1.987000	0.57996	0.454000	0.30748	CTC		0.552	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		60	138	0	0	0	0.01441	0	60	138				
SYT13	57586	broad.mit.edu	37	11	45307669	45307669	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:45307669A>G	ENST00000020926.3	-	1	201	c.90T>C	c.(88-90)tgT>tgC	p.C30C		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	30					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.C30C(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCATGTGCCGACACAGGCAGG	0.687																																							uc001myq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(88-90)TGT>TGC		synaptotagmin XIII							17.0	17.0	17.0					11																	45307669		2194	4292	6486	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45307669A>G	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.90T>C	11.37:g.45307669A>G						SYT13_uc009yku.1_5'UTR	p.C30C	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			1	216	-			30			Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.90T>C	CCDS31470.1																																																																																				0.687	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		5	11	0	0	0	0.001984	0	5	11				
CHRM4	1132	broad.mit.edu	37	11	46407047	46407047	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:46407047A>T	ENST00000433765.2	-	1	1060	c.1061T>A	c.(1060-1062)gTg>gAg	p.V354E		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	354					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.V354E(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AATGGCTGTCACACACTCATT	0.657																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)GTG>GAG		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						146.0	159.0	154.0					11																	46407047		2150	4234	6384	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407047A>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1061T>A	11.37:g.46407047A>T	ENSP00000409378:p.Val354Glu						p.V354E	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1061	-			354			Cytoplasmic (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.1061T>A	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	a	11.14	1.550206	0.27652	.	.	ENSG00000180720	ENST00000433765	T	0.59638	0.25	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.50497	0.1619	L	0.31065	0.9	0.48135	D	0.999594	P	0.38745	0.645	B	0.43623	0.425	T	0.49143	-0.8970	9	0.33141	T	0.24	-13.3671	13.863	0.63573	1.0:0.0:0.0:0.0	.	354	P08173	ACM4_HUMAN	E	354	ENSP00000409378:V354E	ENSP00000409378:V354E	V	-	2	0	CHRM4	46363623	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.780000	0.62382	1.870000	0.54199	0.375000	0.23000	GTG		0.657	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		24	134	0	0	0	0.008361	0	24	134				
OR4X1	390113	broad.mit.edu	37	11	48285600	48285600	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:48285600A>G	ENST00000320048.1	+	1	188	c.188A>G	c.(187-189)tAc>tGc	p.Y63C		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y63C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TTTCTCAGCTACTTATCCTTT	0.493																																							uc010rht.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(187-189)TAC>TGC		olfactory receptor, family 4, subfamily X,							150.0	136.0	141.0					11																	48285600		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285600A>G	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.188A>G	11.37:g.48285600A>G	ENSP00000321506:p.Tyr63Cys						p.Y63C	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			1	188	+			63			Helical; Name=2; (Potential).		Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.188A>G	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	A	4.586	0.108938	0.08780	.	.	ENSG00000176567	ENST00000320048	T	0.02974	4.09	4.29	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02848	0.0085	L	0.39898	1.24	0.22401	N	0.999137	B	0.09022	0.002	B	0.12156	0.007	T	0.43766	-0.9371	9	0.42905	T	0.14	.	4.4993	0.11856	0.4497:0.1697:0.0:0.3806	.	63	Q8NH49	OR4X1_HUMAN	C	63	ENSP00000321506:Y63C	ENSP00000321506:Y63C	Y	+	2	0	OR4X1	48242176	0.000000	0.05858	0.972000	0.41901	0.165000	0.22458	0.033000	0.13754	0.222000	0.20900	0.460000	0.39030	TAC		0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		6	102	0	0	0	0.001168	0	6	102				
OR4S1	256148	broad.mit.edu	37	11	48328454	48328454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:48328454C>A	ENST00000319988.1	+	1	680	c.680C>A	c.(679-681)tCa>tAa	p.S227*		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S227*(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AGAAGCCAGTCATCTGAGGAC	0.468																																							uc010rhu.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(679-681)TCA>TAA		olfactory receptor, family 4, subfamily S,							198.0	178.0	185.0					11																	48328454		2201	4298	6499	SO:0001587	stop_gained	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328454C>A	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.680C>A	11.37:g.48328454C>A	ENSP00000321447:p.Ser227*						p.S227*	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	680	+			227			Cytoplasmic (Potential).		Q6IFB4	Nonsense_Mutation	SNP	ENST00000319988.1	37	c.680C>A	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	6.502	0.460863	0.12342	.	.	ENSG00000176555	ENST00000319988	.	.	.	5.02	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5378	0.61655	0.0:0.7027:0.2973:0.0	.	.	.	.	X	227	.	ENSP00000321447:S227X	S	+	2	0	OR4S1	48285030	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	-0.204000	0.09425	0.582000	0.29556	0.655000	0.94253	TCA		0.468	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		52	201	1	0	1.13205e-32	0.01441	1.79334e-32	52	201				
OR4C13	283092	broad.mit.edu	37	11	49974727	49974727	+	Silent	SNP	C	C	A	rs150732180		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:49974727C>A	ENST00000555099.1	+	1	785	c.753C>A	c.(751-753)ccC>ccA	p.P251P		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P251P(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCTTTATACCCTGCATATTTG	0.418																																							uc010rhz.1		NA																	2	Substitution - coding silent(2)	p.P251P(1)	lung(1)|skin(1)	skin(3)|ovary(1)	4						c.(751-753)CCC>CCA		olfactory receptor, family 4, subfamily C,							170.0	154.0	159.0					11																	49974727		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974727C>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.753C>A	11.37:g.49974727C>A							p.P251P	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	753	+			251			Helical; Name=6; (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.753C>A	CCDS31495.1																																																																																				0.418	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		34	138	1	0	1.49673e-21	0.00623	2.20716e-21	34	138				
OR4A16	81327	broad.mit.edu	37	11	55110823	55110823	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:55110823C>A	ENST00000314721.2	+	1	197	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G49G(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTACTATTGGCAGCCCCTCCT	0.413																																							uc010rie.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(145-147)GGC>GGA		olfactory receptor, family 4, subfamily A,							121.0	117.0	119.0					11																	55110823		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110823C>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.147C>A	11.37:g.55110823C>A							p.G49G	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	147	+			49			Cytoplasmic (Potential).		Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.147C>A	CCDS31499.1																																																																																				0.413	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		52	92	1	0	1.03172e-35	0.01441	1.65905e-35	52	92				
TRIM51	84767	broad.mit.edu	37	11	55658932	55658932	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:55658932T>A	ENST00000449290.2	+	7	1275	c.1183T>A	c.(1183-1185)Tcc>Acc	p.S395T	TRIM51_ENST00000244891.3_Missense_Mutation_p.S252T	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	395	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S236T(1)|p.S395T(1)									CTTTACCACCTCCCCACTTGT	0.448																																							uc010rip.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1183-1185)TCC>ACC		SPRY domain containing 5							31.0	31.0	31.0					11																	55658932		2129	4093	6222	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658932T>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1183T>A	11.37:g.55658932T>A	ENSP00000395086:p.Ser395Thr					SPRYD5_uc010riq.1_Missense_Mutation_p.S252T	p.S395T	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1275	+		all_epithelial(135;0.226)	395			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1183T>A		.	.	.	.	.	.	.	.	.	.	.	13.02	2.113639	0.37339	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.64260	-0.09;-0.09	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.73009	0.3532	M	0.73598	2.24	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.57700	-0.7766	9	0.40728	T	0.16	.	5.1325	0.14917	0.0:0.0:0.0:1.0	.	395	Q9BSJ1	SPRY5_HUMAN	T	395;252	ENSP00000395086:S395T;ENSP00000244891:S252T	ENSP00000244891:S252T	S	+	1	0	SPRYD5	55415508	0.002000	0.14202	0.013000	0.15412	0.197000	0.23852	0.233000	0.17911	0.540000	0.28808	0.136000	0.15936	TCC		0.448	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		19	47	0	0	0	0.008871	0	19	47				
OR8J1	219477	broad.mit.edu	37	11	56128013	56128013	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:56128013T>A	ENST00000303039.3	+	1	323	c.291T>A	c.(289-291)tgT>tgA	p.C97*		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCTATGAATGTGCCACCCAAC	0.413																																							uc010rjh.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(289-291)TGT>TGA		olfactory receptor, family 8, subfamily J,							146.0	138.0	141.0					11																	56128013		2201	4294	6495	SO:0001587	stop_gained	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128013T>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.291T>A	11.37:g.56128013T>A	ENSP00000304060:p.Cys97*						p.C97*	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	291	+	Esophageal squamous(21;0.00448)		97			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Nonsense_Mutation	SNP	ENST00000303039.3	37	c.291T>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289659	0.40494	.	.	ENSG00000172487	ENST00000303039	.	.	.	4.76	2.29	0.28610	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.7326	0.05231	0.0:0.2348:0.2469:0.5182	.	.	.	.	X	97	.	ENSP00000304060:C97X	C	+	3	2	OR8J1	55884589	0.085000	0.21516	1.000000	0.80357	0.390000	0.30446	0.355000	0.20163	1.910000	0.55303	0.523000	0.50628	TGT		0.413	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		34	118	0	0	0	0.003755	0	34	118				
PRPF19	27339	broad.mit.edu	37	11	60658726	60658726	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:60658726C>T	ENST00000227524.4	-	16	1632	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.G476D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGTGGTCAGGCCGCTATGCTC	0.522																																							uc001nqf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1426-1428)GGC>GAC		PRP19/PSO4 pre-mRNA processing factor 19							68.0	60.0	63.0					11																	60658726		2203	4299	6502	SO:0001583	missense	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60658726C>T	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1427G>A	11.37:g.60658726C>T	ENSP00000227524:p.Gly476Asp						p.G476D	NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN			16	1634	-			476			WD 7.			Missense_Mutation	SNP	ENST00000227524.4	37	c.1427G>A	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631188	0.67015	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	D;T	0.81739	-1.53;0.16	5.3	5.3	0.74995	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	0.71204	0.3312	L	0.31926	0.97	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.64833	-0.6314	10	0.12430	T	0.62	-24.4678	16.9259	0.86176	0.0:1.0:0.0:0.0	.	476	Q9UMS4	PRP19_HUMAN	D	476;91	ENSP00000227524:G476D;ENSP00000445435:G91D	ENSP00000227524:G476D	G	-	2	0	PRPF19	60415302	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.777000	0.75028	2.763000	0.94921	0.637000	0.83480	GGC		0.522	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		11	39	0	0	0	0.008291	0	11	39				
MYRF	745	broad.mit.edu	37	11	61544847	61544847	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:61544847G>T	ENST00000278836.5	+	12	1798	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	MYRF_ENST00000265460.5_Missense_Mutation_p.D559Y|MYRF_ENST00000389602.4_5'Flank|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Missense_Mutation_p.D193Y	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	568					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D559Y(1)									AGACCGGCCGGATGAGGCGCT	0.652																																							uc001nsc.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1702-1704)GAT>TAT		myelin gene regulatory factor isoform 2							45.0	43.0	44.0					11																	61544847		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61544847G>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1702G>T	11.37:g.61544847G>T	ENSP00000278836:p.Asp568Tyr					C11orf9_uc001nse.1_Missense_Mutation_p.D559Y|C11orf9_uc010rll.1_5'Flank	p.D568Y	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			12	1798	+			568					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.1702G>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930998	0.73327	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.51071	1.23;1.24;0.72	3.83	2.91	0.33838	.	0.113796	0.56097	D	0.000025	T	0.66752	0.2821	M	0.82630	2.6	0.80722	D	1	D;P	0.55385	0.971;0.786	D;P	0.64321	0.924;0.572	T	0.71820	-0.4477	10	0.87932	D	0	-14.1345	11.978	0.53103	0.0877:0.0:0.9122:0.0	.	559;568	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	Y	568;559;193	ENSP00000278836:D568Y;ENSP00000265460:D559Y;ENSP00000333261:D193Y	ENSP00000265460:D559Y	D	+	1	0	C11orf9	61301423	1.000000	0.71417	0.227000	0.23927	0.925000	0.55904	6.296000	0.72751	0.916000	0.36871	0.313000	0.20887	GAT		0.652	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		16	50	1	0	7.07758e-08	0.004656	8.54651e-08	16	50				
CNTN5	53942	broad.mit.edu	37	11	100211835	100211835	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:100211835A>C	ENST00000524871.1	+	23	3218	c.2928A>C	c.(2926-2928)caA>caC	p.Q976H	CNTN5_ENST00000418526.2_Missense_Mutation_p.Q902H|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.Q976H|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q976H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	976					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Q976H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCCTAGTCAAGCACCTAGCA	0.423																																							uc001pga.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2926-2928)CAA>CAC		contactin 5 isoform long							117.0	113.0	114.0					11																	100211835		1847	4102	5949	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100211835A>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2928A>C	11.37:g.100211835A>C	ENSP00000435637:p.Gln976His					CNTN5_uc001pgb.2_Missense_Mutation_p.Q902H|CNTN5_uc010ruk.1_Missense_Mutation_p.Q247H	p.Q976H	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	23	3267	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	976			Fibronectin type-III 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2928A>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486006	0.26686	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.46	3.15	0.36227	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112996	0.64402	D	0.000009	T	0.58481	0.2125	M	0.75615	2.305	0.42668	D	0.993503	P;P	0.42203	0.731;0.773	B;P	0.48524	0.444;0.58	T	0.55811	-0.8082	9	.	.	.	.	8.8771	0.35352	0.8484:0.0:0.1516:0.0	.	902;976	O94779-2;O94779	.;CNTN5_HUMAN	H	976;976;902;976	ENSP00000436185:Q976H;ENSP00000435637:Q976H;ENSP00000393229:Q902H;ENSP00000279463:Q976H	.	Q	+	3	2	CNTN5	99717045	1.000000	0.71417	0.957000	0.39632	0.032000	0.12392	1.134000	0.31442	0.389000	0.25086	-0.256000	0.11100	CAA		0.423	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		5	96	0	0	0	0.000602	0	5	96				
PRDM10	56980	broad.mit.edu	37	11	129794872	129794872	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:129794872G>A	ENST00000360871.3	-	12	2014	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	PRDM10_ENST00000358825.5_Missense_Mutation_p.R599C|PRDM10_ENST00000528746.1_Missense_Mutation_p.R569C|PRDM10_ENST00000423662.2_Missense_Mutation_p.R513C|PRDM10_ENST00000526082.1_Missense_Mutation_p.R513C|PRDM10_ENST00000304538.6_Missense_Mutation_p.R509C	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R595C(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AAATCAAGGCGGTCAAAGGAT	0.453																																							uc001qfm.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1795-1797)CGC>TGC		PR domain containing 10 isoform 1							145.0	146.0	146.0					11																	129794872		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129794872G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1783C>T	11.37:g.129794872G>A	ENSP00000354118:p.Arg595Cys					PRDM10_uc001qfj.2_Missense_Mutation_p.R513C|PRDM10_uc001qfk.2_Missense_Mutation_p.R509C|PRDM10_uc001qfl.2_Missense_Mutation_p.R513C|PRDM10_uc010sbx.1_Missense_Mutation_p.R509C|PRDM10_uc001qfn.2_Missense_Mutation_p.R595C	p.R599C	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	13	2027	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	599			C2H2-type 4.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1795C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786955	0.70337	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.052177	0.85682	D	0.000000	T	0.36936	0.0985	L	0.58302	1.8	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	P;D;P;D;D;D	0.67103	0.869;0.938;0.869;0.938;0.949;0.938	T	0.02156	-1.1204	10	0.56958	D	0.05	-30.2295	14.6699	0.68937	0.0:0.0:0.8548:0.1452	.	509;595;599;513;509;513	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	C	599;509;595;513;569;513;312	ENSP00000351686:R599C;ENSP00000302669:R509C;ENSP00000354118:R595C;ENSP00000398431:R513C;ENSP00000431262:R569C;ENSP00000432237:R513C;ENSP00000435940:R312C	ENSP00000302669:R509C	R	-	1	0	PRDM10	129300082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.837000	0.69381	2.687000	0.91594	0.655000	0.94253	CGC		0.453	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		33	112	0	0	0	0.003271	0	33	112				
CD163L1	283316	broad.mit.edu	37	12	7586276	7586276	+	Nonsense_Mutation	SNP	C	C	A	rs374456374		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:7586276C>A	ENST00000313599.3	-	3	196	c.139G>T	c.(139-141)Gag>Tag	p.E47*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.E47*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.E47*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	47						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E47*(1)|p.E47Q(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCCTCAACTCCAAATCTGTT	0.458																																							uc001qsy.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(139-141)GAG>TAG		scavenger receptor cysteine-rich type 1		C	stop/GLU	0,4406		0,0,2203	119.0	100.0	106.0		139	-0.8	0.0	12		106	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CD163L1	NM_174941.4		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		47/1454	7586276	1,13005	2203	4300	6503	SO:0001587	stop_gained	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586276C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.139G>T	12.37:g.7586276C>A	ENSP00000315945:p.Glu47*					CD163L1_uc010sge.1_Nonsense_Mutation_p.E47*	p.E47*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			3	165	-			47			Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	ENST00000313599.3	37	c.139G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331648	0.41297	0.0	1.16E-4	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	2.22	-0.803	0.10886	.	1.516350	0.05114	U	0.489447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	6.5615	0.22489	0.0:0.6087:0.0:0.3913	.	.	.	.	X	47	.	ENSP00000315945:E47X	E	-	1	0	CD163L1	7477543	0.000000	0.05858	0.001000	0.08648	0.370000	0.29829	0.094000	0.15107	-0.232000	0.09811	0.563000	0.77884	GAG		0.458	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		12	53	1	0	0.000308642	0.003163	0.00034057	12	53				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|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;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	10	1	0	1.08611e-07	0.010729	1.3017e-07	11	10				
SYT10	341359	broad.mit.edu	37	12	33529829	33529829	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:33529829C>G	ENST00000228567.3	-	7	1804	c.1508G>C	c.(1507-1509)gGc>gCc	p.G503A	SYT10_ENST00000535526.1_Missense_Mutation_p.G322A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	503					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.G503A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGTCGCCCGGCCAGGTAACTG	0.398																																							uc001rll.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1507-1509)GGC>GCC		synaptotagmin X							98.0	98.0	98.0					12																	33529829		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529829C>G	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1508G>C	12.37:g.33529829C>G	ENSP00000228567:p.Gly503Ala					SYT10_uc009zju.1_Missense_Mutation_p.G313A	p.G503A	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			7	1805	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		503			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1508G>C	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177497	0.38413	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.50001	0.87;0.76	4.83	4.83	0.62350	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.42053	U	0.000762	T	0.42743	0.1216	L	0.44542	1.39	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.22347	-1.0219	10	0.28530	T	0.3	.	17.8053	0.88600	0.0:1.0:0.0:0.0	.	503	Q6XYQ8	SYT10_HUMAN	A	503;322	ENSP00000228567:G503A;ENSP00000438691:G322A	ENSP00000228567:G503A	G	-	2	0	SYT10	33421096	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.288000	0.59007	2.596000	0.87737	0.655000	0.94253	GGC		0.398	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		26	49	0	0	0	0.005443	0	26	49				
WNT10B	7480	broad.mit.edu	37	12	49362049	49362049	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:49362049C>A	ENST00000301061.4	-	4	739	c.391G>T	c.(391-393)Gca>Tca	p.A131S	WNT10B_ENST00000407467.1_Missense_Mutation_p.A131S|WNT10B_ENST00000403957.1_Missense_Mutation_p.A131S	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	131					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.A131S(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GTGGCTACTGCGTGCATGACC	0.602																																							uc001rss.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|lung(3)	7						c.(391-393)GCA>TCA		wingless-type MMTV integration site family,							51.0	46.0	48.0					12																	49362049		2203	4300	6503	SO:0001583	missense	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49362049C>A	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.391G>T	12.37:g.49362049C>A	ENSP00000301061:p.Ala131Ser					WNT10B_uc001rst.2_Missense_Mutation_p.A131S	p.A131S	NM_003394	NP_003385	O00744	WN10B_HUMAN			4	737	-			131					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	ENST00000301061.4	37	c.391G>T	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418420	0.25552	.	.	ENSG00000169884	ENST00000301061;ENST00000407467;ENST00000403957	T;T;T	0.75704	-0.96;-0.96;-0.96	5.11	4.16	0.48862	.	0.062461	0.64402	D	0.000003	T	0.56485	0.1988	N	0.12569	0.235	0.38526	D	0.948845	B;B	0.18610	0.029;0.002	B;B	0.21151	0.033;0.018	T	0.56294	-0.8003	10	0.33141	T	0.24	.	12.9064	0.58154	0.1613:0.8387:0.0:0.0	.	131;131	Q4VAJ4;O00744	.;WN10B_HUMAN	S	131	ENSP00000301061:A131S;ENSP00000384691:A131S;ENSP00000385980:A131S	ENSP00000301061:A131S	A	-	1	0	WNT10B	47648316	0.974000	0.33945	0.358000	0.25811	0.906000	0.53458	2.392000	0.44433	2.552000	0.86080	0.561000	0.74099	GCA		0.602	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		15	28	1	0	1.5739e-10	0.004007	2.02268e-10	15	28				
FMNL3	91010	broad.mit.edu	37	12	50045755	50045755	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:50045755G>A	ENST00000293590.5	-	14	1797	c.1564C>T	c.(1564-1566)Cca>Tca	p.P522S	FMNL3_ENST00000352151.5_Missense_Mutation_p.P471S|FMNL3_ENST00000335154.5_Missense_Mutation_p.P522S|FMNL3_ENST00000550488.1_Missense_Mutation_p.P522S			Q8IVF7	FMNL3_HUMAN	formin-like 3	522	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.P522S(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGCGGAGCTGGTGGTGGAGGA	0.647																																							uc001ruv.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(2)	4						c.(1564-1566)CCA>TCA		formin-like 3 isoform 1							16.0	20.0	19.0					12																	50045755		1991	4144	6135	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50045755G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1564C>T	12.37:g.50045755G>A	ENSP00000293590:p.Pro522Ser					FMNL3_uc001ruw.1_Missense_Mutation_p.P471S|FMNL3_uc001rut.1_Missense_Mutation_p.P88S|FMNL3_uc001ruu.1_Missense_Mutation_p.P372S	p.P522S	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			14	1798	-			522			Pro-rich.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1564C>T		.	.	.	.	.	.	.	.	.	.	G	16.70	3.195665	0.58126	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.18	5.18	0.71444	.	0.173223	0.51477	D	0.000098	D	0.90830	0.7120	L	0.58101	1.795	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.994	P;P;P	0.62298	0.801;0.9;0.722	D	0.88246	0.2913	10	0.23302	T	0.38	.	17.8417	0.88717	0.0:0.0:1.0:0.0	.	471;522;522	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	S	522;522;471;522	ENSP00000335655:P522S;ENSP00000447479:P522S;ENSP00000344311:P471S;ENSP00000293590:P522S	ENSP00000293590:P522S	P	-	1	0	FMNL3	48332022	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.692000	0.68256	2.586000	0.87340	0.561000	0.74099	CCA		0.647	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		4	17	0	0	0	0.000602	0	4	17				
ERBB3	2065	broad.mit.edu	37	12	56489093	56489093	+	Splice_Site	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:56489093G>T	ENST00000267101.3	+	16	2352	c.1912G>T	c.(1912-1914)Ggc>Tgc	p.G638C	ERBB3_ENST00000415288.2_Splice_Site_p.G579C|ERBB3_ENST00000450146.2_5'UTR|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000549832.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	638					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.G638C(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGTGCTGATCGGGTATGATGG	0.502																																							uc001sjh.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(1912-1914)GGC>TGC		erbB-3 isoform 1 precursor							144.0	139.0	141.0					12																	56489093		2203	4300	6503	SO:0001630	splice_region_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56489093G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1913+1G>T	12.37:g.56489093G>T						ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_5'UTR|ERBB3_uc010sqc.1_Missense_Mutation_p.G579C|ERBB3_uc009zok.2_Missense_Mutation_p.G80C|ERBB3_uc001sjk.2_5'Flank	p.G638C	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		16	2105	+			638			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.1912G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696170	0.30052	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.78481	-1.18;-1.16	5.44	2.92	0.33932	.	0.237734	0.38605	N	0.001621	T	0.65207	0.2669	L	0.42245	1.32	0.80722	D	1	P;B	0.41784	0.762;0.224	B;B	0.39094	0.29;0.137	T	0.62105	-0.6924	10	0.72032	D	0.01	.	3.1191	0.06385	0.6183:0.0:0.2094:0.1723	.	579;638	P21860-4;P21860	.;ERBB3_HUMAN	C	638;579	ENSP00000267101:G638C;ENSP00000408340:G579C	ENSP00000267101:G638C	G	+	1	0	ERBB3	54775360	1.000000	0.71417	0.994000	0.49952	0.314000	0.28054	2.047000	0.41269	0.421000	0.25980	-0.345000	0.07892	GGC		0.502	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Missense_Mutation	39	70	1	0	4.01765e-15	0.009718	5.58978e-15	39	70				
SLC39A5	283375	broad.mit.edu	37	12	56629465	56629465	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:56629465G>A	ENST00000266980.4	+	6	1219	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309Q|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308Q(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCTTTTGCGGCACCGAGGG	0.632																																							uc010sqj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(925-927)CGG>CAG		solute carrier family 39 (metal ion							154.0	155.0	154.0					12																	56629465		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629465G>A		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.926G>A	12.37:g.56629465G>A	ENSP00000266980:p.Arg309Gln					SLC39A5_uc010sqi.1_Missense_Mutation_p.R200Q|SLC39A5_uc010sqk.1_Missense_Mutation_p.R309Q	p.R309Q	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN			8	1183	+			309			Cytoplasmic (Potential).		B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.926G>A	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442044	0.63067	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48201	0.82;0.82	3.7	2.81	0.32909	.	.	.	.	.	T	0.41419	0.1158	L	0.58510	1.815	0.28896	N	0.893563	B;B	0.19331	0.035;0.035	B;B	0.15870	0.014;0.006	T	0.38134	-0.9675	9	0.46703	T	0.11	-20.8821	7.3127	0.26483	0.1192:0.0:0.8808:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	Q	309	ENSP00000405360:R309Q;ENSP00000266980:R309Q	ENSP00000266980:R309Q	R	+	2	0	SLC39A5	54915732	0.995000	0.38212	0.928000	0.36995	0.985000	0.73830	1.134000	0.31442	1.143000	0.42306	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		10	316	0	0	0	0.008291	0	10	316				
DPY19L2	283417	broad.mit.edu	37	12	63974596	63974596	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:63974596G>T	ENST00000324472.4	-	19	1929	c.1746C>A	c.(1744-1746)cgC>cgA	p.R582R	DPY19L2_ENST00000413230.2_Silent_p.R29R	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	582					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R582R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AACGAACTCTGCGAAAAAGCC	0.368																																							uc001srp.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1744-1746)CGC>CGA		dpy-19-like 2							66.0	60.0	62.0					12																	63974596		2203	4300	6503	SO:0001819	synonymous_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63974596G>T		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1746C>A	12.37:g.63974596G>T						DPY19L2_uc010sso.1_Silent_p.R29R	p.R582R	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	19	1927	-			582					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	ENST00000324472.4	37	c.1746C>A	CCDS31851.1																																																																																				0.368	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		19	37	1	0	3.62473e-10	0.012319	4.62117e-10	19	37				
E2F7	144455	broad.mit.edu	37	12	77424063	77424063	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:77424063C>G	ENST00000322886.7	-	10	1667	c.1432G>C	c.(1432-1434)Gac>Cac	p.D478H	E2F7_ENST00000416496.2_Missense_Mutation_p.D478H	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	478					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|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 involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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)	p.D478H(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GCAACAGGGTCCAAGCTGCTT	0.468																																							uc001sym.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(1432-1434)GAC>CAC		E2F transcription factor 7							108.0	120.0	116.0					12																	77424063		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77424063C>G	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1432G>C	12.37:g.77424063C>G	ENSP00000323246:p.Asp478His					E2F7_uc009zse.2_5'UTR	p.D478H	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			10	1668	-			478					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.1432G>C	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579883	0.46006	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.19394	2.42;2.15;2.16	5.69	3.81	0.43845	.	0.539271	0.20312	N	0.094810	T	0.23846	0.0577	M	0.63428	1.95	0.09310	N	1	B	0.34015	0.435	B	0.38458	0.274	T	0.18366	-1.0339	10	0.59425	D	0.04	-8.733	6.9344	0.24459	0.0:0.693:0.0:0.307	.	478	Q96AV8	E2F7_HUMAN	H	478	ENSP00000323246:D478H;ENSP00000393639:D478H;ENSP00000448245:D478H	ENSP00000323246:D478H	D	-	1	0	E2F7	75948194	0.031000	0.19500	0.181000	0.23098	0.126000	0.20510	2.339000	0.43965	0.697000	0.31718	-0.136000	0.14681	GAC		0.468	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		67	159	0	0	0	0.01441	0	67	159				
IFT81	28981	broad.mit.edu	37	12	110574609	110574609	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:110574609G>A	ENST00000242591.5	+	8	1231	c.725G>A	c.(724-726)aGa>aAa	p.R242K	IFT81_ENST00000552912.1_Missense_Mutation_p.R242K|IFT81_ENST00000361948.4_Missense_Mutation_p.R242K	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	242					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.R242K(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGATTGCAAAGAGTACAAAAC	0.348																																							uc001tqi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(724-726)AGA>AAA		intraflagellar transport 81-like isoform 1							45.0	47.0	46.0					12																	110574609		2203	4300	6503	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110574609G>A	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.725G>A	12.37:g.110574609G>A	ENSP00000242591:p.Arg242Lys					IFT81_uc001tqh.2_Missense_Mutation_p.R242K|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.R242K	p.R242K	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			8	855	+			242			Potential.		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.725G>A	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954788	0.92726	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.35236	1.32	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.73962	2.25	0.80722	D	1	D;D	0.61697	0.965;0.99	P;D	0.72982	0.671;0.979	T	0.53450	-0.8437	10	0.16420	T	0.52	-21.0221	19.2411	0.93883	0.0:0.0:1.0:0.0	.	242;242	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	K	242;242;242;212	ENSP00000355372:R242K	ENSP00000242591:R242K	R	+	2	0	IFT81	109058992	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.651000	0.91078	2.601000	0.87937	0.655000	0.94253	AGA		0.348	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		11	30	0	0	0	0.001855	0	11	30				
ACAD10	80724	broad.mit.edu	37	12	112174763	112174763	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:112174763C>T	ENST00000313698.4	+	12	1824	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	ACAD10_ENST00000455480.2_Missense_Mutation_p.R588C|ACAD10_ENST00000549590.1_Missense_Mutation_p.R557C|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.R159C	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	557						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R557C(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTCCTTTTTCCGTGTGGCTGC	0.532																																							uc001tsq.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(1669-1671)CGT>TGT		acyl-Coenzyme A dehydrogenase family, member 10							122.0	111.0	114.0					12																	112174763		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112174763C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1669C>T	12.37:g.112174763C>T	ENSP00000325137:p.Arg557Cys					ACAD10_uc001tsp.2_Missense_Mutation_p.R557C|ACAD10_uc009zvx.2_Missense_Mutation_p.R588C|ACAD10_uc001tss.1_RNA	p.R557C	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			12	1869	+			557					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1669C>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465647	0.63513	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.29	5.29	0.74685	Protein kinase-like domain (1);	0.112167	0.56097	D	0.000022	T	0.66906	0.2837	M	0.92122	3.275	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.965;0.942	T	0.73936	-0.3825	10	0.62326	D	0.03	.	11.9504	0.52952	0.2909:0.7091:0.0:0.0	.	588;557;557	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	C	159;557;557;588;557	ENSP00000376411:R159C;ENSP00000446959:R557C;ENSP00000389813:R588C;ENSP00000325137:R557C	ENSP00000325137:R557C	R	+	1	0	ACAD10	110659146	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	1.984000	0.40658	2.483000	0.83821	0.561000	0.74099	CGT		0.532	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		4	123	0	0	0	0.009096	0	4	123				
IQCD	115811	broad.mit.edu	37	12	113645421	113645421	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:113645421A>G	ENST00000416617.2	-	2	741	c.551T>C	c.(550-552)aTt>aCt	p.I184T	IQCD_ENST00000546692.1_Missense_Mutation_p.I184T|IQCD_ENST00000299732.2_Missense_Mutation_p.I184T			Q96DY2	IQCD_HUMAN	IQ motif containing D	184								p.I184T(1)		endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CAGGCTGTCAATAAAATTCTG	0.498																																							uc001tuv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)ATT>ACT		IQ motif containing D							92.0	88.0	90.0					12																	113645421		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645421A>G	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.551T>C	12.37:g.113645421A>G	ENSP00000400669:p.Ile184Thr					IQCD_uc001tuu.2_Missense_Mutation_p.I184T	p.I184T	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN			2	973	-			184					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.551T>C		.	.	.	.	.	.	.	.	.	.	A	13.40	2.226204	0.39300	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.08984	3.03;3.03;3.03	5.25	5.25	0.73442	.	0.583818	0.16599	N	0.207404	T	0.18509	0.0444	M	0.68952	2.095	0.09310	N	1	P;P	0.47910	0.902;0.557	P;B	0.49192	0.602;0.299	T	0.04509	-1.0946	10	0.87932	D	0	-8.9415	14.1294	0.65242	1.0:0.0:0.0:0.0	.	184;184	F8VZV9;Q96DY2-2	.;.	T	184	ENSP00000299732:I184T;ENSP00000400669:I184T;ENSP00000446623:I184T	ENSP00000299732:I184T	I	-	2	0	IQCD	112129804	0.164000	0.22935	0.004000	0.12327	0.039000	0.13416	4.675000	0.61619	1.977000	0.57605	0.460000	0.39030	ATT		0.498	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		3	132	0	0	0	0.004672	0	3	132				
TBX3	6926	broad.mit.edu	37	12	115120699	115120699	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:115120699G>T	ENST00000257566.3	-	1	696	c.307C>A	c.(307-309)Ccc>Acc	p.P103T	TBX3_ENST00000349155.2_Missense_Mutation_p.P103T	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	103					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P103T(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCACCTTGGGGTCGTCCTCC	0.622																																							uc001tvt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(307-309)CCC>ACC		T-box 3 protein isoform 2							43.0	46.0	45.0					12																	115120699		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120699G>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.307C>A	12.37:g.115120699G>T	ENSP00000257566:p.Pro103Thr					TBX3_uc001tvu.1_Missense_Mutation_p.P103T|TBX3_uc010syw.1_Missense_Mutation_p.P103T	p.P103T	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1271	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		103					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.307C>A	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667423	0.88348	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89415	-2.51;-2.51	5.32	5.32	0.75619	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93919	0.8054	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.985;0.997;0.993	D	0.92551	0.6050	10	0.33141	T	0.24	.	19.0084	0.92861	0.0:0.0:1.0:0.0	.	103;103;103	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	T	103	ENSP00000257567:P103T;ENSP00000257566:P103T	ENSP00000257566:P103T	P	-	1	0	TBX3	113605082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.489000	0.83994	0.655000	0.94253	CCC		0.622	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		22	49	1	0	1.1804e-14	0.003954	1.62813e-14	22	49				
ZCCHC8	55596	broad.mit.edu	37	12	122958283	122958283	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:122958283C>A	ENST00000336229.4	-	14	2015	c.1885G>T	c.(1885-1887)Gtc>Ttc	p.V629F	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.V391F|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.V240F|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.V391F	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	629					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V629F(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTGGTACGACACTGCCATTA	0.498																																							uc001ucn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1885-1887)GTC>TTC		zinc finger, CCHC domain containing 8							156.0	155.0	155.0					12																	122958283		1960	4141	6101	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958283C>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1885G>T	12.37:g.122958283C>A	ENSP00000337313:p.Val629Phe					ZCCHC8_uc001ucl.2_Missense_Mutation_p.V240F|ZCCHC8_uc001ucm.2_Missense_Mutation_p.V391F|ZCCHC8_uc009zxp.2_Missense_Mutation_p.V391F|ZCCHC8_uc009zxq.2_Missense_Mutation_p.V391F	p.V629F	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	14	2016	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		629					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	C	12.71	2.020098	0.35606	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.48201	0.85;0.85;0.84;0.82	5.61	2.76	0.32466	.	0.691441	0.14595	N	0.310026	T	0.34774	0.0909	L	0.60455	1.87	0.09310	N	1	P	0.34780	0.468	B	0.24541	0.054	T	0.25847	-1.0120	10	0.40728	T	0.16	-3.275	3.7219	0.08460	0.1146:0.3922:0.3475:0.1457	.	629	Q6NZY4	ZCHC8_HUMAN	F	391;391;629;240	ENSP00000441423:V391F;ENSP00000438993:V391F;ENSP00000337313:V629F;ENSP00000440028:V240F	ENSP00000337313:V629F	V	-	1	0	ZCCHC8	121524236	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.352000	0.20113	0.302000	0.22762	0.650000	0.86243	GTC		0.498	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		13	251	1	0	2.27111e-07	0.013537	2.70169e-07	13	251				
PIWIL1	9271	broad.mit.edu	37	12	130841526	130841526	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:130841526G>T	ENST00000245255.3	+	13	1740	c.1468G>T	c.(1468-1470)Gtt>Ttt	p.V490F		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	490					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.V490F(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATTAATTAGTGTTAAGCCACT	0.368																																							uc001uik.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1468-1470)GTT>TTT		piwi-like 1							106.0	99.0	101.0					12																	130841526		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130841526G>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1468G>T	12.37:g.130841526G>T	ENSP00000245255:p.Val490Phe					PIWIL1_uc001uij.1_Missense_Mutation_p.V490F	p.V490F	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	13	1558	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		490					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1468G>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.865138	0.51482	.	.	ENSG00000125207	ENST00000245255	T	0.06142	3.34	5.41	4.48	0.54585	Ribonuclease H-like (1);	0.299706	0.36444	N	0.002591	T	0.12390	0.0301	M	0.61703	1.905	0.09310	N	1	P;P	0.40302	0.712;0.659	B;B	0.43728	0.429;0.382	T	0.03945	-1.0990	10	0.59425	D	0.04	-16.1977	15.2689	0.73683	0.0:0.2547:0.7453:0.0	.	490;490	Q96J94;Q96J94-2	PIWL1_HUMAN;.	F	490	ENSP00000245255:V490F	ENSP00000245255:V490F	V	+	1	0	PIWIL1	129407479	0.012000	0.17670	0.558000	0.28319	0.934000	0.57294	1.546000	0.36179	2.512000	0.84698	0.655000	0.94253	GTT		0.368	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			18	80	1	0	1.00905e-13	0.008871	1.3682e-13	18	80				
MPHOSPH8	54737	broad.mit.edu	37	13	20221403	20221403	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr13:20221403G>T	ENST00000361479.5	+	3	1258	c.1190G>T	c.(1189-1191)gGc>gTc	p.G397V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.G397V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	397					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)	p.G397V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAAGAGAGAGGCCTCTGGTCC	0.542																																							uc001umh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1189-1191)GGC>GTC		M-phase phosphoprotein 8							33.0	35.0	34.0					13																	20221403		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20221403G>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1190G>T	13.37:g.20221403G>T	ENSP00000355388:p.Gly397Val					MPHOSPH8_uc001umf.1_Missense_Mutation_p.G397V|MPHOSPH8_uc001umg.2_Missense_Mutation_p.G397V|MPHOSPH8_uc001umi.2_Missense_Mutation_p.G94V	p.G397V	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	1199	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	397					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1190G>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511554	0.27036	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.39592	1.07;1.09	5.49	1.46	0.22682	.	1.359530	0.04434	N	0.369832	T	0.36552	0.0971	L	0.36672	1.1	0.09310	N	0.999999	B;B;B;B	0.18013	0.025;0.0;0.001;0.014	B;B;B;B	0.18871	0.023;0.0;0.003;0.01	T	0.32771	-0.9894	10	0.44086	T	0.13	.	9.7015	0.40189	0.0642:0.0:0.4707:0.4651	.	397;397;397;397	F5H8H9;Q99549;Q99549-2;B3KS10	.;MPP8_HUMAN;.;.	V	397	ENSP00000414663:G397V;ENSP00000355388:G397V	ENSP00000355388:G397V	G	+	2	0	MPHOSPH8	19119403	0.027000	0.19231	0.000000	0.03702	0.031000	0.12232	1.671000	0.37513	0.224000	0.20940	0.585000	0.79938	GGC		0.542	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		14	22	1	0	6.94344e-10	0.006122	8.74764e-10	14	22				
BRCA2	675	broad.mit.edu	37	13	32907276	32907276	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr13:32907276G>T	ENST00000380152.3	+	10	1894	c.1661G>T	c.(1660-1662)tGt>tTt	p.C554F	BRCA2_ENST00000544455.1_Missense_Mutation_p.C554F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	554			C -> W (in BC and pancreas cancer). {ECO:0000269|PubMed:9654203}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.C554F(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACTCCTTATGTCCAAATTTA	0.383			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(1660-1662)TGT>TTT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							74.0	82.0	79.0					13																	32907276		2203	4300	6503	SO:0001583	missense	675	FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907276G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1661G>T	13.37:g.32907276G>T	ENSP00000369497:p.Cys554Phe	TCGA Ovarian(8;0.087)				BRCA2_uc001uua.1_Missense_Mutation_p.C431F	p.C554F	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1888	+		Lung SC(185;0.0262)	554		C -> W (in BC and pancreas cancer).			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.1661G>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	9.158	1.017867	0.19355	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.01051	5.4;5.4	5.5	2.51	0.30379	.	0.352420	0.28279	N	0.015925	T	0.01254	0.0041	L	0.55481	1.735	0.09310	N	1	B;B	0.26775	0.117;0.159	B;B	0.22386	0.028;0.039	T	0.47959	-0.9076	10	0.72032	D	0.01	.	1.8673	0.03201	0.1773:0.2102:0.465:0.1474	.	554;554	P51587;A1YBP1	BRCA2_HUMAN;.	F	554;554;552	ENSP00000369497:C554F;ENSP00000439902:C554F	ENSP00000369497:C554F	C	+	2	0	BRCA2	31805276	0.001000	0.12720	0.036000	0.18154	0.040000	0.13550	0.332000	0.19751	0.764000	0.33197	0.650000	0.86243	TGT		0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		46	48	1	0	5.7616e-29	0.01441	8.95006e-29	46	48				
AHNAK2	113146	broad.mit.edu	37	14	105412026	105412026	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:105412026G>T	ENST00000333244.5	-	7	9881	c.9762C>A	c.(9760-9762)gaC>gaA	p.D3254E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3254						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.D3254D(1)|p.D3254E(1)		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)			GGCCTTTCAGGTCCAGCTTGG	0.607																																							uc010axc.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(9760-9762)GAC>GAA		AHNAK nucleoprotein 2							113.0	82.0	92.0					14																	105412026		1860	4069	5929	SO:0001583	missense	113146					nucleus		g.chr14:105412026G>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.9762C>A	14.37:g.105412026G>T	ENSP00000353114:p.Asp3254Glu					AHNAK2_uc001ypx.2_Missense_Mutation_p.D3154E	p.D3254E	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	9882	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3254					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9762C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.00	1.807737	0.31961	.	.	ENSG00000185567	ENST00000333244	T	0.01804	4.63	3.8	0.611	0.17586	.	.	.	.	.	T	0.03220	0.0094	M	0.66560	2.04	0.09310	N	1	P	0.48230	0.907	P	0.49477	0.612	T	0.39313	-0.9620	9	0.16896	T	0.51	.	4.0855	0.09945	0.0874:0.2896:0.4743:0.1487	.	3254	Q8IVF2	AHNK2_HUMAN	E	3254	ENSP00000353114:D3254E	ENSP00000353114:D3254E	D	-	3	2	AHNAK2	104483071	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	-0.136000	0.10405	-0.230000	0.09840	0.491000	0.48974	GAC		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		17	121	1	0	2.81731e-10	0.010818	3.60616e-10	17	121				
AHNAK2	113146	broad.mit.edu	37	14	105412521	105412521	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:105412521G>T	ENST00000333244.5	-	7	9386	c.9267C>A	c.(9265-9267)gaC>gaA	p.D3089E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3089						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.D3089D(1)|p.D3089E(1)		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)			GGCCTTTCAGGTCCAGCTTGG	0.612																																							uc010axc.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(9265-9267)GAC>GAA		AHNAK nucleoprotein 2							87.0	91.0	90.0					14																	105412521		1859	4080	5939	SO:0001583	missense	113146					nucleus		g.chr14:105412521G>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.9267C>A	14.37:g.105412521G>T	ENSP00000353114:p.Asp3089Glu					AHNAK2_uc001ypx.2_Missense_Mutation_p.D2989E	p.D3089E	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	9387	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3089					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9267C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	9.765	1.171065	0.21621	.	.	ENSG00000185567	ENST00000333244	T	0.02050	4.48	2.85	0.754	0.18410	.	.	.	.	.	T	0.03871	0.0109	M	0.79258	2.445	0.20196	N	0.999928	B	0.31435	0.323	B	0.34931	0.192	T	0.39313	-0.9620	9	0.22706	T	0.39	-22.0206	6.0361	0.19708	0.0:0.2112:0.5714:0.2173	.	3089	Q8IVF2	AHNK2_HUMAN	E	3089	ENSP00000353114:D3089E	ENSP00000353114:D3089E	D	-	3	2	AHNAK2	104483566	0.000000	0.05858	0.032000	0.17829	0.148000	0.21650	-1.769000	0.01792	0.059000	0.16252	0.306000	0.20318	GAC		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	120	1	0	3.8784e-16	0.012319	5.49155e-16	11	120				
GJD2	57369	broad.mit.edu	37	15	35045068	35045068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:35045068C>A	ENST00000290374.4	-	2	1053	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	193					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GAGATGCCTTCCTGCCTTCTG	0.488																																							uc001zis.1		NA																	0					0						c.(577-579)GAA>TAA		gap junction protein, delta 2, 36kDa							129.0	135.0	133.0					15																	35045068		2201	4298	6499	SO:0001587	stop_gained	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045068C>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.577G>T	15.37:g.35045068C>A	ENSP00000290374:p.Glu193*					uc001zit.1_5'Flank	p.E193*	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	577	-		all_lung(180;9.67e-07)	193			Cytoplasmic (Potential).		Q2M241|Q9P2R0	Nonsense_Mutation	SNP	ENST00000290374.4	37	c.577G>T	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	41	8.825471	0.98968	.	.	ENSG00000159248	ENST00000290374	.	.	.	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000290374:E193X	E	-	1	0	GJD2	32832360	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	GAA		0.488	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			78	86	1	0	9.59377e-39	0.01441	1.60733e-38	78	86				
MAPKBP1	23005	broad.mit.edu	37	15	42109166	42109166	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:42109166G>T	ENST00000456763.2	+	15	1858	c.1662G>T	c.(1660-1662)ggG>ggT	p.G554G	MAPKBP1_ENST00000514566.1_Silent_p.G548G|MAPKBP1_ENST00000457542.2_Silent_p.G548G|MAPKBP1_ENST00000221214.6_Silent_p.G431G|MAPKBP1_ENST00000260357.7_Silent_p.G387G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	554								p.G548G(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGGATGCCGGGCGGGAGTACA	0.582																																							uc001zok.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1660-1662)GGG>GGT		mitogen-activated protein kinase binding protein							96.0	93.0	94.0					15																	42109166		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42109166G>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1662G>T	15.37:g.42109166G>T						MAPKBP1_uc001zoj.3_Silent_p.G548G|MAPKBP1_uc010bcj.2_Silent_p.G55G|MAPKBP1_uc010bci.2_Silent_p.G548G|MAPKBP1_uc010udb.1_Silent_p.G387G|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.G55G	p.G554G	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	15	1948	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	554			WD 8.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.1662G>T	CCDS45239.1																																																																																				0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		30	55	1	0	8.4185e-14	0.012213	1.14635e-13	30	55				
CTDSPL2	51496	broad.mit.edu	37	15	44806806	44806806	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:44806806G>C	ENST00000260327.4	+	9	1543	c.980G>C	c.(979-981)aGa>aCa	p.R327T	CTDSPL2_ENST00000396780.1_Missense_Mutation_p.R255T|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.R327T|CTD-2329K10.1_ENST00000561324.1_RNA|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.R255T	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	327	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						phosphoprotein phosphatase activity (GO:0004721)	p.R327T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GTTTATGTGAGATTAAGACCA	0.294																																							uc001ztr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(979-981)AGA>ACA		CTD (carboxy-terminal domain, RNA polymerase II,							127.0	120.0	122.0					15																	44806806		2198	4294	6492	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44806806G>C	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.980G>C	15.37:g.44806806G>C	ENSP00000260327:p.Arg327Thr					CTDSPL2_uc001zts.2_Missense_Mutation_p.R327T|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R327T|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R255T	p.R327T	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	9	1396	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	327			FCP1 homology.		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.980G>C	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317766	0.81469	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.17213	2.29;2.29	5.69	5.69	0.88448	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.79011	2.435	0.80722	D	1	D;P	0.76494	0.999;0.88	D;P	0.71414	0.973;0.758	T	0.12319	-1.0552	10	0.19147	T	0.46	-13.9979	17.9918	0.89171	0.0:0.0:1.0:0.0	.	255;327	Q05D32-2;Q05D32	.;CTSL2_HUMAN	T	327;255	ENSP00000260327:R327T;ENSP00000380000:R255T	ENSP00000260327:R327T	R	+	2	0	CTDSPL2	42594098	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.436000	0.97532	2.690000	0.91761	0.655000	0.94253	AGA		0.294	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		14	40	0	0	0	0.00499	0	14	40				
SEMA6D	80031	broad.mit.edu	37	15	48063372	48063372	+	Missense_Mutation	SNP	G	G	A	rs190295873		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:48063372G>A	ENST00000316364.5	+	19	3051	c.2612G>A	c.(2611-2613)cGt>cAt	p.R871H	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R871H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R796H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R852H|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R809H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R809H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R815H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R809H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R828H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	871					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R871H(1)|p.R809H(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GATCACCGGCGTTCTGTTGAT	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20540	0.0		0.0	False		,,,				2504	0.0						uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(2611-2613)CGT>CAT		semaphorin 6D isoform 4 precursor		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,	0,4396		0,0,2198	87.0	81.0	83.0		2426,2426,2387,2444,2612,	5.6	1.0	15		83	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense,missense,utr-3	SEMA6D	NM_001198999.1,NM_020858.1,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	29,29,29,29,29,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	809/1012,809/1012,796/999,815/1018,871/1074,	48063372	1,12989	2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063372G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2612G>A	15.37:g.48063372G>A	ENSP00000324857:p.Arg871His					SEMA6D_uc001zvw.2_Missense_Mutation_p.R809H|SEMA6D_uc001zvy.2_Missense_Mutation_p.R871H|SEMA6D_uc001zvz.2_Missense_Mutation_p.R815H|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.R809H|SEMA6D_uc001zwc.2_Missense_Mutation_p.R796H	p.R871H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2972	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	871			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2612G>A	CCDS32225.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.36	2.810033	0.50421	0.0	1.16E-4	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.18338	2.23;2.22;2.22;2.25;2.23;2.23;2.23;2.22	5.58	5.58	0.84498	.	2.238510	0.01336	N	0.011408	T	0.40886	0.1135	L	0.44542	1.39	0.80722	D	1	B;P;D;P	0.76494	0.443;0.687;0.999;0.635	B;B;D;B	0.67231	0.054;0.119;0.95;0.05	T	0.36359	-0.9751	10	0.15952	T	0.53	.	19.5679	0.95403	0.0:0.0:1.0:0.0	.	796;815;871;809	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	H	809;871;871;852;828;815;809;796	ENSP00000442040:R809H;ENSP00000446152:R871H;ENSP00000324857:R871H;ENSP00000374084:R852H;ENSP00000374083:R828H;ENSP00000346786:R815H;ENSP00000350770:R809H;ENSP00000374079:R796H	ENSP00000324857:R871H	R	+	2	0	SEMA6D	45850664	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	6.407000	0.73280	2.613000	0.88420	0.563000	0.77884	CGT		0.443	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		24	82	0	0	0	0.00278	0	24	82				
IGDCC3	9543	broad.mit.edu	37	15	65621915	65621915	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:65621915A>G	ENST00000327987.4	-	13	2269	c.2018T>C	c.(2017-2019)gTg>gCg	p.V673A	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	673					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.V673A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGTTTTCCACATCTTTACA	0.612																																							uc002aos.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2017-2019)GTG>GCG		putative neuronal cell adhesion molecule							44.0	50.0	48.0					15																	65621915		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65621915A>G	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2018T>C	15.37:g.65621915A>G	ENSP00000332773:p.Val673Ala					IGDCC3_uc002aor.1_5'UTR	p.V673A	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			13	2270	-			673			Cytoplasmic (Potential).		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.2018T>C	CCDS10205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.84|16.84	3.234142|3.234142	0.58886|0.58886	.|.	.|.	ENSG00000174498|ENSG00000174498	ENST00000443278|ENST00000327987	.|T	.|0.66815	.|-0.23	5.95|5.95	2.49|2.49	0.30216|0.30216	.|.	.|0.151709	.|0.43579	.|N	.|0.000559	.|T	.|0.40040	.|0.1101	N|N	0.19112|0.19112	0.55|0.55	0.45490|0.45490	D|D	0.998454|0.998454	.|P	.|0.43750	.|0.816	.|B	.|0.36766	.|0.232	.|T	.|0.44667	.|-0.9313	.|10	.|0.05833	.|T	.|0.94	.|-8.5848	8.3472|8.3472	0.32281|0.32281	0.7953:0.0:0.2047:0.0|0.7953:0.0:0.2047:0.0	.|.	.|673	.|Q8IVU1	.|IGDC3_HUMAN	.|A	-1|673	.|ENSP00000332773:V673A	.|ENSP00000332773:V673A	.|V	-|-	.|2	.|0	IGDCC3|IGDCC3	63408968|63408968	0.991000|0.991000	0.36638|0.36638	0.970000|0.970000	0.41538|0.41538	0.882000|0.882000	0.50991|0.50991	4.205000|4.205000	0.58466|0.58466	0.522000|0.522000	0.28464|0.28464	0.533000|0.533000	0.62120|0.62120	.|GTG		0.612	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		33	57	0	0	0	0.003271	0	33	57				
MSLNL	401827	broad.mit.edu	37	16	830202	830202	+	Intron	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:830202G>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.P267T			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P267T(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCGGGAGCAGGGGCCGGGGCA	0.677																																							uc002cjz.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(799-801)CCT>ACT		mesothelin-like							17.0	23.0	21.0					16																	830202		1892	4105	5997	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830202G>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-40C>A	16.37:g.830202G>T							p.P267T	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			3	799	-			512			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442466.1	37	c.799C>A		.	.	.	.	.	.	.	.	.	.	G	14.99	2.699202	0.48307	.	.	ENSG00000162006	ENST00000293892	T	0.18810	2.19	2.87	2.87	0.33458	.	3.817250	0.01010	N	0.003814	T	0.22244	0.0536	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31613	-0.9937	6	.	.	.	4.0037	11.9478	0.52938	0.0:0.0:1.0:0.0	.	.	.	.	T	267	ENSP00000293892:P267T	.	P	-	1	0	MSLNL	770203	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	0.212000	0.17497	1.926000	0.55796	0.467000	0.42956	CCT		0.677	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		4	27	1	0	5.9392e-07	0.001168	6.9617e-07	4	27				
ACSM2A	123876	broad.mit.edu	37	16	20491954	20491954	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:20491954G>A	ENST00000573854.1	+	11	1455	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	ACSM2A_ENST00000396104.2_Silent_p.R447R|ACSM2A_ENST00000417235.2_Silent_p.R368R|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.R219R|ACSM2A_ENST00000219054.6_Silent_p.R447R|ACSM2A_ENST00000575690.1_Silent_p.R447R	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	447					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.R447R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGAGACCGGGGAATCAAAG	0.493																																							uc010bwe.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(1339-1341)CGG>CGA		acyl-CoA synthetase medium-chain family member							67.0	61.0	63.0					16																	20491954		2202	4295	6497	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20491954G>A	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.1341G>A	16.37:g.20491954G>A						ACSM2A_uc010vax.1_Silent_p.R368R|ACSM2A_uc002dhf.3_Silent_p.R447R|ACSM2A_uc002dhg.3_Silent_p.R447R|ACSM2A_uc010vay.1_Silent_p.R368R|ACSM2A_uc002dhh.3_Silent_p.R77R	p.R447R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			12	1580	+			447					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1341G>A	CCDS32401.1																																																																																				0.493	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		14	74	0	0	0	0.005443	0	14	74				
ACSM2B	348158	broad.mit.edu	37	16	20554525	20554525	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:20554525C>T	ENST00000329697.6	-	11	1509	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565232.1_Silent_p.R447R|ACSM2B_ENST00000567001.1_Silent_p.R447R|ACSM2B_ENST00000565322.1_Silent_p.R368R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	447					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R447R(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTTTGATTCCCCGGTCTCCAA	0.493																																							uc002dhj.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1339-1341)CGG>CGA		acyl-CoA synthetase medium-chain family member							180.0	205.0	196.0					16																	20554525		2200	4296	6496	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554525C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1341G>A	16.37:g.20554525C>T						ACSM2B_uc002dhk.3_Silent_p.R447R|ACSM2B_uc010bwf.1_Silent_p.R447R	p.R447R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			12	1551	-			447					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.1341G>A	CCDS10586.1																																																																																				0.493	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		29	375	0	0	0	0.012213	0	29	375				
SLC5A2	6524	broad.mit.edu	37	16	31498858	31498858	+	Silent	SNP	C	C	T	rs562917404		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:31498858C>T	ENST00000330498.3	+	7	682	c.663C>T	c.(661-663)caC>caT	p.H221H	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	221					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.H221H(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CAGCCTTCCACGAGGTGGGCG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		14893	0.0		0.0	False		,,,				2504	0.001						uc002ecf.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(661-663)CAC>CAT		solute carrier family 5 (sodium/glucose							56.0	60.0	59.0					16																	31498858		2197	4300	6497	SO:0001819	synonymous_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31498858C>T		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.663C>T	16.37:g.31498858C>T						SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	p.H221H	NM_003041	NP_003032	P31639	SC5A2_HUMAN			7	682	+			221			Helical; (Potential).		A2RRD2	Silent	SNP	ENST00000330498.3	37	c.663C>T	CCDS10714.1																																																																																				0.657	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			18	88	0	0	0	0.00278	0	18	88				
MYLK3	91807	broad.mit.edu	37	16	46764575	46764575	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:46764575G>C	ENST00000394809.4	-	5	1613	c.1498C>G	c.(1498-1500)Cgg>Ggg	p.R500G	MYLK3_ENST00000536476.1_Missense_Mutation_p.R159G	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	500					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.R579G(1)|p.R500G(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCACTACCCGGTGTTCAAAA	0.607																																							uc002eei.3		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(1498-1500)CGG>GGG		myosin light chain kinase 3							139.0	123.0	129.0					16																	46764575		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46764575G>C	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1498C>G	16.37:g.46764575G>C	ENSP00000378288:p.Arg500Gly					MYLK3_uc010vge.1_Missense_Mutation_p.R159G|MYLK3_uc002eej.1_Missense_Mutation_p.R159G	p.R500G	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			5	1614	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	500					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1498C>G	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199784	0.79015	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.70986	-0.53;-0.43	5.26	4.29	0.51040	Protein kinase-like domain (1);	0.000000	0.32518	N	0.005982	D	0.83303	0.5225	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.77557	0.938;0.99	D	0.85435	0.1151	10	0.72032	D	0.01	.	14.0465	0.64708	0.0:0.0:0.8474:0.1526	.	500;500	B5BUL9;Q32MK0	.;MYLK3_HUMAN	G	500;159	ENSP00000378288:R500G;ENSP00000439297:R159G	ENSP00000378288:R500G	R	-	1	2	MYLK3	45322076	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.478000	0.81082	1.186000	0.42985	0.591000	0.81541	CGG		0.607	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		41	43	0	0	0	0.011902	0	41	43				
HYDIN	54768	broad.mit.edu	37	16	70896074	70896074	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:70896074C>A	ENST00000393567.2	-	69	11804	c.11654G>T	c.(11653-11655)gGt>gTt	p.G3885V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3885					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.G3884V(1)|p.G3836V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTGGGGAACCCTCGGCCCA	0.562																																							uc002ezr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(11650-11652)GGT>GTT		hydrocephalus inducing isoform a							40.0	42.0	41.0					16																	70896074		1937	4137	6074	SO:0001583	missense	54768							g.chr16:70896074C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11654G>T	16.37:g.70896074C>A	ENSP00000377197:p.Gly3885Val					HYDIN_uc010cfy.2_RNA	p.G3884V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			69	11779	-		Ovarian(137;0.0654)	3885					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11651G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653359	0.29425	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	5.97	-7.66	0.01277	.	1.928600	0.04403	N	0.364666	T	0.00468	0.0015	N	0.02011	-0.69	0.09310	N	0.999999	B	0.15930	0.015	B	0.15484	0.013	T	0.51204	-0.8735	10	0.28530	T	0.3	.	6.6089	0.22741	0.0853:0.1103:0.5494:0.2551	.	3884	F8WD23	.	V	3885;3884	ENSP00000377197:G3885V	ENSP00000313052:G3884V	G	-	2	0	HYDIN	69453575	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-1.453000	0.02383	-0.792000	0.04480	0.511000	0.50034	GGT		0.562	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			12	19	1	0	0.000978159	0.010729	0.00106105	12	19				
PMFBP1	83449	broad.mit.edu	37	16	72159911	72159911	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:72159911T>G	ENST00000237353.10	-	15	2470	c.2209A>C	c.(2209-2211)Aag>Cag	p.K737Q	PMFBP1_ENST00000355636.6_Missense_Mutation_p.K592Q|PMFBP1_ENST00000537792.1_5'Flank|PMFBP1_ENST00000537465.1_Missense_Mutation_p.K742Q	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	742						cytoplasm (GO:0005737)		p.K737Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCGGCTGACTTCCGGGATAAT	0.542																																							uc002fcc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2224-2226)AAG>CAG		polyamine modulated factor 1 binding protein 1							136.0	137.0	136.0					16																	72159911		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72159911T>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2209A>C	16.37:g.72159911T>G	ENSP00000237353:p.Lys737Gln					PMFBP1_uc002fcd.2_Missense_Mutation_p.K737Q|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.K592Q|PMFBP1_uc010cgo.1_Missense_Mutation_p.K33Q	p.K742Q	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			15	2396	-		Ovarian(137;0.179)	742					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.2224A>C	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294526	0.40594	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.24908	1.83;1.83;1.83	4.21	4.21	0.49690	.	0.000000	0.45606	D	0.000351	T	0.39886	0.1095	M	0.68317	2.08	0.24382	N	0.994782	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.994	T	0.32981	-0.9886	10	0.02654	T	1	-30.8966	9.8752	0.41200	0.0:0.0:0.0:1.0	.	742;737;742	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	Q	742;737;592	ENSP00000443817:K742Q;ENSP00000237353:K737Q;ENSP00000347854:K592Q	ENSP00000237353:K737Q	K	-	1	0	PMFBP1	70717412	0.993000	0.37304	0.820000	0.32676	0.144000	0.21451	3.537000	0.53590	1.896000	0.54893	0.528000	0.53228	AAG		0.542	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		52	66	0	0	0	0.01441	0	52	66				
MED24	9862	broad.mit.edu	37	17	38179414	38179414	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:38179414G>A	ENST00000394128.2	-	20	2301	c.2220C>T	c.(2218-2220)ggC>ggT	p.G740G	MED24_ENST00000394127.2_Silent_p.G727G|MED24_ENST00000356271.3_Silent_p.G727G|MED24_ENST00000501516.3_Silent_p.G759G|MED24_ENST00000394126.1_Silent_p.G765G	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	740					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G740G(2)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACCAGTAGACGCCGCCCATGT	0.592																																							uc002htt.2		NA																	2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(2218-2220)GGC>GGT		mediator complex subunit 24 isoform 1							67.0	63.0	64.0					17																	38179414		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38179414G>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2220C>T	17.37:g.38179414G>A						MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Silent_p.G75G|MED24_uc010wes.1_Silent_p.G600G|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.G765G|MED24_uc002htu.2_Silent_p.G727G|MED24_uc010cwn.2_Silent_p.G727G|MED24_uc010weu.1_Silent_p.G650G|MED24_uc010wev.1_Silent_p.G690G|MED24_uc010wew.1_Silent_p.G681G	p.G740G	NM_014815	NP_055630	O75448	MED24_HUMAN			20	2533	-	Colorectal(19;0.000442)		740					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.2220C>T	CCDS11359.1																																																																																				0.592	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		17	27	0	0	0	0.007413	0	17	27				
KRT17	3872	broad.mit.edu	37	17	39778677	39778677	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:39778677C>A	ENST00000311208.8	-	3	669	c.602G>T	c.(601-603)aGa>aTa	p.R201I	JUP_ENST00000540235.1_Missense_Mutation_p.R360I	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	201	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)	p.R201I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CAGGTCGGCTCTGGCCAGGGT	0.602																																					Pancreas(92;1242 2086 39193 50508)	Pancreas(92;1242 2086 39193 50508)	uc002hxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(601-603)AGA>ATA		keratin 17							75.0	78.0	77.0					17																	39778677		2203	4300	6503	SO:0001583	missense	3872	Steatocystoma_Multiplex			epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39778677C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.602G>T	17.37:g.39778677C>A	ENSP00000308452:p.Arg201Ile					JUP_uc010wfs.1_Intron	p.R201I	NM_000422	NP_000413	Q04695	K1C17_HUMAN			3	723	-		Breast(137;0.000307)	201			Coil 1B.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.602G>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116978	0.77323	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.91686	-2.89;-2.89	3.87	3.87	0.44632	Prefoldin (1);Filament (1);	0.000000	0.46442	D	0.000283	D	0.95987	0.8693	M	0.91920	3.255	0.44635	D	0.997619	D	0.57257	0.979	D	0.65573	0.936	D	0.96063	0.9040	10	0.87932	D	0	.	10.1206	0.42618	0.0:0.9072:0.0:0.0928	.	201	Q04695	K1C17_HUMAN	I	201;360	ENSP00000308452:R201I;ENSP00000441751:R360I	ENSP00000441751:R360I	R	-	2	0	JUP;KRT17	37032203	0.939000	0.31865	1.000000	0.80357	0.981000	0.71138	2.039000	0.41193	2.164000	0.68074	0.655000	0.94253	AGA		0.602	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		74	124	1	0	1.15773e-35	0.01441	1.85237e-35	74	124				
DBF4B	80174	broad.mit.edu	37	17	42825784	42825784	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:42825784C>T	ENST00000315005.3	+	13	1278	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	DBF4B_ENST00000393547.2_Silent_p.P380P	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	380					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.P380P(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCCCATCCCAGGGCAGCAT	0.582																																							uc002ihf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1138-1140)CCC>CCT		DBF4 homolog B isoform 1							145.0	123.0	131.0					17																	42825784		2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42825784C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1140C>T	17.37:g.42825784C>T						DBF4B_uc002ihe.2_Silent_p.P194P|DBF4B_uc010wjc.1_Silent_p.P364P	p.P380P	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			13	1353	+		Prostate(33;0.0322)	380					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1140C>T	CCDS11485.1																																																																																				0.582	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		30	160	0	0	0	0.012213	0	30	160				
TUBD1	51174	broad.mit.edu	37	17	57968330	57968330	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:57968330C>A	ENST00000592426.1	-	1	34	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000376094.4_Missense_Mutation_p.G12C|RPS6KB1_ENST00000393021.3_5'Flank|TUBD1_ENST00000539018.1_Intron|RPS6KB1_ENST00000225577.4_5'Flank|TUBD1_ENST00000394239.3_Missense_Mutation_p.G12C|TUBD1_ENST00000325752.3_Missense_Mutation_p.G12C|TUBD1_ENST00000346141.6_Missense_Mutation_p.G12C|RPS6KB1_ENST00000443572.2_5'Flank|RPS6KB1_ENST00000406116.3_5'Flank|TUBD1_ENST00000340993.6_Missense_Mutation_p.G12C			Q9UJT1	TBD_HUMAN	tubulin, delta 1	12					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.G12C(1)		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)	ATCTGATTGCCACACTGACCA	0.408																																							uc002ixw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(34-36)GGC>TGC		delta-tubulin							150.0	131.0	137.0					17																	57968330		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57968330C>A	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.34G>T	17.37:g.57968330C>A	ENSP00000468518:p.Gly12Cys					TUBD1_uc010ddf.1_Missense_Mutation_p.G12C|TUBD1_uc010ddg.1_Intron|TUBD1_uc010ddh.1_5'UTR|TUBD1_uc010wok.1_Missense_Mutation_p.G12C|TUBD1_uc002ixx.1_Missense_Mutation_p.G12C|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Missense_Mutation_p.G12C|RPS6KB1_uc010ddj.1_5'Flank|RPS6KB1_uc002ixy.2_5'Flank|RPS6KB1_uc010wom.1_5'Flank|RPS6KB1_uc010won.1_5'Flank	p.G12C	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		2	312	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		12					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.34G>T	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488865	0.84962	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000376094	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	6.04	5.06	0.68205	Tubulin/FtsZ, GTPase domain (3);	0.047597	0.85682	D	0.000000	D	0.97142	0.9066	H	0.96833	3.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.993;0.994;0.999;0.999	D	0.98681	1.0692	10	0.87932	D	0	-5.4558	17.6466	0.88150	0.0:0.8772:0.1228:0.0	.	12;12;12;12;12	E9PCA7;Q9UJT1-3;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	C	12	ENSP00000320797:G12C;ENSP00000342399:G12C;ENSP00000342561:G12C;ENSP00000377785:G12C;ENSP00000365262:G12C	ENSP00000320797:G12C	G	-	1	0	TUBD1	55323112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.206000	0.77891	1.557000	0.49525	0.650000	0.86243	GGC		0.408	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		42	88	1	0	5.44703e-19	0.009718	7.85157e-19	42	88				
HELZ	9931	broad.mit.edu	37	17	65082999	65082999	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:65082999G>C	ENST00000358691.5	-	32	5606	c.5440C>G	c.(5440-5442)Cag>Gag	p.Q1814E	HELZ_ENST00000580168.1_Missense_Mutation_p.Q1815E	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1814						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q1814E(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGAATGTTCTGATAAGGAGTA	0.478																																							uc010wqk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(5443-5445)CAG>GAG		helicase with zinc finger domain							152.0	157.0	155.0					17																	65082999		2027	4194	6221	SO:0001583	missense	9931							g.chr17:65082999G>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5440C>G	17.37:g.65082999G>C	ENSP00000351524:p.Gln1814Glu					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1814E	p.Q1815E	NM_014877	NP_055692					32	5630	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5443C>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843072	0.51057	.	.	ENSG00000198265	ENST00000358691	D	0.84370	-1.84	5.91	5.91	0.95273	.	0.171932	0.53938	D	0.000055	T	0.80019	0.4547	L	0.27053	0.805	0.50171	D	0.999856	B;B	0.27791	0.189;0.189	B;B	0.26770	0.073;0.073	T	0.75121	-0.3429	10	0.44086	T	0.13	-13.2068	20.2885	0.98538	0.0:0.0:1.0:0.0	.	1815;1814	B7ZLW2;P42694	.;HELZ_HUMAN	E	1814	ENSP00000351524:Q1814E	ENSP00000351524:Q1814E	Q	-	1	0	HELZ	62513461	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	9.102000	0.94226	2.791000	0.96007	0.650000	0.86243	CAG		0.478	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		33	172	0	0	0	0.003755	0	33	172				
UNC13D	201294	broad.mit.edu	37	17	73832735	73832735	+	Missense_Mutation	SNP	C	C	T	rs149099554		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:73832735C>T	ENST00000207549.4	-	14	1595	c.1216G>A	c.(1216-1218)Ggc>Agc	p.G406S	UNC13D_ENST00000412096.2_Missense_Mutation_p.G406S	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	406	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.G406S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGAGAGGCCGTAGGTCAGC	0.637									Familial Hemophagocytic Lymphohistiocytosis																														uc002jpp.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1216-1218)GGC>AGC		unc-13 homolog D		C	SER/GLY	0,4406	2.1+/-5.4	0,0,2203	54.0	60.0	58.0		1216	3.4	0.8	17	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	yes	missense	UNC13D	NM_199242.2	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	406/1091	73832735	2,13004	2203	4300	6503	SO:0001583	missense	201294	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73832735C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1216G>A	17.37:g.73832735C>T	ENSP00000207549:p.Gly406Ser					UNC13D_uc010wsk.1_Missense_Mutation_p.G406S|UNC13D_uc002jpq.1_Missense_Mutation_p.G56S|UNC13D_uc010dgq.1_Missense_Mutation_p.G202S	p.G406S	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		14	1596	-			406			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1216G>A	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928989	0.73327	0.0	2.33E-4	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.68331	-0.3;-0.32	4.34	3.37	0.38596	.	0.000000	0.64402	D	0.000001	T	0.72260	0.3438	L	0.47716	1.5	0.43857	D	0.996457	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.988	T	0.66929	-0.5799	10	0.13470	T	0.59	-10.9574	12.1884	0.54254	0.0:0.9167:0.0:0.0833	.	406;406;406	B4DTQ6;Q70J99-3;Q70J99	.;.;UN13D_HUMAN	S	406	ENSP00000207549:G406S;ENSP00000388093:G406S	ENSP00000207549:G406S	G	-	1	0	UNC13D	71344330	1.000000	0.71417	0.777000	0.31699	0.919000	0.55068	5.819000	0.69243	1.052000	0.40392	0.561000	0.74099	GGC		0.637	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		20	60	0	0	0	0.00333	0	20	60				
TRIM47	91107	broad.mit.edu	37	17	73870695	73870695	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:73870695G>A	ENST00000254816.2	-	6	1812	c.1786C>T	c.(1786-1788)Cgc>Tgc	p.R596C	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.R358C	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	596	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R596C(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTCCAGGCGGCTCTGGAAG	0.657																																							uc002jpw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1786-1788)CGC>TGC		tripartite motif-containing 47							46.0	53.0	51.0					17																	73870695		2203	4300	6503	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870695G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1786C>T	17.37:g.73870695G>A	ENSP00000254816:p.Arg596Cys					TRIM47_uc002jpv.2_Missense_Mutation_p.R358C	p.R596C	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1813	-			596			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1786C>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213160	0.39102	.	.	ENSG00000132481	ENST00000254816	T	0.44083	0.93	5.18	1.77	0.24775	B30.2/SPRY domain (1);	0.348109	0.24640	N	0.036801	T	0.15782	0.0380	N	0.03608	-0.345	0.43342	D	0.995397	B	0.21688	0.059	B	0.08055	0.003	T	0.08229	-1.0732	10	0.87932	D	0	.	2.6718	0.05069	0.1001:0.1323:0.4828:0.2849	.	596	Q96LD4	TRI47_HUMAN	C	596	ENSP00000254816:R596C	ENSP00000254816:R596C	R	-	1	0	TRIM47	71382290	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.677000	0.25262	1.160000	0.42584	0.561000	0.74099	CGC		0.657	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			43	105	0	0	0	0.01441	0	43	105				
SEC14L1	6397	broad.mit.edu	37	17	75187325	75187325	+	Silent	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:75187325T>C	ENST00000413679.2	+	5	579	c.276T>C	c.(274-276)acT>acC	p.T92T	SEC14L1_ENST00000430767.4_Silent_p.T92T|SEC14L1_ENST00000392476.2_Silent_p.T92T|SEC14L1_ENST00000436233.4_Silent_p.T92T|SEC14L1_ENST00000443798.4_Silent_p.T92T|SEC14L1_ENST00000585618.1_Silent_p.T92T|SEC14L1_ENST00000431431.2_Silent_p.T58T|SEC14L1_ENST00000591437.1_Silent_p.T58T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	92	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T92T(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGGAACGTACTTTGCACATTG	0.368																																							uc002jto.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(274-276)ACT>ACC		SEC14 (S. cerevisiae)-like 1 isoform a							151.0	145.0	147.0					17																	75187325		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75187325T>C	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.276T>C	17.37:g.75187325T>C						SEC14L1_uc010dhc.2_Silent_p.T92T|SEC14L1_uc010wth.1_Silent_p.T92T|SEC14L1_uc002jtm.2_Silent_p.T92T|SEC14L1_uc010wti.1_Silent_p.T58T	p.T92T	NM_003003	NP_002994	Q92503	S14L1_HUMAN			5	543	+			92			PRELI/MSF1.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.276T>C	CCDS11752.1																																																																																				0.368	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		4	251	0	0	0	0.009096	0	4	251				
GAA	2548	broad.mit.edu	37	17	78078846	78078846	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:78078846G>T	ENST00000302262.3	+	2	680	c.461G>T	c.(460-462)cGt>cTt	p.R154L	GAA_ENST00000390015.3_Missense_Mutation_p.R154L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	154					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.R154L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ACCCTGACCCGTACCACCCCC	0.627																																							uc002jxo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CD085127|CM081268	GAA	D|M		c.(460-462)CGT>CTT		acid alpha-glucosidase preproprotein	Acarbose(DB00284)						48.0	34.0	39.0					17																	78078846		2196	4288	6484	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78078846G>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.461G>T	17.37:g.78078846G>T	ENSP00000305692:p.Arg154Leu					GAA_uc002jxp.2_Missense_Mutation_p.R154L|GAA_uc002jxq.2_Missense_Mutation_p.R154L	p.R154L	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		3	643	+	all_neural(118;0.117)		154					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.461G>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027812	0.54790	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.83673	-1.75;-1.75	4.85	4.85	0.62838	Glycoside hydrolase-type carbohydrate-binding (1);	0.438594	0.24078	N	0.041746	T	0.75110	0.3805	L	0.35644	1.08	0.38785	D	0.954845	P	0.36392	0.551	B	0.32022	0.139	T	0.76011	-0.3115	10	0.27785	T	0.31	-17.1425	16.7147	0.85395	0.0:0.0:1.0:0.0	.	154	P10253	LYAG_HUMAN	L	154	ENSP00000305692:R154L;ENSP00000374665:R154L	ENSP00000305692:R154L	R	+	2	0	GAA	75693441	1.000000	0.71417	0.901000	0.35422	0.871000	0.50021	5.412000	0.66392	2.231000	0.72958	0.591000	0.81541	CGT		0.627	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			19	37	1	0	1.37657e-19	0.012319	1.99322e-19	19	37				
CEP131	22994	broad.mit.edu	37	17	79165040	79165040	+	Silent	SNP	G	G	T	rs201949835		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:79165040G>T	ENST00000269392.4	-	22	2974	c.2727C>A	c.(2725-2727)gcC>gcA	p.A909A	AZI1_ENST00000450824.2_Silent_p.A906A|AZI1_ENST00000575907.1_Silent_p.A873A|AZI1_ENST00000374782.3_Silent_p.A870A	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		909					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.A870A(1)|p.A906A(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCGCCATGTCGGCCTCCAGCC	0.652																																							uc002jzp.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(2725-2727)GCC>GCA		5-azacytidine induced 1 isoform a							72.0	69.0	70.0					17																	79165040		2203	4300	6503	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79165040G>T																												ENST00000269392.4:c.2727C>A	17.37:g.79165040G>T						AZI1_uc002jzm.1_Silent_p.A341A|AZI1_uc002jzn.1_Silent_p.A906A|AZI1_uc002jzo.1_Silent_p.A870A|AZI1_uc010wum.1_Silent_p.A873A|AZI1_uc002jzq.2_Silent_p.A57A	p.A909A	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		22	2927	-	all_neural(118;0.0804)|Melanoma(429;0.242)		909					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.2727C>A																																																																																					0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			12	68	1	0	1.52009e-12	0.003163	2.02679e-12	12	68				
SMCHD1	23347	broad.mit.edu	37	18	2656197	2656197	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:2656197G>T	ENST00000320876.6	+	1	461	c.123G>T	c.(121-123)ggG>ggT	p.G41G	SMCHD1_ENST00000261598.8_Silent_p.G41G|CBX3P2_ENST00000579647.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	41					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.G41G(3)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCGAGCTCGGGGACCGGCCTC	0.667																																							uc002klm.3		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(121-123)GGG>GGT		structural maintenance of chromosomes flexible							19.0	26.0	23.0					18																	2656197		1910	4104	6014	SO:0001819	synonymous_variant	23347				chromosome organization		ATP binding	g.chr18:2656197G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.123G>T	18.37:g.2656197G>T							p.G41G	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			1	312	+			41					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.123G>T	CCDS45822.1																																																																																				0.667	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			9	16	1	0	0.000442599	0.006214	0.00048504	9	16				
EPB41L3	23136	broad.mit.edu	37	18	5419763	5419763	+	Missense_Mutation	SNP	G	G	A	rs188980250		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:5419763G>A	ENST00000341928.2	-	12	1793	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	EPB41L3_ENST00000542146.1_De_novo_Start_OutOfFrame|EPB41L3_ENST00000427684.2_De_novo_Start_OutOfFrame|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R503W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	485	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R485W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						cccttcctccgtttgtcctct	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17683	0.0		0.001	False		,,,				2504	0.0						uc002kmt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1453-1455)CGG>TGG		erythrocyte membrane protein band 4.1-like 3							197.0	128.0	152.0					18																	5419763		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5419763G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1453C>T	18.37:g.5419763G>A	ENSP00000343158:p.Arg485Trp					EPB41L3_uc010wzh.1_Missense_Mutation_p.R503W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R503W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R394W|EPB41L3_uc002kms.1_Translation_Start_Site|EPB41L3_uc010wze.1_Translation_Start_Site|EPB41L3_uc010wzf.1_Translation_Start_Site|EPB41L3_uc010wzg.1_Translation_Start_Site|EPB41L3_uc010dkr.2_Missense_Mutation_p.R64W	p.R485W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			12	1539	-			485			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1453C>T	CCDS11838.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.04	2.715601	0.48622	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.83163	-1.5;-1.66;-1.5;-1.69	5.61	-0.681	0.11342	.	1.452490	0.04085	N	0.310269	D	0.89033	0.6600	M	0.68952	2.095	0.19575	N	0.999966	D;D;D;D;D	0.89917	0.999;1.0;0.978;0.995;0.995	D;P;B;P;B	0.64776	0.929;0.852;0.425;0.736;0.394	T	0.75966	-0.3131	10	0.72032	D	0.01	.	10.1374	0.42715	0.078:0.0:0.2069:0.7151	.	503;64;394;503;485	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	W	485;394;503;394;485;503	ENSP00000343158:R485W;ENSP00000441174:R503W;ENSP00000341138:R485W;ENSP00000382981:R503W	ENSP00000343158:R485W	R	-	1	2	EPB41L3	5409763	0.953000	0.32496	0.010000	0.14722	0.329000	0.28539	1.440000	0.35024	0.056000	0.16144	0.655000	0.94253	CGG		0.557	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		4	86	0	0	0	0.000602	0	4	86				
LAMA1	284217	broad.mit.edu	37	18	6986344	6986344	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:6986344G>T	ENST00000389658.3	-	37	5264	c.5171C>A	c.(5170-5172)gCt>gAt	p.A1724D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1724	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.A1724D(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCTTCAGCAGCCCTGATAAA	0.363																																							uc002knm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(5170-5172)GCT>GAT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						55.0	54.0	55.0					18																	6986344		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6986344G>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5171C>A	18.37:g.6986344G>T	ENSP00000374309:p.Ala1724Asp					LAMA1_uc010wzj.1_Missense_Mutation_p.A1200D	p.A1724D	NM_005559	NP_005550	P25391	LAMA1_HUMAN			37	5265	-		Colorectal(10;0.172)	1724			Domain II and I.|Potential.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5171C>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.118630	0.77323	.	.	ENSG00000101680	ENST00000389658	T	0.12039	2.72	5.8	5.8	0.92144	Laminin I (1);	0.142430	0.48767	D	0.000179	T	0.34600	0.0903	M	0.61703	1.905	0.49483	D	0.99979	D	0.71674	0.998	D	0.70016	0.967	T	0.01570	-1.1322	10	0.16420	T	0.52	.	20.0586	0.97663	0.0:0.0:1.0:0.0	.	1724	P25391	LAMA1_HUMAN	D	1724	ENSP00000374309:A1724D	ENSP00000374309:A1724D	A	-	2	0	LAMA1	6976344	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.915000	0.56409	2.741000	0.93983	0.650000	0.86243	GCT		0.363	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		31	89	1	0	6.04164e-23	0.010818	9.03423e-23	31	89				
RBBP8	5932	broad.mit.edu	37	18	20577615	20577615	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:20577615A>G	ENST00000399722.2	+	14	2412	c.2061A>G	c.(2059-2061)acA>acG	p.T687T	RBBP8_ENST00000360790.5_Silent_p.T687T|RBBP8_ENST00000327155.5_Silent_p.T687T|RBBP8_ENST00000399725.2_Silent_p.T687T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	687					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.T687T(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAGGAGAGACAGTGGACATGG	0.299								Homologous recombination																															uc002ktw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(2059-2061)ACA>ACG	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							74.0	71.0	72.0					18																	20577615		2203	4300	6503	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20577615A>G	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2061A>G	18.37:g.20577615A>G						RBBP8_uc002kty.2_Silent_p.T687T|RBBP8_uc002ktz.2_Silent_p.T687T|RBBP8_uc002kua.2_Silent_p.T687T|RBBP8_uc010xap.1_Silent_p.T20T	p.T687T	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		14	2392	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		687					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.2061A>G	CCDS11875.1																																																																																				0.299	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		6	7	0	0	0	0.00308	0	6	7				
CCDC178	374864	broad.mit.edu	37	18	30913319	30913319	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:30913319C>A	ENST00000383096.3	-	10	880	c.698G>T	c.(697-699)tGg>tTg	p.W233L	CCDC178_ENST00000300227.8_Missense_Mutation_p.W233L|CCDC178_ENST00000579947.1_Missense_Mutation_p.W233L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.W233L|CCDC178_ENST00000583930.1_Missense_Mutation_p.W233L|CCDC178_ENST00000402325.1_Missense_Mutation_p.W233L|CCDC178_ENST00000406524.2_Missense_Mutation_p.W233L			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	233								p.W233L(2)									TTCAAGATGCCATTGTAATTC	0.308																																							uc002kxn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(697-699)TGG>TTG		hypothetical protein LOC374864 isoform 1							153.0	135.0	141.0					18																	30913319		2202	4300	6502	SO:0001583	missense	374864							g.chr18:30913319C>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.698G>T	18.37:g.30913319C>A	ENSP00000372576:p.Trp233Leu					C18orf34_uc010xbr.1_Missense_Mutation_p.W233L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.W233L|C18orf34_uc002kxp.2_Missense_Mutation_p.W233L	p.W233L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			9	840	-			233			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.698G>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	6.389	0.439898	0.12104	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.47528	2.24;2.24;2.25;2.25;2.24;0.84	5.17	2.31	0.28768	.	.	.	.	.	T	0.38295	0.1035	L	0.41824	1.3	0.09310	N	1	P;P;P;P	0.42518	0.782;0.592;0.746;0.746	B;B;B;B	0.43701	0.428;0.175;0.175;0.175	T	0.13229	-1.0517	9	0.27785	T	0.31	0.8905	5.8012	0.18414	0.0:0.6634:0.1583:0.1783	.	233;233;233;233	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	L	233	ENSP00000385591:W233L;ENSP00000372576:W233L;ENSP00000300227:W233L;ENSP00000385867:W233L;ENSP00000385234:W233L;ENSP00000382130:W233L	ENSP00000300227:W233L	W	-	2	0	C18orf34	29167317	0.034000	0.19679	0.001000	0.08648	0.007000	0.05969	0.972000	0.29409	0.249000	0.21456	-0.259000	0.10710	TGG		0.308	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		8	53	1	0	0.000442599	0.006214	0.00048504	8	53				
MBD1	4152	broad.mit.edu	37	18	47800612	47800612	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:47800612C>A	ENST00000591416.1	-	11	1521	c.1090G>T	c.(1090-1092)Ggc>Tgc	p.G364C	MBD1_ENST00000424334.2_Missense_Mutation_p.G415C|MBD1_ENST00000436910.1_Missense_Mutation_p.G341C|MBD1_ENST00000382948.5_Missense_Mutation_p.G364C|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000353909.3_Missense_Mutation_p.G315C|MBD1_ENST00000269471.5_Missense_Mutation_p.G341C|MBD1_ENST00000585595.1_Missense_Mutation_p.G389C|MBD1_ENST00000590208.1_Missense_Mutation_p.G364C|MBD1_ENST00000339998.6_Missense_Mutation_p.G364C|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000585672.1_Missense_Mutation_p.G314C|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000591535.1_Missense_Mutation_p.G341C|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000588937.1_Missense_Mutation_p.G341C|MBD1_ENST00000269468.5_Missense_Mutation_p.G364C|MBD1_ENST00000457839.2_Missense_Mutation_p.G389C|MBD1_ENST00000587605.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	364					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G364C(2)|p.G389C(1)|p.G341C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGGTTGCTGCCCCCGAATTTG	0.652																																							uc010dow.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(1090-1092)GGC>TGC		methyl-CpG binding domain protein 1 isoform 1							67.0	65.0	66.0					18																	47800612		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47800612C>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1090G>T	18.37:g.47800612C>A	ENSP00000467017:p.Gly364Cys					MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Missense_Mutation_p.G314C|MBD1_uc010xdi.1_Missense_Mutation_p.G415C|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_Missense_Mutation_p.G364C|MBD1_uc002lei.3_Missense_Mutation_p.G364C|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Missense_Mutation_p.G315C|MBD1_uc002lel.3_Missense_Mutation_p.G341C|MBD1_uc002lem.3_Missense_Mutation_p.G364C|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Missense_Mutation_p.G389C|MBD1_uc010dox.1_Missense_Mutation_p.G341C|MBD1_uc002leo.2_Missense_Mutation_p.G364C	p.G364C	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			11	1527	-			364			CXXC-type 3.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1090G>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590951	0.86851	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000269468;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839	D;D;D;D;D;D;D;D	0.98792	-5.02;-5.07;-5.02;-5.1;-5.09;-5.12;-5.07;-5.14	5.71	5.71	0.89125	Zinc finger, CXXC-type (2);	0.000000	0.64402	D	0.000001	D	0.99290	0.9752	M	0.90705	3.14	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	0.99243	1.0885	10	0.87932	D	0	-20.3129	17.7362	0.88394	0.0:1.0:0.0:0.0	.	415;341;364;364;341;315;364;389	B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9;B4DXJ5	.;.;.;.;.;.;MBD1_HUMAN;.	C	364;315;364;341;341;415;364;364;389	ENSP00000372407:G364C;ENSP00000269469:G315C;ENSP00000269468:G364C;ENSP00000409561:G341C;ENSP00000269471:G341C;ENSP00000408846:G415C;ENSP00000339546:G364C;ENSP00000405268:G389C	ENSP00000269468:G364C	G	-	1	0	MBD1	46054610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.558000	0.73942	2.873000	0.98535	0.561000	0.74099	GGC		0.652	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		46	56	1	0	3.21987e-24	0.01441	4.86018e-24	46	56				
CDH7	1005	broad.mit.edu	37	18	63477091	63477091	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:63477091G>T	ENST00000397968.2	+	3	788	c.362G>T	c.(361-363)cGa>cTa	p.R121L	CDH7_ENST00000323011.3_Missense_Mutation_p.R121L|CDH7_ENST00000536984.2_Missense_Mutation_p.R121L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R121L(2)		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)				TACACGCTCCGAGCTCAAGCG	0.493																																							uc002ljz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(361-363)CGA>CTA		cadherin 7, type 2 preproprotein							71.0	67.0	69.0					18																	63477091		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477091G>T	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.362G>T	18.37:g.63477091G>T	ENSP00000381058:p.Arg121Leu					CDH7_uc002lka.2_Missense_Mutation_p.R121L|CDH7_uc002lkb.2_Missense_Mutation_p.R121L	p.R121L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			3	687	+		Esophageal squamous(42;0.129)	121			Extracellular (Potential).|Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.362G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875073	0.72180	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.51574	0.7;0.7;0.7	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.152719	0.45361	D	0.000373	T	0.62478	0.2431	L	0.60957	1.885	0.58432	D	0.999999	D;D	0.64830	0.994;0.975	P;P	0.56514	0.8;0.513	T	0.60316	-0.7287	10	0.49607	T	0.09	.	20.1416	0.98058	0.0:0.0:1.0:0.0	.	121;121	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	121	ENSP00000319166:R121L;ENSP00000443030:R121L;ENSP00000381058:R121L	ENSP00000319166:R121L	R	+	2	0	CDH7	61628071	0.998000	0.40836	0.290000	0.24890	0.879000	0.50718	4.835000	0.62781	2.767000	0.95098	0.650000	0.86243	CGA		0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		8	65	1	0	0.00307968	0.00308	0.00330704	8	65				
CNDP1	84735	broad.mit.edu	37	18	72228242	72228242	+	Missense_Mutation	SNP	C	C	T	rs533342778		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:72228242C>T	ENST00000358821.3	+	4	683	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CNDP1_ENST00000585136.1_Intron|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.T109M	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	152						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.T152M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TATGTGCTGACGGAGGTAGAC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16038	0.0		0.0	False		,,,				2504	0.001				Melanoma(32;1029 1042 25286 38395 44237)	Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(454-456)ACG>ATG		carnosinase 1 precursor							68.0	66.0	66.0					18																	72228242		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228242C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.455C>T	18.37:g.72228242C>T	ENSP00000351682:p.Thr152Met					uc002llr.2_5'Flank	p.T152M	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	4	666	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	152					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.455C>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	3.448	-0.112660	0.06881	.	.	ENSG00000150656	ENST00000358821	T	0.09538	2.97	4.78	3.68	0.42216	.	0.053368	0.64402	D	0.000001	T	0.25568	0.0622	H	0.96489	3.83	0.41271	D	0.986842	D	0.58620	0.983	B	0.43103	0.408	T	0.46428	-0.9192	10	0.87932	D	0	-15.7706	10.3427	0.43889	0.0:0.8229:0.0:0.1771	.	152	Q96KN2	CNDP1_HUMAN	M	152	ENSP00000351682:T152M	ENSP00000351682:T152M	T	+	2	0	CNDP1	70379222	0.675000	0.27558	0.955000	0.39395	0.026000	0.11368	1.368000	0.34216	2.203000	0.70933	0.655000	0.94253	ACG		0.627	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		37	56	0	0	0	0.003755	0	37	56				
FZR1	51343	broad.mit.edu	37	19	3525945	3525945	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:3525945C>A	ENST00000395095.3	+	2	149	c.149C>A	c.(148-150)cCc>cAc	p.P50H	FZR1_ENST00000441788.2_Missense_Mutation_p.P50H|FZR1_ENST00000313639.8_Missense_Mutation_p.P50H	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	50					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P50H(1)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTTCATCCCCTCCAGAGCC	0.667																																							uc010dtk.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(148-150)CCC>CAC		Fzr1 protein isoform 1							38.0	38.0	38.0					19																	3525945		2201	4297	6498	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3525945C>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.149C>A	19.37:g.3525945C>A	ENSP00000378529:p.Pro50His					FZR1_uc002lxt.2_Missense_Mutation_p.P50H|FZR1_uc002lxv.2_Missense_Mutation_p.P50H	p.P50H	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	183	+			50					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.149C>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821898	0.71028	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.08008	3.14;3.14;3.14	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	M	0.91038	3.17	0.37004	D	0.895402	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.58346	-0.7652	10	0.87932	D	0	-52.1006	16.142	0.81534	0.0:1.0:0.0:0.0	.	50;50;50	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	H	50	ENSP00000410369:P50H;ENSP00000378529:P50H;ENSP00000321800:P50H	ENSP00000321800:P50H	P	+	2	0	FZR1	3476945	1.000000	0.71417	0.996000	0.52242	0.430000	0.31655	5.841000	0.69409	2.130000	0.65690	0.561000	0.74099	CCC		0.667	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		6	35	1	0	2.0095e-06	0.001984	2.32144e-06	6	35				
PTPRS	5802	broad.mit.edu	37	19	5210581	5210581	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:5210581C>A	ENST00000587303.1	-	34	5485	c.5386G>T	c.(5386-5388)Gcc>Tcc	p.A1796S	PTPRS_ENST00000353284.2_Missense_Mutation_p.A1349S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1796S|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1776S|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1758S|PTPRS_ENST00000592099.1_Missense_Mutation_p.A1349S|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1797S|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1758S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1796	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1796S(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GAGCGCTCGGCCGGCCAGTAC	0.607																																							uc002mbv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(5386-5388)GCC>TCC		protein tyrosine phosphatase, receptor type,							80.0	73.0	75.0					19																	5210581		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5210581C>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5386G>T	19.37:g.5210581C>A	ENSP00000467537:p.Ala1796Ser					PTPRS_uc002mbu.1_Missense_Mutation_p.A1365S|PTPRS_uc010xin.1_Missense_Mutation_p.A1338S|PTPRS_uc002mbw.2_Missense_Mutation_p.A1758S|PTPRS_uc002mbx.2_Missense_Mutation_p.A1353S|PTPRS_uc002mby.2_Missense_Mutation_p.A1349S	p.A1796S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	35	5620	-			1796			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5386G>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	c	15.13	2.742192	0.49151	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	2.32	2.32	0.28847	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.291782	0.26738	U	0.022743	T	0.72558	0.3475	N	0.00885	-1.115	0.58432	D	0.999997	B;B;B;B;D;D	0.58620	0.372;0.022;0.178;0.013;0.983;0.981	B;B;P;B;D;D	0.75020	0.43;0.045;0.597;0.081;0.985;0.985	T	0.77027	-0.2740	10	0.37606	T	0.19	.	11.9652	0.53031	0.0:1.0:0.0:0.0	.	1378;1349;1353;1758;1796;1391	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	1391;1797;1796;1796;1787;1776;1758;1378;1353;1349	ENSP00000361489:A1797S;ENSP00000349932:A1796S;ENSP00000262963:A1776S;ENSP00000269907:A1758S;ENSP00000327313:A1349S	ENSP00000262963:A1776S	A	-	1	0	PTPRS	5161581	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	5.812000	0.69194	1.297000	0.44761	0.486000	0.48141	GCC		0.607	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			12	46	1	0	1.15088e-07	0.004007	1.37418e-07	12	46				
TUBB4A	10382	broad.mit.edu	37	19	6496231	6496231	+	Splice_Site	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:6496231G>A	ENST00000264071.2	-	4	650	c.279C>T	c.(277-279)ggC>ggT	p.G93G	TUBB4A_ENST00000598006.1_Splice_Site_p.A79V|TUBB4A_ENST00000596926.1_3'UTR|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Splice_Site_p.G93G|TUBB4A_ENST00000601152.1_Splice_Site_p.A68V|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	93					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G93G(1)									CTCCGGATTGGCCTAGAGAGG	0.612																																							uc002mfg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(277-279)GGC>GGT		tubulin, beta 4							45.0	41.0	43.0					19																	6496231		2203	4300	6503	SO:0001630	splice_region_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496231G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.278-1C>T	19.37:g.6496231G>A						TUBB4_uc002mff.1_Silent_p.G21G	p.G93G	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	386	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	93					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.279C>T	CCDS12168.1																																																																																				0.612	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087	Silent	32	31	0	0	0	0.013726	0	32	31				
MUC16	94025	broad.mit.edu	37	19	9066581	9066581	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:9066581C>G	ENST00000397910.4	-	3	21068	c.20865G>C	c.(20863-20865)gaG>gaC	p.E6955D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6957	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.E6955D(2)|p.E2588D(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						AAATGCTGGTCTCTCTCAGTC	0.448																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20863-20865)GAG>GAC		mucin 16							151.0	147.0	148.0					19																	9066581		1938	4148	6086	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066581C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20865G>C	19.37:g.9066581C>G	ENSP00000381008:p.Glu6955Asp						p.E6955D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21069	-			6957			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20865G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.029	0.373805	0.11409	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	2.77	-5.54	0.02544	.	.	.	.	.	T	0.02119	0.0066	L	0.29908	0.895	.	.	.	B	0.09022	0.002	B	0.15484	0.013	T	0.46512	-0.9186	8	0.87932	D	0	.	4.3269	0.11045	0.0:0.2342:0.3344:0.4314	.	6955	B5ME49	.	D	6955	ENSP00000381008:E6955D	ENSP00000381008:E6955D	E	-	3	2	MUC16	8927581	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.682000	0.05185	-1.108000	0.03000	0.407000	0.27541	GAG		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	234	0	0	0	0.007413	0	20	234				
FDX1L	112812	broad.mit.edu	37	19	10421173	10421173	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:10421173T>C	ENST00000393708.3	-	5	559	c.541A>G	c.(541-543)Aag>Gag	p.K181E	CTD-2369P2.10_ENST00000452032.2_3'UTR|ZGLP1_ENST00000403903.3_5'Flank|FDX1L_ENST00000492239.1_5'UTR|ZGLP1_ENST00000403352.1_5'Flank|FDX1L_ENST00000494368.1_Missense_Mutation_p.K46E|FDX1L_ENST00000541276.1_3'UTR	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	181					oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)	p.K181E(1)		NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CAGTGGGGCTTGGGGACATGG	0.612																																							uc002mny.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(541-543)AAG>GAG		ferredoxin 1-like precursor							105.0	86.0	93.0					19																	10421173		2203	4300	6503	SO:0001583	missense	112812				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding	g.chr19:10421173T>C	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.541A>G	19.37:g.10421173T>C	ENSP00000377311:p.Lys181Glu					ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA	p.K181E	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)		5	560	-			181					Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.541A>G	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.984973	0.53934	.	.	ENSG00000167807	ENST00000393708	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	L	0.41632	1.29	0.58432	D	0.999992	B	0.31968	0.349	B	0.33799	0.17	T	0.48163	-0.9059	9	0.40728	T	0.16	-7.8462	11.3635	0.49657	0.0:0.0:0.0:1.0	.	181	Q6P4F2	ADXL_HUMAN	E	181	.	ENSP00000377311:K181E	K	-	1	0	FDX1L	10282173	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.000000	0.76290	1.560000	0.49568	0.454000	0.30748	AAG		0.612	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			5	62	0	0	0	0.001168	0	5	62				
FDX1L	112812	broad.mit.edu	37	19	10421195	10421195	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:10421195G>C	ENST00000393708.3	-	5	537	c.519C>G	c.(517-519)ttC>ttG	p.F173L	CTD-2369P2.10_ENST00000452032.2_3'UTR|ZGLP1_ENST00000403903.3_5'Flank|FDX1L_ENST00000492239.1_5'UTR|ZGLP1_ENST00000403352.1_5'Flank|FDX1L_ENST00000494368.1_Missense_Mutation_p.F38L|FDX1L_ENST00000541276.1_3'UTR	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	173					oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)	p.F173L(1)		NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CATCCACGTAGAAGTTCCTGG	0.607																																							uc002mny.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(517-519)TTC>TTG		ferredoxin 1-like precursor							124.0	101.0	109.0					19																	10421195		2203	4300	6503	SO:0001583	missense	112812				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding	g.chr19:10421195G>C	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.519C>G	19.37:g.10421195G>C	ENSP00000377311:p.Phe173Leu					ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA	p.F173L	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)		5	538	-			173					Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.519C>G	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113361	0.77210	.	.	ENSG00000167807	ENST00000393708	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	M	0.68728	2.09	0.58432	D	0.999991	D	0.71674	0.998	D	0.66847	0.947	T	0.65606	-0.6127	9	0.30078	T	0.28	-23.0635	8.136	0.31054	0.112:0.0:0.888:0.0	.	173	Q6P4F2	ADXL_HUMAN	L	173	.	ENSP00000377311:F173L	F	-	3	2	FDX1L	10282195	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.678000	0.46900	1.914000	0.55421	0.555000	0.69702	TTC		0.607	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			6	60	0	0	0	0.001984	0	6	60				
ATG4D	84971	broad.mit.edu	37	19	10665777	10665777	+	IGR	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:10665777T>G	ENST00000309469.4	+	0	1949				KRI1_ENST00000312962.6_Silent_p.S595S|KRI1_ENST00000361821.5_Silent_p.S591S|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.S595S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ctCGGCAGAGTGACTTGAAGA	0.602																																							uc002moy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1783-1785)TCA>TCC		KRI1 homolog							65.0	63.0	64.0					19																	10665777		2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10665777T>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10665777T>G						KRI1_uc002mow.1_Silent_p.S214S|KRI1_uc002mox.1_Silent_p.S591S	p.S595S	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		18	1794	-			595					Q969K0	Silent	SNP	ENST00000309469.4	37	c.1785A>C	CCDS12241.1																																																																																				0.602	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		4	67	0	0	0	0.009096	0	4	67				
CASP14	23581	broad.mit.edu	37	19	15164396	15164396	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:15164396G>A	ENST00000427043.3	+	3	439	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	CASP14_ENST00000221740.1_Missense_Mutation_p.R44Q|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	44					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R44Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CACATGTTTCGGCAGCTGAGA	0.527																																							uc010dzv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(130-132)CGG>CAG		caspase 14 precursor							96.0	92.0	94.0					19																	15164396		2203	4300	6503	SO:0001583	missense	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164396G>A		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.131G>A	19.37:g.15164396G>A	ENSP00000393417:p.Arg44Gln					CASP14_uc002naf.2_Missense_Mutation_p.R44Q	p.R44Q	NM_012114	NP_036246	P31944	CASPE_HUMAN			3	439	+			44					O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	c.131G>A	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.959109	0.00465	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.20200	2.09;2.09	4.91	0.166	0.14999	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.740041	0.12562	N	0.458063	T	0.07324	0.0185	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42292	-0.9460	10	0.10636	T	0.68	.	8.9081	0.35537	0.7491:0.0:0.2509:0.0	.	44	P31944	CASPE_HUMAN	Q	44	ENSP00000393417:R44Q;ENSP00000221740:R44Q	ENSP00000221740:R44Q	R	+	2	0	CASP14	15025396	0.000000	0.05858	0.029000	0.17559	0.108000	0.19459	-0.206000	0.09398	-0.366000	0.08064	-1.847000	0.00572	CGG		0.527	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		25	103	0	0	0	0.008361	0	25	103				
ZNF737	100129842	broad.mit.edu	37	19	20728561	20728561	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:20728561A>C	ENST00000427401.4	-	4	542	c.448T>G	c.(448-450)Tat>Gat	p.Y150D		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	150					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.Y149D(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ACTTTCACATATTTATCACAC	0.299																																							uc002npa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)TAT>GAT		zinc finger protein 737							48.0	36.0	40.0					19																	20728561		692	1590	2282	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728561A>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.448T>G	19.37:g.20728561A>C	ENSP00000395733:p.Tyr150Asp						p.Y150D	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	628	-			150					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.448T>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	9.540	1.113208	0.20795	.	.	ENSG00000237440	ENST00000427401	T	0.30448	1.53	0.965	0.965	0.19661	.	.	.	.	.	T	0.44850	0.1313	M	0.91196	3.185	0.09310	N	1	B	0.31837	0.342	B	0.40677	0.337	T	0.46638	-0.9177	9	0.49607	T	0.09	.	5.7596	0.18192	1.0:0.0:0.0:0.0	.	150	C9JHM3	.	D	150	ENSP00000395733:Y150D	ENSP00000395733:Y150D	Y	-	1	0	ZNF737	20520401	0.053000	0.20554	0.041000	0.18516	0.039000	0.13416	1.734000	0.38166	0.352000	0.24053	0.341000	0.21757	TAT		0.299	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		6	26	0	0	0	0.001984	0	6	26				
ZNF98	148198	broad.mit.edu	37	19	22605017	22605017	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:22605017G>T	ENST00000357774.5	-	1	131	c.10C>A	c.(10-12)Ccc>Acc	p.P4T	ZNF98_ENST00000601553.1_Missense_Mutation_p.P4T|AC011516.1_ENST00000599129.1_lincRNA	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	4					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.P4T(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTTCCAAGGGGTCCTGGCATC	0.597																																							uc002nqt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(10-12)CCC>ACC		zinc finger protein 98							106.0	105.0	105.0					19																	22605017		2203	4300	6503	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22605017G>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.10C>A	19.37:g.22605017G>T	ENSP00000350418:p.Pro4Thr						p.P4T	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			1	132	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	4						Missense_Mutation	SNP	ENST00000357774.5	37	c.10C>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	3.269	-0.149440	0.06585	.	.	ENSG00000197360	ENST00000357774	T	0.06294	3.32	0.185	0.185	0.15096	.	.	.	.	.	T	0.03739	0.0106	N	0.16790	0.44	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44251	-0.9340	8	0.30078	T	0.28	.	.	.	.	.	4	A6NK75	ZNF98_HUMAN	T	4	ENSP00000350418:P4T	ENSP00000350418:P4T	P	-	1	0	ZNF98	22396857	0.007000	0.16637	0.161000	0.22692	0.167000	0.22549	0.349000	0.20055	0.293000	0.22520	0.298000	0.19748	CCC		0.597	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		20	118	1	0	6.44725e-10	0.014323	8.15463e-10	20	118				
PLEKHG2	64857	broad.mit.edu	37	19	39907024	39907024	+	Silent	SNP	C	C	T	rs372499583		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:39907024C>T	ENST00000409794.3	+	5	1366	c.516C>T	c.(514-516)gcC>gcT	p.A172A	PLEKHG2_ENST00000425673.1_Silent_p.A172A|PLEKHG2_ENST00000458508.2_Silent_p.A113A|PLEKHG2_ENST00000409797.2_Silent_p.A172A|PLEKHG2_ENST00000378550.1_Silent_p.A172A	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	172	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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.A172A(1)|p.A130A(1)|p.A113A(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)			GCAGCAGCGCCGGGGGTATTG	0.667																																							uc010xuz.1		NA																	3	Substitution - coding silent(3)		lung(3)	skin(2)|pancreas(1)|breast(1)	4						c.(514-516)GCC>GCT		common-site lymphoma/leukemia guanine nucleotide		C		1,4405	4.2+/-10.8	0,1,2202	69.0	78.0	74.0		516	-9.4	0.2	19		74	0,8600		0,0,4300	no	coding-synonymous	PLEKHG2	NM_022835.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		172/1387	39907024	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:39907024C>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.516C>T	19.37:g.39907024C>T						PLEKHG2_uc010xuy.1_Silent_p.A113A|PLEKHG2_uc002olj.2_Silent_p.A172A|PLEKHG2_uc010xva.1_5'UTR	p.A172A	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)		5	841	+	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)		172			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.516C>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	9.514	1.106620	0.20714	2.27E-4	0.0	ENSG00000090924	ENST00000205135	.	.	.	4.68	-9.37	0.00626	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43523	-0.9386	4	.	.	.	.	2.9409	0.05830	0.226:0.4505:0.1874:0.136	.	.	.	.	L	69	.	.	P	+	2	0	PLEKHG2	44598864	0.001000	0.12720	0.156000	0.22583	0.800000	0.45204	-2.458000	0.01000	-3.045000	0.00262	0.491000	0.48974	CCG		0.667	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		13	152	0	0	0	0.00245	0	13	152				
PSG8	440533	broad.mit.edu	37	19	43262242	43262242	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:43262242G>T	ENST00000306511.4	-	3	718	c.621C>A	c.(619-621)gtC>gtA	p.V207V	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Silent_p.V85V|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000404209.4_Silent_p.V207V	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	207	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.V207V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTACTTTGTGACACCCAATA	0.512																																							uc002ouo.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(619-621)GTC>GTA		pregnancy specific beta-1-glycoprotein 8 isoform							253.0	262.0	259.0					19																	43262242		2203	4299	6502	SO:0001819	synonymous_variant	440533					extracellular region		g.chr19:43262242G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.621C>A	19.37:g.43262242G>T						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Silent_p.V46V|PSG8_uc002ouh.2_Silent_p.V207V|PSG8_uc010ein.2_Silent_p.V85V|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Silent_p.V46V|PSG8_uc002oul.3_Silent_p.V207V|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	p.V207V	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			3	719	-		Prostate(69;0.00899)	207			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	c.621C>A	CCDS33037.1																																																																																				0.512	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			157	187	1	0	1.34836e-70	0.01441	2.31975e-70	157	187				
ZNF112	7771	broad.mit.edu	37	19	44832283	44832283	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:44832283G>A	ENST00000337401.4	-	5	2133	c.2045C>T	c.(2044-2046)gCc>gTc	p.A682V	ZNF112_ENST00000536500.1_Missense_Mutation_p.A699V|ZNF112_ENST00000354340.4_Missense_Mutation_p.A676V	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	682					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.A676V(1)|p.A682V(1)									CCTCTGATGGGCCAAAAGTGT	0.438																																						Melanoma(53;975 1202 7512 15993 27273)	uc010ejj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(2044-2046)GCC>GTC		zinc finger protein 228 isoform 1							79.0	72.0	75.0					19																	44832283		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44832283G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2045C>T	19.37:g.44832283G>A	ENSP00000337081:p.Ala682Val					ZFP112_uc002ozc.3_Missense_Mutation_p.A676V|ZFP112_uc010xwy.1_Missense_Mutation_p.A699V|ZFP112_uc010xwz.1_Missense_Mutation_p.A681V	p.A682V	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	2158	-			682			C2H2-type 10.		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.2045C>T	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	8.073	0.770727	0.15983	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.18174	2.23;2.23;2.23	5.0	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33916	N	0.004437	T	0.03827	0.0108	N	0.03608	-0.345	0.23720	N	0.997029	P;P;P	0.48016	0.904;0.883;0.904	B;B;B	0.33454	0.164;0.102;0.164	T	0.33007	-0.9885	10	0.12430	T	0.62	-7.0956	3.281	0.06915	0.0946:0.2827:0.4645:0.1582	.	681;699;682	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	V	682;682;676;699;681	ENSP00000337081:A682V;ENSP00000346305:A676V;ENSP00000441990:A699V	ENSP00000253426:A681V	A	-	2	0	ZNF285	49524123	0.000000	0.05858	1.000000	0.80357	0.892000	0.51952	-3.473000	0.00459	2.484000	0.83849	0.655000	0.94253	GCC		0.438	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		4	80	0	0	0	0.009096	0	4	80				
ZNF615	284370	broad.mit.edu	37	19	52497466	52497466	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:52497466T>C	ENST00000602063.1	-	6	1212	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	ZNF615_ENST00000391795.3_Missense_Mutation_p.Y293C|ZNF615_ENST00000598071.1_Missense_Mutation_p.Y299C|ZNF615_ENST00000594083.1_Missense_Mutation_p.Y299C|ZNF615_ENST00000376716.5_Missense_Mutation_p.Y288C			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	288					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.Y288C(1)|p.Y299C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCTACATGTGTAAGGTTTCCC	0.408																																							uc002pye.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(862-864)TAC>TGC		zinc finger protein 615							178.0	162.0	167.0					19																	52497466		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497466T>C	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.863A>G	19.37:g.52497466T>C	ENSP00000473089:p.Tyr288Cys					ZNF615_uc002pyf.1_Missense_Mutation_p.Y299C|ZNF615_uc002pyg.1_Missense_Mutation_p.Y180C|ZNF615_uc002pyh.1_Missense_Mutation_p.Y299C|ZNF615_uc010epi.1_Missense_Mutation_p.Y295C|ZNF615_uc010ydg.1_Missense_Mutation_p.Y293C	p.Y288C	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1155	-		all_neural(266;0.117)	288			C2H2-type 4.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.863A>G	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.831598	0.32329	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.25414	1.8;1.8	3.09	3.09	0.35607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52661	0.1748	M	0.90483	3.12	0.09310	N	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.986;0.986;0.992	T	0.40136	-0.9579	9	0.72032	D	0.01	.	5.9089	0.19016	0.3806:0.0:0.0:0.6194	.	293;295;299;288	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	C	288;298;293;298	ENSP00000365906:Y288C;ENSP00000375672:Y293C	ENSP00000347019:Y298C	Y	-	2	0	ZNF615	57189278	0.000000	0.05858	0.020000	0.16555	0.861000	0.49209	-0.483000	0.06536	1.402000	0.46780	0.454000	0.30748	TAC		0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		7	166	0	0	0	0.00308	0	7	166				
LILRB2	10288	broad.mit.edu	37	19	54782221	54782221	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:54782221C>T	ENST00000391749.4	-	7	1422	c.1151G>A	c.(1150-1152)aGt>aAt	p.S384N	LILRB2_ENST00000314446.5_Missense_Mutation_p.S384N|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.S384N|LILRB2_ENST00000434421.1_Missense_Mutation_p.S268N|LILRB2_ENST00000391748.1_Missense_Mutation_p.S384N	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	384	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.S384N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACAGGACTCATGGGGAA	0.577																																							uc002qfb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1150-1152)AGT>AAT		leukocyte immunoglobulin-like receptor,							147.0	145.0	146.0					19																	54782221		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782221C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1151G>A	19.37:g.54782221C>T	ENSP00000375629:p.Ser384Asn					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.S384N|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.S384N|LILRB2_uc010yet.1_Missense_Mutation_p.S268N|LILRB2_uc010yeu.1_RNA	p.S384N	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1417	-	Ovarian(34;0.19)		384			Extracellular (Potential).|Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1151G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903300	0.33628	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	1.88	1.88	0.25563	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.539810	0.04082	N	0.309784	T	0.10766	0.0263	M	0.63208	1.945	0.09310	N	1	B;B;B	0.26935	0.164;0.058;0.011	B;B;B	0.37989	0.262;0.259;0.034	T	0.41770	-0.9490	10	0.52906	T	0.07	.	7.4257	0.27098	0.0:1.0:0.0:0.0	.	384;401;384	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	N	384;384;384;384;268	ENSP00000375628:S384N;ENSP00000319960:S384N;ENSP00000375629:S384N;ENSP00000375626:S384N;ENSP00000410117:S268N	ENSP00000319960:S384N	S	-	2	0	LILRB2	59474033	0.000000	0.05858	0.030000	0.17652	0.296000	0.27459	0.063000	0.14410	1.405000	0.46838	0.442000	0.29010	AGT		0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			35	149	0	0	0	0.004289	0	35	149				
BRSK1	84446	broad.mit.edu	37	19	55814218	55814218	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:55814218C>A	ENST00000309383.1	+	10	1288	c.1011C>A	c.(1009-1011)cgC>cgA	p.R337R	BRSK1_ENST00000326848.7_Silent_p.R32R|BRSK1_ENST00000590333.1_Silent_p.R353R|BRSK1_ENST00000585418.1_Silent_p.R337R	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	337	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R337R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCTGCATCGCGAGCTGCGCA	0.657																																							uc002qkg.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1009-1011)CGC>CGA		BR serine/threonine kinase 1							56.0	45.0	49.0					19																	55814218		2203	4300	6503	SO:0001819	synonymous_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814218C>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1011C>A	19.37:g.55814218C>A						BRSK1_uc002qkf.2_Silent_p.R353R|BRSK1_uc002qkh.2_Silent_p.R32R	p.R337R	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1288	+		Renal(1328;0.245)	337			UBA.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	c.1011C>A	CCDS12921.1																																																																																				0.657	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		31	41	1	0	1.06801e-11	0.009535	1.41811e-11	31	41				
NLRP5	126206	broad.mit.edu	37	19	56539603	56539603	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:56539603G>T	ENST00000390649.3	+	7	2004	c.2004G>T	c.(2002-2004)tgG>tgT	p.W668C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	668					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.W668C(1)		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)		TTCTGCACTGGGTCTCTCTGT	0.572																																							uc002qmj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2002-2004)TGG>TGT		NACHT, LRR and PYD containing protein 5							72.0	75.0	74.0					19																	56539603		1963	4149	6112	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539603G>T	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.2004G>T	19.37:g.56539603G>T	ENSP00000375063:p.Trp668Cys					NLRP5_uc002qmi.2_Missense_Mutation_p.W649C	p.W668C	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2004	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	668					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2004G>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256593	0.22965	.	.	ENSG00000171487	ENST00000390649	D	0.86865	-2.18	3.26	0.866	0.19079	.	0.239529	0.22093	N	0.064723	D	0.82609	0.5074	L	0.35593	1.075	0.21386	N	0.999703	P	0.38078	0.617	P	0.49387	0.609	T	0.70702	-0.4799	10	0.12430	T	0.62	.	8.8482	0.35184	0.0:0.4578:0.5422:0.0	.	668	P59047	NALP5_HUMAN	C	668	ENSP00000375063:W668C	ENSP00000375063:W668C	W	+	3	0	NLRP5	61231415	0.993000	0.37304	0.057000	0.19452	0.084000	0.17831	3.283000	0.51701	0.307000	0.22880	0.561000	0.74099	TGG		0.572	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		35	48	1	0	9.8876e-21	0.004878	1.4382e-20	35	48				
ZNF419	79744	broad.mit.edu	37	19	58005275	58005275	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:58005275T>G	ENST00000221735.7	+	5	1536	c.1350T>G	c.(1348-1350)atT>atG	p.I450M	ZNF419_ENST00000347466.6_Missense_Mutation_p.I418M|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.I404M|ZNF419_ENST00000442920.2_Missense_Mutation_p.I437M|ZNF419_ENST00000424930.2_Missense_Mutation_p.I451M|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.I438M			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	450					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.I425M(1)|p.I418M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAGTTCACATTGGAGAAAAGC	0.428																																							uc002qov.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1348-1350)ATT>ATG		zinc finger protein 419 isoform 2							114.0	120.0	118.0					19																	58005275		2203	4300	6503	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58005275T>G	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1350T>G	19.37:g.58005275T>G	ENSP00000221735:p.Ile450Met					ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.I451M|ZNF419_uc010etz.1_Missense_Mutation_p.I438M|ZNF419_uc010eua.1_Missense_Mutation_p.I437M|ZNF419_uc002qow.2_Missense_Mutation_p.I418M|ZNF419_uc010eub.1_Missense_Mutation_p.I405M|ZNF419_uc010euc.1_Missense_Mutation_p.I404M	p.I450M	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1590	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	450					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.1350T>G	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761197	0.49468	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000442920;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	2.11	0.936	0.19488	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11239	0.0274	L	0.27053	0.805	0.39306	D	0.964997	P;P;P;P;P;P;P	0.42123	0.6;0.6;0.693;0.467;0.771;0.763;0.771	B;B;B;B;B;B;B	0.42593	0.217;0.217;0.382;0.295;0.392;0.264;0.392	T	0.19976	-1.0289	9	0.87932	D	0	.	3.0069	0.06032	0.4254:0.0:0.2154:0.3592	.	404;404;437;438;451;418;450	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	M	425;451;438;437;418;404;450	ENSP00000388864:I451M;ENSP00000390916:I438M;ENSP00000414709:I437M;ENSP00000299860:I418M;ENSP00000392129:I404M;ENSP00000221735:I450M	ENSP00000221735:I450M	I	+	3	3	ZNF419	62697087	0.001000	0.12720	0.107000	0.21349	0.769000	0.43574	-0.393000	0.07305	0.025000	0.15241	0.172000	0.16884	ATT		0.428	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		3	175	0	0	0	0.009096	0	3	175				
TRIM28	10155	broad.mit.edu	37	19	59060467	59060467	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:59060467G>C	ENST00000253024.5	+	12	1811	c.1522G>C	c.(1522-1524)Gtc>Ctc	p.V508L	TRIM28_ENST00000341753.6_Missense_Mutation_p.V426L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	508	HP1 box.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V508L(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CGTCTTCAAGGTCTTCCCAGG	0.612																																							uc002qtg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1522-1524)GTC>CTC		tripartite motif-containing 28 protein							66.0	67.0	67.0					19																	59060467		2202	4299	6501	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060467G>C		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1522G>C	19.37:g.59060467G>C	ENSP00000253024:p.Val508Leu					TRIM28_uc010eut.1_Missense_Mutation_p.V426L|TRIM28_uc002qth.1_Missense_Mutation_p.V123L	p.V508L	NM_005762	NP_005753	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	12	1811	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	508			HP1 box.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.1522G>C	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864953	0.51482	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.73575	-0.49;-0.76	4.95	4.95	0.65309	.	0.000000	0.53938	D	0.000047	T	0.72835	0.3510	N	0.19112	0.55	0.38873	D	0.956744	D;P;D	0.61697	0.99;0.953;0.984	D;P;D	0.70935	0.971;0.739;0.935	T	0.66999	-0.5781	10	0.02654	T	1	-35.0716	16.0568	0.80812	0.0:0.0:1.0:0.0	.	426;508;508	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	L	508;426	ENSP00000253024:V508L;ENSP00000342232:V426L	ENSP00000253024:V508L	V	+	1	0	TRIM28	63752279	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.138000	0.50570	2.471000	0.83476	0.549000	0.68633	GTC		0.612	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		31	35	0	0	0	0.008361	0	31	35				
KCNS3	3790	broad.mit.edu	37	2	18113214	18113214	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:18113214A>G	ENST00000403915.1	+	3	1390	c.939A>G	c.(937-939)ctA>ctG	p.L313L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.L313L	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	313					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.L313L(1)		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)					TTCGGTCTCTAGGTGCCACAC	0.498																																							uc002rcv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(937-939)CTA>CTG		potassium voltage-gated channel							119.0	122.0	121.0					2																	18113214		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:18113214A>G	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.939A>G	2.37:g.18113214A>G						KCNS3_uc002rcw.2_Silent_p.L313L	p.L313L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	1390	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		313			Cytoplasmic (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	ENST00000403915.1	37	c.939A>G	CCDS1692.1																																																																																				0.498	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		17	242	0	0	0	0.004007	0	17	242				
ATAD2B	54454	broad.mit.edu	37	2	23980357	23980357	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:23980357A>T	ENST00000238789.5	-	25	4352	c.4009T>A	c.(4009-4011)Tgt>Agt	p.C1337S	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1337						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.C1337S(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTATTGCTACATTCCAGTGCC	0.378																																							uc002rek.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(4009-4011)TGT>AGT		ATPase family, AAA domain containing 2B							169.0	160.0	163.0					2																	23980357		1835	4094	5929	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23980357A>T	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4009T>A	2.37:g.23980357A>T	ENSP00000238789:p.Cys1337Ser					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.C577S|ATAD2B_uc002rej.3_Missense_Mutation_p.C505S	p.C1337S	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			25	4303	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1337					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.4009T>A	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.22|12.22	1.874114|1.874114	0.33069|0.33069	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.91577|.	-2.87|.	5.27|5.27	4.04|4.04	0.47022|0.47022	.|.	3.673860|.	0.00883|.	N|.	0.002156|.	T|T	0.43722|0.43722	0.1260|0.1260	N|N	0.24115|0.24115	0.695|0.695	0.37337|0.37337	D|D	0.910241|0.910241	B;B|.	0.09022|.	0.0;0.002|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.44128|0.44128	-0.9348|-0.9348	10|5	0.07482|.	T|.	0.82|.	.|.	10.8152|10.8152	0.46571|0.46571	0.8597:0.0:0.0:0.1403|0.8597:0.0:0.0:0.1403	.|.	1337;1332|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	S|K	1337;505|612	ENSP00000238789:C1337S|.	ENSP00000238789:C1337S|.	C|N	-|-	1|3	0|2	ATAD2B|ATAD2B	23833861|23833861	0.972000|0.972000	0.33761|0.33761	0.998000|0.998000	0.56505|0.56505	0.971000|0.971000	0.66376|0.66376	2.781000|2.781000	0.47750|0.47750	2.120000|2.120000	0.65058|0.65058	0.460000|0.460000	0.39030|0.39030	TGT|AAT		0.378	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		48	140	0	0	0	0.01441	0	48	140				
DYNC2LI1	51626	broad.mit.edu	37	2	44023920	44023921	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:44023920_44023921GG>CT	ENST00000260605.8	+	8	740_741	c.640_641GG>CT	c.(640-642)GGa>CTa	p.G214L	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.G215L|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.G88L|DYNC2LI1_ENST00000489222.2_3'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	214					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.G214L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACATTATTATGGAGCATCATTA	0.356																																							uc002rtk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)GGA>CTA		dynein 2 light intermediate chain isoform 1																																				SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44023920_44023921GG>CT		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	Exception_encountered	2.37:g.44023920_44023921delinsCT	ENSP00000260605:p.Gly214Leu					DYNC2LI1_uc002rtj.2_Missense_Mutation_p.G214L|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.G215L|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.G88L	p.G214L	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			8	736_737	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	214					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	DNP	ENST00000260605.8	37	c.640_641GG>CT	CCDS1813.1																																																																																				0.356	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		16	44	0	0	0	0.004672	0	16	44				
CAMKMT	79823	broad.mit.edu	37	2	44970769	44970769	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:44970769G>A	ENST00000378494.3	+	8	676	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	211						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)	p.R211Q(1)		breast(2)|large_intestine(3)|lung(5)	10						AGCGTTTTACGATGGGATAAT	0.308																																							uc002rum.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(631-633)CGA>CAA		hypothetical protein LOC79823							59.0	62.0	61.0					2																	44970769		2203	4300	6503	SO:0001583	missense	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44970769G>A		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.632G>A	2.37:g.44970769G>A	ENSP00000367755:p.Arg211Gln						p.R211Q	NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN			8	736	+		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)	211					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	c.632G>A	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055962	0.76074	.	.	ENSG00000143919	ENST00000378494	T	0.10192	2.9	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.39397	1.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02093	-1.1215	10	0.15499	T	0.54	-4.5096	19.7554	0.96287	0.0:0.0:1.0:0.0	.	211	Q7Z624	CMKMT_HUMAN	Q	211	ENSP00000367755:R211Q	ENSP00000367755:R211Q	R	+	2	0	CAMKMT	44824273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.906000	0.92626	2.665000	0.90641	0.563000	0.77884	CGA		0.308	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		4	48	0	0	0	0.009096	0	4	48				
PSME4	23198	broad.mit.edu	37	2	54120044	54120044	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:54120044T>A	ENST00000404125.1	-	36	4147	c.4092A>T	c.(4090-4092)ttA>ttT	p.L1364F	PSME4_ENST00000421748.2_Missense_Mutation_p.L508F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.L1250F(1)|p.L1364F(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCAAATGTTCTAAATGGGGCT	0.393																																							uc002rxp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(4090-4092)TTA>TTT		proteasome (prosome, macropain) activator							93.0	91.0	92.0					2																	54120044		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54120044T>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4092A>T	2.37:g.54120044T>A	ENSP00000384211:p.Leu1364Phe					PSME4_uc010yop.1_Missense_Mutation_p.L1250F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.L739F|PSME4_uc010fbv.1_Missense_Mutation_p.L508F	p.L1364F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		36	4148	-			1364			HEAT 4.		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.4092A>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565637	0.65651	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.76578	-1.03;-1.03	5.51	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.203935	0.43747	D	0.000538	D	0.82995	0.5158	M	0.67397	2.05	0.58432	D	0.999993	D;D;D	0.69078	0.997;0.992;0.995	D;P;P	0.67382	0.951;0.803;0.894	T	0.81311	-0.0990	10	0.48119	T	0.1	.	6.0878	0.19976	0.0:0.3068:0.0:0.6932	.	739;508;1364	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	F	508;1364	ENSP00000410830:L508F;ENSP00000384211:L1364F	ENSP00000384211:L1364F	L	-	3	2	PSME4	53973548	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.056000	0.30480	0.942000	0.37525	0.454000	0.30748	TTA		0.393	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		28	65	0	0	0	0.012213	0	28	65				
CCDC88A	55704	broad.mit.edu	37	2	55561797	55561797	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:55561797C>A	ENST00000436346.1	-	15	3001	c.2160G>T	c.(2158-2160)atG>atT	p.M720I	AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.M720I|CCDC88A_ENST00000413716.2_Missense_Mutation_p.M720I|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.M720I|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	720					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.M720I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTAGCTGAGCCATTTTCATGC	0.388																																							uc002ryv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2158-2160)ATG>ATT		coiled-coil domain containing 88A isoform 1							89.0	91.0	90.0					2																	55561797		2202	4296	6498	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561797C>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2160G>T	2.37:g.55561797C>A	ENSP00000410608:p.Met720Ile					CCDC88A_uc010yoz.1_Missense_Mutation_p.M720I|CCDC88A_uc010ypa.1_Missense_Mutation_p.M720I|CCDC88A_uc010ypb.1_Missense_Mutation_p.M622I|CCDC88A_uc002ryu.2_Missense_Mutation_p.M3I|CCDC88A_uc002ryw.2_Missense_Mutation_p.M3I	p.M720I	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			15	3002	-			720			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2160G>T		.	.	.	.	.	.	.	.	.	.	C	2.571	-0.299735	0.05532	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.12569	2.67;2.88;2.9;2.68	4.86	4.86	0.63082	.	0.000000	0.64402	U	0.000017	T	0.09468	0.0233	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.0;0.0	T	0.19257	-1.0311	10	0.26408	T	0.33	-12.7917	12.8387	0.57788	0.0:0.9204:0.0:0.0796	.	720;720;720;720;720	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	I	720	ENSP00000338728:M720I;ENSP00000263630:M720I;ENSP00000410608:M720I;ENSP00000404431:M720I	ENSP00000263630:M720I	M	-	3	0	CCDC88A	55415301	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.670000	0.37502	2.417000	0.82017	0.456000	0.33151	ATG		0.388	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		22	61	1	0	2.39556e-15	0.00278	3.34751e-15	22	61				
ADD2	119	broad.mit.edu	37	2	70906031	70906031	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:70906031A>T	ENST00000264436.4	-	11	1632	c.1188T>A	c.(1186-1188)agT>agA	p.S396R	ADD2_ENST00000430656.1_Missense_Mutation_p.S412R|ADD2_ENST00000413157.2_Missense_Mutation_p.S396R|ADD2_ENST00000407644.2_Missense_Mutation_p.S396R|ADD2_ENST00000355733.3_Missense_Mutation_p.S396R	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	396					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.S396R(2)|p.S412R(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCTCCACCTCACTTTTGTGTT	0.527																																							uc002sgz.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|pancreas(1)	3						c.(1186-1188)AGT>AGA		adducin 2 isoform a							153.0	150.0	151.0					2																	70906031		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70906031A>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1188T>A	2.37:g.70906031A>T	ENSP00000264436:p.Ser396Arg					ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.S396R|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.S396R|ADD2_uc010fdt.1_Missense_Mutation_p.S396R|ADD2_uc002shc.1_Missense_Mutation_p.S396R|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.S412R	p.S396R	NM_001617	NP_001608	P35612	ADDB_HUMAN			11	1653	-			396					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1188T>A	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.847881	0.51164	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.23	1.36	0.22044	.	0.096756	0.64402	D	0.000001	T	0.12561	0.0305	N	0.21097	0.63	0.35890	D	0.829616	B;B;P;B	0.36282	0.103;0.193;0.546;0.056	B;B;B;B	0.35931	0.134;0.162;0.214;0.021	T	0.16541	-1.0399	10	0.56958	D	0.05	-9.7788	7.6516	0.28352	0.6303:0.0:0.3697:0.0	.	412;396;396;396	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	R	396;396;396;396;396;412	ENSP00000264436:S396R;ENSP00000384677:S396R;ENSP00000347972:S396R;ENSP00000388072:S396R;ENSP00000398112:S412R	ENSP00000264436:S396R	S	-	3	2	ADD2	70759539	0.449000	0.25689	1.000000	0.80357	0.994000	0.84299	-0.279000	0.08479	0.102000	0.17638	0.533000	0.62120	AGT		0.527	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		28	111	0	0	0	0.008361	0	28	111				
CLEC4F	165530	broad.mit.edu	37	2	71043658	71043658	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:71043658G>C	ENST00000272367.2	-	4	931	c.855C>G	c.(853-855)atC>atG	p.I285M	CLEC4F_ENST00000426626.1_Missense_Mutation_p.I285M	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	285					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I285M(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTAGTCCCTGGATCTCAGCAT	0.418																																					Colon(107;10 2157 6841 26035)	Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(853-855)ATC>ATG		C-type lectin, superfamily member 13							84.0	89.0	87.0					2																	71043658		2202	4297	6499	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043658G>C	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.855C>G	2.37:g.71043658G>C	ENSP00000272367:p.Ile285Met					CLEC4F_uc010yqv.1_Missense_Mutation_p.I285M	p.I285M	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			4	932	-			285			Extracellular (Potential).		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.855C>G	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321168	0.41096	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.54675	0.56;0.56	4.04	-3.74	0.04385	.	0.207319	0.24124	N	0.041329	T	0.38639	0.1048	M	0.73217	2.22	0.20403	N	0.999906	B;B	0.22800	0.028;0.075	B;B	0.19666	0.015;0.026	T	0.25363	-1.0134	10	0.33940	T	0.23	.	0.9972	0.01470	0.3237:0.3015:0.2327:0.1421	.	285;285	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	M	285	ENSP00000272367:I285M;ENSP00000390581:I285M	ENSP00000272367:I285M	I	-	3	3	CLEC4F	70897166	0.917000	0.31117	0.307000	0.25127	0.944000	0.59088	-0.205000	0.09411	-0.998000	0.03446	0.313000	0.20887	ATC		0.418	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		69	138	0	0	0	0.01441	0	69	138				
EPB41L5	57669	broad.mit.edu	37	2	120849214	120849214	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:120849214C>G	ENST00000263713.5	+	13	1341	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	EPB41L5_ENST00000452780.1_Missense_Mutation_p.S376C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.S376C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.S376C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.S376C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	376					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.S376C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AAACGATATTCTAGACGAACT	0.378																																							uc002tmg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1126-1128)TCT>TGT		erythrocyte membrane protein band 4.1 like 5							112.0	98.0	103.0					2																	120849214		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120849214C>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1127C>G	2.37:g.120849214C>G	ENSP00000263713:p.Ser376Cys					EPB41L5_uc010flk.2_Missense_Mutation_p.S376C|EPB41L5_uc010fll.2_Missense_Mutation_p.S376C|EPB41L5_uc002tmh.3_Missense_Mutation_p.S376C|EPB41L5_uc010flm.2_Missense_Mutation_p.S180C	p.S376C	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			13	1253	+			376					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1127C>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634708	0.87660	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.82	5.82	0.92795	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.93232	0.7844	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;1.0;1.0	D;D;D;D	0.97110	0.973;1.0;0.973;1.0	D	0.93184	0.6577	10	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	376;376;376;376	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	C	376	ENSP00000263713:S376C;ENSP00000393856:S376C;ENSP00000329687:S376C;ENSP00000393722:S376C;ENSP00000390439:S376C	ENSP00000263713:S376C	S	+	2	0	EPB41L5	120565684	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.710000	0.84655	2.765000	0.95021	0.650000	0.86243	TCT		0.378	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		23	33	0	0	0	0.004656	0	23	33				
MAP3K19	80122	broad.mit.edu	37	2	135745193	135745193	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:135745193A>T	ENST00000375845.3	-	7	1279	c.1249T>A	c.(1249-1251)Tca>Aca	p.S417T	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S434T|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S304T|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	417							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S417T(1)									ACTCTTTTTGAAGCAGCTTTA	0.343																																							uc002tue.1		NA																	1	Substitution - Missense(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1249-1251)TCA>ACA		Yeast Sps1/Ste20-related kinase 4 isoform 1							91.0	92.0	91.0					2																	135745193		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745193A>T	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.1249T>A	2.37:g.135745193A>T	ENSP00000365005:p.Ser417Thr					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S304T|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.S145T|YSK4_uc002tui.3_Missense_Mutation_p.S434T	p.S417T	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1280	-			417					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1249T>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	A	9.980	1.227753	0.22542	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.72394	-0.65;-0.63;1.7	5.03	1.2	0.21068	.	0.259446	0.21064	N	0.080764	T	0.53302	0.1788	L	0.43923	1.385	0.09310	N	0.999998	B;B;B	0.32653	0.091;0.379;0.142	B;B;B	0.28553	0.032;0.091;0.025	T	0.47849	-0.9085	10	0.54805	T	0.06	.	2.8092	0.05436	0.5136:0.2723:0.082:0.1321	.	304;434;417	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	T	417;304;434	ENSP00000365005:S417T;ENSP00000351140:S304T;ENSP00000376647:S434T	ENSP00000351140:S304T	S	-	1	0	YSK4	135461663	0.000000	0.05858	0.010000	0.14722	0.072000	0.16883	0.779000	0.26746	0.352000	0.24053	0.477000	0.44152	TCA		0.343	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		28	120	0	0	0	0.00632	0	28	120				
LRP1B	53353	broad.mit.edu	37	2	141986802	141986802	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:141986802G>T	ENST00000389484.3	-	6	1771	c.800C>A	c.(799-801)gCa>gAa	p.A267E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	267					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.A267E(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)		TAATCCTCCTGCTTTTGTTAT	0.294										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.(799-801)GCA>GAA		low density lipoprotein-related protein 1B							119.0	119.0	119.0					2																	141986802		2202	4300	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141986802G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.800C>A	2.37:g.141986802G>T	ENSP00000374135:p.Ala267Glu	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.A267E	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)	6	1772	-		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)	267			Extracellular (Potential).|LDL-receptor class B 1.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.800C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.701875	0.48307	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93547	-3.24	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.616925	0.14826	U	0.296158	D	0.89870	0.6840	L	0.43152	1.355	0.35138	D	0.768562	B	0.17667	0.023	B	0.12837	0.008	D	0.85741	0.1337	10	0.07030	T	0.85	.	18.3132	0.90208	0.0:0.0:1.0:0.0	.	267	Q9NZR2	LRP1B_HUMAN	E	267;205	ENSP00000374135:A267E	ENSP00000374135:A267E	A	-	2	0	LRP1B	141703272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.373000	0.66162	2.440000	0.82611	0.585000	0.79938	GCA		0.294	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	67	1	0	2.80697e-09	0.010729	3.46808e-09	12	67				
PDE11A	50940	broad.mit.edu	37	2	178879143	178879143	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:178879143C>A	ENST00000286063.6	-	2	1274	c.957G>T	c.(955-957)aaG>aaT	p.K319N	PDE11A_ENST00000358450.4_Missense_Mutation_p.K69N|AC011998.1_ENST00000457053.1_RNA	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	319	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.K69N(1)|p.K319N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ATGATTTTGTCTTGTATCCAG	0.403									Primary Pigmented Nodular Adrenocortical Disease, Familial																														uc002ulq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(955-957)AAG>AAT		phosphodiesterase 11A isoform 4							147.0	132.0	137.0					2																	178879143		2202	4300	6502	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178879143C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.957G>T	2.37:g.178879143C>A	ENSP00000286063:p.Lys319Asn					PDE11A_uc002ulr.2_Missense_Mutation_p.K69N|PDE11A_uc002ult.1_Missense_Mutation_p.K69N	p.K319N	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		2	1275	-			319			GAF 1.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.957G>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131001	0.77549	.	.	ENSG00000128655	ENST00000286063;ENST00000358450	T;T	0.67345	-0.26;-0.26	5.21	5.21	0.72293	GAF (2);	0.043571	0.85682	D	0.000000	T	0.80439	0.4623	M	0.71871	2.18	0.80722	D	1	D;D	0.58970	0.97;0.984	D;P	0.63703	0.917;0.83	T	0.82114	-0.0617	10	0.66056	D	0.02	.	18.1104	0.89533	0.0:1.0:0.0:0.0	.	69;319	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	N	319;69	ENSP00000286063:K319N;ENSP00000351232:K69N	ENSP00000286063:K319N	K	-	3	2	PDE11A	178587389	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.883000	0.56168	2.593000	0.87608	0.467000	0.42956	AAG		0.403	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			8	53	1	0	4.68919e-08	0.008291	5.70548e-08	8	53				
TTN	7273	broad.mit.edu	37	2	179395969	179395969	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:179395969T>C	ENST00000591111.1	-	308	100674	c.100450A>G	c.(100450-100452)Acg>Gcg	p.T33484A	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32557A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26252A|TTN_ENST00000359218.5_Missense_Mutation_p.T26185A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T26060A|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T35125A|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33484					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.T26060A(1)|p.T32555A(1)|p.T26185A(1)|p.T32557A(1)|p.T26252A(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)			GCCAAAGTCGTCTTGATCTTT	0.463																																							uc010zfg.1		NA																	5	Substitution - Missense(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.(97669-97671)ACG>GCG		titin isoform N2-A							156.0	167.0	163.0					2																	179395969		1908	4118	6026	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395969T>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.100450A>G	2.37:g.179395969T>C	ENSP00000465570:p.Thr33484Ala					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26252A|TTN_uc010zfi.1_Missense_Mutation_p.T26185A|TTN_uc010zfj.1_Missense_Mutation_p.T26060A|TTN_uc002umq.2_5'Flank	p.T32557A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	97893	-			33484					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.97669A>G		.	.	.	.	.	.	.	.	.	.	T	10.29	1.308441	0.23821	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	-0.0;0.21;0.19;0.18	5.1	2.59	0.31030	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46132	0.1377	N	0.19112	0.55	0.27988	N	0.935795	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.41413	-0.9510	9	0.87932	D	0	.	9.4337	0.38626	0.4149:0.0:0.0:0.5851	.	26060;26185;26252;33484	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	32557;26060;26252;26185;26057	ENSP00000343764:T32557A;ENSP00000434586:T26060A;ENSP00000340554:T26252A;ENSP00000352154:T26185A	ENSP00000340554:T26252A	T	-	1	0	TTN	179104215	1.000000	0.71417	0.921000	0.36526	0.614000	0.37383	0.939000	0.28978	0.231000	0.21079	0.454000	0.30748	ACG		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		103	170	0	0	0	0.01441	0	103	170				
TTN	7273	broad.mit.edu	37	2	179575399	179575399	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:179575399C>A	ENST00000591111.1	-	96	27698	c.27474G>T	c.(27472-27474)gtG>gtT	p.V9158V	TTN_ENST00000342992.6_Silent_p.V8231V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.V9475V			Q8WZ42	TITIN_HUMAN	titin	13287	Ig-like 74.				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.V8231V(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)			AGTCTTTTCCCACTTCATTCA	0.403																																							uc010zfg.1		NA																	1	Substitution - coding silent(1)		lung(1)	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.(24691-24693)GTG>GTT		titin isoform N2-A							162.0	156.0	158.0					2																	179575399		1905	4128	6033	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575399C>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.27474G>T	2.37:g.179575399C>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V4892V	p.V8231V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	24917	-			9158					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.24693G>T																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	151	1	0	3.59834e-05	0.001168	4.02611e-05	5	151				
TTN	7273	broad.mit.edu	37	2	179614294	179614294	+	Intron	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:179614294T>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.Q4278P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron			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)			AGATTCTCCCTGGTCTTGCAG	0.373																																							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.(12832-12834)CAG>CCG		titin isoform novex-3							61.0	63.0	62.0					2																	179614294		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614294T>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.10360+3556A>C	2.37:g.179614294T>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.Q4278P	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13057	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.12833A>C		.	.	.	.	.	.	.	.	.	.	T	6.938	0.542818	0.13250	.	.	ENSG00000155657	ENST00000360870	T	0.58940	0.3	6.17	0.962	0.19643	.	.	.	.	.	T	0.37544	0.1007	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19031	-1.0318	9	0.30078	T	0.28	.	5.2916	0.15729	0.0:0.2299:0.3268:0.4434	.	4278	Q8WZ42-6	.	P	4278	ENSP00000354117:Q4278P	ENSP00000354117:Q4278P	Q	-	2	0	TTN	179322539	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.181000	0.16880	-0.073000	0.12842	0.533000	0.62120	CAG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	69	0	0	0	0.001984	0	6	69				
ZNF804A	91752	broad.mit.edu	37	2	185798422	185798422	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:185798422C>A	ENST00000302277.6	+	3	942	c.348C>A	c.(346-348)cgC>cgA	p.R116R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116							metal ion binding (GO:0046872)	p.R116R(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						CACTCCAACGCCTGCACAAGC	0.403																																							uc002uph.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(346-348)CGC>CGA		zinc finger protein 804A							56.0	58.0	57.0					2																	185798422		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185798422C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.348C>A	2.37:g.185798422C>A							p.R116R	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			3	942	+			116					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.348C>A	CCDS2291.1																																																																																				0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		7	34	1	0	0.00198382	0.001984	0.00213745	7	34				
COL3A1	1281	broad.mit.edu	37	2	189873816	189873816	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:189873816C>A	ENST00000304636.3	+	48	3862	c.3692C>A	c.(3691-3693)aCc>aAc	p.T1231N	COL3A1_ENST00000317840.5_Missense_Mutation_p.T928N	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1231					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.T1231N(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)	AAAATCAACACCGATGAGATT	0.458																																							uc002uqj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(3691-3693)ACC>AAC		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						112.0	117.0	115.0					2																	189873816		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.chr2:189873816C>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.3692C>A	2.37:g.189873816C>A	ENSP00000304408:p.Thr1231Asn						p.T1231N	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		48	3809	+			1231					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.3692C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194453	0.58017	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.90261	-2.48;-2.64	5.54	5.54	0.83059	Fibrillar collagen, C-terminal (1);	0.000000	0.53938	D	0.000060	T	0.81621	0.4861	N	0.08118	0	0.28926	N	0.89184	P	0.49961	0.93	P	0.44860	0.462	T	0.77487	-0.2569	10	0.37606	T	0.19	.	10.584	0.45271	0.0:0.8826:0.0:0.1174	.	1231	P02461	CO3A1_HUMAN	N	1231;928	ENSP00000304408:T1231N;ENSP00000315243:T928N	ENSP00000304408:T1231N	T	+	2	0	COL3A1	189582061	0.999000	0.42202	0.987000	0.45799	0.990000	0.78478	3.709000	0.54853	2.601000	0.87937	0.655000	0.94253	ACC		0.458	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		36	147	1	0	4.00102e-26	0.00623	6.12596e-26	36	147				
FAM134A	79137	broad.mit.edu	37	2	220045854	220045854	+	Missense_Mutation	SNP	G	G	T	rs149941380	byFrequency	TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:220045854G>T	ENST00000430297.2	+	6	847	c.711G>T	c.(709-711)gaG>gaT	p.E237D		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	237						integral component of membrane (GO:0016021)		p.E237D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCGCCTGGAGCCCCTGCTCA	0.542																																							uc002vjw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(709-711)GAG>GAT		hypothetical protein LOC79137							107.0	104.0	105.0					2																	220045854		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220045854G>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.711G>T	2.37:g.220045854G>T	ENSP00000395249:p.Glu237Asp					FAM134A_uc010fwc.2_Missense_Mutation_p.E30D|FAM134A_uc002vjx.2_Missense_Mutation_p.E30D	p.E237D	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	847	+		Renal(207;0.0915)	237					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.711G>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769731	0.90020	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000452022;ENST00000443518	T;T;T	0.48522	0.81;0.81;0.81	5.32	5.32	0.75619	.	0.048477	0.85682	D	0.000000	T	0.65228	0.2671	M	0.68593	2.085	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.986	T	0.67780	-0.5582	10	0.72032	D	0.01	-14.0196	12.3575	0.55184	0.0771:0.0:0.9229:0.0	.	30;237	E7EUL4;Q8NC44	.;F134A_HUMAN	D	30;237;30;30	ENSP00000403898:E30D;ENSP00000395249:E237D;ENSP00000391284:E30D	ENSP00000395249:E237D	E	+	3	2	FAM134A	219754098	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.304000	0.51866	2.476000	0.83614	0.655000	0.94253	GAG		0.542	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		23	126	1	0	7.87624e-14	0.00278	1.07709e-13	23	126				
OBSL1	23363	broad.mit.edu	37	2	220434961	220434961	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:220434961C>A	ENST00000404537.1	-	1	1050	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L	OBSL1_ENST00000265318.4_Missense_Mutation_p.V332L|OBSL1_ENST00000603926.1_Missense_Mutation_p.V332L|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000373873.4_Missense_Mutation_p.V332L|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Missense_Mutation_p.V332L|OBSL1_ENST00000289656.3_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	332					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.V332L(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGCAGCTGCACGGCACTGAGC	0.692																																							uc010fwk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(994-996)GTG>TTG		obscurin-like 1							14.0	16.0	16.0					2																	220434961		2000	4120	6120	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220434961C>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.994G>T	2.37:g.220434961C>A	ENSP00000385636:p.Val332Leu					OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.V332L|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	p.V332L	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	1	1051	-		Renal(207;0.0376)	332					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.994G>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660483	0.67586	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82907	0.5139	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.91635	0.999;0.938	D	0.83496	0.0072	9	0.49607	T	0.09	.	18.0228	0.89260	0.0:1.0:0.0:0.0	.	332;332	O75147;O75147-2	OBSL1_HUMAN;.	L	332	ENSP00000265318:V332L;ENSP00000385636:V332L;ENSP00000362983:V332L;ENSP00000362980:V332L	ENSP00000265318:V332L	V	-	1	0	OBSL1	220143205	1.000000	0.71417	0.931000	0.37212	0.083000	0.17756	7.576000	0.82467	2.491000	0.84063	0.407000	0.27541	GTG		0.692	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			11	15	1	0	3.07112e-06	0.010729	3.52243e-06	11	15				
ALPI	248	broad.mit.edu	37	2	233322813	233322813	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:233322813A>G	ENST00000295463.3	+	8	1039	c.962A>G	c.(961-963)aAc>aGc	p.N321S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	321					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.N321S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTGAGCAGGAACCCCCGCGGC	0.647																																							uc002vst.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(961-963)AAC>AGC		intestinal alkaline phosphatase precursor							60.0	68.0	65.0					2																	233322813		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322813A>G	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.962A>G	2.37:g.233322813A>G	ENSP00000295463:p.Asn321Ser					ALPI_uc002vsu.3_Missense_Mutation_p.N232S	p.N321S	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	8	1039	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	321					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.962A>G	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.839672	0.51057	.	.	ENSG00000163295	ENST00000295463	D	0.96365	-3.99	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.044771	0.85682	D	0.000000	D	0.97782	0.9272	M	0.80183	2.485	0.46011	D	0.998817	D	0.76494	0.999	D	0.77004	0.989	D	0.98314	1.0525	10	0.66056	D	0.02	.	13.0739	0.59077	1.0:0.0:0.0:0.0	.	321	P09923	PPBI_HUMAN	S	321	ENSP00000295463:N321S	ENSP00000295463:N321S	N	+	2	0	ALPI	233031057	1.000000	0.71417	0.973000	0.42090	0.018000	0.09664	8.723000	0.91458	1.880000	0.54463	0.459000	0.35465	AAC		0.647	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		10	43	0	0	0	0.006122	0	10	43				
INPP5D	3635	broad.mit.edu	37	2	234106843	234106843	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:234106843C>T	ENST00000359570.5	+	27	2760	c.2760C>T	c.(2758-2760)acC>acT	p.T920T	INPP5D_ENST00000455936.2_Silent_p.T684T|INPP5D_ENST00000450745.1_Silent_p.T684T			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	932	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.T932T(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGCAGACCTTGTCCCCTG	0.647																																					NSCLC(82;1215 1426 16163 20348 41018)	NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2794-2796)ACC>ACT		SH2 containing inositol phosphatase isoform a							32.0	36.0	35.0					2																	234106843		1993	4172	6165	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234106843C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2760C>T	2.37:g.234106843C>T						INPP5D_uc010zmp.1_Silent_p.T931T	p.T932T	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	24	2949	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	932			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.2796C>T																																																																																					0.647	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		5	40	0	0	0	0.001984	0	5	40				
COL6A3	1293	broad.mit.edu	37	2	238234302	238234302	+	Missense_Mutation	SNP	G	G	A	rs147533489		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:238234302G>A	ENST00000295550.4	-	43	9846	c.9394C>T	c.(9394-9396)Cca>Tca	p.P3132S	COL6A3_ENST00000409809.1_Missense_Mutation_p.P2926S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2926S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2932S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2931S|COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2525S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3132	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P3132S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGTGTTTGGATCATAGTAC	0.373													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19630	0.0		0.0	False		,,,				2504	0.0						uc002vwl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(9394-9396)CCA>TCA		alpha 3 type VI collagen isoform 1 precursor		G	SER/PRO,SER/PRO,SER/PRO	0,4406		0,0,2203	132.0	136.0	135.0		8776,7573,9394	-10.8	0.0	2	dbSNP_134	135	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	COL6A3	NM_057167.3,NM_057166.4,NM_004369.3	74,74,74	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign,benign,benign	2926/2972,2525/2571,3132/3178	238234302	4,13002	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238234302G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9394C>T	2.37:g.238234302G>A	ENSP00000295550:p.Pro3132Ser					COL6A3_uc002vwo.2_Missense_Mutation_p.P2926S|COL6A3_uc010znj.1_Missense_Mutation_p.P2525S|COL6A3_uc002vwj.2_Missense_Mutation_p.P513S	p.P3132S	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	43	9679	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	3132			Nonhelical region.|BPTI/Kunitz inhibitor.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.9394C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	6.359	0.434374	0.12045	0.0	4.65E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.4	-10.8	0.00216	Proteinase inhibitor I2, Kunitz metazoa (5);	1.243700	0.05827	N	0.616894	T	0.20618	0.0496	N	0.10760	0.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.005	T	0.09143	-1.0688	10	0.14656	T	0.56	.	2.1889	0.03893	0.2723:0.3804:0.1304:0.2169	.	2525;2926;3132	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	S	3132;2931;2926;2525;2926;2932	ENSP00000295550:P3132S;ENSP00000315609:P2931S;ENSP00000315873:P2926S;ENSP00000418285:P2525S;ENSP00000386844:P2926S;ENSP00000295546:P2932S	ENSP00000295550:P3132S	P	-	1	0	COL6A3	237899041	0.000000	0.05858	0.000000	0.03702	0.638000	0.38207	-5.039000	0.00157	-4.020000	0.00081	-0.311000	0.09066	CCA		0.373	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		26	184	0	0	0	0.00632	0	26	184				
ENTPD6	955	broad.mit.edu	37	20	25199194	25199194	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:25199194G>T	ENST00000376652.4	+	10	1050	c.887G>T	c.(886-888)gGg>gTg	p.G296V	ENTPD6_ENST00000433259.2_Missense_Mutation_p.G296V|ENTPD6_ENST00000360031.2_Missense_Mutation_p.G295V|ENTPD6_ENST00000354989.5_Missense_Mutation_p.G279V			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	296					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.G296V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGCTACCTCGGGCTCGGGCTG	0.667																																							uc002wuj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(886-888)GGG>GTG		ectonucleoside triphosphate diphosphohydrolase 6							43.0	33.0	36.0					20																	25199194		2202	4300	6502	SO:0001583	missense	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25199194G>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.887G>T	20.37:g.25199194G>T	ENSP00000365840:p.Gly296Val					ENTPD6_uc010zsy.1_Missense_Mutation_p.G296V|ENTPD6_uc010gdj.1_Missense_Mutation_p.G268V|ENTPD6_uc010zsz.1_Missense_Mutation_p.G78V|ENTPD6_uc002wum.2_Missense_Mutation_p.G279V|ENTPD6_uc010zta.1_Missense_Mutation_p.G296V|ENTPD6_uc002wun.2_Missense_Mutation_p.G296V|ENTPD6_uc002wuk.2_Missense_Mutation_p.G295V|ENTPD6_uc002wul.2_Missense_Mutation_p.G295V|ENTPD6_uc010ztb.1_Missense_Mutation_p.G268V|ENTPD6_uc010ztc.1_Missense_Mutation_p.G268V|ENTPD6_uc002wuo.2_Missense_Mutation_p.G48V|ENTPD6_uc010ztd.1_Missense_Mutation_p.G78V	p.G296V	NM_001247	NP_001238	O75354	ENTP6_HUMAN			10	1067	+			296			Lumenal (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.887G>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.019120|4.019120	0.75275|0.75275	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000433259;ENST00000425813	T;T|T;T;T;T;T;T	0.12672|0.12774	2.66;2.66|2.65;2.65;2.65;2.65;2.65;2.65	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51822|0.51822	0.1697|0.1697	H|H	0.95816|0.95816	3.725|3.725	0.80722|0.80722	D|D	1|1	.|D;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;1.0	.|D;D;D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	T|T	0.67593|0.67593	-0.5631|-0.5631	8|10	0.72032|0.87932	D|D	0.01|0	-24.5873|-24.5873	17.4941|17.4941	0.87712|0.87712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|78;278;296;296;296;279;295;295;296	.|B4DHS2;B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;.;ENTP6_HUMAN	C|V	217;189|279;295;216;192;296;278;296;248	ENSP00000390095:G217C;ENSP00000406975:G189C|ENSP00000347084:G279V;ENSP00000353131:G295V;ENSP00000365840:G296V;ENSP00000408098:G278V;ENSP00000401895:G296V;ENSP00000390646:G248V	ENSP00000390095:G217C|ENSP00000347084:G279V	G|G	+|+	1|2	0|0	ENTPD6|ENTPD6	25147194|25147194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.522000|0.522000	0.34438|0.34438	7.482000|7.482000	0.81143|0.81143	2.482000|2.482000	0.83794|0.83794	0.462000|0.462000	0.41574|0.41574	GGC|GGG		0.667	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			5	6	1	0	3.59834e-05	0.001168	4.02611e-05	5	6				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																							uc010ztl.1		NA																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(154-156)TTG>TCG		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S	p.L52S							3	187	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.155T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	113	0	0	0	0.00308	0	4	113				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																							uc010ztl.1		NA																	4	Substitution - Missense(4)		prostate(2)|kidney(2)		0						c.(175-177)ATT>GTT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V	p.I59V							3	207	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.175A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	102	0	0	0	0.004482	0	6	102				
XKR7	343702	broad.mit.edu	37	20	30584719	30584719	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:30584719G>A	ENST00000562532.2	+	3	1373	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	400						integral component of membrane (GO:0016021)		p.G400D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCGCTCACCGGCTTCTGGTAC	0.582																																							uc002wxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1198-1200)GGC>GAC		XK, Kell blood group complex subunit-related							64.0	60.0	61.0					20																	30584719		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584719G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1199G>A	20.37:g.30584719G>A	ENSP00000477059:p.Gly400Asp						p.G400D	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1373	+			400			Helical; (Potential).		Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1199G>A	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531340	0.64972	.	.	ENSG00000101321	ENST00000217299	T	0.63255	-0.03	5.16	5.16	0.70880	.	0.365309	0.29737	N	0.011328	T	0.66665	0.2812	L	0.49778	1.585	0.32076	N	0.593739	D	0.54601	0.967	P	0.55749	0.783	T	0.71563	-0.4555	10	0.37606	T	0.19	.	11.503	0.50448	0.0:0.0:0.713:0.287	.	400	Q5GH72	XKR7_HUMAN	D	400	ENSP00000217299:G400D	ENSP00000217299:G400D	G	+	2	0	XKR7	30048380	0.596000	0.26866	0.999000	0.59377	0.903000	0.53119	1.933000	0.40153	2.399000	0.81585	0.561000	0.74099	GGC		0.582	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		13	68	0	0	0	0.013537	0	13	68				
STAU1	6780	broad.mit.edu	37	20	47770537	47770537	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:47770537C>A	ENST00000371856.2	-	4	687	c.277G>T	c.(277-279)Gtt>Ttt	p.V93F	STAU1_ENST00000340954.7_Missense_Mutation_p.V12F|STAU1_ENST00000371802.1_Missense_Mutation_p.V12F|STAU1_ENST00000371828.3_Missense_Mutation_p.V12F|STAU1_ENST00000347458.5_Missense_Mutation_p.V12F|STAU1_ENST00000371792.1_Missense_Mutation_p.V12F|STAU1_ENST00000360426.4_Missense_Mutation_p.V12F	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	93	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.V93F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TAAGGGTCAACAGGCTTATAC	0.378																																							uc002xud.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(1)	5						c.(277-279)GTT>TTT		staufen isoform b							199.0	173.0	182.0					20																	47770537		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47770537C>A		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.277G>T	20.37:g.47770537C>A	ENSP00000360922:p.Val93Phe					STAU1_uc002xua.2_Missense_Mutation_p.V12F|STAU1_uc002xub.2_Missense_Mutation_p.V12F|STAU1_uc002xuc.2_Missense_Mutation_p.V12F|STAU1_uc002xue.2_Missense_Mutation_p.V12F|STAU1_uc002xuf.2_Missense_Mutation_p.V12F|STAU1_uc002xug.2_Missense_Mutation_p.V93F	p.V93F	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		4	688	-			93			DRBM 1.		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.277G>T	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698642	0.68501	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404;ENST00000456866	T;T;T;T;T;T;T;T	0.51071	1.33;1.34;1.44;1.34;1.34;1.33;1.33;0.72	5.43	5.43	0.79202	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.265555	0.39615	N	0.001305	T	0.44705	0.1306	L	0.43152	1.355	0.39148	D	0.962178	D;B	0.53151	0.958;0.136	P;B	0.49597	0.616;0.13	T	0.49688	-0.8913	10	0.56958	D	0.05	-12.6074	5.9062	0.19002	0.1873:0.6975:0.0:0.1152	.	93;12	O95793;Q5JW29	STAU1_HUMAN;.	F	12;12;93;12;12;12;12;12;12;52	ENSP00000360893:V12F;ENSP00000345425:V12F;ENSP00000360922:V93F;ENSP00000353604:V12F;ENSP00000323443:V12F;ENSP00000360867:V12F;ENSP00000360857:V12F;ENSP00000416779:V12F	ENSP00000345425:V12F	V	-	1	0	STAU1	47203944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.347000	0.52200	2.705000	0.92388	0.650000	0.86243	GTT		0.378	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		83	61	1	0	2.84431e-33	0.01441	4.52825e-33	83	61				
LAMA5	3911	broad.mit.edu	37	20	60927018	60927018	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:60927018G>T	ENST00000252999.3	-	5	871	c.805C>A	c.(805-807)Ctg>Atg	p.L269M	RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000477848.1_RNA|LAMA5_ENST00000370692.3_Missense_Mutation_p.L269M|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370677.3_Missense_Mutation_p.L269M	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	269	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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.L269M(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)			TGGCCCAGCAGCGTGTTGGTA	0.687																																							uc002ycq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(805-807)CTG>ATG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						58.0	43.0	49.0					20																	60927018		2201	4292	6493	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.chr20:60927018G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.805C>A	20.37:g.60927018G>T	ENSP00000252999:p.Leu269Met						p.L269M	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		5	872	-	Breast(26;1.57e-08)		269			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.805C>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	20.8	4.053470	0.75960	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	D;D;D	0.81739	-1.53;-1.53;-1.53	4.24	4.24	0.50183	Laminin, N-terminal (3);	0.000000	0.64402	U	0.000002	D	0.90909	0.7143	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92223	0.5786	10	0.66056	D	0.02	.	11.3008	0.49304	0.0899:0.0:0.9101:0.0	.	269	O15230	LAMA5_HUMAN	M	269	ENSP00000252999:L269M;ENSP00000359726:L269M;ENSP00000359711:L269M	ENSP00000252999:L269M	L	-	1	2	LAMA5	60360413	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.608000	0.67654	1.915000	0.55452	0.486000	0.48141	CTG		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		19	7	1	0	5.45024e-15	0.00333	7.55012e-15	19	7				
ADAMTS5	11096	broad.mit.edu	37	21	28337760	28337760	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:28337760C>A	ENST00000284987.5	-	1	1072	c.951G>T	c.(949-951)aaG>aaT	p.K317N		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	317	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K317N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCACCACCACCTTCACCACGG	0.587																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(949-951)AAG>AAT		ADAM metallopeptidase with thrombospondin type 1							139.0	119.0	126.0					21																	28337760		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28337760C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.951G>T	21.37:g.28337760C>A	ENSP00000284987:p.Lys317Asn						p.K317N	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	1680	-			317			Peptidase M12B.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.951G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374775	0.61735	.	.	ENSG00000154736	ENST00000284987	D	0.86497	-2.13	4.88	2.06	0.26882	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.057993	0.64402	D	0.000002	D	0.91737	0.7387	M	0.79258	2.445	0.49389	D	0.999781	D	0.89917	1.0	D	0.72982	0.979	D	0.90154	0.4223	10	0.59425	D	0.04	.	10.1634	0.42866	0.0:0.7808:0.0:0.2191	.	317	Q9UNA0	ATS5_HUMAN	N	317	ENSP00000284987:K317N	ENSP00000284987:K317N	K	-	3	2	ADAMTS5	27259631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.927000	0.28818	0.246000	0.21394	0.655000	0.94253	AAG		0.587	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			9	138	1	0	3.09899e-07	0.004482	3.65932e-07	9	138				
TIAM1	7074	broad.mit.edu	37	21	32638630	32638630	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:32638630G>T	ENST00000286827.3	-	5	1130	c.659C>A	c.(658-660)cCg>cAg	p.P220Q	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.P220Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	220					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P220Q(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAGCTGCCGCGGACTCGCCCG	0.552																																							uc002yow.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(658-660)CCG>CAG		T-cell lymphoma invasion and metastasis 1																																				SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638630G>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.659C>A	21.37:g.32638630G>T	ENSP00000286827:p.Pro220Gln					TIAM1_uc011adk.1_Missense_Mutation_p.P220Q|TIAM1_uc011adl.1_Missense_Mutation_p.P220Q|TIAM1_uc002yox.1_Intron	p.P220Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			5	1131	-			220					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.659C>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014613	0.54468	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036;ENST00000455508	T;T	0.41065	1.04;1.01	5.41	5.41	0.78517	.	0.067004	0.64402	D	0.000013	T	0.35770	0.0943	L	0.33485	1.01	0.35984	D	0.836255	P;P;P	0.44380	0.772;0.662;0.834	B;B;B	0.41860	0.368;0.203;0.186	T	0.40327	-0.9569	10	0.38643	T	0.18	.	15.0545	0.71904	0.0:0.0:0.8576:0.1424	.	220;220;220	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	Q	220;61;220;220	ENSP00000286827:P220Q;ENSP00000441570:P220Q	ENSP00000286827:P220Q	P	-	2	0	TIAM1	31560501	1.000000	0.71417	0.956000	0.39512	0.919000	0.55068	3.161000	0.50747	2.807000	0.96579	0.591000	0.81541	CCG		0.552	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		44	49	1	0	1.17253e-29	0.01441	1.83029e-29	44	49				
C2CD2	25966	broad.mit.edu	37	21	43319393	43319393	+	Missense_Mutation	SNP	C	C	A	rs567596181		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:43319393C>A	ENST00000380486.3	-	13	1880	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	C2CD2_ENST00000329623.7_Missense_Mutation_p.A392S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	547						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.A547S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGGGATGGGGCGTCCTCCTGG	0.667																																							uc002yzw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1639-1641)GCC>TCC		C2 calcium-dependent domain containing 2 isoform							22.0	27.0	25.0					21																	43319393		2187	4273	6460	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43319393C>A	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1639G>T	21.37:g.43319393C>A	ENSP00000369853:p.Ala547Ser					C2CD2_uc002yzs.2_Missense_Mutation_p.A16S|C2CD2_uc002yzt.2_Missense_Mutation_p.A163S|C2CD2_uc002yzu.2_Missense_Mutation_p.A379S|C2CD2_uc002yzv.2_Missense_Mutation_p.A392S	p.A547S	NM_015500	NP_056315	Q9Y426	CU025_HUMAN			13	1881	-			547					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.1639G>T	CCDS42933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.193|7.193	0.591845|0.591845	0.13812|0.13812	.|.	.|.	ENSG00000157617|ENSG00000157617	ENST00000329623;ENST00000380486|ENST00000449165	T;T|.	0.75477|.	-0.94;-0.94|.	4.96|4.96	-5.44|-5.44	0.02624|0.02624	.|.	1.257190|.	0.05226|.	N|.	0.509364|.	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.15141|.	0.012|.	B|.	0.08055|.	0.003|.	T|T	0.26573|0.26573	-1.0099|-1.0099	10|5	0.33141|.	T|.	0.24|.	-3.8013|-3.8013	0.1283|0.1283	0.00071|0.00071	0.2639:0.2452:0.176:0.3149|0.2639:0.2452:0.176:0.3149	.|.	547|.	Q9Y426|.	CU025_HUMAN|.	S|L	392;547|32	ENSP00000329302:A392S;ENSP00000369853:A547S|.	ENSP00000329302:A392S|.	A|R	-|-	1|2	0|0	C2CD2|C2CD2	42192462|42192462	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-0.802000|-0.802000	0.04545|0.04545	-0.980000|-0.980000	0.03524|0.03524	-0.448000|-0.448000	0.05591|0.05591	GCC|CGC		0.667	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		12	20	1	0	1.67942e-08	0.006122	2.05905e-08	12	20				
KRTAP10-11	386678	broad.mit.edu	37	21	46067170	46067170	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:46067170C>A	ENST00000334670.8	+	1	840	c.795C>A	c.(793-795)tcC>tcA	p.S265S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	265	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S265S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCTGCCAGTCCAGCTGCTGCC	0.692																																							uc002zfr.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(793-795)TCC>TCA		keratin associated protein 10-11							42.0	55.0	51.0					21																	46067170		2200	4291	6491	SO:0001819	synonymous_variant	386678					keratin filament		g.chr21:46067170C>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.795C>A	21.37:g.46067170C>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S265S	NM_198692	NP_941965	P60412	KR10B_HUMAN			1	840	+			265			25 X 5 AA repeats of C-C-X(3).		A2RRF9	Silent	SNP	ENST00000334670.8	37	c.795C>A	CCDS42962.1																																																																																				0.692	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		26	14	1	0	3.21987e-24	0.01441	4.86018e-24	26	14				
MCM3AP	8888	broad.mit.edu	37	21	47655246	47655246	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:47655246G>A	ENST00000397708.1	-	29	6133	c.5879C>T	c.(5878-5880)tCa>tTa	p.S1960L	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1960L|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1960					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.S1960L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCCCTTGAACTCCGGAT	0.552																																							uc002zir.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(5878-5880)TCA>TTA		minichromosome maintenance complex component 3							108.0	81.0	90.0					21																	47655246		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47655246G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5879C>T	21.37:g.47655246G>A	ENSP00000380820:p.Ser1960Leu					MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.S455L|MCM3AP_uc002zip.1_Missense_Mutation_p.S701L|MCM3AP_uc002ziq.1_Missense_Mutation_p.S887L|MCM3APAS_uc002zis.1_5'Flank	p.S1960L	NM_003906	NP_003897	O60318	MCM3A_HUMAN			28	5915	-	Breast(49;0.112)		1960					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.5879C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399511	0.42512	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03745	3.82;3.82	4.94	4.94	0.65067	.	0.697953	0.13400	N	0.390697	T	0.03520	0.0101	N	0.24115	0.695	0.09310	N	1	B;P	0.34724	0.267;0.465	B;B	0.31101	0.086;0.124	T	0.41770	-0.9490	10	0.59425	D	0.04	-5.273	12.2007	0.54323	0.0:0.0:0.8305:0.1695	.	1960;455	O60318;B3KT88	MCM3A_HUMAN;.	L	1960;1960;455	ENSP00000380820:S1960L;ENSP00000291688:S1960L	ENSP00000291688:S1960L	S	-	2	0	MCM3AP	46479674	0.244000	0.23889	0.379000	0.26080	0.738000	0.42128	1.875000	0.39578	2.297000	0.77311	0.655000	0.94253	TCA		0.552	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		31	18	0	0	0	0.008361	0	31	18				
PRAME	23532	broad.mit.edu	37	22	22893228	22893228	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr22:22893228T>A	ENST00000398741.1	-	4	611	c.305A>T	c.(304-306)gAt>gTt	p.D102V	PRAME_ENST00000539862.1_Missense_Mutation_p.D86V|PRAME_ENST00000402697.1_Missense_Mutation_p.D102V|PRAME_ENST00000543184.1_Missense_Mutation_p.D102V|PRAME_ENST00000398743.2_Missense_Mutation_p.D102V|PRAME_ENST00000405655.3_Missense_Mutation_p.D102V|PRAME_ENST00000406503.1_Missense_Mutation_p.D102V|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000424204.2_Missense_Mutation_p.D86V	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	102					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.D102V(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)		ATCAAGTCCATCAAGCACAGC	0.597																																					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.(304-306)GAT>GTT		preferentially expressed antigen in melanoma							139.0	114.0	122.0					22																	22893228		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.chr22:22893228T>A	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.305A>T	22.37:g.22893228T>A	ENSP00000381726:p.Asp102Val					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.D86V|PRAME_uc010gtr.2_Missense_Mutation_p.D102V|PRAME_uc002zwg.2_Missense_Mutation_p.D102V|PRAME_uc002zwh.2_Missense_Mutation_p.D102V|PRAME_uc002zwi.2_Missense_Mutation_p.D102V|PRAME_uc002zwj.2_Missense_Mutation_p.D102V|PRAME_uc002zwk.2_Missense_Mutation_p.D102V	p.D102V	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	3	461	-	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)	102					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.305A>T	CCDS13801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	11.39|11.39	1.624144|1.624144	0.28889|0.28889	.|.	.|.	ENSG00000185686|ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106;ENST00000420709;ENST00000406503|ENST00000438888	T;T;T;T;T;T;T;T;T;T|.	0.06068|.	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35|.	3.46|3.46	0.789|0.789	0.18607|0.18607	.|.	0.850130|.	0.10271|.	N|.	0.694799|.	T|.	0.59715|.	0.2214|.	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	1|1	D|.	0.61697|.	0.99|.	D|.	0.66847|.	0.947|.	T|.	0.54820|.	-0.8236|.	10|.	0.87932|.	D|.	0|.	.|.	3.8848|3.8848	0.09094|0.09094	0.0:0.1711:0.4153:0.4136|0.0:0.1711:0.4153:0.4136	.|.	102|.	P78395|.	PRAME_HUMAN|.	V|C	102;102;102;102;86;102;86;102;102;102|125	ENSP00000381728:D102V;ENSP00000445675:D102V;ENSP00000381726:D102V;ENSP00000384343:D102V;ENSP00000445097:D86V;ENSP00000385198:D102V;ENSP00000407342:D86V;ENSP00000407320:D102V;ENSP00000412318:D102V;ENSP00000384058:D102V|.	ENSP00000381726:D102V|.	D|X	-|-	2|3	0|0	PRAME|PRAME	21223228|21223228	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.010000|0.010000	0.07245|0.07245	-0.089000|-0.089000	0.11180|0.11180	0.099000|0.099000	0.17552|0.17552	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.597	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		26	117	0	0	0	0.003954	0	26	117				
FBLN2	2199	broad.mit.edu	37	3	13659609	13659609	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:13659609T>A	ENST00000295760.7	+	6	1832	c.1763T>A	c.(1762-1764)cTg>cAg	p.L588Q	FBLN2_ENST00000535798.1_Missense_Mutation_p.L614Q|FBLN2_ENST00000404922.3_Missense_Mutation_p.L588Q|FBLN2_ENST00000492059.1_Missense_Mutation_p.L588Q	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	588					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.L7Q(1)|p.L588Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGAGAGGCCCTGTCACTGGGC	0.617																																							uc011avb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1762-1764)CTG>CAG		fibulin 2 isoform b precursor							86.0	98.0	94.0					3																	13659609		2015	4176	6191	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13659609T>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1763T>A	3.37:g.13659609T>A	ENSP00000295760:p.Leu588Gln					FBLN2_uc011auz.1_Missense_Mutation_p.L614Q|FBLN2_uc011ava.1_Missense_Mutation_p.L588Q|FBLN2_uc011avc.1_Missense_Mutation_p.L588Q	p.L588Q	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		6	1888	+			588					B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.1763T>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	t	15.88	2.964431	0.53507	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.81330	-1.48;-1.4;-1.37;-1.4	4.92	4.92	0.64577	.	0.080000	0.52532	D	0.000067	D	0.83059	0.5172	L	0.29908	0.895	0.44316	D	0.997198	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.999	D	0.83423	0.0034	10	0.45353	T	0.12	.	12.799	0.57576	0.0:0.0:0.0:1.0	.	588;588;614	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	Q	614;588;588;588	ENSP00000445705:L614Q;ENSP00000384169:L588Q;ENSP00000295760:L588Q;ENSP00000420042:L588Q	ENSP00000295760:L588Q	L	+	2	0	FBLN2	13634610	1.000000	0.71417	0.998000	0.56505	0.296000	0.27459	4.337000	0.59310	1.842000	0.53543	0.520000	0.50463	CTG		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		39	62	0	0	0	0.01441	0	39	62				
EPHA6	285220	broad.mit.edu	37	3	97356765	97356765	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:97356765G>A	ENST00000514100.1	+	11	1041	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000502694.1_Missense_Mutation_p.G267S|EPHA6_ENST00000389672.5_Missense_Mutation_p.G875S	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	781						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.G267S(1)|p.G875S(1)|p.G781S(1)		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						AATGCTCCGAGGCATTGCATC	0.423																																							uc010how.1		NA																	3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2623-2625)GGC>AGC		EPH receptor A6 isoform a							198.0	193.0	195.0					3																	97356765		1975	4178	6153	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97356765G>A	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	ENST00000514100.1:c.799G>A	3.37:g.97356765G>A	ENSP00000421711:p.Gly267Ser					EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.G267S|EPHA6_uc003drr.3_Missense_Mutation_p.G267S|EPHA6_uc003drt.2_Missense_Mutation_p.G267S|EPHA6_uc010hox.1_RNA	p.G875S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			14	2666	+			780			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2623G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.602373	0.96614	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694	T;T;T	0.63255	-0.03;0.9;0.9	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.73938	0.3651	L	0.37561	1.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.75271	-0.3376	9	0.87932	D	0	.	20.0567	0.97653	0.0:0.0:1.0:0.0	.	780;267;267	Q9UF33;Q9UF33-2;D6RAL5	EPHA6_HUMAN;.;.	S	875;267;267	ENSP00000374323:G875S;ENSP00000421711:G267S;ENSP00000423950:G267S	ENSP00000374323:G875S	G	+	1	0	EPHA6	98839455	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.771000	0.98977	2.752000	0.94435	0.650000	0.86243	GGC		0.423	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		22	73	0	0	0	0.003954	0	22	73				
TAGLN3	29114	broad.mit.edu	37	3	111718394	111718394	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:111718394T>C	ENST00000393917.2	+	2	677	c.125T>C	c.(124-126)aTa>aCa	p.I42T	TAGLN3_ENST00000455401.2_Missense_Mutation_p.I42T|TAGLN3_ENST00000478951.1_Missense_Mutation_p.I42T|TAGLN3_ENST00000486460.1_5'Flank|TAGLN3_ENST00000273368.4_Missense_Mutation_p.I42T	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	42	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)		p.I42T(2)		endometrium(2)|lung(5)|urinary_tract(1)	8						GCCGAGGACATAGAGCACCCG	0.607																																							uc003dym.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(124-126)ATA>ACA		transgelin 3							65.0	64.0	65.0					3																	111718394		2203	4300	6503	SO:0001583	missense	29114				central nervous system development|muscle organ development			g.chr3:111718394T>C	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.125T>C	3.37:g.111718394T>C	ENSP00000377494:p.Ile42Thr					TAGLN3_uc003dyl.2_Missense_Mutation_p.I42T|TAGLN3_uc003dyn.2_Missense_Mutation_p.I42T|TAGLN3_uc003dyo.2_Missense_Mutation_p.I42T	p.I42T	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN			2	503	+			42			CH.		D3DN64|Q96A74	Missense_Mutation	SNP	ENST00000393917.2	37	c.125T>C	CCDS33816.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.343070	0.61073	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000494932	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	5.37	4.21	0.49690	Calponin homology domain (5);	0.233058	0.46442	D	0.000299	T	0.64416	0.2596	M	0.84948	2.725	0.41825	D	0.99004	B	0.16603	0.018	B	0.19946	0.027	T	0.67534	-0.5646	10	0.54805	T	0.06	0.0629	10.0354	0.42125	0.0:0.081:0.0:0.919	.	42	Q9UI15	TAGL3_HUMAN	T	42	ENSP00000419105:I42T;ENSP00000377494:I42T;ENSP00000273368:I42T;ENSP00000391160:I42T;ENSP00000420675:I42T	ENSP00000273368:I42T	I	+	2	0	TAGLN3	113201084	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	5.926000	0.70070	2.178000	0.69098	0.533000	0.62120	ATA		0.607	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		16	54	0	0	0	0.012319	0	16	54				
TIGIT	201633	broad.mit.edu	37	3	114014579	114014579	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:114014579T>A	ENST00000486257.1	+	3	506	c.249T>A	c.(247-249)gaT>gaA	p.D83E	TIGIT_ENST00000383671.3_Missense_Mutation_p.D83E|TIGIT_ENST00000481065.1_Missense_Mutation_p.D150E			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	83	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.D83E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CCTTCAAGGATCGAGTGGCCC	0.592																																							uc003ebg.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(247-249)GAT>GAA		T cell immunoreceptor with Ig and ITIM domains							73.0	68.0	70.0					3																	114014579		2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014579T>A	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.249T>A	3.37:g.114014579T>A	ENSP00000419085:p.Asp83Glu						p.D83E	NM_173799	NP_776160	Q495A1	TIGIT_HUMAN			2	283	+			83			Extracellular (Potential).|Ig-like V-type.		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.249T>A	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	T	0.215	-1.033350	0.02029	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.6	-6.92	0.01644	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.780907	0.11562	N	0.551590	T	0.18800	0.0451	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	10	0.02654	T	1	-0.7834	0.1849	0.00128	0.259:0.2243:0.1686:0.3481	.	83	Q495A1	TIGIT_HUMAN	E	62;150;83;83;62	ENSP00000418917:D62E;ENSP00000420552:D150E;ENSP00000419085:D83E;ENSP00000373167:D83E;ENSP00000419706:D62E	ENSP00000373167:D83E	D	+	3	2	TIGIT	115497269	0.005000	0.15991	0.042000	0.18584	0.106000	0.19336	-0.616000	0.05591	-1.615000	0.01573	-0.366000	0.07423	GAT		0.592	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		17	55	0	0	0	0.004007	0	17	55				
ATP2C1	27032	broad.mit.edu	37	3	130682828	130682828	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:130682828G>A	ENST00000510168.1	+	13	1463	c.913G>A	c.(913-915)Gca>Aca	p.A305T	ATP2C1_ENST00000513801.1_Missense_Mutation_p.A289T|ATP2C1_ENST00000422190.2_Missense_Mutation_p.A305T|ATP2C1_ENST00000393221.4_Missense_Mutation_p.A339T|ATP2C1_ENST00000533801.2_Missense_Mutation_p.A300T|ATP2C1_ENST00000508532.1_Missense_Mutation_p.A305T|ATP2C1_ENST00000504381.1_Missense_Mutation_p.A250T|ATP2C1_ENST00000428331.2_Missense_Mutation_p.A305T|ATP2C1_ENST00000504948.1_Missense_Mutation_p.A289T|ATP2C1_ENST00000505330.1_Missense_Mutation_p.A289T|ATP2C1_ENST00000359644.3_Missense_Mutation_p.A305T|ATP2C1_ENST00000507488.2_Missense_Mutation_p.A289T|ATP2C1_ENST00000328560.8_Missense_Mutation_p.A305T			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	305					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A305T(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCTGTAGCAGCAATTCCTGA	0.378									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(913-915)GCA>ACA		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						163.0	155.0	158.0					3																	130682828		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130682828G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.913G>A	3.37:g.130682828G>A	ENSP00000427461:p.Ala305Thr					ATP2C1_uc011blg.1_Missense_Mutation_p.A339T|ATP2C1_uc011blh.1_Missense_Mutation_p.A300T|ATP2C1_uc011bli.1_Missense_Mutation_p.A339T|ATP2C1_uc003enk.2_Missense_Mutation_p.A289T|ATP2C1_uc003enm.2_Missense_Mutation_p.A305T|ATP2C1_uc003enn.2_Missense_Mutation_p.A289T|ATP2C1_uc003eno.2_Missense_Mutation_p.A305T|ATP2C1_uc003enp.2_Missense_Mutation_p.A305T|ATP2C1_uc003enq.2_Missense_Mutation_p.A305T|ATP2C1_uc003enr.2_Missense_Mutation_p.A305T|ATP2C1_uc003ens.2_Missense_Mutation_p.A305T|ATP2C1_uc003ent.2_Missense_Mutation_p.A305T|ATP2C1_uc003enu.2_5'UTR	p.A305T	NM_014382	NP_055197	P98194	AT2C1_HUMAN			13	1135	+			305			Helical; Name=4; (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.913G>A	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	35	5.452030	0.96223	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421;ENST00000515854	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.85	5.85	0.93711	ATPase, P-type, ATPase-associated domain (1);	0.098052	0.64402	D	0.000001	D	0.96941	0.9001	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D;P;D	0.60575	0.982;0.986;0.988;0.982;0.988;0.95;0.986	P;P;P;P;P;P;P	0.61940	0.767;0.85;0.896;0.767;0.896;0.652;0.764	D	0.97249	0.9896	10	0.87932	D	0	.	20.1518	0.98089	0.0:0.0:1.0:0.0	.	339;300;339;305;339;305;305	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	T	289;250;289;339;300;305;305;289;289;305;305;305;305;304;44	ENSP00000423774:A289T;ENSP00000425320:A250T;ENSP00000421326:A289T;ENSP00000376914:A339T;ENSP00000432956:A300T;ENSP00000427461:A305T;ENSP00000424783:A305T;ENSP00000423330:A289T;ENSP00000422872:A289T;ENSP00000329664:A305T;ENSP00000395809:A305T;ENSP00000352665:A305T;ENSP00000402677:A305T;ENSP00000422890:A44T	ENSP00000329664:A305T	A	+	1	0	ATP2C1	132165518	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.769000	0.95229	0.491000	0.48974	GCA		0.378	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		16	64	0	0	0	0.00499	0	16	64				
PPP2R3A	5523	broad.mit.edu	37	3	135721504	135721504	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:135721504A>G	ENST00000264977.3	+	2	1781	c.1164A>G	c.(1162-1164)ctA>ctG	p.L388L	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	388					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.L388L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTAGAACTCTAAAAGCTGTCC	0.358																																							uc003eqv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(1162-1164)CTA>CTG		protein phosphatase 2, regulatory subunit B'',							55.0	58.0	57.0					3																	135721504		2203	4299	6502	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721504A>G	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1164A>G	3.37:g.135721504A>G						PPP2R3A_uc011blz.1_Intron	p.L388L	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	1729	+			388					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.1164A>G	CCDS3087.1																																																																																				0.358	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		19	31	0	0	0	0.014323	0	19	31				
DBR1	51163	broad.mit.edu	37	3	137881363	137881363	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:137881363G>A	ENST00000260803.4	-	8	1156	c.1003C>T	c.(1003-1005)Ctc>Ttc	p.L335F	DBR1_ENST00000505015.2_Missense_Mutation_p.L101F	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	335					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)	p.L335F(1)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GGAACCTTGAGATCATGATTC	0.353																																							uc003erv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)CTC>TTC		debranching enzyme homolog 1							94.0	101.0	98.0					3																	137881363		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137881363G>A	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.1003C>T	3.37:g.137881363G>A	ENSP00000260803:p.Leu335Phe					DBR1_uc003eru.2_Missense_Mutation_p.L284F|DBR1_uc003ert.2_Missense_Mutation_p.L103F	p.L335F	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1139	-			335					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.1003C>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235110	0.58886	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.55930	0.49	5.86	5.86	0.93980	Lariat debranching enzyme, C-terminal (1);	0.115808	0.64402	D	0.000011	T	0.65302	0.2678	L	0.52759	1.655	0.53005	D	0.999965	P;D	0.76494	0.653;0.999	P;D	0.71414	0.665;0.973	T	0.65179	-0.6231	10	0.56958	D	0.05	-11.4105	12.6101	0.56546	0.0:0.0:0.8345:0.1655	.	335;103	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	F	335;101	ENSP00000260803:L335F	ENSP00000260803:L335F	L	-	1	0	DBR1	139364053	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	6.380000	0.73158	2.771000	0.95319	0.563000	0.77884	CTC		0.353	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			21	93	0	0	0	0.010504	0	21	93				
AFAP1	60312	broad.mit.edu	37	4	7857263	7857263	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:7857263G>A	ENST00000360265.4	-	3	498	c.264C>T	c.(262-264)tcC>tcT	p.S88S	AFAP1_ENST00000420658.1_Silent_p.S88S|AFAP1_ENST00000358461.2_Silent_p.S88S|AFAP1_ENST00000382543.3_Silent_p.S88S			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	88	Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.S88S(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTTCTGGGAGGGAGGATGTTG	0.517																																							uc003gkg.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(262-264)TCC>TCT		actin filament associated protein 1							77.0	70.0	72.0					4																	7857263		2203	4300	6503	SO:0001819	synonymous_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7857263G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.264C>T	4.37:g.7857263G>A						AFAP1_uc011bwk.1_Silent_p.S88S	p.S88S	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			4	537	-			88			Pro-rich.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	c.264C>T	CCDS3397.1																																																																																				0.517	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		8	56	0	0	0	0.010729	0	8	56				
GABRB1	2560	broad.mit.edu	37	4	47408881	47408881	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:47408881G>C	ENST00000295454.3	+	8	1310	c.1018G>C	c.(1018-1020)Gga>Cga	p.G340R	GABRB1_ENST00000538619.1_Missense_Mutation_p.G270R	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	340					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.G340R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAGAAAAAGGGAGCTAGCAA	0.373																																							uc003gxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1018-1020)GGA>CGA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						127.0	125.0	126.0					4																	47408881		2203	4300	6503	SO:0001583	missense	2560				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.chr4:47408881G>C		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1018G>C	4.37:g.47408881G>C	ENSP00000295454:p.Gly340Arg					GABRB1_uc011bze.1_Missense_Mutation_p.G270R	p.G340R	NM_000812	NP_000803	P18505	GBRB1_HUMAN			8	1392	+			340			Cytoplasmic (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1018G>C	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149773	0.21288	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85171	-1.95;-1.95	4.74	4.74	0.60224	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.66346	0.2780	N	0.01874	-0.695	0.48087	D	0.999581	B;B	0.27286	0.0;0.174	B;B	0.32805	0.003;0.153	T	0.64457	-0.6403	9	0.14252	T	0.57	-9.8831	12.3457	0.55119	0.0836:0.0:0.9164:0.0	.	270;340	F5GXV5;P18505	.;GBRB1_HUMAN	R	340;270	ENSP00000295454:G340R;ENSP00000440330:G270R	ENSP00000295454:G340R	G	+	1	0	GABRB1	47103638	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.491000	0.66887	2.464000	0.83262	0.467000	0.42956	GGA		0.373	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			18	75	0	0	0	0.008871	0	18	75				
ATP10D	57205	broad.mit.edu	37	4	47565645	47565645	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:47565645A>T	ENST00000273859.3	+	15	2985	c.2716A>T	c.(2716-2718)Ata>Tta	p.I906L		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	906					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I906L(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCCTGAATCTATAGAAGCTCT	0.473																																							uc003gxk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2716-2718)ATA>TTA		ATPase, class V, type 10D							107.0	93.0	98.0					4																	47565645		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47565645A>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2716A>T	4.37:g.47565645A>T	ENSP00000273859:p.Ile906Leu					ATP10D_uc003gxl.1_Missense_Mutation_p.I154L	p.I906L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			15	2880	+			906			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.2716A>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.910344	0.92107	.	.	ENSG00000145246	ENST00000273859	D	0.91180	-2.8	5.21	5.21	0.72293	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.92446	0.7602	L	0.49699	1.58	0.80722	D	1	P	0.50369	0.934	P	0.59948	0.866	D	0.91470	0.5196	10	0.35671	T	0.21	-22.5688	14.4173	0.67158	1.0:0.0:0.0:0.0	.	906	Q9P241	AT10D_HUMAN	L	906	ENSP00000273859:I906L	ENSP00000273859:I906L	I	+	1	0	ATP10D	47260402	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	5.755000	0.68750	2.190000	0.69967	0.477000	0.44152	ATA		0.473	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		15	83	0	0	0	0.00245	0	15	83				
AASDH	132949	broad.mit.edu	37	4	57217624	57217624	+	Splice_Site	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:57217624C>T	ENST00000205214.6	-	10	1757		c.e10-1		AASDH_ENST00000434343.2_Splice_Site|AASDH_ENST00000602986.1_Splice_Site|AASDH_ENST00000451613.1_Splice_Site|AASDH_ENST00000502617.1_Splice_Site|AASDH_ENST00000513376.1_Splice_Site	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase						fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCAATTTTGCCTTAATATAAA	0.264																																							uc003hbn.2		NA																	1	Unknown(1)		lung(1)	ovary(4)	4						c.e10-1		aminoadipate-semialdehyde dehydrogenase							30.0	34.0	33.0					4																	57217624		2187	4254	6441	SO:0001630	splice_region_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57217624C>T	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1577-1G>A	4.37:g.57217624C>T						AASDH_uc010ihb.2_Splice_Site_p.G41_splice|AASDH_uc011caa.1_Splice_Site_p.G373_splice|AASDH_uc003hbo.2_Splice_Site_p.G426_splice|AASDH_uc011cab.1_Splice_Site_p.G41_splice|AASDH_uc010ihc.2_Splice_Site_p.G526_splice|AASDH_uc003hbp.2_Splice_Site_p.G526_splice	p.G526_splice	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			10	1730	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)						A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Splice_Site	SNP	ENST00000205214.6	37	c.1577_splice	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049393	0.75846	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.419	0.94713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AASDH	56912381	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.232000	0.65332	2.658000	0.90341	0.655000	0.94253	.		0.264	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	Intron	15	26	0	0	0	0.003163	0	15	26				
PDHA2	5161	broad.mit.edu	37	4	96762282	96762282	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:96762282C>A	ENST00000295266.4	+	1	1044	c.981C>A	c.(979-981)ctC>ctA	p.L327L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	327					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.L327L(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ACAGCAAGCTCGCCACTGTGG	0.428																																							uc003htr.3		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)	central_nervous_system(1)	1						c.(979-981)CTC>CTA		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						88.0	85.0	86.0					4																	96762282		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762282C>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.981C>A	4.37:g.96762282C>A							p.L327L	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	1044	+		Hepatocellular(203;0.114)	327					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.981C>A	CCDS3644.1																																																																																				0.428	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			35	56	1	0	4.0306e-16	0.01441	5.6819e-16	35	56				
ANK2	287	broad.mit.edu	37	4	114254323	114254323	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:114254323C>A	ENST00000357077.4	+	29	3391	c.3338C>A	c.(3337-3339)aCt>aAt	p.T1113N	ANK2_ENST00000394537.3_Missense_Mutation_p.T1113N|ANK2_ENST00000506722.1_Missense_Mutation_p.T1104N|ANK2_ENST00000509550.1_Missense_Mutation_p.T289N|ANK2_ENST00000264366.6_Missense_Mutation_p.T1080N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1113	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T1113N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGACTACACTGAAGATGAA	0.433																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3337-3339)ACT>AAT		ankyrin 2 isoform 1							155.0	148.0	150.0					4																	114254323		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114254323C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3338C>A	4.37:g.114254323C>A	ENSP00000349588:p.Thr1113Asn					ANK2_uc003ibd.3_Missense_Mutation_p.T1104N|ANK2_uc003ibf.3_Missense_Mutation_p.T1113N|ANK2_uc011cgc.1_Missense_Mutation_p.T289N|ANK2_uc003ibg.3_Missense_Mutation_p.T108N|ANK2_uc003ibc.2_Missense_Mutation_p.T1089N|ANK2_uc011cgb.1_Missense_Mutation_p.T1128N	p.T1113N	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	29	3438	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1080			Interaction with SPTBN1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3338C>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.536|2.536	-0.307408|-0.307408	0.05458|0.05458	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T;T	.|0.76060	.|-0.11;-0.04;-0.22;-0.18;-0.21;-0.34;-0.34;-0.99	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.000000	.|0.52532	.|D	.|0.000064	T|T	0.81650|0.81650	0.4867|0.4867	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;D;P;B;P;P;P	.|0.89917	.|0.818;1.0;0.605;0.215;0.845;0.708;0.908	.|B;D;B;B;P;B;D	.|0.85130	.|0.316;0.997;0.194;0.219;0.755;0.425;0.922	T|T	0.79533|0.79533	-0.1764|-0.1764	5|10	.|0.33940	.|T	.|0.23	.|.	18.9343|18.9343	0.92579|0.92579	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|289;1080;125;1113;1113;1104;1104	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.|.;ANK2_HUMAN;.;.;.;.;.	Q|N	125|1092;1026;1104;159;1128;1113;1113;1080;1104;289	.|ENSP00000423799:T1092N;ENSP00000421011:T1026N;ENSP00000421067:T1104N;ENSP00000424722:T1128N;ENSP00000378044:T1113N;ENSP00000349588:T1113N;ENSP00000264366:T1080N;ENSP00000426944:T289N	.|ENSP00000264366:T1080N	H|T	+|+	3|2	2|0	ANK2|ANK2	114473772|114473772	1.000000|1.000000	0.71417|0.71417	0.853000|0.853000	0.33588|0.33588	0.198000|0.198000	0.23893|0.23893	5.983000|5.983000	0.70540|0.70540	2.536000|2.536000	0.85505|0.85505	0.655000|0.655000	0.94253|0.94253	CAC|ACT		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		51	50	1	0	1.15193e-12	0.01441	1.54233e-12	51	50				
MMAA	166785	broad.mit.edu	37	4	146560391	146560391	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:146560391C>G	ENST00000281317.5	+	2	1310	c.100C>G	c.(100-102)Ctc>Gtc	p.L34V	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	34					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.L34V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTACTCATCTCGGATCAGG	0.438																																							uc003ikh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(100-102)CTC>GTC		methylmalonic aciduria type A precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						151.0	146.0	148.0					4																	146560391		2203	4300	6503	SO:0001583	missense	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146560391C>G	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.100C>G	4.37:g.146560391C>G	ENSP00000281317:p.Leu34Val					MMAA_uc003ikg.2_Missense_Mutation_p.L34V|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA	p.L34V	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN			2	185	+	all_hematologic(180;0.151)		34					B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	c.100C>G	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	c	11.06	1.527214	0.27299	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.91521	-2.86	5.05	3.18	0.36537	.	0.734863	0.12705	N	0.446003	D	0.83207	0.5204	L	0.44542	1.39	0.19300	N	0.999976	B;B	0.17038	0.02;0.008	B;B	0.14578	0.011;0.011	T	0.65651	-0.6116	10	0.15499	T	0.54	0.0512	5.1385	0.14947	0.2072:0.6892:0.0:0.1036	.	34;34	Q8IVH4;D6RIS5	MMAA_HUMAN;.	V	34	ENSP00000281317:L34V	ENSP00000281317:L34V	L	+	1	0	MMAA	146779841	0.002000	0.14202	0.011000	0.14972	0.022000	0.10575	0.963000	0.29293	2.494000	0.84150	0.655000	0.94253	CTC		0.438	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			5	194	0	0	0	0.000602	0	5	194				
RAPGEF2	9693	broad.mit.edu	37	4	160275067	160275067	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:160275067G>T	ENST00000264431.4	+	22	4456	c.4037G>T	c.(4036-4038)cGg>cTg	p.R1346L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1346					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.R1334L(1)		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)		ACAATAAAGCGGAGGGGTGGA	0.537																																							uc003iqg.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(4036-4038)CGG>CTG		Rap guanine nucleotide exchange factor 2							47.0	48.0	48.0					4																	160275067		1941	4152	6093	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.chr4:160275067G>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.4037G>T	4.37:g.160275067G>T	ENSP00000264431:p.Arg1346Leu						p.R1346L	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	22	4347	+	all_hematologic(180;0.24)		1346					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4037G>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995087	0.93167	.	.	ENSG00000109756	ENST00000264431	T	0.58797	0.31	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73442	0.3587	L	0.58810	1.83	0.80722	D	1	D	0.60575	0.988	P	0.62382	0.901	T	0.72931	-0.4142	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1346	Q9Y4G8	RPGF2_HUMAN	L	1346	ENSP00000264431:R1346L	ENSP00000264431:R1346L	R	+	2	0	RAPGEF2	160494517	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	9.480000	0.97931	2.941000	0.99782	0.655000	0.94253	CGG		0.537	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		34	30	1	0	2.47316e-13	0.003271	3.32525e-13	34	30				
MARCH6	10299	broad.mit.edu	37	5	10411648	10411648	+	Splice_Site	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:10411648G>A	ENST00000274140.5	+	19	2027	c.1895G>A	c.(1894-1896)aGg>aAg	p.R632K	MARCH6_ENST00000503788.1_Splice_Site_p.R527K|MARCH6_ENST00000510792.1_Splice_Site_p.R330K|MARCH6_ENST00000449913.2_Splice_Site_p.R584K	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	632					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R632K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTCCACTCAGGGTAGGTGCT	0.463																																							uc003jet.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1894-1896)AGG>AAG		membrane-associated ring finger (C3HC4) 6							50.0	49.0	49.0					5																	10411648		2203	4300	6503	SO:0001630	splice_region_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10411648G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1896+1G>A	5.37:g.10411648G>A						MARCH6_uc011cmu.1_Missense_Mutation_p.R584K|MARCH6_uc003jeu.1_Missense_Mutation_p.R330K|MARCH6_uc011cmv.1_Missense_Mutation_p.R527K	p.R632K	NM_005885	NP_005876	O60337	MARH6_HUMAN			19	2078	+			632			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1895G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285166	0.80803	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	L	0.48260	1.515	0.80722	D	1	B;B;B;B	0.26120	0.142;0.04;0.002;0.032	B;B;B;B	0.33392	0.163;0.027;0.003;0.019	T	0.13926	-1.0491	10	0.51188	T	0.08	-18.6272	19.2764	0.94032	0.0:0.0:1.0:0.0	.	527;584;212;632	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	K	584;527;632;330	ENSP00000414643:R584K;ENSP00000425930:R527K;ENSP00000274140:R632K;ENSP00000424512:R330K	ENSP00000274140:R632K	R	+	2	0	MARCH6	10464648	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.524000	0.81866	2.628000	0.89032	0.563000	0.77884	AGG		0.463	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	Missense_Mutation	10	38	0	0	0	0.001855	0	10	38				
CTNND2	1501	broad.mit.edu	37	5	11159798	11159798	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:11159798G>T	ENST00000304623.8	-	12	2238	c.2049C>A	c.(2047-2049)acC>acA	p.T683T	CTNND2_ENST00000503622.1_Silent_p.T346T|CTNND2_ENST00000511377.1_Silent_p.T592T|CTNND2_ENST00000359640.2_Silent_p.T683T|CTNND2_ENST00000458100.2_Silent_p.T250T|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	683					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.T683T(1)		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						TCACCGCGTTGGTCAGTACTG	0.507																																							uc003jfa.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2047-2049)ACC>ACA		catenin (cadherin-associated protein), delta 2							192.0	171.0	178.0					5																	11159798		2203	4300	6503	SO:0001819	synonymous_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.chr5:11159798G>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.2049C>A	5.37:g.11159798G>T						CTNND2_uc010itt.2_Silent_p.T592T|CTNND2_uc011cmy.1_Silent_p.T346T|CTNND2_uc011cmz.1_Silent_p.T250T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.T250T	p.T683T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			12	2194	-			683			ARM 5.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2049C>A	CCDS3881.1																																																																																				0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		23	114	1	0	7.87624e-14	0.00278	1.07709e-13	23	114				
SKP2	6502	broad.mit.edu	37	5	36183971	36183971	+	3'UTR	SNP	G	G	T	rs199517101		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:36183971G>T	ENST00000274255.6	+	0	3309				SKP2_ENST00000274254.5_Missense_Mutation_p.R364L	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.R364L(1)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTAGGATCCGGTTGGACTCT	0.368																																							uc003jkd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|breast(1)	4						c.(1090-1092)CGG>CTG		S-phase kinase-associated protein 2 isoform 2							96.0	94.0	94.0					5																	36183971		2203	4300	6503	SO:0001624	3_prime_UTR_variant	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36183971G>T	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.*1838G>T	5.37:g.36183971G>T							p.R364L	NM_032637	NP_116026	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1267	+	all_lung(31;5.63e-05)		Error:Variant_position_missing_in_Q13309_after_alignment					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.1091G>T	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	5.203	0.222995	0.09863	.	.	ENSG00000145604	ENST00000274254	T	0.10288	2.89	4.5	-6.26	0.02033	.	2.318800	0.01228	N	0.008298	T	0.06872	0.0175	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.28776	-1.0033	9	0.27785	T	0.31	-0.196	7.6237	0.28200	0.49:0.1121:0.3979:0.0	.	364	Q13309-2	.	L	364	ENSP00000274254:R364L	ENSP00000274254:R364L	R	+	2	0	SKP2	36219728	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.138000	0.03216	-1.369000	0.02147	-1.334000	0.01262	CGG		0.368	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		18	97	1	0	4.96729e-08	0.008871	6.02096e-08	18	97				
PPWD1	23398	broad.mit.edu	37	5	64875260	64875260	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:64875260G>A	ENST00000261308.5	+	7	1242	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	PPWD1_ENST00000538977.1_Silent_p.R234R|PPWD1_ENST00000535264.1_Silent_p.R360R	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	390					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R390R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GGTGTGTGCGGATTTTAGGCA	0.348																																							uc003jtv.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1168-1170)CGG>CGA		peptidylprolyl isomerase domain and WD repeat							96.0	98.0	98.0					5																	64875260		2203	4300	6503	SO:0001819	synonymous_variant	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64875260G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1170G>A	5.37:g.64875260G>A						PPWD1_uc011cqv.1_Silent_p.R360R|PPWD1_uc011cqw.1_Silent_p.R234R	p.R390R	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	7	1177	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	390					B4DWR9|Q15002|Q7KZ89	Silent	SNP	ENST00000261308.5	37	c.1170G>A	CCDS3985.1																																																																																				0.348	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		5	41	0	0	0	0.001984	0	5	41				
PCDHA10	56139	broad.mit.edu	37	5	140235739	140235739	+	Missense_Mutation	SNP	G	G	A	rs147800828	byFrequency	TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140235739G>A	ENST00000307360.5	+	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E36K|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E36K(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTCTACGAGGAGGCCAG	0.662																																							uc003lhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(106-108)GAG>AAG		protocadherin alpha 10 isoform 1 precursor							47.0	56.0	53.0					5																	140235739		2196	4269	6465	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140235739G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.106G>A	5.37:g.140235739G>A	ENSP00000304234:p.Glu36Lys					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_Missense_Mutation_p.E36K|PCDHA10_uc011dad.1_Missense_Mutation_p.E36K	p.E36K	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	106	+			36			Extracellular (Potential).|Cadherin 1.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.106G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050266	0.55218	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.60299	0.2;0.2	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	D	0.86732	0.6003	H	0.99600	4.65	0.35312	D	0.784022	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94950	0.8099	9	0.87932	D	0	.	17.329	0.87258	0.0:0.0:1.0:0.0	.	36;36;36	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	K	36	ENSP00000421030:E36K;ENSP00000304234:E36K	ENSP00000304234:E36K	E	+	1	0	PCDHA10	140215923	1.000000	0.71417	0.980000	0.43619	0.145000	0.21501	9.597000	0.98273	2.391000	0.81399	0.556000	0.70494	GAG		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		25	74	0	0	0	0.009535	0	25	74				
PCDHB7	56129	broad.mit.edu	37	5	140554630	140554630	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140554630C>G	ENST00000231137.3	+	1	2388	c.2214C>G	c.(2212-2214)agC>agG	p.S738R	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	738					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S738R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACTTGAGCGGCACCGGGA	0.617																																							uc003lit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2212-2214)AGC>AGG		protocadherin beta 7 precursor							83.0	130.0	114.0					5																	140554630		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554630C>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2214C>G	5.37:g.140554630C>G	ENSP00000231137:p.Ser738Arg					PCDHB8_uc011dai.1_5'Flank	p.S738R	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2388	+			738			Cytoplasmic (Potential).		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2214C>G	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492565	0.26774	.	.	ENSG00000113212	ENST00000231137	T	0.50548	0.74	4.29	-0.838	0.10762	.	.	.	.	.	T	0.43964	0.1271	M	0.71920	2.185	0.09310	N	1	B	0.28233	0.204	B	0.31686	0.134	T	0.44436	-0.9328	9	0.51188	T	0.08	.	5.9853	0.19430	0.0:0.4595:0.129:0.4115	.	738	Q9Y5E2	PCDB7_HUMAN	R	738	ENSP00000231137:S738R	ENSP00000231137:S738R	S	+	3	2	PCDHB7	140534814	0.000000	0.05858	0.074000	0.20217	0.008000	0.06430	-0.588000	0.05774	-0.163000	0.10946	0.449000	0.29647	AGC		0.617	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		31	145	0	0	0	0.010818	0	31	145				
PCDHB16	57717	broad.mit.edu	37	5	140562314	140562314	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140562314C>A	ENST00000361016.2	+	1	1335	c.180C>A	c.(178-180)tcC>tcA	p.S60S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	60	Cadherin 1. {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.S60S(1)		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)			CAGAGATGTCCACCCGCAAGG	0.517																																							uc003liv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(178-180)TCC>TCA		protocadherin beta 16 precursor							81.0	90.0	87.0					5																	140562314		2203	4300	6503	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562314C>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.180C>A	5.37:g.140562314C>A						PCDHB16_uc010jfw.1_Intron	p.S60S	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1335	+			60			Extracellular (Potential).|Cadherin 1.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.180C>A	CCDS4251.1																																																																																				0.517	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		9	126	1	0	2.17888e-05	0.006214	2.46375e-05	9	126				
PCDHB10	56126	broad.mit.edu	37	5	140573632	140573632	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140573632C>A	ENST00000239446.4	+	1	1691	c.1507C>A	c.(1507-1509)Ctg>Atg	p.L503M		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	503	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.L503M(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGCCTCCCTGGTCTCCAT	0.682																																							uc003lix.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1507-1509)CTG>ATG		protocadherin beta 10 precursor							96.0	111.0	106.0					5																	140573632		2203	4298	6501	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573632C>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1507C>A	5.37:g.140573632C>A	ENSP00000239446:p.Leu503Met						p.L503M	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1681	+			503			Cadherin 5.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1507C>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	13.81	2.348432	0.41599	.	.	ENSG00000120324	ENST00000239446	T	0.51071	0.72	3.53	2.54	0.30619	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.49525	0.1562	L	0.28014	0.82	0.26829	N	0.968627	D	0.89917	1.0	D	0.97110	1.0	T	0.32214	-0.9915	9	0.87932	D	0	.	3.6452	0.08182	0.0:0.4272:0.0:0.5728	.	503	Q9UN67	PCDBA_HUMAN	M	503	ENSP00000239446:L503M	ENSP00000239446:L503M	L	+	1	2	PCDHB10	140553816	0.000000	0.05858	0.024000	0.17045	0.668000	0.39293	0.131000	0.15870	0.723000	0.32274	0.549000	0.68633	CTG		0.682	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		8	163	1	0	3.09899e-07	0.004482	3.65932e-07	8	163				
PCDHGA2	56113	broad.mit.edu	37	5	140720308	140720308	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140720308G>T	ENST00000394576.2	+	1	1770	c.1770G>T	c.(1768-1770)aaG>aaT	p.K590N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	590	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)	p.K590N(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGACCAAGGTGGTGGCGG	0.672																																							uc003ljk.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1768-1770)AAG>AAT		protocadherin gamma subfamily A, 2 isoform 1							67.0	77.0	74.0					5																	140720308		2203	4296	6499	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720308G>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1770G>T	5.37:g.140720308G>T	ENSP00000378077:p.Lys590Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.K590N	p.K590N	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1955	+			590			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1770G>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.16	1.558148	0.27827	.	.	ENSG00000081853	ENST00000394576	T	0.51325	0.71	4.82	0.835	0.18886	Cadherin (3);Cadherin-like (1);	0.000000	0.43110	U	0.000620	T	0.68238	0.2979	M	0.90922	3.16	0.25142	N	0.990499	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.59032	-0.7530	10	0.87932	D	0	.	5.6518	0.17620	0.3986:0.1292:0.4721:0.0	.	590;590	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	N	590	ENSP00000378077:K590N	ENSP00000378077:K590N	K	+	3	2	PCDHGA2	140700492	0.944000	0.32072	0.979000	0.43373	0.054000	0.15201	0.019000	0.13444	-0.056000	0.13221	-0.350000	0.07774	AAG		0.672	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		45	95	1	0	7.77092e-38	0.01441	1.27523e-37	45	95				
ARHGEF37	389337	broad.mit.edu	37	5	149008426	149008426	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:149008426G>A	ENST00000333677.6	+	12	1878	c.1715G>A	c.(1714-1716)aGt>aAt	p.S572N		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	572						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S572N(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GTGGTCCCCAGTGCAGAGGAG	0.602																																							uc003lra.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1714-1716)AGT>AAT		hypothetical protein LOC389337							42.0	47.0	45.0					5																	149008426		2011	4172	6183	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149008426G>A	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.1715G>A	5.37:g.149008426G>A	ENSP00000328083:p.Ser572Asn						p.S572N	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			12	1779	+			572					Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1715G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193203	0.58017	.	.	ENSG00000183111	ENST00000333677	T	0.55760	0.5	5.47	1.95	0.26073	.	0.737527	0.14374	N	0.323596	T	0.32102	0.0818	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.10730	-1.0617	10	0.25751	T	0.34	0.055	4.829	0.13430	0.1959:0.2555:0.5485:0.0	.	572	A1IGU5	ARH37_HUMAN	N	572	ENSP00000328083:S572N	ENSP00000328083:S572N	S	+	2	0	ARHGEF37	148988619	0.000000	0.05858	0.012000	0.15200	0.920000	0.55202	0.219000	0.17641	1.309000	0.44985	0.491000	0.48974	AGT		0.602	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		7	23	0	0	0	0.001984	0	7	23				
GABRA6	2559	broad.mit.edu	37	5	161128675	161128675	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:161128675T>G	ENST00000274545.5	+	9	1691	c.1258T>G	c.(1258-1260)Tat>Gat	p.Y420D	GABRA6_ENST00000523217.1_Missense_Mutation_p.Y410D			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	420					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y420D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AATAGACCAGTATTCTCGAAT	0.468										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1258-1260)TAT>GAT		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						132.0	119.0	124.0					5																	161128675		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128675T>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1258T>G	5.37:g.161128675T>G	ENSP00000274545:p.Tyr420Asp	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.Y191D	p.Y420D	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1596	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	420			Helical; (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1258T>G	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365889	0.82463	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.84589	-1.87;-1.87	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.299795	0.38111	N	0.001819	D	0.92704	0.7681	M	0.87971	2.92	0.58432	D	0.999999	D	0.71674	0.998	D	0.67725	0.953	D	0.94024	0.7295	10	0.87932	D	0	.	15.2925	0.73875	0.0:0.0:0.0:1.0	.	420	Q16445	GBRA6_HUMAN	D	420;410	ENSP00000274545:Y420D;ENSP00000430527:Y410D	ENSP00000274545:Y420D	Y	+	1	0	GABRA6	161061253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.064000	0.71169	2.079000	0.62486	0.533000	0.62120	TAT		0.468	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			40	44	0	0	0	0.00874	0	40	44				
SH3PXD2B	285590	broad.mit.edu	37	5	171765673	171765673	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:171765673C>T	ENST00000311601.5	-	13	2606	c.2436G>A	c.(2434-2436)ttG>ttA	p.L812L	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	812					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.L812L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGGCCCCCCAAAGAGTTGG	0.612																																							uc003mbr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(2434-2436)TTG>TTA		SH3 and PX domains 2B							37.0	37.0	37.0					5																	171765673		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171765673C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2436G>A	5.37:g.171765673C>T							p.L812L	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2607	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	812					B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.2436G>A	CCDS34291.1																																																																																				0.612	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		4	27	0	0	0	0.009096	0	4	27				
CNOT6	57472	broad.mit.edu	37	5	179996154	179996154	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:179996154G>T	ENST00000393356.1	+	12	1496	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	CNOT6_ENST00000261951.4_Missense_Mutation_p.A358S			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	358	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.A358S(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TATTCTTGTGGCTAACGCCCA	0.413																																							uc003mlx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1072-1074)GCT>TCT		CCR4-NOT transcription complex, subunit 6							79.0	77.0	78.0					5																	179996154		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179996154G>T	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1072G>T	5.37:g.179996154G>T	ENSP00000377024:p.Ala358Ser					CNOT6_uc010jld.2_Missense_Mutation_p.A358S|CNOT6_uc010jle.2_Missense_Mutation_p.A353S	p.A358S	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	10	1421	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	358					A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.1072G>T	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005797	0.54254	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.31769	1.48;1.48	6.04	6.04	0.98038	Endonuclease/exonuclease/phosphatase (2);	0.048311	0.85682	D	0.000000	T	0.36166	0.0957	L	0.59436	1.845	0.80722	D	1	P	0.37370	0.592	B	0.37091	0.241	T	0.03761	-1.1006	9	.	.	.	-10.7384	20.5948	0.99439	0.0:0.0:1.0:0.0	.	358	Q9ULM6	CNOT6_HUMAN	S	358	ENSP00000261951:A358S;ENSP00000377024:A358S	.	A	+	1	0	CNOT6	179928760	1.000000	0.71417	0.996000	0.52242	0.023000	0.10783	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GCT		0.413	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		14	80	1	0	2.32078e-09	0.003163	2.88969e-09	14	80				
CDYL	9425	broad.mit.edu	37	6	4892352	4892352	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:4892352G>T	ENST00000328908.5	+	4	723	c.592G>T	c.(592-594)Gtg>Ttg	p.V198L	CDYL_ENST00000397588.3_Missense_Mutation_p.V144L|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_Missense_Mutation_p.V12L|CDYL_ENST00000343762.5_Missense_Mutation_p.V12L			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	198	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.V198L(1)		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)		CAAGATCCTCGTGCCTAAAAG	0.567																																							uc003mwi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GTG>TTG		chromodomain protein, Y chromosome-like isoform							77.0	77.0	77.0					6																	4892352		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892352G>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.592G>T	6.37:g.4892352G>T	ENSP00000330512:p.Val198Leu					CDYL_uc003mwj.2_Missense_Mutation_p.V144L|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.V12L|CDYL_uc011dhy.1_Missense_Mutation_p.V12L	p.V198L	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	723	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	198					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.592G>T		.	.	.	.	.	.	.	.	.	.	G	25.0	4.587547	0.86851	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.59502	0.8;0.43;0.26;0.26	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.59436	1.845	0.80722	D	1	B;P	0.39282	0.293;0.666	B;B	0.39465	0.3;0.247	T	0.46803	-0.9165	9	.	.	.	.	19.0316	0.92959	0.0:0.0:1.0:0.0	.	144;198	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	L	198;144;12;12	ENSP00000330512:V198L;ENSP00000380718:V144L;ENSP00000394076:V12L;ENSP00000340908:V12L	.	V	+	1	0	CDYL	4837351	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.417000	0.97391	2.731000	0.93534	0.650000	0.86243	GTG		0.567	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		40	78	1	0	1.07121e-22	0.006999	1.59436e-22	40	78				
HIVEP1	3096	broad.mit.edu	37	6	12125456	12125456	+	Missense_Mutation	SNP	G	G	T	rs374375253		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:12125456G>T	ENST00000379388.2	+	4	5760	c.5428G>T	c.(5428-5430)Ggt>Tgt	p.G1810C	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1810					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCCCTGGACGGTGTGATGTT	0.393																																							uc003nac.2		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(5428-5430)GGT>TGT		human immunodeficiency virus type I enhancer							182.0	168.0	172.0					6																	12125456		1854	4088	5942	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12125456G>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5428G>T	6.37:g.12125456G>T	ENSP00000368698:p.Gly1810Cys					HIVEP1_uc011diq.1_RNA	p.G1810C	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	5607	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1810					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.5428G>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340440	0.41498	.	.	ENSG00000095951	ENST00000379388	T	0.12255	2.7	5.86	4.07	0.47477	.	0.443783	0.16813	N	0.198468	T	0.13841	0.0335	M	0.64567	1.98	0.80722	D	1	D	0.71674	0.998	P	0.55161	0.77	T	0.02411	-1.1163	9	.	.	.	-15.4671	7.7614	0.28955	0.3337:0.0:0.6663:0.0	.	1810	P15822	ZEP1_HUMAN	C	1810	ENSP00000368698:G1810C	.	G	+	1	0	HIVEP1	12233442	1.000000	0.71417	0.133000	0.22050	0.154000	0.21943	2.295000	0.43576	1.484000	0.48361	0.655000	0.94253	GGT		0.393	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		134	260	1	0	1.18489e-69	0.01441	2.02762e-69	134	260				
TJAP1	93643	broad.mit.edu	37	6	43471199	43471199	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:43471199A>G	ENST00000372445.5	+	9	824	c.448A>G	c.(448-450)Aag>Gag	p.K150E	TJAP1_ENST00000259751.1_Missense_Mutation_p.K140E|TJAP1_ENST00000438588.2_Missense_Mutation_p.K150E|TJAP1_ENST00000372444.2_Missense_Mutation_p.K140E|TJAP1_ENST00000372449.1_Missense_Mutation_p.K150E|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.K140E|TJAP1_ENST00000372452.1_Missense_Mutation_p.K140E	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	150					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.K140E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTGACCAACAAGCTGCTGGA	0.527																																							uc003ovd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(448-450)AAG>GAG		tight junction associated protein 1 isoform a							97.0	85.0	89.0					6																	43471199		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43471199A>G	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.448A>G	6.37:g.43471199A>G	ENSP00000361522:p.Lys150Glu					TJAP1_uc003ovf.2_Missense_Mutation_p.K140E|TJAP1_uc003ove.2_Missense_Mutation_p.K140E|TJAP1_uc003ovc.2_Missense_Mutation_p.K140E|TJAP1_uc010jyp.2_Missense_Mutation_p.K109E|TJAP1_uc011dvh.1_Missense_Mutation_p.K140E|TJAP1_uc003ovg.2_Missense_Mutation_p.K16E|TJAP1_uc010jyq.2_3'UTR|TJAP1_uc011dvi.1_Missense_Mutation_p.K150E|TJAP1_uc011dvj.1_5'UTR|TJAP1_uc003ovi.2_Missense_Mutation_p.K16E	p.K150E	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		9	824	+	all_lung(25;0.00536)		150			Potential.		Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.448A>G	CCDS55004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.111551|5.111551	0.94339|0.94339	.|.	.|.	ENSG00000137221|ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588|ENST00000454762	T;T;T;T;T;T;T;T|.	0.73897|.	0.99;-0.79;0.99;-0.79;0.99;0.99;-0.79;-0.79|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66877|0.66877	0.2834|0.2834	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.85130|.	0.991;0.997|.	T|T	0.68032|0.68032	-0.5516|-0.5516	10|5	0.44086|.	T|.	0.13|.	0.0328|0.0328	15.6931|15.6931	0.77469|0.77469	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	150;140|.	Q5JTD0;Q5JTD0-2|.	TJAP1_HUMAN;.|.	E|R	140;150;140;150;140;140;140;150;150|97	ENSP00000361521:K140E;ENSP00000361522:K150E;ENSP00000407080:K140E;ENSP00000390981:K150E;ENSP00000259751:K140E;ENSP00000361530:K140E;ENSP00000361527:K150E;ENSP00000408769:K150E|.	ENSP00000259751:K140E|.	K|Q	+|+	1|2	0|0	TJAP1|TJAP1	43579177|43579177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.982000|8.982000	0.93471|0.93471	2.119000|2.119000	0.64992|0.64992	0.379000|0.379000	0.24179|0.24179	AAG|CAA		0.527	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		4	83	0	0	0	0.000602	0	4	83				
GPR115	221393	broad.mit.edu	37	6	47682229	47682229	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:47682229G>T	ENST00000283303.2	+	6	1506	c.1248G>T	c.(1246-1248)ttG>ttT	p.L416F	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.L473F|GPR115_ENST00000327753.3_Missense_Mutation_p.L416F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	416					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.L416F(1)		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						TCCTAAGCTTGGTTCTTTGCC	0.488																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1246-1248)TTG>TTT		G-protein coupled receptor 115 precursor							164.0	136.0	145.0					6																	47682229		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682229G>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.1248G>T	6.37:g.47682229G>T	ENSP00000283303:p.Leu416Phe					GPR115_uc003oyz.1_Missense_Mutation_p.L473F|GPR115_uc003ozb.1_Missense_Mutation_p.L414F	p.L416F	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1506	+			416			Helical; Name=1; (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1248G>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138452	0.56936	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.70631	-0.5;-0.5;-0.5	5.45	2.56	0.30785	GPCR, family 2-like (1);	0.120733	0.36338	N	0.002652	T	0.81997	0.4941	M	0.93550	3.43	0.38961	D	0.958555	D	0.89917	1.0	D	0.97110	1.0	D	0.83745	0.0206	10	0.87932	D	0	-16.7066	8.3055	0.32041	0.1408:0.0:0.7329:0.1263	.	416	Q8IZF3	GP115_HUMAN	F	473;416;416	ENSP00000360264:L473F;ENSP00000328319:L416F;ENSP00000283303:L416F	ENSP00000283303:L416F	L	+	3	2	GPR115	47790188	1.000000	0.71417	0.994000	0.49952	0.852000	0.48524	2.853000	0.48317	0.796000	0.33947	-0.126000	0.14955	TTG		0.488	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		49	122	1	0	1.56989e-16	0.01441	2.23274e-16	49	122				
EYS	346007	broad.mit.edu	37	6	66063453	66063453	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:66063453G>T	ENST00000370621.3	-	9	1883	c.1357C>A	c.(1357-1359)Cta>Ata	p.L453I	EYS_ENST00000370618.3_Missense_Mutation_p.L453I|EYS_ENST00000393380.2_Missense_Mutation_p.L453I|EYS_ENST00000503581.1_Missense_Mutation_p.L453I|EYS_ENST00000342421.5_Missense_Mutation_p.L453I|EYS_ENST00000370616.2_Missense_Mutation_p.L453I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	453					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L453I(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGATGAATTAGGTAAACATTC	0.373																																							uc011dxu.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(1357-1359)CTA>ATA		eyes shut homolog isoform 1							115.0	104.0	108.0					6																	66063453		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063453G>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1357C>A	6.37:g.66063453G>T	ENSP00000359655:p.Leu453Ile					EYS_uc003peq.2_Missense_Mutation_p.L453I|EYS_uc003per.1_Missense_Mutation_p.L453I	p.L453I	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			9	1895	-			453					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1357C>A		.	.	.	.	.	.	.	.	.	.	g	8.315	0.822922	0.16678	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	4.14	-5.55	0.02536	.	.	.	.	.	T	0.05868	0.0153	N	0.19112	0.55	0.09310	N	1	B;P;P	0.48503	0.241;0.911;0.856	B;B;B	0.39185	0.216;0.293;0.229	T	0.21177	-1.0253	9	0.19590	T	0.45	.	6.5328	0.22336	0.4852:0.1401:0.3747:0.0	.	453;453;453	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	453	ENSP00000424243:L453I;ENSP00000359655:L453I;ENSP00000359650:L453I;ENSP00000377042:L453I;ENSP00000341818:L453I;ENSP00000359652:L453I	ENSP00000341818:L453I	L	-	1	2	EYS	66120174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.051000	0.14141	-0.575000	0.05982	-0.964000	0.02622	CTA		0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		14	57	1	0	1.05317e-09	0.00245	1.31646e-09	14	57				
PRSS35	167681	broad.mit.edu	37	6	84233922	84233922	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:84233922C>A	ENST00000369700.3	+	2	939	c.762C>A	c.(760-762)gtC>gtA	p.V254V	PRSS35_ENST00000536636.1_Silent_p.V254V	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	254	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.V254V(2)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACCCGGGTCAAGAATACCC	0.562																																							uc003pjz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(760-762)GTC>GTA		protease, serine, 35 precursor							50.0	56.0	54.0					6																	84233922		2203	4300	6503	SO:0001819	synonymous_variant	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233922C>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.762C>A	6.37:g.84233922C>A						PRSS35_uc010kbm.2_Silent_p.V254V	p.V254V	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	925	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	254			Peptidase S1.		A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	c.762C>A	CCDS4999.1																																																																																				0.562	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		38	46	1	0	4.62619e-21	0.004289	6.75973e-21	38	46				
HS3ST5	222537	broad.mit.edu	37	6	114379241	114379241	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:114379241C>A	ENST00000312719.5	-	5	1409	c.221G>T	c.(220-222)gGc>gTc	p.G74V	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.G74V|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	74					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.G74V(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGAAGCGTTGCCCTTCCGGAA	0.607																																							uc003pwg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(220-222)GGC>GTC		heparan sulfate (glucosamine)							56.0	51.0	53.0					6																	114379241		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114379241C>A	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.221G>T	6.37:g.114379241C>A	ENSP00000427888:p.Gly74Val					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.G74V	p.G74V	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	253	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	74			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.221G>T	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914170	0.33815	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.44083	0.93;0.93	5.62	4.71	0.59529	.	0.221856	0.47093	D	0.000245	T	0.37758	0.1015	L	0.40543	1.245	0.80722	D	1	D	0.57899	0.981	P	0.56127	0.792	T	0.34403	-0.9830	10	0.62326	D	0.03	.	13.8733	0.63634	0.0:0.9224:0.0:0.0776	.	74	Q8IZT8	HS3S5_HUMAN	V	74	ENSP00000427888:G74V;ENSP00000440332:G74V	ENSP00000427888:G74V	G	-	2	0	HS3ST5	114485934	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.495000	0.60353	1.416000	0.47057	-0.345000	0.07892	GGC		0.607	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		14	57	1	0	9.31168e-06	0.001855	1.0604e-05	14	57				
HEY2	23493	broad.mit.edu	37	6	126080924	126080924	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:126080924G>T	ENST00000368364.3	+	5	1187	c.990G>T	c.(988-990)tgG>tgT	p.W330C	HEY2_ENST00000368365.1_Missense_Mutation_p.W284C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	330					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.W330C(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACCGACCCTGGGGGACAGAAG	0.493																																							uc003qad.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(988-990)TGG>TGT		hairy/enhancer-of-split related with YRPW motif							38.0	45.0	43.0					6																	126080924		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080924G>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.990G>T	6.37:g.126080924G>T	ENSP00000357348:p.Trp330Cys					HEY2_uc011ebr.1_Missense_Mutation_p.W284C	p.W330C	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1181	+			330			YRPW motif.			Missense_Mutation	SNP	ENST00000368364.3	37	c.990G>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596452	0.66332	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.77620	-0.99;-1.11	5.25	5.25	0.73442	.	0.318218	0.32161	N	0.006495	D	0.82990	0.5157	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.84875	0.0827	10	0.87932	D	0	-15.4853	18.8462	0.92208	0.0:0.0:1.0:0.0	.	330	Q9UBP5	HEY2_HUMAN	C	284;330	ENSP00000357349:W284C;ENSP00000357348:W330C	ENSP00000357348:W330C	W	+	3	0	HEY2	126122617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.320000	0.96346	2.438000	0.82558	0.561000	0.74099	TGG		0.493	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			47	82	1	0	1.63429e-32	0.01441	2.57622e-32	47	82				
VTA1	51534	broad.mit.edu	37	6	142468431	142468431	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:142468431G>T	ENST00000367630.4	+	1	65	c.7G>T	c.(7-9)Gcg>Tcg	p.A3S	VTA1_ENST00000452973.2_5'UTR|VTA1_ENST00000367621.1_5'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	3	Interaction with CHMP5.|Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.A3S(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGAGATGGCCGCGCTTGCACC	0.617											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003qiw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(7-9)GCG>TCG		Vps20-associated 1 homolog							75.0	69.0	71.0					6																	142468431		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142468431G>T	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.7G>T	6.37:g.142468431G>T	ENSP00000356602:p.Ala3Ser		OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1671	VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_5'UTR	p.A3S	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	1	22	+	Breast(32;0.155)		3			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.7G>T	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666976	0.47677	.	.	ENSG00000009844	ENST00000367630;ENST00000427932	T	0.45276	0.9	5.78	3.9	0.45041	.	0.469584	0.22515	N	0.059059	T	0.12390	0.0301	N	0.19112	0.55	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.05801	-1.0863	10	0.32370	T	0.25	-5.5279	8.2451	0.31684	0.0807:0.0:0.7648:0.1545	.	3	Q9NP79	VTA1_HUMAN	S	3;4	ENSP00000356602:A3S	ENSP00000356602:A3S	A	+	1	0	VTA1	142510124	0.996000	0.38824	0.871000	0.34182	0.790000	0.44656	5.834000	0.69361	1.452000	0.47756	0.591000	0.81541	GCG		0.617	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		8	34	1	0	1.12685e-05	0.004482	1.2787e-05	8	34				
GRM1	2911	broad.mit.edu	37	6	146673535	146673535	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:146673535G>T	ENST00000282753.1	+	4	1571	c.1336G>T	c.(1336-1338)Gac>Tac	p.D446Y	GRM1_ENST00000355289.4_Missense_Mutation_p.D446Y|GRM1_ENST00000392299.2_Missense_Mutation_p.D446Y|GRM1_ENST00000492807.2_Missense_Mutation_p.D446Y|GRM1_ENST00000507907.1_Missense_Mutation_p.D446Y|GRM1_ENST00000361719.2_Missense_Mutation_p.D446Y			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	446					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.D446Y(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GAAGCCCATCGACGGCAGCAA	0.552																																							uc010khw.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1336-1338)GAC>TAC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						177.0	167.0	170.0					6																	146673535		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146673535G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1336G>T	6.37:g.146673535G>T	ENSP00000282753:p.Asp446Tyr					GRM1_uc010khv.1_Missense_Mutation_p.D446Y|GRM1_uc003qll.2_Missense_Mutation_p.D446Y|GRM1_uc011edz.1_Missense_Mutation_p.D446Y|GRM1_uc011eea.1_Missense_Mutation_p.D446Y	p.D446Y	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	5	1806	+		Ovarian(120;0.0387)	446			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1336G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036107	0.93630	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.84	5.84	0.93424	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94814	0.8325	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	D	0.94640	0.7829	10	0.87932	D	0	.	20.1379	0.98040	0.0:0.0:1.0:0.0	.	446;446;446	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	Y	446	ENSP00000354896:D446Y;ENSP00000376119:D446Y;ENSP00000424095:D446Y;ENSP00000282753:D446Y;ENSP00000347437:D446Y;ENSP00000425599:D446Y	ENSP00000282753:D446Y	D	+	1	0	GRM1	146715228	1.000000	0.71417	0.820000	0.32676	0.976000	0.68499	9.869000	0.99810	2.779000	0.95612	0.655000	0.94253	GAC		0.552	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		66	128	1	0	2.72615e-36	0.01441	4.42827e-36	66	128				
CCDC170	80129	broad.mit.edu	37	6	151869438	151869438	+	Splice_Site	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:151869438G>T	ENST00000239374.7	+	5	687		c.e5-1		CCDC170_ENST00000367290.5_Splice_Site	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170									p.?(1)									TTTCTCTTCAGCTTAGAGACC	0.338																																							uc003qol.2		NA																	1	Unknown(1)		lung(1)		0						c.e5-1		hypothetical protein LOC80129							50.0	46.0	47.0					6																	151869438		1827	4080	5907	SO:0001630	splice_region_variant	80129							g.chr6:151869438G>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.589-1G>T	6.37:g.151869438G>T							p.L197_splice	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	5	678	+		Ovarian(120;0.126)						Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Splice_Site	SNP	ENST00000239374.7	37	c.589_splice	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090265	0.76756	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3478	0.94372	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf97	151911131	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.759000	0.74934	2.566000	0.86566	0.585000	0.79938	.		0.338	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	Intron	20	35	1	0	6.44725e-10	0.014323	8.15463e-10	20	35				
PAPOLB	56903	broad.mit.edu	37	7	4900091	4900091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:4900091C>A	ENST00000404991.1	-	1	1534	c.1348G>T	c.(1348-1350)Gaa>Taa	p.E450*	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	450					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGAGAATTTCAGAATTATCT	0.378																																							uc003snk.2		NA																	0				ovary(1)	1						c.(1351-1353)GAA>TAA		poly(A) polymerase beta (testis specific)							97.0	102.0	100.0					7																	4900091		2145	4280	6425	SO:0001587	stop_gained	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900091C>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1348G>T	7.37:g.4900091C>A	ENSP00000384700:p.Glu450*					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.E451*	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1535	-		Ovarian(82;0.0175)	450					Q75LH1|Q8NE14	Nonsense_Mutation	SNP	ENST00000404991.1	37	c.1351G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.912122	0.97928	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	15.946	0.79792	0.0:1.0:0.0:0.0	.	.	.	.	X	450	.	ENSP00000384700:E450X	E	-	1	0	PAPOLB	4866617	0.985000	0.35326	0.788000	0.31933	0.979000	0.70002	2.740000	0.47418	2.894000	0.99253	0.591000	0.81541	GAA		0.378	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		80	112	1	0	1.91123e-38	0.01441	3.18538e-38	80	112				
THSD7A	221981	broad.mit.edu	37	7	11501720	11501720	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:11501720G>T	ENST00000423059.4	-	10	2670	c.2419C>A	c.(2419-2421)Cca>Aca	p.P807T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	807	TSP type-1 8. {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.P807T(1)		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)		CCGTTGGCTGGCAGCTGAATG	0.507										HNSCC(18;0.044)																													uc003ssf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2419-2421)CCA>ACA		thrombospondin, type I, domain containing 7A							122.0	121.0	121.0					7																	11501720		1965	4143	6108	SO:0001583	missense	221981					integral to membrane		g.chr7:11501720G>T		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.2419C>A	7.37:g.11501720G>T	ENSP00000406482:p.Pro807Thr	HNSCC(18;0.044)					p.P807T	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	10	2671	-			807			TSP type-1 8.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2419C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669125	0.67814	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.18810	2.19	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	H	0.98068	4.14	0.80722	D	1	P	0.51653	0.947	P	0.57720	0.826	T	0.67317	-0.5701	10	0.18710	T	0.47	.	17.7618	0.88466	0.0:0.0:1.0:0.0	.	807	Q9UPZ6	THS7A_HUMAN	T	807	ENSP00000406482:P807T	ENSP00000262042:P807T	P	-	1	0	THSD7A	11468245	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	8.690000	0.91272	2.937000	0.99478	0.650000	0.86243	CCA		0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		60	118	1	0	3.95532e-38	0.01441	6.55804e-38	60	118				
AGMO	392636	broad.mit.edu	37	7	15599801	15599801	+	Silent	SNP	C	C	A	rs533177176		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:15599801C>A	ENST00000342526.3	-	2	391	c.222G>T	c.(220-222)acG>acT	p.T74T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	74					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.T74T(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTGAGATTGACGTTAAAGCAT	0.453																																							uc003stb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)ACG>ACT		transmembrane protein 195							130.0	118.0	122.0					7																	15599801		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599801C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.222G>T	7.37:g.15599801C>A							p.T74T	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			2	392	-			74					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.222G>T	CCDS34604.1																																																																																				0.453	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		22	65	1	0	7.76418e-22	0.005443	1.15025e-21	22	65				
DNAH11	8701	broad.mit.edu	37	7	21745109	21745109	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:21745109G>T	ENST00000409508.3	+	39	6531	c.6500G>T	c.(6499-6501)cGg>cTg	p.R2167L	DNAH11_ENST00000328843.6_Missense_Mutation_p.R2174L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2174	AAA 2. {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.R2174L(1)		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						TTGGCTGTGCGGCACTCGGTC	0.423									Kartagener syndrome																														uc003svc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6520-6522)CGG>CTG		dynein, axonemal, heavy chain 11							90.0	93.0	92.0					7																	21745109		1943	4151	6094	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.chr7:21745109G>T	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.6500G>T	7.37:g.21745109G>T	ENSP00000475939:p.Arg2167Leu						p.R2174L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			40	6552	+			2174			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6521G>T		.	.	.	.	.	.	.	.	.	.	G	25.9	4.680533	0.88542	.	.	ENSG00000105877	ENST00000328843	T	0.41400	1.0	5.62	5.62	0.85841	ATPase, AAA+ type, core (1);	0.058338	0.64402	D	0.000004	T	0.42921	0.1224	.	.	.	0.58432	D	0.999999	B	0.18310	0.027	B	0.16722	0.016	T	0.30179	-0.9987	9	0.87932	D	0	.	20.0098	0.97447	0.0:0.0:1.0:0.0	.	2174	Q96DT5	DYH11_HUMAN	L	2174	ENSP00000330671:R2174L	ENSP00000330671:R2174L	R	+	2	0	DNAH11	21711634	0.954000	0.32549	0.246000	0.24233	0.703000	0.40648	5.316000	0.65815	2.809000	0.96659	0.650000	0.86243	CGG		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	45	1	0	0.00621372	0.006214	0.00662796	6	45				
INHBA	3624	broad.mit.edu	37	7	41739733	41739733	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:41739733C>T	ENST00000242208.4	-	2	486	c.240G>A	c.(238-240)aaG>aaA	p.K80K	INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Silent_p.K80K|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000422822.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	80					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|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)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.K80K(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAAGCGCCGCCTTGGGTACCG	0.527										TSP Lung(11;0.080)																													uc003thq.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(1)	6						c.(238-240)AAG>AAA		inhibin beta A precursor							283.0	302.0	295.0					7																	41739733		2203	4300	6503	SO:0001819	synonymous_variant	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739733C>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.240G>A	7.37:g.41739733C>T		TSP Lung(11;0.080)				LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Silent_p.K80K|LOC285954_uc003ths.2_Intron	p.K80K	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	475	-			80					Q14599	Silent	SNP	ENST00000242208.4	37	c.240G>A	CCDS5464.1																																																																																				0.527	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			8	626	0	0	0	0.001855	0	8	626				
ELN	2006	broad.mit.edu	37	7	73480297	73480297	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:73480297C>T	ENST00000252034.7	+	31	2455	c.2056C>T	c.(2056-2058)Cta>Tta	p.L686L	ELN_ENST00000320492.7_Silent_p.L605L|ELN_ENST00000445912.1_Intron|ELN_ENST00000414324.1_Silent_p.L662L|ELN_ENST00000357036.5_Intron|ELN_ENST00000458204.1_Silent_p.L676L|ELN_ENST00000358929.4_Silent_p.L754L|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380562.4_Silent_p.L692L|ELN_ENST00000380576.5_Silent_p.L667L|ELN_ENST00000429192.1_Intron|ELN_ENST00000320399.6_Silent_p.L719L	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.L686L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGAGGTGTCCTAGGGGGTGC	0.622			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																uc003tzw.2		NA		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(2074-2076)CTA>TTA		elastin isoform a precursor	Rofecoxib(DB00533)						88.0	85.0	86.0					7																	73480297		2203	4299	6502	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73480297C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.2056C>T	7.37:g.73480297C>T						RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.L686L|ELN_uc003tzz.2_Silent_p.L605L|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Intron|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.L667L|ELN_uc003tzt.2_Intron|ELN_uc003tzu.2_Intron|ELN_uc003tzv.2_Intron|ELN_uc003tzx.2_Silent_p.L676L|ELN_uc011kff.1_Intron|ELN_uc003tzy.2_Silent_p.L662L	p.L692L	NM_000501	NP_001075224	P15502	ELN_HUMAN			31	2165	+		Lung NSC(55;0.159)	748					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.2074C>T	CCDS5562.2																																																																																				0.622	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		4	144	0	0	0	0.000602	0	4	144				
KMT2E	55904	broad.mit.edu	37	7	104745898	104745898	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:104745898G>C	ENST00000311117.3	+	18	2754	c.2209G>C	c.(2209-2211)Gaa>Caa	p.E737Q	KMT2E_ENST00000334877.4_Missense_Mutation_p.E737Q|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.E737Q|CTB-152G17.6_ENST00000607968.1_RNA	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	737					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E737Q(1)									CTTGGTTAATGAATGGTTAAG	0.348																																							uc003vcm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2209-2211)GAA>CAA		myeloid/lymphoid or mixed-lineage leukemia 5							59.0	61.0	60.0					7																	104745898		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104745898G>C	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2209G>C	7.37:g.104745898G>C	ENSP00000312379:p.Glu737Gln					MLL5_uc010ljc.2_Missense_Mutation_p.E737Q|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank	p.E737Q	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			18	2743	+			737					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.2209G>C	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697655	0.68386	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.96300	-3.97;-3.36;-3.97	6.04	6.04	0.98038	.	0.088837	0.85682	D	0.000000	D	0.97729	0.9255	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97667	1.0164	10	0.59425	D	0.04	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	737	Q8IZD2	MLL5_HUMAN	Q	737;737;737;657;737	ENSP00000312379:E737Q;ENSP00000335599:E737Q;ENSP00000257745:E737Q	ENSP00000257745:E737Q	E	+	1	0	MLL5	104533134	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.230000	0.95299	2.873000	0.98535	0.561000	0.74099	GAA		0.348	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			3	101	0	0	0	0.009096	0	3	101				
MET	4233	broad.mit.edu	37	7	116339807	116339807	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:116339807A>G	ENST00000318493.6	+	2	856	c.669A>G	c.(667-669)aaA>aaG	p.K223K	MET_ENST00000436117.2_Silent_p.K223K|MET_ENST00000397752.3_Silent_p.K223K			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K223K(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGGAAACGAAAGATGGTTTTA	0.383			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														uc003vij.2		NA		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(667-669)AAA>AAG		met proto-oncogene isoform b precursor							191.0	188.0	189.0					7																	116339807		1891	4114	6005	SO:0001819	synonymous_variant	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116339807A>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.669A>G	7.37:g.116339807A>G						MET_uc010lkh.2_Silent_p.K223K|MET_uc011knc.1_Silent_p.K223K|MET_uc011knd.1_Silent_p.K223K|MET_uc011kne.1_Silent_p.K223K|MET_uc011knf.1_Silent_p.K223K|MET_uc011kng.1_Silent_p.K223K|MET_uc011knh.1_Silent_p.K223K|MET_uc011kni.1_Silent_p.K223K|MET_uc003vii.1_Silent_p.K242K|MET_uc010lkg.2_Silent_p.K223K|MET_uc011kmz.1_Silent_p.K223K|MET_uc011kna.1_Silent_p.K223K|MET_uc011knb.1_Silent_p.K223K	p.K223K	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	856	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	223			Extracellular (Potential).|Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.669A>G	CCDS47689.1																																																																																				0.383	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			8	279	0	0	0	0.00308	0	8	279				
PTPRZ1	5803	broad.mit.edu	37	7	121682660	121682660	+	Splice_Site	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:121682660A>C	ENST00000393386.2	+	22	6212		c.e22-1		PTPRZ1_ENST00000449182.1_Splice_Site	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						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.?(2)		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						TCTTCTCTTCAGTGCTGGAGT	0.333																																							uc003vjy.2		NA																	2	Unknown(2)		lung(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.e22-2		protein tyrosine phosphatase, receptor-type,							97.0	77.0	84.0					7																	121682660		2203	4300	6503	SO:0001630	splice_region_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121682660A>C	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.5802-1A>C	7.37:g.121682660A>C						PTPRZ1_uc003vjz.2_Splice_Site_p.S1067_splice|PTPRZ1_uc011knt.1_Splice_Site_p.S524_splice	p.S1934_splice	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			22	6197	+								A4D0W5|C9JFM0|O76043|Q9UDR6	Splice_Site	SNP	ENST00000393386.2	37	c.5802_splice	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	35	5.560271	0.96527	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2644	0.82568	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRZ1	121469896	1.000000	0.71417	0.735000	0.30896	0.763000	0.43281	9.339000	0.96797	2.244000	0.73946	0.528000	0.53228	.		0.333	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	Intron	6	36	0	0	0	0.001168	0	6	36				
RNF133	168433	broad.mit.edu	37	7	122338100	122338100	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:122338100C>A	ENST00000340112.2	-	1	1110	c.873G>T	c.(871-873)ggG>ggT	p.G291G	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	291					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G291G(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGGGCATGTCCCATGGGGTA	0.373																																					Colon(198;1778 2057 7449 19869 45985)	Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(871-873)GGG>GGT		ring finger protein 133							80.0	81.0	81.0					7																	122338100		2203	4299	6502	SO:0001819	synonymous_variant	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338100C>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.873G>T	7.37:g.122338100C>A						CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.G291G	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	1109	-			291			RING-type; atypical.		A4D0W2|Q8N7G7	Silent	SNP	ENST00000340112.2	37	c.873G>T	CCDS5784.1																																																																																				0.373	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		46	39	1	0	2.55665e-31	0.01441	4.01043e-31	46	39				
TAS2R16	50833	broad.mit.edu	37	7	122635134	122635134	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:122635134C>T	ENST00000249284.2	-	1	620	c.555G>A	c.(553-555)ttG>ttA	p.L185L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	185					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.L185L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGGAATAACCAATGCAACTG	0.433																																							uc003vkl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(553-555)TTG>TTA		taste receptor T2R16							159.0	139.0	146.0					7																	122635134		2203	4300	6503	SO:0001819	synonymous_variant	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635134C>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.555G>A	7.37:g.122635134C>T							p.L185L	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	621	-			185			Helical; Name=5; (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	ENST00000249284.2	37	c.555G>A	CCDS5785.1																																																																																				0.433	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		9	119	0	0	0	0.004482	0	9	119				
RNF32	140545	broad.mit.edu	37	7	156468537	156468537	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:156468537T>A	ENST00000405335.1	+	9	1241	c.832T>A	c.(832-834)Tgg>Agg	p.W278R	LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Missense_Mutation_p.W278R|RNF32_ENST00000392743.2_Missense_Mutation_p.W278R|RNF32_ENST00000343665.4_Missense_Mutation_p.W254R|RNF32_ENST00000311822.8_Missense_Mutation_p.W278R|RNF32_ENST00000432459.2_Missense_Mutation_p.W278R			Q9H0A6	RNF32_HUMAN	ring finger protein 32	278						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)	p.W278R(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAAGAGGAATGGGAGAAAAT	0.522																																							uc003wmo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(832-834)TGG>AGG		ring finger protein 32							119.0	112.0	114.0					7																	156468537		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156468537T>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.832T>A	7.37:g.156468537T>A	ENSP00000385285:p.Trp278Arg					RNF32_uc010lqm.2_Missense_Mutation_p.W278R|RNF32_uc003wmq.2_Missense_Mutation_p.W278R|RNF32_uc003wmr.2_Missense_Mutation_p.W278R|RNF32_uc003wmu.2_RNA	p.W278R	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	8	1014	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	278					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.832T>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741645	0.49151	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000343665	T;T;T;T;T;T	0.60299	1.46;1.46;1.46;0.2;1.46;1.26	5.22	5.22	0.72569	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80870	-0.1189	10	0.87932	D	0	-16.3541	14.782	0.69774	0.0:0.0:0.0:1.0	.	278;278	G5E940;Q9H0A6	.;RNF32_HUMAN	R	278;278;278;278;278;254	ENSP00000405588:W278R;ENSP00000315950:W278R;ENSP00000385285:W278R;ENSP00000308894:W278R;ENSP00000376499:W278R;ENSP00000341185:W254R	ENSP00000308894:W278R	W	+	1	0	RNF32	156161298	1.000000	0.71417	0.775000	0.31657	0.221000	0.24807	4.903000	0.63272	1.974000	0.57490	0.528000	0.53228	TGG		0.522	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		53	57	0	0	0	0.01441	0	53	57				
KIF13B	23303	broad.mit.edu	37	8	29023195	29023195	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:29023195G>A	ENST00000524189.1	-	12	1291	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	KIF13B_ENST00000521515.1_Missense_Mutation_p.T418M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	418					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.T418M(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AATCTCCTCCGTTTTCCTTAA	0.458																																							uc003xhh.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1252-1254)ACG>ATG		kinesin family member 13B							151.0	146.0	147.0					8																	29023195		1909	4119	6028	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29023195G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1253C>T	8.37:g.29023195G>A	ENSP00000427900:p.Thr418Met					KIF13B_uc003xhj.2_Missense_Mutation_p.T315M|KIF13B_uc010lvf.1_Missense_Mutation_p.T354M	p.T418M	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	12	1312	-		Ovarian(32;0.000536)	418			Potential.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1253C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746172	0.89663	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.80033	-1.33;-1.18	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92234	0.7537	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.992	D	0.93241	0.6626	10	0.87932	D	0	.	19.4735	0.94973	0.0:0.0:1.0:0.0	.	404;418;418	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	M	418	ENSP00000427900:T418M;ENSP00000429201:T418M	ENSP00000429201:T418M	T	-	2	0	KIF13B	29079114	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	9.596000	0.98267	2.836000	0.97738	0.655000	0.94253	ACG		0.458	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			8	71	0	0	0	0.006214	0	8	71				
Unknown	0	broad.mit.edu	37	8	73150328	73150328	+	IGR	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:73150328A>G								RP11-142A23.1 (35824 upstream) : RNA5SP271 (119634 downstream)																							GTCCAGGCACATTTTCATCAT	0.418																																							uc010lzg.2		NA																	0					NA						c.(379-381)ATG>ACG		Homo sapiens cDNA, FLJ99767.																																				SO:0001628	intergenic_variant	0							g.chr8:73150328A>G																													8.37:g.73150328A>G							p.M127T							7	916	-									Missense_Mutation	SNP		37	c.380T>C																																																																																				0	0.418									24	51	0	0	0	0.00632	0	24	51				
KCNB2	9312	broad.mit.edu	37	8	73480420	73480420	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:73480420G>C	ENST00000523207.1	+	2	1039	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	151					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.E151Q(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)	AATGAACGAAGAACTGAGGCG	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.(451-453)GAA>CAA		potassium voltage-gated channel, Shab-related							127.0	134.0	132.0					8																	73480420		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480420G>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.451G>C	8.37:g.73480420G>C	ENSP00000430846:p.Glu151Gln						p.E151Q	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1039	+	Breast(64;0.137)		151			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.451G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739081	0.89573	.	.	ENSG00000182674	ENST00000523207	D	0.97209	-4.29	6.07	6.07	0.98685	BTB/POZ fold (1);	0.403487	0.17924	U	0.157394	D	0.97704	0.9247	L	0.48935	1.535	0.80722	D	1	D	0.65815	0.995	D	0.64144	0.922	D	0.97654	1.0156	10	0.52906	T	0.07	.	20.2697	0.98465	0.0:0.0:1.0:0.0	.	151	Q92953	KCNB2_HUMAN	Q	151	ENSP00000430846:E151Q	ENSP00000430846:E151Q	E	+	1	0	KCNB2	73642974	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		67	149	0	0	0	0.01441	0	67	149				
ZFHX4	79776	broad.mit.edu	37	8	77617092	77617093	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:77617092_77617093CC>AG	ENST00000521891.2	+	2	1217_1218	c.769_770CC>AG	c.(769-771)CCt>AGt	p.P257S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P257S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P257S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P257S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	257					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.P257R(1)		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)			CAAAGATGTCCCTAACAATGTG	0.421										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(769-771)CCT>AGT		zinc finger homeodomain 4																																				SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617092_77617093CC>AG		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	Exception_encountered	8.37:g.77617092_77617093delinsAG	ENSP00000430497:p.Pro257Ser	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.P257S|ZFHX4_uc003yau.1_Missense_Mutation_p.P257S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P257S	p.P257S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1156_1157	+			257					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	DNP	ENST00000521891.2	37	c.769_770CC>AG	CCDS47878.2																																																																																				0.421	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		29	56	0	0	0	0.004672	0	29	56				
CSMD3	114788	broad.mit.edu	37	8	113651094	113651094	+	Silent	SNP	G	G	A	rs145905619		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:113651094G>A	ENST00000297405.5	-	21	3601	c.3357C>T	c.(3355-3357)gaC>gaT	p.D1119D	CSMD3_ENST00000455883.2_Silent_p.D1015D|CSMD3_ENST00000343508.3_Silent_p.D1079D|CSMD3_ENST00000352409.3_Silent_p.D1119D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1119	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1119D(1)|p.D1079D(1)		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						TCAGTAAGTAGTCATGATGGT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - coding silent(2)		lung(2)	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.(3355-3357)GAC>GAT		CUB and Sushi multiple domains 3 isoform 1		G	,,	0,4406		0,0,2203	111.0	105.0	107.0		3045,3357,3237	4.3	1.0	8	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1015/3539,1119/3708,1079/3668	113651094	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113651094G>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.3357C>T	8.37:g.113651094G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.D391D|CSMD3_uc003ynt.2_Silent_p.D1079D|CSMD3_uc011lhx.1_Silent_p.D1015D	p.D1119D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			21	3516	-			1119			Extracellular (Potential).|CUB 6.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3357C>T	CCDS6315.1																																																																																				0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	41	0	0	0	0.004007	0	16	41				
PSIP1	11168	broad.mit.edu	37	9	15472678	15472678	+	Missense_Mutation	SNP	T	T	G	rs200120477		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:15472678T>G	ENST00000380733.4	-	10	1272	c.929A>C	c.(928-930)gAa>gCa	p.E310A	PSIP1_ENST00000380738.4_Missense_Mutation_p.E310A|PSIP1_ENST00000380715.1_Missense_Mutation_p.E310A|PSIP1_ENST00000380716.4_Missense_Mutation_p.E310A|PSIP1_ENST00000397519.2_Missense_Mutation_p.E310A			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	310					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)	p.E310A(2)		breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ATCTGCTGCTTCTTTCTCATG	0.373																																							uc003zlv.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(928-930)GAA>GCA		PC4 and SFRS1 interacting protein 1 isoform 2		T	ALA/GLU,ALA/GLU,ALA/GLU	0,4404		0,0,2202	194.0	172.0	180.0		929,929,929	4.9	1.0	9		180	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PSIP1	NM_001128217.1,NM_021144.3,NM_033222.3	107,107,107	0,1,6501	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	310/531,310/334,310/531	15472678	1,13003	2202	4300	6502	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15472678T>G	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.929A>C	9.37:g.15472678T>G	ENSP00000370109:p.Glu310Ala					PSIP1_uc003zlw.3_Missense_Mutation_p.E310A|PSIP1_uc003zlz.3_Missense_Mutation_p.E310A|PSIP1_uc003zma.3_Missense_Mutation_p.E301A|PSIP1_uc003zly.2_Missense_Mutation_p.E310A	p.E310A	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	10	1259	-			310			Potential.		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.929A>C	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945482	0.73672	0.0	1.16E-4	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.51325	0.71;0.71;0.75;0.77;0.77	6.07	4.9	0.64082	.	0.334006	0.35349	N	0.003266	T	0.45256	0.1333	L	0.56769	1.78	0.34562	D	0.712447	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.54801	-0.8239	10	0.72032	D	0.01	.	12.0921	0.53733	0.0:0.0:0.1434:0.8566	.	310;310	O75475-2;O75475	.;PSIP1_HUMAN	A	310	ENSP00000370109:E310A;ENSP00000370114:E310A;ENSP00000370091:E310A;ENSP00000370092:E310A;ENSP00000380653:E310A	ENSP00000370091:E310A	E	-	2	0	PSIP1	15462678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.157000	0.64911	1.070000	0.40811	0.477000	0.44152	GAA		0.373	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		20	62	0	0	0	0.014323	0	20	62				
BNC2	54796	broad.mit.edu	37	9	16437347	16437347	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:16437347A>T	ENST00000380672.4	-	6	902	c.845T>A	c.(844-846)aTa>aAa	p.I282K	BNC2_ENST00000380667.2_Missense_Mutation_p.I215K|BNC2_ENST00000545497.1_Missense_Mutation_p.I187K|BNC2_ENST00000380666.2_Missense_Mutation_p.I282K	NM_017637.5	NP_060107.3			basonuclin 2									p.I282K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAAAGTCCTTATATCTGAGTC	0.473																																							uc003zml.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(844-846)ATA>AAA		basonuclin 2							164.0	155.0	158.0					9																	16437347		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437347A>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.845T>A	9.37:g.16437347A>T	ENSP00000370047:p.Ile282Lys					BNC2_uc011lmw.1_Missense_Mutation_p.I187K|BNC2_uc003zmm.2_Missense_Mutation_p.I240K|BNC2_uc003zmq.1_Missense_Mutation_p.I296K|BNC2_uc003zmr.1_Missense_Mutation_p.I319K|BNC2_uc003zmp.1_Missense_Mutation_p.I310K|BNC2_uc010mij.1_Missense_Mutation_p.I204K|BNC2_uc011lmv.1_Missense_Mutation_p.I108K|BNC2_uc003zmo.1_Missense_Mutation_p.I204K|BNC2_uc003zmj.2_Missense_Mutation_p.I47K|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.I47K|BNC2_uc003zmn.1_Missense_Mutation_p.I47K	p.I282K	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	985	-			282						Missense_Mutation	SNP	ENST00000380672.4	37	c.845T>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632266	0.67015	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.996;0.997;0.998;0.999;0.995;0.998;0.998;0.998	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.987;0.988;0.994;0.986;0.994;0.979;0.991;0.991;0.987	T	0.00042	-1.2228	10	0.87932	D	0	-18.3897	16.6406	0.85098	1.0:0.0:0.0:0.0	.	187;215;319;282;108;282;240;282;187;47	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;.;BNC2_HUMAN;.;.	K	282;239;319;310;215;187;108;282;282	ENSP00000370047:I282K;ENSP00000408370:I239K;ENSP00000370042:I215K;ENSP00000444640:I187K;ENSP00000370041:I282K	ENSP00000370041:I282K	I	-	2	0	BNC2	16427347	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	ATA		0.473	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		17	163	0	0	0	0.00499	0	17	163				
SLC24A2	25769	broad.mit.edu	37	9	19550264	19550264	+	Silent	SNP	G	G	T	rs375331527		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:19550264G>T	ENST00000341998.2	-	7	1411	c.1350C>A	c.(1348-1350)acC>acA	p.T450T	SLC24A2_ENST00000286344.3_Silent_p.T433T	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	450					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.T450T(1)		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)		CCTCATCAGCGGTCTGTGGTA	0.453																																							uc003zoa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1348-1350)ACC>ACA		solute carrier family 24							90.0	93.0	92.0					9																	19550264		2203	4300	6503	SO:0001819	synonymous_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19550264G>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.1350C>A	9.37:g.19550264G>T						SLC24A2_uc003zob.1_Silent_p.T433T	p.T450T	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	7	1412	-			450			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	ENST00000341998.2	37	c.1350C>A	CCDS6493.1																																																																																				0.453	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		16	93	1	0	1.5739e-10	0.004007	2.02268e-10	16	93				
TLN1	7094	broad.mit.edu	37	9	35710595	35710595	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:35710595G>A	ENST00000314888.9	-	33	4642	c.4289C>T	c.(4288-4290)tCa>tTa	p.S1430L	TLN1_ENST00000464379.1_5'Flank|TLN1_ENST00000540444.1_Missense_Mutation_p.S1430L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1430	Interaction with SYNM.				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.S1430L(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)			AAGTGCCTTTGAGGCTGTGGA	0.517																																							uc003zxt.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(4288-4290)TCA>TTA		talin 1							71.0	69.0	70.0					9																	35710595		2203	4300	6503	SO:0001583	missense	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.chr9:35710595G>A	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.4289C>T	9.37:g.35710595G>A	ENSP00000316029:p.Ser1430Leu						p.S1430L	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)		33	4643	-	all_epithelial(49;0.167)		1430			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4289C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406854	0.96051	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.32023	1.47;1.47	5.7	5.7	0.88788	.	0.050943	0.85682	D	0.000000	T	0.53110	0.1776	M	0.81497	2.545	0.80722	D	1	D	0.57571	0.98	P	0.53185	0.72	T	0.58769	-0.7578	10	0.87932	D	0	-13.8802	19.8471	0.96713	0.0:0.0:1.0:0.0	.	1430	Q9Y490	TLN1_HUMAN	L	1430	ENSP00000316029:S1430L;ENSP00000442981:S1430L	ENSP00000316029:S1430L	S	-	2	0	TLN1	35700595	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	TCA		0.517	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		13	31	0	0	0	0.008871	0	13	31				
KIF27	55582	broad.mit.edu	37	9	86503413	86503413	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:86503413C>G	ENST00000297814.2	-	8	2217	c.2074G>C	c.(2074-2076)Gag>Cag	p.E692Q	KIF27_ENST00000376347.1_Missense_Mutation_p.E83Q|KIF27_ENST00000413982.1_Missense_Mutation_p.E692Q|KIF27_ENST00000334204.2_Missense_Mutation_p.E692Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	692					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E692Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CCTTCATTCTCCAAATCTGAC	0.343																																							uc004ana.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(1)	5						c.(2074-2076)GAG>CAG		kinesin family member 27							92.0	89.0	90.0					9																	86503413		2203	4299	6502	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86503413C>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2074G>C	9.37:g.86503413C>G	ENSP00000297814:p.Glu692Gln					KIF27_uc010mpw.2_Missense_Mutation_p.E692Q|KIF27_uc010mpx.2_Missense_Mutation_p.E692Q	p.E692Q	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			8	2218	-			692					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.2074G>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.412246	0.01145	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.12	3.14	0.36123	.	1.003840	0.08033	N	0.993866	T	0.25791	0.0628	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.09377	0.001;0.004;0.001	T	0.09422	-1.0675	10	0.11485	T	0.65	.	9.2143	0.37337	0.0:0.7777:0.2223:0.0	.	692;692;692	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Q	692;692;692;83	ENSP00000297814:E692Q;ENSP00000401688:E692Q;ENSP00000333928:E692Q;ENSP00000365525:E83Q	ENSP00000297814:E692Q	E	-	1	0	KIF27	85693233	0.091000	0.21658	0.062000	0.19696	0.077000	0.17291	0.617000	0.24359	2.312000	0.78011	0.585000	0.79938	GAG		0.343	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		18	30	0	0	0	0.006122	0	18	30				
PTCH1	5727	broad.mit.edu	37	9	98209232	98209232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:98209232C>A	ENST00000331920.6	-	23	4605	c.4306G>T	c.(4306-4308)Gaa>Taa	p.E1436*	PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E1435*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E1285*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.E1370*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E1285*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E1285*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E1370*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1436					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.E1435*(2)|p.E1436*(1)|p.V1435V(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)				TCCTCGCATTCCACGTCCTGC	0.602																																							uc004avk.3		NA																	4	Substitution - Nonsense(3)|Substitution - coding silent(1)		lung(4)	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.(4306-4308)GAA>TAA		patched isoform L							100.0	100.0	100.0					9																	98209232		2203	4300	6503	SO:0001587	stop_gained	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.chr9:98209232C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4306G>T	9.37:g.98209232C>A	ENSP00000332353:p.Glu1436*					PTCH1_uc010mrn.2_Nonsense_Mutation_p.E228*|PTCH1_uc010mro.2_Nonsense_Mutation_p.E1285*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.E1285*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.E1285*|PTCH1_uc004avl.3_Nonsense_Mutation_p.E1285*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.E1370*|PTCH1_uc004avm.3_Nonsense_Mutation_p.E1435*	p.E1436*	NM_000264	NP_000255	Q13635	PTC1_HUMAN			23	4494	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1436			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	c.4306G>T	CCDS6714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.194100|11.194100	0.99529|0.99529	.|.	.|.	ENSG00000185920|ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274|ENST00000375284	.|.	.|.	.|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.048726|.	0.85682|.	D|.	0.000000|.	.|T	.|0.78521	.|0.4296	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81406	.|-0.0947	.|5	0.72032|0.87932	D|D	0.01|0	-13.9254|-13.9254	18.6101|18.6101	0.91281|0.91281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|C	1436;1370;1285;1285;1370;1285;1435|227	.|.	ENSP00000332353:E1436X|ENSP00000364433:W227C	E|W	-|-	1|3	0|0	PTCH1|PTCH1	97249053|97249053	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.947000|0.947000	0.59692|0.59692	7.619000|7.619000	0.83057|0.83057	2.623000|2.623000	0.88846|0.88846	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.602	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		52	84	1	0	1.57914e-17	0.01441	2.26604e-17	52	84				
OR13C4	138804	broad.mit.edu	37	9	107288692	107288692	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:107288692G>T	ENST00000277216.3	-	1	798	c.799C>A	c.(799-801)Ctc>Atc	p.L267I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L267I(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TTCCCAAGGAGGTCCTGGGAC	0.428																																							uc011lvn.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(799-801)CTC>ATC		olfactory receptor, family 13, subfamily C,							88.0	81.0	83.0					9																	107288692		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288692G>T		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.799C>A	9.37:g.107288692G>T	ENSP00000277216:p.Leu267Ile						p.L267I	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	799	-			267			Extracellular (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.799C>A	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	G	3.129	-0.178942	0.06380	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00130	8.69	3.34	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	2.184120	0.02704	U	0.112051	T	0.00109	0.0003	N	0.16098	0.37	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.32798	-0.9893	10	0.66056	D	0.02	.	5.6801	0.17771	0.1211:0.0:0.6546:0.2243	.	267	Q8NGS5	O13C4_HUMAN	I	267;296	ENSP00000277216:L267I	ENSP00000277216:L267I	L	-	1	0	OR13C4	106328513	0.000000	0.05858	0.001000	0.08648	0.407000	0.30961	-1.315000	0.02713	0.357000	0.24183	0.467000	0.42956	CTC		0.428	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			10	76	1	0	1.58986e-06	0.008291	1.84332e-06	10	76				
SVEP1	79987	broad.mit.edu	37	9	113265485	113265485	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:113265485G>A	ENST00000401783.2	-	6	1652	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	SVEP1_ENST00000302728.8_Missense_Mutation_p.P439L|SVEP1_ENST00000374461.1_Missense_Mutation_p.P416L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P416L|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	439	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P439L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCGGAGATGAGGACATGTTCT	0.368																																							uc010mtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(1315-1317)CCT>CTT		polydom							120.0	117.0	118.0					9																	113265485		1955	4138	6093	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113265485G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1316C>T	9.37:g.113265485G>A	ENSP00000384917:p.Pro439Leu					SVEP1_uc010mua.1_Missense_Mutation_p.P439L|SVEP1_uc004beu.2_Missense_Mutation_p.P439L	p.P439L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			6	1653	-			439			Sushi 2.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1316C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376159	0.61735	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.71	4.76	0.60689	Complement control module (2);Growth factor, receptor (1);Sushi/SCR/CCP (3);	0.115428	0.64402	D	0.000012	D	0.83510	0.5270	M	0.91663	3.23	0.58432	D	0.999996	D;D;D	0.63880	0.982;0.993;0.977	P;P;P	0.61070	0.824;0.883;0.73	D	0.87268	0.2284	10	0.72032	D	0.01	.	16.1821	0.81915	0.0:0.1331:0.8669:0.0	.	439;439;439	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	L	439;416;439;416	ENSP00000384917:P439L;ENSP00000363593:P416L;ENSP00000304118:P439L;ENSP00000363585:P416L	ENSP00000304118:P439L	P	-	2	0	SVEP1	112305306	1.000000	0.71417	0.409000	0.26459	0.456000	0.32438	5.688000	0.68227	2.687000	0.91594	0.655000	0.94253	CCT		0.368	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	73	0	0	0	0.004482	0	9	73				
TTC16	158248	broad.mit.edu	37	9	130479235	130479235	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:130479235G>T	ENST00000373289.3	+	2	211	c.131G>T	c.(130-132)aGc>aTc	p.S44I	PTRH1_ENST00000543175.1_5'Flank|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000423807.1_5'Flank|PTRH1_ENST00000419060.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	44								p.S44I(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GTGTTCCAAAGCATCTGTGAT	0.552																																							uc004brq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)AGC>ATC		tetratricopeptide repeat domain 16							130.0	113.0	118.0					9																	130479235		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130479235G>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.131G>T	9.37:g.130479235G>T	ENSP00000362386:p.Ser44Ile					PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'UTR|PTRH1_uc011mah.1_5'UTR|TTC16_uc011mai.1_Missense_Mutation_p.S44I|TTC16_uc004brr.1_5'Flank	p.S44I	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			2	198	+			44					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.131G>T	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480332	0.26598	.	.	ENSG00000167094	ENST00000373289	T	0.14893	2.47	3.8	-7.6	0.01303	.	2.696700	0.01197	N	0.007469	T	0.07413	0.0187	N	0.14661	0.345	0.09310	N	1	B;B	0.30763	0.294;0.294	B;B	0.21360	0.034;0.034	T	0.11348	-1.0591	10	0.51188	T	0.08	-1.7842	1.917	0.03299	0.1336:0.2162:0.4252:0.2251	.	44;44	B4DZ42;Q8NEE8	.;TTC16_HUMAN	I	44	ENSP00000362386:S44I	ENSP00000362386:S44I	S	+	2	0	TTC16	129519056	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-1.419000	0.02460	-2.638000	0.00430	0.462000	0.41574	AGC		0.552	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		9	59	1	0	7.48243e-07	0.006214	8.70683e-07	9	59				
GPR143	4935	broad.mit.edu	37	X	9693874	9693874	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:9693874T>C	ENST00000467482.1	-	9	1273	c.1127A>G	c.(1126-1128)gAt>gGt	p.D376G	GPR143_ENST00000380929.2_Missense_Mutation_p.D396G			P51810	GP143_HUMAN	G protein-coupled receptor 143	376					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)	p.D396G(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TGTGCTGGCATCAGAACCTGG	0.463																																							uc004cst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1186-1188)GAT>GGT		G protein-coupled receptor 143							159.0	122.0	135.0					X																	9693874		2203	4300	6503	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9693874T>C	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.1127A>G	X.37:g.9693874T>C	ENSP00000417161:p.Asp376Gly						p.D396G	NM_000273	NP_000264	P51810	GP143_HUMAN			9	1187	-		Hepatocellular(5;0.000888)	376			Cytoplasmic (Potential).		Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.1187A>G	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	T	4.000	-0.002637	0.07819	.	.	ENSG00000101850	ENST00000467482;ENST00000380929	D;D	0.99436	-5.9;-5.9	4.28	3.1	0.35709	.	0.511750	0.21628	N	0.071536	D	0.97848	0.9293	L	0.56769	1.78	0.29048	N	0.884684	B	0.12013	0.005	B	0.16722	0.016	D	0.94726	0.7905	10	0.20046	T	0.44	-5.4119	7.1085	0.25376	0.0:0.1111:0.0:0.8889	.	376	P51810	GP143_HUMAN	G	376;396	ENSP00000417161:D376G;ENSP00000370316:D396G	ENSP00000370316:D396G	D	-	2	0	GPR143	9653874	0.978000	0.34361	0.007000	0.13788	0.145000	0.21501	2.511000	0.45476	0.466000	0.27193	0.356000	0.21956	GAT		0.463	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		6	47	0	0	0	0.001984	0	6	47				
FRMPD4	9758	broad.mit.edu	37	X	12722577	12722577	+	Silent	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:12722577T>C	ENST00000380682.1	+	11	1676	c.1170T>C	c.(1168-1170)aaT>aaC	p.N390N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	390	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.N380N(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAAGCAAATCAAAACTTGG	0.343																																							uc004cuz.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(1168-1170)AAT>AAC		FERM and PDZ domain containing 4							101.0	95.0	97.0					X																	12722577		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12722577T>C	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1170T>C	X.37:g.12722577T>C						FRMPD4_uc011mij.1_Silent_p.N382N	p.N390N	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			11	1676	+			390			FERM.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.1170T>C	CCDS35201.1																																																																																				0.343	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		3	103	0	0	0	0.009096	0	3	103				
HUWE1	10075	broad.mit.edu	37	X	53607798	53607798	+	Silent	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:53607798T>A	ENST00000342160.3	-	42	6166	c.5709A>T	c.(5707-5709)tcA>tcT	p.S1903S	HUWE1_ENST00000262854.6_Silent_p.S1903S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1903					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S1766S(1)|p.S1903S(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACCAGTTCCTGAGCCTCGAG	0.498																																							uc004dsp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(5707-5709)TCA>TCT		HECT, UBA and WWE domain containing 1							57.0	43.0	48.0					X																	53607798		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53607798T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5709A>T	X.37:g.53607798T>A						HUWE1_uc004dsn.2_Silent_p.S728S	p.S1903S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			43	6111	-			1903					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.5709A>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588211	0.28357	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.84	4.61	0.57282	.	.	.	.	.	T	0.57519	0.2059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55939	-0.8061	4	.	.	.	.	7.955	0.30038	0.3585:0.0:0.0:0.6415	.	.	.	.	W	937	.	.	R	-	1	2	HUWE1	53624523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.737000	0.26144	1.971000	0.57363	0.486000	0.48141	AGG		0.498	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		13	51	0	0	0	0.001855	0	13	51				
DGAT2L6	347516	broad.mit.edu	37	X	69421829	69421829	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:69421829G>T	ENST00000333026.3	+	5	662	c.562G>T	c.(562-564)Gct>Tct	p.A188S		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	188					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.A188S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGGTGGAGCTGCTGAAGCTCT	0.537																																							uc004dxx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)GCT>TCT		diacylglycerol O-acyltransferase 2-like 6							105.0	83.0	90.0					X																	69421829		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69421829G>T	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.562G>T	X.37:g.69421829G>T	ENSP00000328036:p.Ala188Ser						p.A188S	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			5	659	+			188					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.562G>T	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	G	9.899	1.206252	0.22205	.	.	ENSG00000184210	ENST00000333026	D	0.93247	-3.19	4.51	-3.27	0.05048	.	0.430125	0.23470	N	0.047832	D	0.85535	0.5719	L	0.37750	1.13	0.33835	D	0.630692	B	0.13145	0.007	B	0.25884	0.064	T	0.71397	-0.4605	10	0.10902	T	0.67	-23.9824	8.7325	0.34507	0.1408:0.0:0.7474:0.1118	.	188	Q6ZPD8	DG2L6_HUMAN	S	188	ENSP00000328036:A188S	ENSP00000328036:A188S	A	+	1	0	DGAT2L6	69338554	0.252000	0.23972	0.884000	0.34674	0.277000	0.26821	0.699000	0.25586	-1.140000	0.02877	-1.350000	0.01237	GCT		0.537	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		9	62	1	0	7.48243e-07	0.006214	8.70683e-07	9	62				
SLC7A3	84889	broad.mit.edu	37	X	70147433	70147433	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:70147433C>A	ENST00000374299.3	-	7	1228	c.1084G>T	c.(1084-1086)Gcg>Tcg	p.A362S	SLC7A3_ENST00000298085.4_Missense_Mutation_p.A362S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	362					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.A362S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGCCATCGCGTAGATCACC	0.587																																							uc004dyn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1084-1086)GCG>TCG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						72.0	49.0	57.0					X																	70147433		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70147433C>A	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1084G>T	X.37:g.70147433C>A	ENSP00000363417:p.Ala362Ser					SLC7A3_uc004dyo.2_Missense_Mutation_p.A362S	p.A362S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			7	1242	-	Renal(35;0.156)		362			Cytoplasmic (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.1084G>T	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653139	0.47362	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.90324	-2.65;-2.65	4.82	3.94	0.45596	Amino acid permease domain (1);	0.048936	0.85682	N	0.000000	D	0.87006	0.6070	L	0.31804	0.96	0.51482	D	0.999924	B	0.31625	0.332	B	0.39706	0.307	D	0.84415	0.0568	10	0.44086	T	0.13	.	12.9011	0.58125	0.1627:0.8373:0.0:0.0	.	362	Q8WY07	CTR3_HUMAN	S	362	ENSP00000363417:A362S;ENSP00000298085:A362S	ENSP00000298085:A362S	A	-	1	0	SLC7A3	70064158	1.000000	0.71417	0.478000	0.27316	0.909000	0.53808	5.790000	0.69038	1.013000	0.39391	0.436000	0.28706	GCG		0.587	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		10	41	1	0	3.86212e-05	0.008291	4.3062e-05	10	41				
ACRC	93953	broad.mit.edu	37	X	70823472	70823472	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:70823472C>A	ENST00000373695.1	+	7	882	c.345C>A	c.(343-345)gcC>gcA	p.A115A	ACRC_ENST00000373696.3_Silent_p.A115A			Q96QF7	ACRC_HUMAN	acidic repeat containing	115						nucleus (GO:0005634)		p.A115A(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGAAGCCTGCCATCCAGGAAC	0.413																																							uc004eae.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(343-345)GCC>GCA		ACRC protein							145.0	133.0	137.0					X																	70823472		2203	4300	6503	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70823472C>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.345C>A	X.37:g.70823472C>A						BCYRN1_uc011mpt.1_Intron	p.A115A	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	846	+	Renal(35;0.156)		115					B9EG62	Silent	SNP	ENST00000373695.1	37	c.345C>A	CCDS35326.1																																																																																				0.413	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			46	258	1	0	3.54909e-21	0.011902	5.20967e-21	46	258				
ACRC	93953	broad.mit.edu	37	X	70832808	70832808	+	Silent	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:70832808G>C	ENST00000373695.1	+	12	2589	c.2052G>C	c.(2050-2052)ggG>ggC	p.G684G	ACRC_ENST00000373696.3_Silent_p.G684G			Q96QF7	ACRC_HUMAN	acidic repeat containing	684						nucleus (GO:0005634)		p.G684G(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGAAAGATGGGACCCGTATTG	0.488																																							uc004eae.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2050-2052)GGG>GGC		ACRC protein							133.0	114.0	120.0					X																	70832808		2203	4300	6503	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70832808G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.2052G>C	X.37:g.70832808G>C						BCYRN1_uc011mpt.1_Intron	p.G684G	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			13	2553	+	Renal(35;0.156)		684					B9EG62	Silent	SNP	ENST00000373695.1	37	c.2052G>C	CCDS35326.1																																																																																				0.488	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			20	120	0	0	0	0.012319	0	20	120				
NHSL2	340527	broad.mit.edu	37	X	71359765	71359765	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:71359765C>T	ENST00000373677.1	+	2	2531	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	NHSL2_ENST00000540800.1_Silent_p.S789S|NHSL2_ENST00000535692.1_Silent_p.S423S|NHSL2_ENST00000510661.1_Silent_p.S558S			Q5HYW2	NHSL2_HUMAN	NHS-like 2	423	Ser-rich.							p.S420S(1)|p.S789S(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TGAGTATCTCCATCCGAAGCA	0.502																																							uc011mqa.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2365-2367)TCC>TCT		NHS-like 2							112.0	85.0	94.0					X																	71359765		2203	4300	6503	SO:0001819	synonymous_variant	340527							g.chrX:71359765C>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1269C>T	X.37:g.71359765C>T						NHSL2_uc004eak.1_Silent_p.S423S|NHSL2_uc010nli.2_Silent_p.S558S	p.S789S	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN			6	2367	+	Renal(35;0.156)		789					B2RN94	Silent	SNP	ENST00000373677.1	37	c.2367C>T																																																																																					0.502	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		6	67	0	0	0	0.001984	0	6	67				
ATRX	546	broad.mit.edu	37	X	76845335	76845335	+	Silent	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:76845335T>A	ENST00000373344.5	-	27	6400	c.6186A>T	c.(6184-6186)acA>acT	p.T2062T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.T2024T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2062	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.T2062T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTTATCTTCTGTCTTCTCCC	0.308			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - coding silent(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(6184-6186)ACA>ACT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						57.0	55.0	56.0					X																	76845335		2203	4293	6496	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76845335T>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6186A>T	X.37:g.76845335T>A						ATRX_uc004ecq.3_Silent_p.T2024T|ATRX_uc004eco.3_Silent_p.T1847T	p.T2062T	NM_000489	NP_000480	P46100	ATRX_HUMAN			27	6418	-			2062			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.6186A>T	CCDS14434.1																																																																																				0.308	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	25	0	0	0	0.007413	0	17	25				
BRWD3	254065	broad.mit.edu	37	X	79932535	79932535	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:79932535C>G	ENST00000373275.4	-	41	5198	c.4982G>C	c.(4981-4983)gGa>gCa	p.G1661A	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1661	Gly-rich.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.G1661A(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTTCTTTTTCCATTGCCATG	0.458																																							uc004edt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4981-4983)GGA>GCA		bromodomain and WD repeat domain containing 3							293.0	260.0	271.0					X																	79932535		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932535C>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4982G>C	X.37:g.79932535C>G	ENSP00000362372:p.Gly1661Ala					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G1257A|BRWD3_uc004edp.2_Missense_Mutation_p.G1490A|BRWD3_uc004edq.2_Missense_Mutation_p.G1257A|BRWD3_uc010nmj.1_Missense_Mutation_p.G1257A|BRWD3_uc004edr.2_Missense_Mutation_p.G1331A|BRWD3_uc004eds.2_Missense_Mutation_p.G1257A|BRWD3_uc004edu.2_Missense_Mutation_p.G1331A|BRWD3_uc004edv.2_Missense_Mutation_p.G1257A|BRWD3_uc004edw.2_Missense_Mutation_p.G1257A|BRWD3_uc004edx.2_Missense_Mutation_p.G1257A|BRWD3_uc004edy.2_Missense_Mutation_p.G1257A|BRWD3_uc004edz.2_Missense_Mutation_p.G1331A|BRWD3_uc004eea.2_Missense_Mutation_p.G1331A|BRWD3_uc004eeb.2_Missense_Mutation_p.G1257A|uc004edn.1_5'Flank	p.G1661A	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			41	5245	-			1661			Gly-rich.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4982G>C	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	0.794	-0.757952	0.03019	.	.	ENSG00000165288	ENST00000373275	T	0.74947	-0.89	4.58	4.58	0.56647	.	0.606235	0.16370	N	0.217378	T	0.53562	0.1804	N	0.08118	0	0.35232	D	0.777017	B	0.12013	0.005	B	0.11329	0.006	T	0.56498	-0.7969	9	.	.	.	-12.1934	12.5292	0.56104	0.0:0.8366:0.1633:0.0	.	1661	Q6RI45	BRWD3_HUMAN	A	1661	ENSP00000362372:G1661A	.	G	-	2	0	BRWD3	79819191	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.371000	0.59523	2.112000	0.64535	0.506000	0.49869	GGA		0.458	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		15	341	0	0	0	0.007413	0	15	341				
BRWD3	254065	broad.mit.edu	37	X	79939515	79939515	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:79939515C>A	ENST00000373275.4	-	37	4443	c.4227G>T	c.(4225-4227)aaG>aaT	p.K1409N	BRWD3_ENST00000473691.1_Intron	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1409	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.K1409N(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATACCCTTGACTTTTTATTAG	0.338																																							uc004edt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4225-4227)AAG>AAT		bromodomain and WD repeat domain containing 3							80.0	78.0	79.0					X																	79939515		2202	4299	6501	SO:0001583	missense	254065							g.chrX:79939515C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4227G>T	X.37:g.79939515C>A	ENSP00000362372:p.Lys1409Asn					BRWD3_uc010nmi.1_Intron|BRWD3_uc004edo.2_Missense_Mutation_p.K1005N|BRWD3_uc004edp.2_Missense_Mutation_p.K1238N|BRWD3_uc004edq.2_Missense_Mutation_p.K1005N|BRWD3_uc010nmj.1_Missense_Mutation_p.K1005N|BRWD3_uc004edr.2_Missense_Mutation_p.K1079N|BRWD3_uc004eds.2_Missense_Mutation_p.K1005N|BRWD3_uc004edu.2_Missense_Mutation_p.K1079N|BRWD3_uc004edv.2_Missense_Mutation_p.K1005N|BRWD3_uc004edw.2_Missense_Mutation_p.K1005N|BRWD3_uc004edx.2_Missense_Mutation_p.K1005N|BRWD3_uc004edy.2_Missense_Mutation_p.K1005N|BRWD3_uc004edz.2_Missense_Mutation_p.K1079N|BRWD3_uc004eea.2_Missense_Mutation_p.K1079N|BRWD3_uc004eeb.2_Missense_Mutation_p.K1005N	p.K1409N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			37	4490	-			1409			Bromo 2.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4227G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473625	0.63737	.	.	ENSG00000165288	ENST00000373275	T	0.17213	2.29	4.66	0.915	0.19366	Bromodomain (6);	0.046313	0.85682	N	0.000000	T	0.26159	0.0638	L	0.45581	1.43	0.39883	D	0.973668	D	0.57571	0.98	P	0.62740	0.906	T	0.01165	-1.1431	9	.	.	.	-6.3035	8.658	0.34075	0.0:0.4954:0.0:0.5046	.	1409	Q6RI45	BRWD3_HUMAN	N	1409	ENSP00000362372:K1409N	.	K	-	3	2	BRWD3	79826171	0.759000	0.28416	0.997000	0.53966	0.986000	0.74619	-0.042000	0.12063	-0.136000	0.11475	0.502000	0.49764	AAG		0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		13	28	1	0	1.5842e-08	0.001855	1.94978e-08	13	28				
CPXCR1	53336	broad.mit.edu	37	X	88008550	88008550	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:88008550A>T	ENST00000276127.4	+	3	394	c.135A>T	c.(133-135)gaA>gaT	p.E45D	CPXCR1_ENST00000373111.1_Missense_Mutation_p.E45D	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	45							metal ion binding (GO:0046872)	p.E45D(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATCAGGTAGAAACCAACCCAA	0.448																																							uc004efd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(133-135)GAA>GAT		CPX chromosome region, candidate 1							45.0	42.0	43.0					X																	88008550		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008550A>T	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.135A>T	X.37:g.88008550A>T	ENSP00000276127:p.Glu45Asp					CPXCR1_uc004efc.3_Missense_Mutation_p.E45D	p.E45D	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	394	+			45					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.135A>T	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	8.385	0.838429	0.16891	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.24723	1.84;1.84	3.43	-0.722	0.11184	.	0.793563	0.10633	N	0.651949	T	0.13500	0.0327	L	0.27053	0.805	0.09310	N	1	B	0.15930	0.015	B	0.17433	0.018	T	0.33085	-0.9882	9	.	.	.	.	2.5268	0.04693	0.4398:0.0:0.1313:0.4289	.	45	Q8N123	CPXCR_HUMAN	D	45	ENSP00000276127:E45D;ENSP00000362203:E45D	.	E	+	3	2	CPXCR1	87895206	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.317000	0.19487	-0.225000	0.09913	-0.321000	0.08615	GAA		0.448	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		7	19	0	0	0	0.001984	0	7	19				
CENPI	2491	broad.mit.edu	37	X	100403112	100403113	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:100403112_100403113CC>AA	ENST00000372927.1	+	19	2333_2334	c.2056_2057CC>AA	c.(2056-2058)CCt>AAt	p.P686N	CENPI_ENST00000218507.5_Missense_Mutation_p.P686N|CENPI_ENST00000423383.1_Missense_Mutation_p.P686N	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	686					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.P686N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGTCCATCATCCTTCTTTCTTG	0.351																																							uc004egx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2056-2058)CCT>AAT		centromere protein I																																				SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100403112_100403113CC>AA	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	Exception_encountered	X.37:g.100403112_100403113delinsAA	ENSP00000362018:p.Pro686Asn					CENPI_uc011mrg.1_Missense_Mutation_p.P686N	p.P686N	NM_006733	NP_006724	Q92674	CENPI_HUMAN			19	2326_2327	+			686					Q5JWZ9|Q96ED0	Missense_Mutation	DNP	ENST00000372927.1	37	c.2056_2057CC>AA	CCDS14479.1																																																																																				0.351	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		31	155	0	0	0	0.004672	0	31	155				
BTK	695	broad.mit.edu	37	X	100613365	100613365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:100613365G>T	ENST00000308731.7	-	12	1198	c.1035C>A	c.(1033-1035)taC>taA	p.Y345*	BTK_ENST00000372880.1_Nonsense_Mutation_p.Y345*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	345	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.Y345*(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTCAGCCAGGTAATACTGGC	0.498									Agammaglobulinemia, X-linked																														uc004ehg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(1033-1035)TAC>TAA		Bruton agammaglobulinemia tyrosine kinase							205.0	169.0	181.0					X																	100613365		2203	4300	6503	SO:0001587	stop_gained	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100613365G>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1035C>A	X.37:g.100613365G>T	ENSP00000308176:p.Tyr345*					BTK_uc004ehf.2_5'UTR|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_RNA|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc010nnn.2_Nonsense_Mutation_p.Y345*|BTK_uc010nno.2_Nonsense_Mutation_p.Y379*|BTK_uc004ehh.1_RNA|BTK_uc004ehi.2_Nonsense_Mutation_p.Y345*	p.Y345*	NM_000061	NP_000052	Q06187	BTK_HUMAN			12	1228	-			345			SH2.		B2RAW1|Q32ML5	Nonsense_Mutation	SNP	ENST00000308731.7	37	c.1035C>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	41	8.816918	0.98964	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000395179;ENST00000372869;ENST00000443591;ENST00000308731;ENST00000540426	.	.	.	6.06	2.93	0.34026	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0427	0.42169	0.3208:0.0:0.6792:0.0	.	.	.	.	X	345;16;16;14;16;16;16;345;15	.	ENSP00000308176:Y345X	Y	-	3	2	BTK	100500021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.010000	0.40913	0.678000	0.31325	0.600000	0.82982	TAC		0.498	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		68	305	1	0	9.65139e-37	0.01441	1.57574e-36	68	305				
TCEAL3	85012	broad.mit.edu	37	X	102864328	102864328	+	Silent	SNP	A	A	G	rs377363329		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:102864328A>G	ENST00000372628.1	+	3	694	c.336A>G	c.(334-336)agA>agG	p.R112R	TCEAL3_ENST00000372627.5_Silent_p.R112R|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Silent_p.R112R			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R112R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGCAAAAAGAAAAACGGACA	0.582																																							uc004ekq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)AGA>AGG		transcription elongation factor A (SII)-like 3							117.0	110.0	112.0					X																	102864328		2203	4300	6503	SO:0001819	synonymous_variant	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864328A>G	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.336A>G	X.37:g.102864328A>G						TCEAL3_uc004ekr.2_Silent_p.R112R	p.R112R	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN			3	598	+			112					D3DXA4	Silent	SNP	ENST00000372628.1	37	c.336A>G	CCDS14511.1																																																																																				0.582	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		41	194	0	0	0	0.00874	0	41	194				
RAB9B	51209	broad.mit.edu	37	X	103080712	103080712	+	Start_Codon_SNP	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:103080712C>A	ENST00000243298.2	-	3	287	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	1					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.M1I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						ATTTCCCACTCATTTTTGCAG	0.413																																							uc004ell.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(1-3)ATG>ATT		RAB9B, member RAS oncogene family							111.0	108.0	109.0					X																	103080712		2203	4300	6503	SO:0001582	initiator_codon_variant	51209				Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chrX:103080712C>A	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.3G>T	X.37:g.103080712C>A	ENSP00000243298:p.Met1Ile					RAB9B_uc004eli.1_Intron	p.M1I	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN			3	288	-			1					B2R8M0|Q52LX2	Missense_Mutation	SNP	ENST00000243298.2	37	c.3G>T	CCDS14515.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374211	0.61735	.	.	ENSG00000123570	ENST00000243298	T	0.67523	-0.27	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.84861	0.0819	9	0.87932	D	0	-4.5776	16.5572	0.84488	0.0:1.0:0.0:0.0	.	1	Q9NP90	RAB9B_HUMAN	I	1	ENSP00000243298:M1I	ENSP00000243298:M1I	M	-	3	0	RAB9B	102967368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.084000	0.64462	2.518000	0.84900	0.600000	0.82982	ATG		0.413	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057746.1		Missense_Mutation	34	181	1	0	2.19358e-23	0.005524	3.29552e-23	34	181				
MUM1L1	139221	broad.mit.edu	37	X	105449798	105449798	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:105449798C>A	ENST00000357175.2	+	4	1022	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	MUM1L1_ENST00000337685.2_Missense_Mutation_p.Q125K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.Q125K	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	125						extracellular vesicular exosome (GO:0070062)		p.Q125K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCACAAAAACAGTCCGATTC	0.433																																							uc004emf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(373-375)CAG>AAG		melanoma associated antigen (mutated) 1-like 1							85.0	70.0	75.0					X																	105449798		1889	4099	5988	SO:0001583	missense	139221							g.chrX:105449798C>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.373C>A	X.37:g.105449798C>A	ENSP00000349699:p.Gln125Lys					MUM1L1_uc004emg.1_Missense_Mutation_p.Q125K	p.Q125K	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	1022	+			125					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.373C>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.428921	0.01117	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.28069	1.63;1.63;1.63	4.53	-0.871	0.10642	.	1.146510	0.06771	N	0.783476	T	0.17492	0.0420	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.17433	0.018	T	0.31280	-0.9949	10	0.05436	T	0.98	-0.2425	9.34	0.38074	0.0:0.3521:0.5546:0.0933	.	125	Q5H9M0	MUML1_HUMAN	K	125	ENSP00000349699:Q125K;ENSP00000338641:Q125K;ENSP00000361632:Q125K	ENSP00000338641:Q125K	Q	+	1	0	MUM1L1	105336454	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.184000	0.16939	-0.477000	0.06832	-1.028000	0.02416	CAG		0.433	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		3	42	1	0	0.000602214	0.000602	0.000655471	3	42				
AMOT	154796	broad.mit.edu	37	X	112024258	112024258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:112024258C>A	ENST00000524145.1	-	10	2403	c.2329G>T	c.(2329-2331)Gag>Tag	p.E777*	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Nonsense_Mutation_p.E545*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.E777*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.E368*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.E545*			Q4VCS5	AMOT_HUMAN	angiomotin	777					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.E368*(2)|p.E777*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GACAGCTGCTCTGTCTTGCTC	0.547																																							uc004epr.2		NA																	4	Substitution - Nonsense(4)		large_intestine(2)|lung(2)	ovary(1)	1						c.(2329-2331)GAG>TAG		angiomotin isoform 1							213.0	195.0	201.0					X																	112024258		2203	4300	6503	SO:0001587	stop_gained	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112024258C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2329G>T	X.37:g.112024258C>A	ENSP00000429013:p.Glu777*					AMOT_uc004eps.2_Nonsense_Mutation_p.E368*|AMOT_uc011mtc.1_Nonsense_Mutation_p.E17*|hsa-mir-4329|MI0015901_5'Flank	p.E777*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			9	2329	-			777					Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	37	c.2329G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	41	8.602446	0.98881	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214;ENST00000371958	.	.	.	5.69	5.69	0.88448	.	0.050467	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-18.8749	17.6377	0.88128	0.0:1.0:0.0:0.0	.	.	.	.	X	368;777;545;777;17;545	.	ENSP00000305557:E368X	E	-	1	0	AMOT	111910914	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.381000	0.81170	0.600000	0.82982	GAG		0.547	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		146	232	1	0	1.01383e-91	0.01441	1.75365e-91	146	232				
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																							uc004epr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1180-1182)CAG>CAA		angiomotin isoform 1							38.0	34.0	36.0					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_uc004eps.2_5'UTR|AMOT_uc004ept.1_Silent_p.Q394Q	p.Q394Q	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			2	1182	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	47	0	0	0	0.004672	0	3	47				
KLHL13	90293	broad.mit.edu	37	X	117033333	117033333	+	Silent	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:117033333T>C	ENST00000262820.3	-	7	2415	c.1506A>G	c.(1504-1506)caA>caG	p.Q502Q	KLHL13_ENST00000541812.1_Silent_p.Q486Q|KLHL13_ENST00000539496.1_Silent_p.Q505Q|KLHL13_ENST00000371878.1_Silent_p.Q451Q|KLHL13_ENST00000371876.1_Silent_p.Q451Q|KLHL13_ENST00000469946.1_Silent_p.Q451Q|KLHL13_ENST00000540167.1_Silent_p.Q486Q|KLHL13_ENST00000545703.1_Silent_p.Q460Q|KLHL13_ENST00000371882.1_Silent_p.Q451Q	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	502					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.Q502Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGAGCTCCTTTTGGAAAGTAT	0.388																																							uc004eql.2		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)|skin(1)	2						c.(1504-1506)CAA>CAG		kelch-like 13							169.0	166.0	167.0					X																	117033333		2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033333T>C	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1506A>G	X.37:g.117033333T>C						KLHL13_uc004eqk.2_Silent_p.Q451Q|KLHL13_uc011mtn.1_Silent_p.Q342Q|KLHL13_uc011mto.1_Silent_p.Q496Q|KLHL13_uc011mtp.1_Silent_p.Q504Q|KLHL13_uc004eqm.2_Silent_p.Q451Q|KLHL13_uc011mtq.1_Silent_p.Q486Q	p.Q502Q	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN			7	1568	-			502			Kelch 4.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.1506A>G	CCDS14571.1																																																																																				0.388	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		34	232	0	0	0	0.004289	0	34	232				
RHOXF1	158800	broad.mit.edu	37	X	119249586	119249586	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:119249586C>A	ENST00000217999.2	-	1	261	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	GS1-421I3.4_ENST00000422226.1_lincRNA|RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	63					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D63Y(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						ATGCCGCCATCGCGGTTCATG	0.672																																							uc004esk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(187-189)GAT>TAT		Rhox homeobox family, member 1							51.0	48.0	49.0					X																	119249586		2199	4300	6499	SO:0001583	missense	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249586C>A		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.187G>T	X.37:g.119249586C>A	ENSP00000217999:p.Asp63Tyr					uc004esi.1_Intron	p.D63Y	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN			1	262	-			63					O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	c.187G>T	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.690548	0.00100	.	.	ENSG00000101883	ENST00000217999	D	0.90732	-2.72	1.12	-2.24	0.06909	.	.	.	.	.	T	0.73869	0.3642	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	9	0.18710	T	0.47	2.7718	1.6036	0.02679	0.1935:0.4523:0.1891:0.1652	.	63	Q8NHV9	RHXF1_HUMAN	Y	63	ENSP00000217999:D63Y	ENSP00000217999:D63Y	D	-	1	0	RHOXF1	119133614	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.443000	0.06862	-3.787000	0.00107	-4.176000	0.00010	GAT		0.672	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		26	49	1	0	4.00102e-26	0.00623	6.12596e-26	26	49				
IGSF1	3547	broad.mit.edu	37	X	130420644	130420644	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:130420644G>T	ENST00000361420.3	-	2	84	c.5C>A	c.(4-6)aCc>aAc	p.T2N	IGSF1_ENST00000370900.1_Missense_Mutation_p.T2N|IGSF1_ENST00000370910.1_Missense_Mutation_p.T2N|IGSF1_ENST00000370904.1_Missense_Mutation_p.T2N|IGSF1_ENST00000370903.3_Missense_Mutation_p.T2N|IGSF1_ENST00000370901.4_Missense_Mutation_p.T2N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	2					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.T2N(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCTGTCCAGGGTCATGGGGCC	0.522																																							uc004ewd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(4-6)ACC>AAC		immunoglobulin superfamily, member 1 isoform 1							66.0	54.0	58.0					X																	130420644		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130420644G>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.5C>A	X.37:g.130420644G>T	ENSP00000355010:p.Thr2Asn					IGSF1_uc004ewe.3_5'UTR|IGSF1_uc004ewf.2_5'UTR|IGSF1_uc004ewg.2_Missense_Mutation_p.T2N	p.T2N	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			2	243	-			2					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.5C>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000235	0.35320	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903;ENST00000370901;ENST00000370900	T;T;T;T;T;T	0.00705	5.84;5.84;5.84;5.81;6.33;6.33	4.11	-0.79	0.10932	.	1.672240	0.03370	N	0.198857	T	0.00724	0.0024	N	0.19112	0.55	0.09310	N	1	B;B	0.25609	0.13;0.037	B;B	0.24155	0.051;0.007	T	0.46400	-0.9194	10	0.42905	T	0.14	.	4.1736	0.10341	0.4509:0.1827:0.3664:0.0	.	2;2	Q8N6C5-3;Q8N6C5	.;IGSF1_HUMAN	N	2	ENSP00000359947:T2N;ENSP00000355010:T2N;ENSP00000359941:T2N;ENSP00000359940:T2N;ENSP00000359938:T2N;ENSP00000359937:T2N	ENSP00000355010:T2N	T	-	2	0	IGSF1	130248325	0.006000	0.16342	0.000000	0.03702	0.011000	0.07611	0.223000	0.17719	-0.330000	0.08514	-0.342000	0.07992	ACC		0.522	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			47	60	1	0	4.57556e-38	0.013114	7.54732e-38	47	60				
BRS3	680	broad.mit.edu	37	X	135574142	135574142	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:135574142G>T	ENST00000370648.3	+	3	1036	c.808G>T	c.(808-810)Gcc>Tcc	p.A270S		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	270					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.A270S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAAGAGAATTGCCAGAACGGT	0.363																																							uc004ezv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(808-810)GCC>TCC		bombesin-like receptor 3							136.0	107.0	117.0					X																	135574142		2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135574142G>T		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.808G>T	X.37:g.135574142G>T	ENSP00000359682:p.Ala270Ser						p.A270S	NM_001727	NP_001718	P32247	BRS3_HUMAN			3	957	+	Acute lymphoblastic leukemia(192;0.000127)		270			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370648.3	37	c.808G>T	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956956	0.92726	.	.	ENSG00000102239	ENST00000370648	T	0.74315	-0.83	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	M	0.80508	2.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.84507	0.0620	10	0.30078	T	0.28	-13.5203	19.7362	0.96205	0.0:0.0:1.0:0.0	.	270	P32247	BRS3_HUMAN	S	270	ENSP00000359682:A270S	ENSP00000359682:A270S	A	+	1	0	BRS3	135401808	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.618000	0.88619	0.600000	0.82982	GCC		0.363	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		12	185	1	0	2.80697e-09	0.010729	3.46808e-09	12	185				
VGLL1	51442	broad.mit.edu	37	X	135630900	135630900	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:135630900G>T	ENST00000370634.3	+	3	537	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.A123S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GGCTAGGAGGGCCTCTGTTCG	0.607																																							uc004ezy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GCC>TCC		vestigial like 1							225.0	178.0	194.0					X																	135630900		2203	4300	6503	SO:0001583	missense	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135630900G>T	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.367G>T	X.37:g.135630900G>T	ENSP00000359668:p.Ala123Ser					MIR934_hsa-mir-934|MI0005756_5'Flank	p.A123S	NM_016267	NP_057351	Q99990	VGLL1_HUMAN			3	537	+	Acute lymphoblastic leukemia(192;0.000127)		123					Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	c.367G>T	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.440|3.440	-0.114241|-0.114241	0.06881|0.06881	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634|ENST00000440515	T|.	0.43688|.	0.94|.	5.68|5.68	2.92|2.92	0.33932|0.33932	.|.	0.905861|.	0.09725|.	N|.	0.763938|.	T|T	0.10723|0.10723	0.0262|0.0262	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.29549|0.29549	-1.0008|-1.0008	10|5	0.30854|.	T|.	0.27|.	-0.2115|-0.2115	3.762|3.762	0.08607|0.08607	0.1634:0.5779:0.1665:0.0922|0.1634:0.5779:0.1665:0.0922	.|.	123|.	Q99990|.	VGLL1_HUMAN|.	S|V	123|87	ENSP00000359668:A123S|.	ENSP00000359668:A123S|.	A|G	+|+	1|2	0|0	VGLL1|VGLL1	135458566|135458566	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.033000|0.033000	0.12548|0.12548	-0.175000|-0.175000	0.09825|0.09825	0.189000|0.189000	0.20188|0.20188	-0.347000|-0.347000	0.07816|0.07816	GCC|GGC		0.607	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		87	362	1	0	1.19347e-43	0.01441	2.01006e-43	87	362				
AFF2	2334	broad.mit.edu	37	X	148048333	148048333	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:148048333C>A	ENST00000370460.2	+	14	3406	c.2927C>A	c.(2926-2928)cCa>cAa	p.P976Q	AFF2_ENST00000342251.3_Missense_Mutation_p.P943Q|AFF2_ENST00000286437.5_Missense_Mutation_p.P617Q|AFF2_ENST00000370457.5_Missense_Mutation_p.P941Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	976					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.P976Q(2)|p.P617Q(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGACACTCCAAAAAAGGCA	0.453																																							uc004fcp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(2926-2928)CCA>CAA		fragile X mental retardation 2							153.0	120.0	131.0					X																	148048333		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048333C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2927C>A	X.37:g.148048333C>A	ENSP00000359489:p.Pro976Gln					AFF2_uc004fcq.2_Missense_Mutation_p.P966Q|AFF2_uc004fcr.2_Missense_Mutation_p.P937Q|AFF2_uc011mxb.1_Missense_Mutation_p.P941Q|AFF2_uc004fcs.2_Missense_Mutation_p.P941Q|AFF2_uc011mxc.1_Missense_Mutation_p.P617Q	p.P976Q	NM_002025	NP_002016	P51816	AFF2_HUMAN			14	3406	+	Acute lymphoblastic leukemia(192;6.56e-05)		976					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2927C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607000	0.28623	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.69	1.55	0.23275	.	1.448490	0.04003	N	0.296844	T	0.68109	0.2965	N	0.22421	0.69	0.09310	N	0.999998	B;B;D;D;D;D	0.76494	0.0;0.0;0.999;0.999;0.999;0.999	B;B;D;D;D;D	0.87578	0.003;0.002;0.996;0.996;0.996;0.998	T	0.57728	-0.7761	10	0.46703	T	0.11	.	9.1264	0.36818	0.5802:0.4198:0.0:0.0	.	617;941;941;937;966;976	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	976;941;943;617	ENSP00000359489:P976Q;ENSP00000359486:P941Q;ENSP00000345459:P943Q;ENSP00000286437:P617Q	ENSP00000286437:P617Q	P	+	2	0	AFF2	147856027	0.293000	0.24371	0.653000	0.29593	0.440000	0.31957	0.249000	0.18216	0.433000	0.26313	-0.364000	0.07487	CCA		0.453	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		37	141	1	0	1.52319e-26	0.00874	2.35468e-26	37	141				
MAGEA4	4103	broad.mit.edu	37	X	151092363	151092363	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:151092363T>A	ENST00000360243.2	+	3	494	c.227T>A	c.(226-228)aTc>aAc	p.I76N	MAGEA4_ENST00000370337.4_Missense_Mutation_p.I76N|MAGEA4_ENST00000370340.3_Missense_Mutation_p.I76N|MAGEA4_ENST00000370335.1_Missense_Mutation_p.I76N|MAGEA4_ENST00000393921.1_Missense_Mutation_p.I76N|MAGEA4_ENST00000393920.1_Missense_Mutation_p.I76N|MAGEA4_ENST00000276344.2_Missense_Mutation_p.I76N	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	76								p.I76N(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACTACCATCAGCTTCACT	0.607																																							uc004fez.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(226-228)ATC>AAC		melanoma antigen family A, 4							85.0	79.0	81.0					X																	151092363		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092363T>A		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.227T>A	X.37:g.151092363T>A	ENSP00000353379:p.Ile76Asn					MAGEA4_uc004ffa.2_Missense_Mutation_p.I76N|MAGEA4_uc004ffb.2_Missense_Mutation_p.I76N|MAGEA4_uc004ffc.2_Missense_Mutation_p.I76N|MAGEA4_uc004ffd.2_Missense_Mutation_p.I76N	p.I76N	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	383	+	Acute lymphoblastic leukemia(192;6.56e-05)		76					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.227T>A	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	T	6.997	0.554198	0.13374	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52	2.3	-0.103	0.13609	Melanoma associated antigen, MAGE, N-terminal (1);	5.387420	0.00357	N	0.000020	T	0.08133	0.0203	L	0.51853	1.615	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.36720	-0.9736	10	0.44086	T	0.13	.	4.1719	0.10334	0.0:0.3884:0.0:0.6116	.	76	P43358	MAGA4_HUMAN	N	76	ENSP00000387777:I76N;ENSP00000276344:I76N;ENSP00000391904:I76N;ENSP00000377498:I76N;ENSP00000394149:I76N;ENSP00000359362:I76N;ENSP00000402624:I76N;ENSP00000377497:I76N;ENSP00000359365:I76N;ENSP00000394073:I76N;ENSP00000400900:I76N;ENSP00000402186:I76N;ENSP00000359360:I76N;ENSP00000353379:I76N;ENSP00000390096:I76N	ENSP00000276344:I76N	I	+	2	0	MAGEA4	150843019	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.289000	0.08365	-0.110000	0.12022	0.356000	0.21956	ATC		0.607	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		28	116	0	0	0	0.010818	0	28	116				
NSDHL	50814	broad.mit.edu	37	X	152034484	152034484	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:152034484G>T	ENST00000370274.3	+	6	859	c.665G>T	c.(664-666)gGc>gTc	p.G222V	NSDHL_ENST00000440023.1_Missense_Mutation_p.G222V	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	222					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.G222V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGAACGGCAAGATGAAG	0.567																																							uc004fgt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(664-666)GGC>GTC		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						106.0	95.0	99.0					X																	152034484		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152034484G>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.665G>T	X.37:g.152034484G>T	ENSP00000359297:p.Gly222Val					NSDHL_uc004fgs.1_Missense_Mutation_p.G222V	p.G222V	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN			7	926	+	Acute lymphoblastic leukemia(192;6.56e-05)		222					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.665G>T	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049510	0.75846	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.90955	-2.76;-2.76;-2.76	5.61	5.61	0.85477	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96543	0.8872	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97418	1.0007	10	0.72032	D	0.01	-0.8648	15.9673	0.79984	0.0:0.0:1.0:0.0	.	222	Q15738	NSDHL_HUMAN	V	222	ENSP00000359297:G222V;ENSP00000391854:G222V;ENSP00000396266:G222V	ENSP00000359297:G222V	G	+	2	0	NSDHL	151785140	1.000000	0.71417	0.995000	0.50966	0.382000	0.30200	9.866000	0.99616	2.370000	0.80446	0.525000	0.51046	GGC		0.567	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		21	203	1	0	5.35356e-11	0.00278	6.9924e-11	21	203				
PLXNA3	55558	broad.mit.edu	37	X	153695419	153695419	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:153695419G>C	ENST00000369682.3	+	18	3302	c.3127G>C	c.(3127-3129)Gtg>Ctg	p.V1043L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1043	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.V1043L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCATCACTGTGAGTGGGAC	0.662																																							uc004flm.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(3127-3129)GTG>CTG		plexin A3 precursor							73.0	69.0	70.0					X																	153695419		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153695419G>C	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3127G>C	X.37:g.153695419G>C	ENSP00000358696:p.Val1043Leu						p.V1043L	NM_017514	NP_059984	P51805	PLXA3_HUMAN			18	3300	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1043			IPT/TIG 3.|Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3127G>C	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943587	0.92593	.	.	ENSG00000130827	ENST00000369682	T	0.60797	0.16	5.8	5.8	0.92144	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	M	0.78049	2.395	0.80722	D	1	D	0.67145	0.996	D	0.66084	0.941	T	0.79386	-0.1825	10	0.87932	D	0	.	17.6415	0.88138	0.0:0.0:1.0:0.0	.	1043	P51805	PLXA3_HUMAN	L	1043	ENSP00000358696:V1043L	ENSP00000358696:V1043L	V	+	1	0	PLXNA3	153348613	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.685000	0.68204	2.438000	0.82558	0.600000	0.82982	GTG		0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		18	104	0	0	0	0.007413	0	18	104				
F8	2157	broad.mit.edu	37	X	154225290	154225290	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:154225290T>G	ENST00000360256.4	-	3	546	c.346A>C	c.(346-348)Agt>Cgt	p.S116R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	116	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S116R(2)		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)	GCATGAAGACTGACAGGATGG	0.443																																							uc004fmt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(346-348)AGT>CGT		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						243.0	204.0	217.0					X																	154225290		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:154225290T>G	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.346A>C	X.37:g.154225290T>G	ENSP00000353393:p.Ser116Arg					F8_uc011mzx.1_Missense_Mutation_p.S81R	p.S116R	NM_000132	NP_000123	P00451	FA8_HUMAN			3	517	-	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)		116			Plastocyanin-like 1.|F5/8 type A 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.346A>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127049	0.77549	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99292	-5.7;-5.7;-5.7	5.03	5.03	0.67393	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.083573	0.85682	D	0.000000	D	0.99569	0.9845	H	0.97240	3.965	0.36534	D	0.870908	D;D	0.71674	0.998;0.998	D;D	0.69824	0.966;0.943	D	0.99050	1.0827	10	0.87932	D	0	-13.2592	10.1994	0.43073	0.0:0.0:0.0:1.0	.	81;116	B1B0G8;P00451	.;FA8_HUMAN	R	116;81;110	ENSP00000353393:S116R;ENSP00000409446:S81R;ENSP00000389153:S110R	ENSP00000353393:S116R	S	-	1	0	F8	153878484	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.462000	0.73526	1.674000	0.50907	0.356000	0.21956	AGT		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			6	280	0	0	0	0.004482	0	6	280				
MACF1	23499	broad.mit.edu	37	1	39827187	39827187	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:39827187delG	ENST00000372915.3	+	48	12711	c.12624delG	c.(12622-12624)cagfs	p.Q4210fs	MACF1_ENST00000539005.1_Frame_Shift_Del_p.Q2143fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.Q2143fs|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Frame_Shift_Del_p.Q4242fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.Q2645fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.Q2143fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.Q4205fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.Q2143fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4210					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTGTCTACAGCAGCAAGAAA	0.517																																							uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(7927-7929)CAGfs		microfilament and actin filament cross-linker							76.0	76.0	76.0					1																	39827187		2203	4300	6503	SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39827187delG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12624delG	1.37:g.39827187delG	ENSP00000362006:p.Gln4210fs					MACF1_uc010ois.1_Frame_Shift_Del_p.Q2141fs|MACF1_uc001cda.1_Frame_Shift_Del_p.Q2049fs|MACF1_uc001cdc.1_Frame_Shift_Del_p.Q1228fs|MACF1_uc001cdb.1_Frame_Shift_Del_p.Q1228fs	p.Q2643fs	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	8060	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4208					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	ENST00000372915.3	37	c.7929delG																																																																																					0.517	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		13	114	NA	NA	NA	NA	NA	13	114	---	---	---	---
SFR1	119392	broad.mit.edu	37	10	105883551	105883553	+	In_Frame_Del	DEL	TTA	TTA	-	rs200476133		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	TTA	TTA	-	-	TTA	TTA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:105883551_105883553delTTA	ENST00000369727.3	+	3	234_236	c.215_217delTTA	c.(214-219)cttaaa>caa	p.72_73LK>Q	SFR1_ENST00000336358.5_In_Frame_Del_p.134_135LK>Q|SFR1_ENST00000369729.3_In_Frame_Del_p.59_60LK>Q	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	72					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GTGAAACGTCTTAAAGTAGAGAG	0.33																																							uc001kxu.2		NA																	0					0						c.(214-219)CTTAAA>CAA		hypothetical protein LOC119392 isoform a																																				SO:0001651	inframe_deletion	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105883551_105883553delTTA	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.215_217delTTA	10.37:g.105883551_105883553delTTA	ENSP00000358742:p.Leu72_Lys73delinsGln					C10orf78_uc001kxs.2_In_Frame_Del_p.59_60LK>Q|C10orf78_uc001kxt.2_In_Frame_Del_p.26_27LK>Q|C10orf78_uc001kxv.2_In_Frame_Del_p.134_135LK>Q	p.72_73LK>Q	NM_001002759	NP_001002759	Q86XK3	SFR1_HUMAN		Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014)	3	228_230	+		Colorectal(252;0.102)|Breast(234;0.122)	72_73					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	In_Frame_Del	DEL	ENST00000369727.3	37	c.215_217delTTA	CCDS31279.1																																																																																				0.330	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		15	94	NA	NA	NA	NA	NA	15	94	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020560	5020561	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:5020560_5020561insT	ENST00000321543.1	+	1	348_349	c.348_349insT	c.(349-351)ttgfs	p.L117fs		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCTCAGTGTTGCTGGCCAT	0.5																																							uc010qyu.1		NA																	0				skin(1)	1						c.(346-351)GTGTTGfs		olfactory receptor, family 51, subfamily L,																																				SO:0001589	frameshift_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020560_5020561insT	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.350dupT	11.37:g.5020562_5020562dupT	ENSP00000322156:p.Leu117fs						p.V116fs	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	348_349	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	116_117			Helical; Name=3; (Potential).		Q6IFE5	Frame_Shift_Ins	INS	ENST00000321543.1	37	c.348_349insT	CCDS31369.1																																																																																				0.500	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		76	154	NA	NA	NA	NA	NA	76	154	---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101876581	101876581	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:101876581delG	ENST00000551346.1	+	5	381	c.222delG	c.(220-222)gcgfs	p.A74fs	SPIC_ENST00000299272.5_Frame_Shift_Del_p.A74fs			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	74					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACAGTGCTGCGGACTTCTATT	0.413																																							uc001tid.2		NA																	0				skin(1)	1						c.(220-222)GCGfs		Spi-C transcription factor (Spi-1/PU.1 related)							133.0	148.0	143.0					12																	101876581		2203	4300	6503	SO:0001589	frameshift_variant	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101876581delG	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.222delG	12.37:g.101876581delG	ENSP00000448580:p.Ala74fs					SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Frame_Shift_Del_p.A73fs	p.A74fs	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			5	381	+			74						Frame_Shift_Del	DEL	ENST00000551346.1	37	c.222delG	CCDS9082.1																																																																																				0.413	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		51	263	NA	NA	NA	NA	NA	51	263	---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35782216	35782216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:35782216delA	ENST00000261479.4	+	5	659	c.539delA	c.(538-540)gaafs	p.E180fs	PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCTTCCTTGAAAAAAAAGTG	0.403																																							uc001wtd.2		NA																	0					0						c.(538-540)GAAfs		proteasome alpha 6 subunit							102.0	111.0	108.0					14																	35782216		2203	4300	6503	SO:0001589	frameshift_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35782216delA	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.539delA	14.37:g.35782216delA	ENSP00000261479:p.Glu180fs					KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Frame_Shift_Del_p.E101fs|PSMA6_uc010tpu.1_Frame_Shift_Del_p.E101fs	p.E180fs	NM_002791	NP_002782	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	5	648	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		180					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Frame_Shift_Del	DEL	ENST00000261479.4	37	c.539delA	CCDS9655.1																																																																																				0.403	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			12	1516	NA	NA	NA	NA	NA	12	1516	---	---	---	---
TRAPPC6B	122553	broad.mit.edu	37	14	39620949	39620949	+	Splice_Site	DEL	C	C	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:39620949delC	ENST00000330149.5	-	5	672		c.e5+1		TRAPPC6B_ENST00000347691.5_Splice_Site|TRAPPC6B_ENST00000557764.1_Splice_Site	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ATTCAACTTACAAGCAGGCAT	0.308																																							uc001wut.1		NA																	0					0						c.e5+1		trafficking protein particle complex 6B isoform							93.0	93.0	93.0					14																	39620949		2202	4296	6498	SO:0001630	splice_region_variant	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39620949delC	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.445+1G>-	14.37:g.39620949delC						TRAPPC6B_uc001wuu.1_Splice_Site_p.C121_splice|TRAPPC6B_uc001wuv.1_Splice_Site|TRAPPC6B_uc010tqd.1_Splice_Site_p.C87_splice	p.C149_splice	NM_001079537	NP_001073005	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	5	780	-	Hepatocellular(127;0.213)							B3KPS2|Q5JPD6|Q86U35|Q86X35	Splice_Site	DEL	ENST00000330149.5	37	c.445_splice	CCDS41947.1																																																																																				0.308	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452	Intron	25	252	NA	NA	NA	NA	NA	25	252	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11332269	11332273	+	Splice_Site	DEL	ATTAC	ATTAC	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	ATTAC	ATTAC	-	-	ATTAC	ATTAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:11332269_11332273delATTAC	ENST00000315872.6	-	32	4612		c.e32+1		ROCK2_ENST00000401753.1_Splice_Site	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|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 circadian rhythm (GO:0042752)|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)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATTTTAGTTTATTACCTAGGTTTGT	0.341																																							uc002rbd.1		NA																	0				stomach(2)|skin(2)	4						c.e32+1		Rho-associated, coiled-coil containing protein																																				SO:0001630	splice_region_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11332269_11332273delATTAC	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.4163+1GTAAT>-	2.37:g.11332269_11332273delATTAC							p.S1388_splice	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	32	4612	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)							Q53QZ0|Q53SJ7|Q9UQN5	Splice_Site	DEL	ENST00000315872.6	37	c.4163_splice	CCDS42654.1																																																																																				0.341	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		Intron	39	118	NA	NA	NA	NA	NA	39	118	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145010135	145010143	+	In_Frame_Del	DEL	CTTGGCCGT	CTTGGCCGT	-	rs372111720		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	CTTGGCCGT	CTTGGCCGT	-	-	CTTGGCCGT	CTTGGCCGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:145010135_145010143delCTTGGCCGT	ENST00000322810.4	-	6	1055_1063	c.886_894delACGGCCAAG	c.(886-894)acggccaagdel	p.TAK296del	PLEC_ENST00000354958.2_In_Frame_Del_p.TAK137del|PLEC_ENST00000354589.3_In_Frame_Del_p.TAK159del|PLEC_ENST00000527096.1_In_Frame_Del_p.TAK186del|PLEC_ENST00000436759.2_In_Frame_Del_p.TAK186del|PLEC_ENST00000345136.3_In_Frame_Del_p.TAK159del|PLEC_ENST00000356346.3_In_Frame_Del_p.TAK145del|PLEC_ENST00000398774.2_In_Frame_Del_p.TAK127del|PLEC_ENST00000357649.2_In_Frame_Del_p.TAK163del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	296	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCTTCTCCTTGGCCGTCATGTCCTCC	0.617																																							uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(886-894)ACGGCCAAGdel		plectin isoform 1																																				SO:0001651	inframe_deletion	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145010135_145010143delCTTGGCCGT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.886_894delACGGCCAAG	8.37:g.145010135_145010143delCTTGGCCGT	ENSP00000323856:p.Thr296_Lys298del					PLEC_uc003zab.1_In_Frame_Del_p.TAK159del|PLEC_uc003zac.1_In_Frame_Del_p.TAK163del|PLEC_uc003zad.2_In_Frame_Del_p.TAK159del|PLEC_uc003zae.1_In_Frame_Del_p.TAK127del|PLEC_uc003zag.1_In_Frame_Del_p.TAK137del|PLEC_uc003zah.2_In_Frame_Del_p.TAK145del|PLEC_uc003zaj.2_In_Frame_Del_p.TAK186del	p.TAK296del	NM_201380	NP_958782	Q15149	PLEC_HUMAN			6	1056_1064	-			296_298			CH 2.|Globular 1.|Actin-binding.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	In_Frame_Del	DEL	ENST00000322810.4	37	c.886_894delACGGCCAAG	CCDS43772.1																																																																																				0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		14	56	NA	NA	NA	NA	NA	14	56	---	---	---	---
TCEAL5	340543	broad.mit.edu	37	X	102528926	102528926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:102528926delC	ENST00000372680.1	-	3	860	c.566delG	c.(565-567)ggafs	p.G189fs		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GCCCCTCACTCCCCTCACACC	0.478																																							uc004ejz.1		NA																	0				lung(1)|breast(1)	2						c.(565-567)GGAfs		transcription elongation factor A (SII)-like 5							132.0	119.0	123.0					X																	102528926		2203	4300	6503	SO:0001589	frameshift_variant	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102528926delC		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.566delG	X.37:g.102528926delC	ENSP00000361765:p.Gly189fs						p.G189fs	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN			3	861	-			189					A2RUJ4	Frame_Shift_Del	DEL	ENST00000372680.1	37	c.566delG	CCDS35356.1																																																																																				0.478	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		48	195	NA	NA	NA	NA	NA	48	195	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	147744260	147744260	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:147744260delC	ENST00000370460.2	+	3	1491	c.1012delC	c.(1012-1014)ccafs	p.P338fs	AFF2_ENST00000370458.1_Frame_Shift_Del_p.P334fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.P334fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.P334fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	338					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GACTAAACTGCCAAAGTTCAC	0.368																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1012-1014)CCAfs		fragile X mental retardation 2							39.0	37.0	38.0					X																	147744260		2201	4295	6496	SO:0001589	frameshift_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147744260delC	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1012delC	X.37:g.147744260delC	ENSP00000359489:p.Pro338fs					AFF2_uc004fco.2_Frame_Shift_Del_p.P334fs|AFF2_uc004fcq.2_Frame_Shift_Del_p.P334fs|AFF2_uc004fcr.2_Frame_Shift_Del_p.P334fs|AFF2_uc011mxb.1_Frame_Shift_Del_p.P338fs|AFF2_uc004fcs.2_Frame_Shift_Del_p.P334fs	p.P338fs	NM_002025	NP_002016	P51816	AFF2_HUMAN			3	1491	+	Acute lymphoblastic leukemia(192;6.56e-05)		338					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Frame_Shift_Del	DEL	ENST00000370460.2	37	c.1012delC	CCDS14684.1																																																																																				0.368	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		15	82	NA	NA	NA	NA	NA	15	82	---	---	---	---
F8	2157	broad.mit.edu	37	X	154221303	154221303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:154221303delG	ENST00000360256.4	-	4	709	c.509delC	c.(508-510)ccafs	p.P170fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	170	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGCACAGTGGGTCAGAGGC	0.458																																							uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(508-510)CCAfs		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						264.0	227.0	239.0					X																	154221303		2203	4300	6503	SO:0001589	frameshift_variant	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:154221303delG	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.509delC	X.37:g.154221303delG	ENSP00000353393:p.Pro170fs					F8_uc011mzx.1_Frame_Shift_Del_p.P135fs	p.P170fs	NM_000132	NP_000123	P00451	FA8_HUMAN			4	680	-	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)		170			Plastocyanin-like 1.|F5/8 type A 1.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.509delC	CCDS35457.1																																																																																				0.458	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			64	302	NA	NA	NA	NA	NA	64	302	---	---	---	---
