#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
CHD5	26038	broad.mit.edu	37	1	6211173	6211173	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:6211173T>A	ENST00000262450.3	-	7	1012	c.913A>T	c.(913-915)Agc>Tgc	p.S305C	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTGTGGATGCTGGCGCTGTCG	0.597																																							uc001amb.1		NA																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(913-915)AGC>TGC		chromodomain helicase DNA binding protein 5							99.0	86.0	90.0					1																	6211173		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6211173T>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.913A>T	1.37:g.6211173T>A	ENSP00000262450:p.Ser305Cys						p.S305C	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	7	1013	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	305					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.913A>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	t	22.8	4.333605	0.81801	.	.	ENSG00000116254	ENST00000262450	D	0.91843	-2.92	4.0	4.0	0.46444	.	0.000000	0.85682	U	0.000000	D	0.94830	0.8330	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95148	0.8270	10	0.72032	D	0.01	-27.562	13.2259	0.59914	0.0:0.0:0.0:1.0	.	305	Q8TDI0	CHD5_HUMAN	C	305	ENSP00000262450:S305C	ENSP00000262450:S305C	S	-	1	0	CHD5	6133760	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.564000	0.82326	1.607000	0.50170	0.375000	0.23000	AGC		0.597	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		9	38	0	0	0	0.010729	0	9	38				
NOL9	79707	broad.mit.edu	37	1	6586755	6586755	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:6586755C>A	ENST00000377705.5	-	11	1992		c.e11+1			NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9						maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGGCTCACCTGGCACTTA	0.577																																							uc001ans.2		NA																	0				skin(1)	1						c.e11+1		nucleolar protein 9							106.0	99.0	101.0					1																	6586755		2203	4300	6503	SO:0001630	splice_region_variant	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6586755C>A	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1959+1G>T	1.37:g.6586755C>A						NOL9_uc010nzs.1_Splice_Site	p.Q653_splice	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	11	1978	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)						Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Splice_Site	SNP	ENST00000377705.5	37	c.1959_splice	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515736	0.44763	.	.	ENSG00000162408	ENST00000377705	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6028	0.84820	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOL9	6509342	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	5.696000	0.68287	2.520000	0.84964	0.655000	0.94253	.		0.577	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654	Intron	12	75	1	0	4.36969e-10	0.001855	6.07798e-10	12	75				
SLC45A1	50651	broad.mit.edu	37	1	8395557	8395557	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:8395557C>T	ENST00000471889.1	+	6	1889	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R536C|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R502C			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	502					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGCGAGCGCGCGGAGCA	0.642																																							uc001apb.2		NA																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1504-1506)CGC>TGC		DNB5							56.0	64.0	61.0					1																	8395557		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8395557C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1504C>T	1.37:g.8395557C>T	ENSP00000418096:p.Arg502Cys					SLC45A1_uc001apc.2_Missense_Mutation_p.R200C	p.R502C	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1504	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	502					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.1504C>T	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	6.900	0.535670	0.13188	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.77750	-1.12;-1.12;-1.12	5.09	3.09	0.35607	.	1.075970	0.07021	N	0.826731	T	0.54224	0.1845	N	0.08118	0	0.18873	N	0.999983	P	0.35745	0.518	B	0.11329	0.006	T	0.49011	-0.8983	10	0.54805	T	0.06	-4.5978	6.9749	0.24669	0.2709:0.3709:0.3582:0.0	.	502	Q9Y2W3	S45A1_HUMAN	C	502;536;502	ENSP00000418096:R502C;ENSP00000366699:R536C;ENSP00000289877:R502C	ENSP00000289877:R502C	R	+	1	0	SLC45A1	8318144	0.492000	0.26027	0.386000	0.26170	0.009000	0.06853	1.062000	0.30555	1.084000	0.41184	0.561000	0.74099	CGC		0.642	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			4	61	0	0	0	0.009096	0	4	61				
CORT	1325	broad.mit.edu	37	1	10511509	10511509	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:10511509C>G	ENST00000377049.3	+	2	680	c.175C>G	c.(175-177)Cag>Gag	p.Q59E	APITD1_ENST00000602787.1_Missense_Mutation_p.Q118E|APITD1-CORT_ENST00000465026.1_3'UTR|CORT_ENST00000320498.4_Missense_Mutation_p.Q109E|APITD1-CORT_ENST00000470413.2_3'UTR|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.Q118E|APITD1_ENST00000602296.1_3'UTR	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	59					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GTGGACCTCCCAGGCCAGTGC	0.607																																							uc001arf.2		NA																	0				ovary(1)	1						c.(352-354)CAG>GAG		apoptosis-inducing, TAF9-like domain 1 isoform							33.0	40.0	38.0					1																	10511509		2203	4300	6503	SO:0001583	missense	378708				DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr1:10511509C>G	AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.175C>G	1.37:g.10511509C>G	ENSP00000366248:p.Gln59Glu					APITD1_uc001arg.2_3'UTR|CORT_uc001ari.2_Missense_Mutation_p.Q109E	p.Q118E	NM_198544	NP_940946	Q8N2Z9	CENPS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	5	768	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Error:Variant_position_missing_in_Q8N2Z9_after_alignment					Q5T6G0|Q6UX11	Missense_Mutation	SNP	ENST00000377049.3	37	c.352C>G	CCDS117.2	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305958	0.60305	.	.	ENSG00000175279;ENSG00000251503;ENSG00000241563;ENSG00000241563	ENST00000556104;ENST00000400900;ENST00000377049;ENST00000320498	.	.	.	5.71	5.71	0.89125	.	0.479129	0.25011	N	0.033840	T	0.39036	0.1063	L	0.50333	1.59	0.29140	N	0.879057	P;B	0.43477	0.808;0.341	B;B	0.39706	0.307;0.059	T	0.36040	-0.9764	9	0.19147	T	0.46	-1.7911	16.7639	0.85519	0.0:1.0:0.0:0.0	.	59;118	O00230;Q8N2Z9-2	CORT_HUMAN;.	E	118;118;59;109	.	ENSP00000383692:Q118E	Q	+	1	0	APITD1-CORT;APITD1;CORT	10434096	0.561000	0.26578	0.813000	0.32504	0.938000	0.57974	3.942000	0.56614	2.701000	0.92244	0.591000	0.81541	CAG		0.607	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302		3	40	0	0	0	0.000602	0	3	40				
TARDBP	23435	broad.mit.edu	37	1	11078853	11078853	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:11078853G>A	ENST00000240185.3	+	4	580	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	TARDBP_ENST00000315091.3_Missense_Mutation_p.E156K|TARDBP_ENST00000439080.2_Missense_Mutation_p.E40K	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	156	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TACGGAATATGAAACACAAGT	0.398																																							uc001art.2		NA																	0				ovary(2)	2						c.(466-468)GAA>AAA		TAR DNA binding protein							210.0	198.0	202.0					1																	11078853		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11078853G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.466G>A	1.37:g.11078853G>A	ENSP00000240185:p.Glu156Lys					TARDBP_uc010oap.1_Missense_Mutation_p.E40K	p.E156K	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	4	600	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	156	Missing: Completely abolishes RNA binding.		RRM 1.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.466G>A	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161822	0.94727	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	D;D;D	0.88896	-2.44;-2.44;-2.44	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.042575	0.85682	D	0.000000	D	0.89691	0.6788	M	0.64630	1.985	0.80722	D	1	B;B	0.32324	0.349;0.364	B;B	0.37943	0.235;0.261	D	0.86886	0.2045	10	0.35671	T	0.21	-36.4349	20.0825	0.97783	0.0:0.0:1.0:0.0	.	40;156	B4DJ45;Q13148	.;TADBP_HUMAN	K	156;40;156	ENSP00000240185:E156K;ENSP00000404666:E40K;ENSP00000313129:E156K	ENSP00000240185:E156K	E	+	1	0	TARDBP	11001440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.606000	0.98325	2.746000	0.94184	0.655000	0.94253	GAA		0.398	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		20	91	0	0	0	0.012319	0	20	91				
LUZP1	7798	broad.mit.edu	37	1	23418999	23418999	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:23418999T>G	ENST00000302291.4	-	4	2557	c.1756A>C	c.(1756-1758)Aat>Cat	p.N586H	LUZP1_ENST00000314174.5_Missense_Mutation_p.N586H|LUZP1_ENST00000374623.3_Missense_Mutation_p.N586H|LUZP1_ENST00000418342.1_Missense_Mutation_p.N586H			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	586					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCAAGGCCATTGGCAGCCTTT	0.498																																							uc001bgk.2		NA																	0					0						c.(1756-1758)AAT>CAT		leucine zipper protein 1							65.0	67.0	66.0					1																	23418999		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418999T>G	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1756A>C	1.37:g.23418999T>G	ENSP00000303758:p.Asn586His					LUZP1_uc010odv.1_Missense_Mutation_p.N586H|LUZP1_uc001bgl.2_Missense_Mutation_p.N586H|LUZP1_uc001bgm.1_Missense_Mutation_p.N586H	p.N586H	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2140	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	586					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1756A>C	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808704	0.31961	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15718	2.6;2.6;2.6;2.4	5.88	3.43	0.39272	.	0.540328	0.16885	N	0.195545	T	0.14743	0.0356	L	0.44542	1.39	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.14578	0.005;0.011	T	0.16660	-1.0395	10	0.59425	D	0.04	.	7.8216	0.29290	0.0:0.0762:0.2035:0.7202	.	586;586	Q86V48-2;Q86V48	.;LUZP1_HUMAN	H	586	ENSP00000393460:N586H;ENSP00000363752:N586H;ENSP00000303758:N586H;ENSP00000313705:N586H	ENSP00000303758:N586H	N	-	1	0	LUZP1	23291586	0.115000	0.22152	0.749000	0.31150	0.976000	0.68499	1.058000	0.30504	1.056000	0.40484	0.529000	0.55759	AAT		0.498	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		10	55	0	0	0	0.008291	0	10	55				
MYOM3	127294	broad.mit.edu	37	1	24421445	24421445	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:24421445C>A	ENST00000374434.3	-	9	988	c.826G>T	c.(826-828)Gtg>Ttg	p.V276L	MYOM3_ENST00000329601.7_Missense_Mutation_p.V276L|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.V277L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	276	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCTTCAGCACCGAGGTGAAT	0.537																																							uc001bin.3		NA																	0				skin(2)|ovary(1)	3						c.(826-828)GTG>TTG		myomesin family, member 3							55.0	56.0	55.0					1																	24421445		1948	4138	6086	SO:0001583	missense	127294							g.chr1:24421445C>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.826G>T	1.37:g.24421445C>A	ENSP00000363557:p.Val276Leu					MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Missense_Mutation_p.V276L|MYOM3_uc001bip.1_5'UTR	p.V276L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	9	989	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	276			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.826G>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	7.253	0.603691	0.14002	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.66995	-0.24;-0.24;-0.24	5.18	4.27	0.50696	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.443472	0.24472	N	0.038237	T	0.49098	0.1537	L	0.27053	0.805	0.26107	N	0.980737	B;B	0.19331	0.024;0.035	B;B	0.20384	0.021;0.029	T	0.31613	-0.9937	10	0.21540	T	0.41	.	8.0549	0.30600	0.0:0.8156:0.0:0.1844	.	276;276	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	L	276;277;276	ENSP00000363557:V276L;ENSP00000332670:V277L;ENSP00000328415:V276L	ENSP00000328415:V276L	V	-	1	0	MYOM3	24294032	0.319000	0.24607	0.960000	0.40013	0.202000	0.24057	0.550000	0.23345	1.183000	0.42943	-0.262000	0.10625	GTG		0.537	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		10	23	1	0	3.86212e-05	0.008291	4.46541e-05	10	23				
COL16A1	1307	broad.mit.edu	37	1	32119252	32119252	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:32119252T>C	ENST00000373672.3	-	70	5076	c.4560A>G	c.(4558-4560)aaA>aaG	p.K1520K	RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|COL16A1_ENST00000271069.6_Silent_p.K1520K|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1520	Collagen-like 7.|Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAATGTCCCCTTTTTCACCTT	0.458																																					Colon(143;498 1786 21362 25193 36625)	Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(4558-4560)AAA>AAG		alpha 1 type XVI collagen precursor							62.0	62.0	62.0					1																	32119252		1903	4112	6015	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32119252T>C	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4560A>G	1.37:g.32119252T>C						COL16A1_uc001bti.1_Silent_p.K134K|COL16A1_uc001btj.1_Silent_p.K1318K	p.K1520K	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	70	4925	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1520			Triple-helical region 1 (COL1) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.4560A>G	CCDS41297.1																																																																																				0.458	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		2	40	0	0	0	0.004672	0	2	40				
DLGAP3	58512	broad.mit.edu	37	1	35334520	35334520	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:35334520G>T	ENST00000373347.1	-	9	2439	c.2171C>A	c.(2170-2172)aCc>aAc	p.T724N	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T724N			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	724					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GACTGAGTAGGTGGGGGCCCG	0.716																																							uc001byc.2		NA																	0				ovary(3)	3						c.(2170-2172)ACC>AAC		discs, large (Drosophila) homolog-associated							14.0	16.0	15.0					1																	35334520		2062	4072	6134	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35334520G>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2171C>A	1.37:g.35334520G>T	ENSP00000362444:p.Thr724Asn						p.T724N	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			7	2171	-		Myeloproliferative disorder(586;0.0393)	724					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.2171C>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394470	0.42512	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.18810	2.19;2.19	5.36	5.36	0.76844	.	0.492167	0.22939	N	0.053807	T	0.14614	0.0353	N	0.14661	0.345	0.26843	N	0.968332	B	0.25007	0.116	B	0.30251	0.113	T	0.16897	-1.0387	10	0.25106	T	0.35	-22.6215	14.4558	0.67416	0.0:0.0:1.0:0.0	.	724	O95886	DLGP3_HUMAN	N	724	ENSP00000362444:T724N;ENSP00000235180:T724N	ENSP00000235180:T724N	T	-	2	0	DLGAP3	35107107	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.022000	0.41030	2.782000	0.95742	0.655000	0.94253	ACC		0.716	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		7	40	1	0	1.12685e-05	0.004482	1.33642e-05	7	40				
EPHA10	284656	broad.mit.edu	37	1	38227478	38227478	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:38227478C>T	ENST00000373048.4	-	3	448	c.449G>A	c.(448-450)cGc>cAc	p.R150H	EPHA10_ENST00000427468.2_Missense_Mutation_p.R150H|EPHA10_ENST00000319637.6_Missense_Mutation_p.R150H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	150	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.		R -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.R150H(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCGATTTTGCGGGGCCGGCT	0.667																																							uc009vvi.2		NA																	2	Substitution - Missense(2)	p.R150H(1)	cervix(1)|stomach(1)	breast(4)|stomach(3)|lung(1)	8						c.(448-450)CGC>CAC		EPH receptor A10 isofom 3							28.0	34.0	32.0					1																	38227478		2197	4296	6493	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227478C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.449G>A	1.37:g.38227478C>T	ENSP00000362139:p.Arg150His					EPHA10_uc001cbw.3_Missense_Mutation_p.R150H	p.R150H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	535	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	150		R -> H (in a gastric adenocarcinoma sample; somatic mutation).	Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.449G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302145	0.40694	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03689	3.84;3.84;3.84	4.75	-0.744	0.11101	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.552391	0.15315	N	0.268849	T	0.07593	0.0191	L	0.45137	1.4	0.80722	D	1	B;D	0.76494	0.017;0.999	B;D	0.63033	0.008;0.91	T	0.41088	-0.9528	10	0.35671	T	0.21	.	6.552	0.22440	0.0:0.4868:0.1255:0.3877	.	150;150	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	150	ENSP00000397746:R150H;ENSP00000362139:R150H;ENSP00000316395:R150H	ENSP00000316395:R150H	R	-	2	0	EPHA10	38000065	0.913000	0.31002	0.887000	0.34795	0.778000	0.44026	0.081000	0.14823	-0.224000	0.09928	-1.020000	0.02445	CGC		0.667	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		7	29	0	0	0	0.001984	0	7	29				
SLC5A9	200010	broad.mit.edu	37	1	48713140	48713140	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:48713140C>T	ENST00000438567.2	+	14	2023	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000236495.5_Silent_p.L682L|SLC5A9_ENST00000533824.1_Silent_p.L678L	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	657					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AGGAGCCACTCTGGAGACATG	0.547																																							uc001cro.2		NA																	0				ovary(3)	3						c.(1969-1971)CTC>CTT		solute carrier family 5 (sodium/glucose							105.0	98.0	101.0					1																	48713140		2203	4300	6503	SO:0001819	synonymous_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48713140C>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1971C>T	1.37:g.48713140C>T						SLC5A9_uc001crn.2_Silent_p.L682L|SLC5A9_uc010omt.1_Silent_p.L671L|SLC5A9_uc001crp.2_Silent_p.L324L|SLC5A9_uc010omu.1_Silent_p.L324L|SLC5A9_uc009vyt.1_RNA	p.L657L	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			14	2023	+			657			Cytoplasmic (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	c.1971C>T	CCDS30709.2																																																																																				0.547	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		4	75	0	0	0	0.000602	0	4	75				
C8B	732	broad.mit.edu	37	1	57420395	57420395	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:57420395A>G	ENST00000371237.4	-	4	563	c.497T>C	c.(496-498)aTg>aCg	p.M166T	C8B_ENST00000543257.1_Missense_Mutation_p.M114T|C8B_ENST00000535057.1_Missense_Mutation_p.M104T	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	166	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTATTGGTCCATTTCATGCTG	0.448																																							uc001cyp.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(496-498)ATG>ACG		complement component 8, beta polypeptide							181.0	148.0	159.0					1																	57420395		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57420395A>G	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.497T>C	1.37:g.57420395A>G	ENSP00000360281:p.Met166Thr					C8B_uc010oon.1_Missense_Mutation_p.M104T|C8B_uc010ooo.1_Missense_Mutation_p.M114T	p.M166T	NM_000066	NP_000057	P07358	CO8B_HUMAN			4	564	-			166			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.497T>C	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718988	0.48622	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.26373	1.88;1.91;1.74	5.87	4.69	0.59074	Membrane attack complex component/perforin (MACPF) domain (1);	0.224071	0.53938	D	0.000047	T	0.26702	0.0653	M	0.67397	2.05	0.47214	D	0.999355	B;B;B	0.29432	0.063;0.244;0.085	B;B;B	0.26202	0.023;0.067;0.017	T	0.04017	-1.0984	10	0.24483	T	0.36	-14.1684	12.9218	0.58237	0.8787:0.0:0.0:0.1213	.	114;104;166	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	T	166;114;104	ENSP00000360281:M166T;ENSP00000442548:M114T;ENSP00000440113:M104T	ENSP00000360281:M166T	M	-	2	0	C8B	57192983	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.301000	0.65727	2.371000	0.80710	0.533000	0.62120	ATG		0.448	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			12	88	0	0	0	0.001855	0	12	88				
SGIP1	84251	broad.mit.edu	37	1	67147567	67147567	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:67147567C>A	ENST00000371037.4	+	15	907	c.830C>A	c.(829-831)gCc>gAc	p.A277D	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A281D|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	277	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.A277D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GACCAGTCAGCCACAGAGGTC	0.403																																							uc001dcr.2		NA																	1	Substitution - Missense(1)	p.A277D(1)	ovary(1)	ovary(3)	3						c.(829-831)GCC>GAC		SH3-domain GRB2-like (endophilin) interacting							96.0	96.0	96.0					1																	67147567		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147567C>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.830C>A	1.37:g.67147567C>A	ENSP00000360076:p.Ala277Asp					SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.A44D	p.A277D	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			15	1047	+			277			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.830C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713034	0.48517	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03094	4.05;4.05	5.45	5.45	0.79879	.	0.263211	0.36591	N	0.002507	T	0.01765	0.0056	L	0.29908	0.895	0.80722	D	1	B;B	0.28713	0.22;0.041	B;B	0.28139	0.086;0.037	T	0.55698	-0.8100	10	0.38643	T	0.18	-15.2366	14.4956	0.67685	0.1467:0.8532:0.0:0.0	.	280;277	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	D	281;280;280;277	ENSP00000237247:A281D;ENSP00000360076:A277D	ENSP00000237247:A281D	A	+	2	0	SGIP1	66920155	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.278000	0.33179	2.708000	0.92522	0.650000	0.86243	GCC		0.403	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		17	100	1	0	9.16793e-09	0.00499	1.22387e-08	17	100				
IL23R	149233	broad.mit.edu	37	1	67724488	67724488	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:67724488A>T	ENST00000347310.5	+	11	1738	c.1567A>T	c.(1567-1569)Agg>Tgg	p.R523W	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.R268W|IL23R_ENST00000473881.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	523					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATAATCCCAGGTTACAAAA	0.343																																							uc001ddo.2		NA																	0					0						c.(1567-1569)AGG>TGG		interleukin 23 receptor precursor							49.0	48.0	48.0					1																	67724488		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724488A>T	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1567A>T	1.37:g.67724488A>T	ENSP00000321345:p.Arg523Trp					IL23R_uc009waz.2_Missense_Mutation_p.R320W|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.R121W|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.R105W|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.R269W|IL23R_uc010opn.1_Missense_Mutation_p.R368W|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Missense_Mutation_p.R320W|IL23R_uc010opt.1_Missense_Mutation_p.R164W|IL23R_uc010opu.1_Missense_Mutation_p.R219W|IL23R_uc010opv.1_Missense_Mutation_p.R281W|IL23R_uc010opw.1_Missense_Mutation_p.R158W|IL23R_uc010opx.1_Missense_Mutation_p.R164W|IL23R_uc010opy.1_Missense_Mutation_p.R290W|IL23R_uc010opz.1_Missense_Mutation_p.R164W|IL23R_uc010oqa.1_Missense_Mutation_p.R164W|IL23R_uc010oqb.1_Missense_Mutation_p.R352W|IL23R_uc010oqc.1_Missense_Mutation_p.R239W|IL23R_uc010oqd.1_Missense_Mutation_p.R158W|IL23R_uc010oqe.1_Missense_Mutation_p.R121W|IL23R_uc010oqf.1_Missense_Mutation_p.R121W|IL23R_uc010oqg.1_Missense_Mutation_p.R121W|IL23R_uc010oqh.1_Missense_Mutation_p.R164W|IL23R_uc001dds.2_Missense_Mutation_p.R268W|IL23R_uc001ddt.2_Missense_Mutation_p.R121W	p.R523W	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			11	1652	+			523			Cytoplasmic (Potential).		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.1567A>T	CCDS637.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.057131	0.55325	.	.	ENSG00000162594	ENST00000347310;ENST00000395227	T;T	0.36520	1.25;1.36	5.39	-2.98	0.05513	.	1.175050	0.05967	N	0.641620	T	0.26666	0.0652	M	0.62723	1.935	0.09310	N	1	B;B;D;B;D	0.67145	0.004;0.009;0.995;0.004;0.996	B;B;P;B;P	0.58873	0.004;0.011;0.847;0.004;0.724	T	0.14144	-1.0483	10	0.87932	D	0	-40.4426	0.439	0.00483	0.3808:0.13:0.2362:0.253	.	269;158;121;268;523	Q5VWK5-2;Q5VWK5-5;Q5VWK5-7;Q5VWK5-6;Q5VWK5	.;.;.;.;IL23R_HUMAN	W	523;268	ENSP00000321345:R523W;ENSP00000378652:R268W	ENSP00000321345:R523W	R	+	1	2	IL23R	67497076	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.453000	0.21811	-0.437000	0.07243	0.528000	0.53228	AGG		0.343	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		13	25	0	0	0	0.001855	0	13	25				
PTGFR	5737	broad.mit.edu	37	1	78958727	78958727	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:78958727G>T	ENST00000370757.3	+	2	536	c.299G>T	c.(298-300)cGc>cTc	p.R100L	PTGFR_ENST00000370758.1_Missense_Mutation_p.R100L|PTGFR_ENST00000370756.3_Missense_Mutation_p.R100L	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	100					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.R100H(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GAATGGATCCGCTTTGACCAA	0.448																																							uc001din.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(3)|breast(2)|skin(1)	6						c.(298-300)CGC>CTC		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						137.0	126.0	130.0					1																	78958727		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958727G>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.299G>T	1.37:g.78958727G>T	ENSP00000359793:p.Arg100Leu					PTGFR_uc001dim.2_Missense_Mutation_p.R100L	p.R100L	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	565	+			100			Extracellular (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.299G>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912460	0.17907	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	D;D;T	0.89810	-2.57;-2.57;-1.01	5.85	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.314666	0.35291	N	0.003317	T	0.67002	0.2847	N	0.20685	0.6	0.42234	D	0.991902	B;P	0.39535	0.392;0.677	B;B	0.38194	0.216;0.267	T	0.67277	-0.5711	10	0.11485	T	0.65	-3.6524	11.7169	0.51659	0.1457:0.0:0.8543:0.0	.	100;100	P43088;P43088-2	PF2R_HUMAN;.	L	100	ENSP00000359794:R100L;ENSP00000359793:R100L;ENSP00000359792:R100L	ENSP00000359792:R100L	R	+	2	0	PTGFR	78731315	0.994000	0.37717	1.000000	0.80357	0.526000	0.34562	1.899000	0.39818	0.903000	0.36546	0.655000	0.94253	CGC		0.448	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		6	81	1	0	3.59834e-05	0.001168	4.18376e-05	6	81				
GBP5	115362	broad.mit.edu	37	1	89735212	89735212	+	Missense_Mutation	SNP	G	G	T	rs374743187		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:89735212G>T	ENST00000370459.3	-	2	154	c.27C>A	c.(25-27)gaC>gaA	p.D9E	GBP5_ENST00000343435.5_Missense_Mutation_p.D9E|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	9	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGCACATGGGGTCTGACATGT	0.453																																							uc001dnc.2		NA																	0				ovary(1)	1						c.(25-27)GAC>GAA		guanylate-binding protein 5							205.0	195.0	198.0					1																	89735212		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89735212G>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.27C>A	1.37:g.89735212G>T	ENSP00000359488:p.Asp9Glu					GBP5_uc001dnd.2_Missense_Mutation_p.D9E|GBP5_uc001dne.1_Missense_Mutation_p.D9E	p.D9E	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	3	564	-			9					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.27C>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	4.389	0.071839	0.08436	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.59772	0.24;0.24;0.24	4.82	-6.91	0.01649	.	0.894418	0.09542	N	0.788087	T	0.06096	0.0158	N	0.01640	-0.785	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32955	-0.9887	10	0.07175	T	0.84	1.2465	8.7285	0.34485	0.0698:0.09:0.1337:0.7064	.	9	Q96PP8	GBP5_HUMAN	E	9	ENSP00000340396:D9E;ENSP00000359488:D9E;ENSP00000403010:D9E	ENSP00000340396:D9E	D	-	3	2	GBP5	89507800	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.967000	0.03821	-1.505000	0.01807	-0.181000	0.13052	GAC		0.453	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		15	116	1	0	1.15088e-07	0.004007	1.46331e-07	15	116				
PLPPR4	9890	broad.mit.edu	37	1	99764761	99764761	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:99764761G>C	ENST00000370185.3	+	4	1206	c.709G>C	c.(709-711)Gac>Cac	p.D237H	LPPR4_ENST00000457765.1_Missense_Mutation_p.D237H|LPPR4_ENST00000370184.1_Missense_Mutation_p.D79H	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		237					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTCAGGATCTGACCTCACAGT	0.378																																							uc001dse.2		NA																	0				ovary(3)	3						c.(709-711)GAC>CAC		plasticity related gene 1							82.0	80.0	81.0					1																	99764761		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99764761G>C																												ENST00000370185.3:c.709G>C	1.37:g.99764761G>C	ENSP00000359204:p.Asp237His					LPPR4_uc010oue.1_Missense_Mutation_p.D237H	p.D237H	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	4	815	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	237					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.709G>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838317	0.91117	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.48201	0.82;0.82;0.82	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.097074	0.64402	D	0.000002	T	0.70815	0.3267	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75676	-0.3235	10	0.87932	D	0	-42.5817	19.5802	0.95464	0.0:0.0:1.0:0.0	.	237;237	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	H	237;237;237;79	ENSP00000359204:D237H;ENSP00000394913:D237H;ENSP00000359203:D79H	ENSP00000263178:D237H	D	+	1	0	RP4-788L13.1	99537349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.806000	0.99153	2.712000	0.92718	0.650000	0.86243	GAC		0.378	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			10	34	0	0	0	0.013537	0	10	34				
WDR47	22911	broad.mit.edu	37	1	109538225	109538225	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:109538225C>A	ENST00000369962.3	-	8	1890	c.1668G>T	c.(1666-1668)gaG>gaT	p.E556D	WDR47_ENST00000357672.3_Missense_Mutation_p.E528D|WDR47_ENST00000400794.3_Missense_Mutation_p.E564D|WDR47_ENST00000361054.3_Missense_Mutation_p.E528D|WDR47_ENST00000369965.4_Missense_Mutation_p.E557D			O94967	WDR47_HUMAN	WD repeat domain 47	556					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AAGGTGATTCCTCCAGAAAAG	0.383																																							uc001dwj.2		NA																	0				ovary(1)	1						c.(1666-1668)GAG>GAT		WD repeat domain 47 isoform 3							203.0	206.0	205.0					1																	109538225		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109538225C>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1668G>T	1.37:g.109538225C>A	ENSP00000358979:p.Glu556Asp					WDR47_uc001dwl.2_Missense_Mutation_p.E564D|WDR47_uc001dwi.2_Missense_Mutation_p.E557D|WDR47_uc001dwk.2_Missense_Mutation_p.E528D|WDR47_uc010ovf.1_Missense_Mutation_p.E483D	p.E556D	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	8	2044	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	556					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1668G>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319421	0.41096	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.56941	0.43;0.47;0.43;0.43;0.43	5.51	3.23	0.37069	.	0.252041	0.43919	D	0.000510	T	0.14399	0.0348	N	0.19112	0.55	0.43588	D	0.995936	B;B;B;B	0.22211	0.034;0.0;0.0;0.066	B;B;B;B	0.21151	0.014;0.0;0.0;0.033	T	0.07790	-1.0754	10	0.13108	T	0.6	-19.2027	6.3712	0.21483	0.0:0.6601:0.0:0.3399	.	528;564;556;557	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	D	564;556;528;557;528	ENSP00000383599:E564D;ENSP00000358979:E556D;ENSP00000354339:E528D;ENSP00000358982:E557D;ENSP00000350301:E528D	ENSP00000350301:E528D	E	-	3	2	WDR47	109339748	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.250000	0.32850	1.432000	0.47375	0.462000	0.41574	GAG		0.383	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		18	151	1	0	9.7654e-05	0.007413	0.000110444	18	151				
CYB561D1	284613	broad.mit.edu	37	1	110038606	110038606	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:110038606G>A	ENST00000420578.2	+	3	455	c.415G>A	c.(415-417)Gct>Act	p.A139T	CYB561D1_ENST00000528785.1_Missense_Mutation_p.A139T|CYB561D1_ENST00000369868.3_Missense_Mutation_p.A161T|CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.A82T			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	139	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCTGGCCACTGCTGTCCAGGC	0.632																																							uc010ovn.1		NA																	0					0						c.(415-417)GCT>ACT		cytochrome b-561 domain containing 1 isoform 2							72.0	68.0	69.0					1																	110038606		2203	4300	6503	SO:0001583	missense	284613				electron transport chain|transport	integral to membrane	metal ion binding	g.chr1:110038606G>A	AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"""Cytochrome b genes"""	26804	protein-coding gene	gene with protein product			"""cytochrome b-561 domain containing 1"""			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.415G>A	1.37:g.110038606G>A	ENSP00000413530:p.Ala139Thr					CYB561D1_uc010ovl.1_Missense_Mutation_p.A82T|CYB561D1_uc010ovm.1_Missense_Mutation_p.A81T|CYB561D1_uc001dxu.2_3'UTR|CYB561D1_uc001dxw.2_3'UTR|CYB561D1_uc010ovo.1_Missense_Mutation_p.A161T|CYB561D1_uc009wfd.2_Missense_Mutation_p.A88T|CYB561D1_uc010ovp.1_Missense_Mutation_p.A73T	p.A139T	NM_182580	NP_872386	Q8N8Q1	C56D1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	476	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	139			Cytochrome b561.|Helical; (Potential).		B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Missense_Mutation	SNP	ENST00000420578.2	37	c.415G>A	CCDS800.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986322	0.35036	.	.	ENSG00000174151	ENST00000393709;ENST00000420578;ENST00000528785;ENST00000369868	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.35	0.933	0.19471	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	1.153240	0.06122	N	0.669146	T	0.10981	0.0268	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.20988	0.05;0.007;0.003;0.007	B;B;B;B	0.20384	0.023;0.029;0.016;0.023	T	0.26643	-1.0097	10	0.21540	T	0.41	2.319	3.6882	0.08336	0.3965:0.0:0.4368:0.1667	.	161;139;82;101	Q8N8Q1-3;Q8N8Q1;E9PCM8;Q6ZQS1	.;C56D1_HUMAN;.;.	T	82;139;139;161	ENSP00000377312:A82T;ENSP00000413530:A139T;ENSP00000434344:A139T;ENSP00000358884:A161T	ENSP00000358884:A161T	A	+	1	0	CYB561D1	109840129	0.000000	0.05858	0.000000	0.03702	0.951000	0.60555	-0.163000	0.09997	0.333000	0.23563	0.555000	0.69702	GCT		0.632	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	NM_182580		8	58	0	0	0	0.006214	0	8	58				
MAN1A2	10905	broad.mit.edu	37	1	118065453	118065453	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:118065453G>A	ENST00000356554.3	+	13	2535	c.1800G>A	c.(1798-1800)ttG>ttA	p.L600L		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	600					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TCAGATATTTGTATCTGCTGT	0.403																																					Ovarian(33;199 881 8228 13687 31538)	Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1		NA																	0					0						c.(1798-1800)TTG>TTA		mannosidase, alpha, class 1A, member 2							126.0	126.0	126.0					1																	118065453		2203	4299	6502	SO:0001819	synonymous_variant	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:118065453G>A	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1800G>A	1.37:g.118065453G>A							p.L600L	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	13	2521	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	600			Lumenal (Potential).		Q9H510	Silent	SNP	ENST00000356554.3	37	c.1800G>A	CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	6.069	0.381021	0.11466	.	.	ENSG00000198162	ENST00000421535	.	.	.	5.79	3.69	0.42338	.	.	.	.	.	T	0.45115	0.1326	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39210	-0.9625	4	.	.	.	-12.8329	9.0666	0.36467	0.2054:0.0:0.7946:0.0	.	.	.	.	I	167	.	.	V	+	1	0	MAN1A2	117866976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.454000	0.60068	0.620000	0.30215	0.555000	0.69702	GTA		0.403	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		8	70	0	0	0	0.006214	0	8	70				
SPAG17	200162	broad.mit.edu	37	1	118635849	118635849	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:118635849C>G	ENST00000336338.5	-	8	1168	c.1103G>C	c.(1102-1104)aGc>aCc	p.S368T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	368						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.S368I(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAGCTGCATGCTTTCCAAATA	0.418																																							uc001ehk.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1102-1104)AGC>ACC		sperm associated antigen 17							115.0	104.0	108.0					1																	118635849		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118635849C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1103G>C	1.37:g.118635849C>G	ENSP00000337804:p.Ser368Thr						p.S368T	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	8	1171	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	368					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1103G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696468	0.30142	.	.	ENSG00000155761	ENST00000336338	T	0.68765	-0.35	5.64	-1.65	0.08291	.	0.350142	0.39341	N	0.001390	T	0.41604	0.1166	M	0.72118	2.19	0.09310	N	0.999991	P	0.42692	0.787	B	0.38428	0.273	T	0.47736	-0.9094	10	0.59425	D	0.04	.	8.1488	0.31128	0.0:0.3541:0.108:0.5379	.	368	Q6Q759	SPG17_HUMAN	T	368	ENSP00000337804:S368T	ENSP00000337804:S368T	S	-	2	0	SPAG17	118437372	0.625000	0.27111	0.968000	0.41197	0.557000	0.35523	-0.116000	0.10724	-0.150000	0.11195	0.591000	0.81541	AGC		0.418	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		9	27	0	0	0	0.010729	0	9	27				
NOTCH2	4853	broad.mit.edu	37	1	120466285	120466285	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:120466285C>T	ENST00000256646.2	-	26	5053	c.4834G>A	c.(4834-4836)Ggt>Agt	p.G1612S	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1612	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGTTCACCAGGAAGGGAT	0.468			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(4834-4836)GGT>AGT		notch 2 preproprotein							95.0	92.0	93.0					1																	120466285		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120466285C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4834G>A	1.37:g.120466285C>T	ENSP00000256646:p.Gly1612Ser						p.G1612S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	26	5090	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1612			Negative regulatory region (NRR).|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4834G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	5.194	0.221268	0.09863	.	.	ENSG00000134250	ENST00000256646	T	0.81247	-1.47	6.08	0.838	0.18902	.	1.252050	0.06007	N	0.648792	T	0.40040	0.1101	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24190	-1.0167	10	0.09338	T	0.73	.	6.0218	0.19632	0.0:0.5776:0.1282:0.2942	.	1612	Q04721	NOTC2_HUMAN	S	1612	ENSP00000256646:G1612S	ENSP00000256646:G1612S	G	-	1	0	NOTCH2	120267808	0.000000	0.05858	0.026000	0.17262	0.707000	0.40811	0.132000	0.15891	0.167000	0.19631	-0.150000	0.13652	GGT		0.468	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		14	77	0	0	0	0.003163	0	14	77				
PDE4DIP	9659	broad.mit.edu	37	1	144882694	144882694	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:144882694G>T	ENST00000369354.3	-	24	3514	c.3325C>A	c.(3325-3327)Ctg>Atg	p.L1109M	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L1246M|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1246M|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1109M|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1109					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCATTCTTCAGTTTTCCCTGG	0.473			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3325-3327)CTG>ATG		phosphodiesterase 4D interacting protein isoform							262.0	252.0	256.0					1																	144882694		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882694G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3325C>A	1.37:g.144882694G>T	ENSP00000358360:p.Leu1109Met					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.L116M	p.L1109M	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3616	-			1109			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3325C>A	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.34|18.34	3.602087|3.602087	0.66445|0.66445	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530592	T;T;T;T|.	0.01981|.	4.52;4.52;4.55;4.53|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|.	.|.	.|.	.|.	T|T	0.50309|0.50309	0.1608|0.1608	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|T	0.47195|0.47195	-0.9136|-0.9136	9|5	0.54805|.	T|.	0.06|.	.|.	12.5747|12.5747	0.56357|0.56357	0.0:0.0:0.834:0.166|0.0:0.0:0.834:0.166	.|.	1109|.	Q5VU43|.	MYOME_HUMAN|.	M|N	1109;1109;1246;1246|3	ENSP00000358360:L1109M;ENSP00000358363:L1109M;ENSP00000435654:L1246M;ENSP00000358366:L1246M|.	ENSP00000358360:L1109M|.	L|T	-|-	1|2	2|0	PDE4DIP|PDE4DIP	143594051|143594051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	2.170000|2.170000	0.42443|0.42443	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.473	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		61	188	1	0	6.5469e-37	0.01441	1.19021e-36	61	188				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																							uc001end.3		NA																	4	Substitution - coding silent(4)		prostate(3)|kidney(1)		0						c.(10558-10560)AAA>AAG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.K3520K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10595	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10560A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	89	0	0	0	0.000602	0	5	89				
BCL9	607	broad.mit.edu	37	1	147096596	147096596	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:147096596G>A	ENST00000234739.3	+	10	4857	c.4117G>A	c.(4117-4119)Ggg>Agg	p.G1373R		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1373	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACCCACCCTGGGCCTGTGGG	0.637			T	"""IGH@, IGL@"""	B-ALL																																		uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(4117-4119)GGG>AGG		B-cell CLL/lymphoma 9							33.0	37.0	36.0					1																	147096596		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096596G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.4117G>A	1.37:g.147096596G>A	ENSP00000234739:p.Gly1373Arg					BCL9_uc010ozr.1_Missense_Mutation_p.G1287R	p.G1373R	NM_004326	NP_004317	O00512	BCL9_HUMAN			10	4857	+	all_hematologic(923;0.115)		1373			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.4117G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149573	0.78001	.	.	ENSG00000116128	ENST00000234739	T	0.57273	0.41	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	L	0.48642	1.525	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.63957	0.92;0.92	T	0.63786	-0.6558	10	0.87932	D	0	-8.9327	18.9922	0.92798	0.0:0.0:1.0:0.0	.	1373;1373	Q1JQ81;O00512	.;BCL9_HUMAN	R	1373	ENSP00000234739:G1373R	ENSP00000234739:G1373R	G	+	1	0	BCL9	145563220	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	9.804000	0.99143	2.486000	0.83907	0.650000	0.86243	GGG		0.637	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	52	0	0	0	0.00308	0	7	52				
SF3B4	10262	broad.mit.edu	37	1	149895789	149895789	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:149895789G>C	ENST00000271628.8	-	5	1615	c.1031C>G	c.(1030-1032)cCt>cGt	p.P344R		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	344					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGGAGGTCCAGGATGAGGCAT	0.632																																							uc001etj.1		NA																	0				ovary(1)	1						c.(1030-1032)CCT>CGT		splicing factor 3b, subunit 4							16.0	18.0	17.0					1																	149895789		2201	4300	6501	SO:0001583	missense	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149895789G>C	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.1031C>G	1.37:g.149895789G>C	ENSP00000271628:p.Pro344Arg					SF3B4_uc001eti.1_Missense_Mutation_p.P108R|SF3B4_uc001etk.1_Missense_Mutation_p.P344R	p.P344R	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		5	1082	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		344					Q5SZ63	Missense_Mutation	SNP	ENST00000271628.8	37	c.1031C>G	CCDS941.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505094	0.64410	.	.	ENSG00000143368	ENST00000271628	T	0.24350	1.86	4.96	4.96	0.65561	.	0.128512	0.53938	D	0.000048	T	0.30665	0.0772	L	0.41824	1.3	0.80722	D	1	D	0.64830	0.994	D	0.76071	0.987	T	0.01345	-1.1379	10	0.22706	T	0.39	.	16.9355	0.86202	0.0:0.0:1.0:0.0	.	344	Q15427	SF3B4_HUMAN	R	344	ENSP00000271628:P344R	ENSP00000271628:P344R	P	-	2	0	SF3B4	148162413	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.624000	0.61254	2.572000	0.86782	0.650000	0.86243	CCT		0.632	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		4	25	0	0	0	0.000602	0	4	25				
VPS72	6944	broad.mit.edu	37	1	151157999	151157999	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:151157999T>A	ENST00000354473.4	-	3	404	c.368A>T	c.(367-369)cAa>cTa	p.Q123L	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	123					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCGTCATCTTGTAGTTCTAA	0.443																																					Pancreas(109;1131 2287 3209 24201)	Pancreas(109;1131 2287 3209 24201)	uc001exe.1		NA																	0				breast(1)|pancreas(1)	2						c.(367-369)CAA>CTA		transcription factor-like 1							254.0	247.0	249.0					1																	151157999		2203	4300	6503	SO:0001583	missense	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151157999T>A	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.368A>T	1.37:g.151157999T>A	ENSP00000346464:p.Gln123Leu					VPS72_uc001exf.1_Missense_Mutation_p.Q123L	p.Q123L	NM_005997	NP_005988	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	411	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		123					A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	ENST00000354473.4	37	c.368A>T	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253607	0.22965	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.46	5.46	0.80206	.	0.058069	0.64402	D	0.000001	T	0.17789	0.0427	N	0.12443	0.215	0.52099	D	0.999948	P	0.48589	0.912	B	0.41135	0.348	T	0.03503	-1.1030	9	0.27785	T	0.31	-2.8651	13.9263	0.63964	0.0:0.0:0.0:1.0	.	123	Q15906	VPS72_HUMAN	L	123	.	ENSP00000346464:Q123L	Q	-	2	0	VPS72	149424623	1.000000	0.71417	0.996000	0.52242	0.017000	0.09413	4.339000	0.59322	2.291000	0.77112	0.533000	0.62120	CAA		0.443	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		58	373	0	0	0	0.01441	0	58	373				
SELENBP1	8991	broad.mit.edu	37	1	151337030	151337030	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:151337030T>G	ENST00000368868.5	-	12	1499	c.1408A>C	c.(1408-1410)Atc>Ctc	p.I470L	SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Missense_Mutation_p.I512L|SELENBP1_ENST00000447402.3_Missense_Mutation_p.I408L|SELENBP1_ENST00000435071.1_Missense_Mutation_p.I406L	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	470					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			CAAATCCAGATGTCAGAGCTA	0.587																																							uc001exx.2		NA																	0					0						c.(1408-1410)ATC>CTC		selenium binding protein 1							112.0	114.0	114.0					1																	151337030		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151337030T>G	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1408A>C	1.37:g.151337030T>G	ENSP00000357861:p.Ile470Leu					SELENBP1_uc010pcy.1_Missense_Mutation_p.I512L|SELENBP1_uc001exy.2_Missense_Mutation_p.I367L|SELENBP1_uc001exz.2_Missense_Mutation_p.I367L|SELENBP1_uc010pcz.1_Missense_Mutation_p.I408L|SELENBP1_uc009wms.2_Missense_Mutation_p.I306L|SELENBP1_uc009wmt.2_Missense_Mutation_p.I367L|SELENBP1_uc001eya.2_Missense_Mutation_p.I406L|SELENBP1_uc009wmu.2_3'UTR	p.I470L	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	1455	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		470					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.1408A>C	CCDS995.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.841275	0.91197	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	0.981;0.997;0.999;1.0	D;D;D;D	0.81914	0.97;0.983;0.995;0.993	D	0.86481	0.1791	9	0.66056	D	0.02	-5.4581	13.3611	0.60657	0.0:0.0:0.0:1.0	.	408;323;406;470	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	L	470;408;406	.	ENSP00000357861:I470L	I	-	1	0	SELENBP1	149603654	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.770000	0.85390	1.838000	0.53458	0.454000	0.30748	ATC		0.587	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			25	147	0	0	0	0.005443	0	25	147				
HRNR	388697	broad.mit.edu	37	1	152191695	152191695	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152191695A>T	ENST00000368801.2	-	3	2485	c.2410T>A	c.(2410-2412)Tgt>Agt	p.C804S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	804					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAATGGCCACAGCTGGAAGAA	0.582																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2410-2412)TGT>AGT		hornerin							64.0	70.0	68.0					1																	152191695		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191695A>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2410T>A	1.37:g.152191695A>T	ENSP00000357791:p.Cys804Ser						p.C804S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2486	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		804			8.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2410T>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	4.640	0.118998	0.08881	.	.	ENSG00000197915	ENST00000368801	T	0.04917	3.53	2.55	-0.266	0.12942	.	.	.	.	.	T	0.00384	0.0012	N	0.00413	-1.525	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43147	-0.9409	9	0.06365	T	0.9	.	5.8037	0.18428	0.7991:0.0:0.2009:0.0	.	804	Q86YZ3	HORN_HUMAN	S	804	ENSP00000357791:C804S	ENSP00000357791:C804S	C	-	1	0	HRNR	150458319	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.406000	0.07187	-0.204000	0.10235	-0.413000	0.06143	TGT		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		14	67	0	0	0	0.00245	0	14	67				
FLG	2312	broad.mit.edu	37	1	152281967	152281967	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152281967C>T	ENST00000368799.1	-	3	5430	c.5395G>A	c.(5395-5397)Gac>Aac	p.D1799N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1799	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGTCTCGTGCCTGC	0.602									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5395-5397)GAC>AAC		filaggrin							287.0	296.0	293.0					1																	152281967		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.chr1:152281967C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5395G>A	1.37:g.152281967C>T	ENSP00000357789:p.Asp1799Asn						p.D1799N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5431	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1799			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5395G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049798	0.36181	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.04454	3.62	4.09	0.744	0.18353	.	.	.	.	.	T	0.04497	0.0123	M	0.74546	2.27	0.09310	N	1	D	0.61697	0.99	P	0.54759	0.76	T	0.28713	-1.0035	9	0.52906	T	0.07	-11.4358	2.2818	0.04116	0.184:0.4877:0.2147:0.1136	.	1799	P20930	FILA_HUMAN	N	1799;34	ENSP00000357789:D1799N	ENSP00000271820:D34N	D	-	1	0	FLG	150548591	0.052000	0.20516	0.012000	0.15200	0.008000	0.06430	1.678000	0.37586	0.442000	0.26555	0.461000	0.40582	GAC		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		35	543	0	0	0	0.004878	0	35	543				
FLG	2312	broad.mit.edu	37	1	152282329	152282329	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152282329C>G	ENST00000368799.1	-	3	5068	c.5033G>C	c.(5032-5034)gGa>gCa	p.G1678A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1678	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTTTCTCCTGGACTTGA	0.557									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5032-5034)GGA>GCA		filaggrin							322.0	322.0	322.0					1																	152282329		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.chr1:152282329C>G	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.5033G>C	1.37:g.152282329C>G	ENSP00000357789:p.Gly1678Ala						p.G1678A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5069	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1678			Ser-rich.|Filaggrin 10.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5033G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164242	0.21538	.	.	ENSG00000143631	ENST00000368799	T	0.05649	3.41	3.64	1.65	0.23941	.	.	.	.	.	T	0.06096	0.0158	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.20505	-1.0273	9	0.09338	T	0.73	.	4.4456	0.11595	0.0:0.6333:0.2354:0.1313	.	1678	P20930	FILA_HUMAN	A	1678	ENSP00000357789:G1678A	ENSP00000357789:G1678A	G	-	2	0	FLG	150548953	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-7.394000	0.00037	0.833000	0.34828	0.306000	0.20318	GGA		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		16	806	0	0	0	0.008871	0	16	806				
FLG	2312	broad.mit.edu	37	1	152283290	152283290	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152283290C>T	ENST00000368799.1	-	3	4107	c.4072G>A	c.(4072-4074)Gga>Aga	p.G1358R	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	1358	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCGGGATCCATGTCTTTCT	0.547									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4072-4074)GGA>AGA		filaggrin							375.0	355.0	362.0					1																	152283290		2203	4298	6501	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.chr1:152283290C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4072G>A	1.37:g.152283290C>T	ENSP00000357789:p.Gly1358Arg					uc001ezv.2_5'Flank	p.G1358R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4108	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1358			Ser-rich.|Filaggrin 8.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4072G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304458	0.23736	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	3.59	-6.43	0.01926	.	.	.	.	.	T	0.00784	0.0026	M	0.71581	2.175	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.39187	-0.9626	9	0.52906	T	0.07	.	7.1804	0.25770	0.0:0.2549:0.4994:0.2457	.	1358	P20930	FILA_HUMAN	R	1358	ENSP00000357789:G1358R	ENSP00000357789:G1358R	G	-	1	0	FLG	150549914	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.167000	0.09940	-1.650000	0.01506	-0.241000	0.12123	GGA		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		109	735	0	0	0	0.01441	0	109	735				
FLG2	388698	broad.mit.edu	37	1	152328162	152328162	+	Silent	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152328162T>G	ENST00000388718.5	-	3	2172	c.2100A>C	c.(2098-2100)tcA>tcC	p.S700S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	700	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGATTGACTTGAGCCAAAAC	0.468																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2098-2100)TCA>TCC		filaggrin family member 2							350.0	344.0	346.0					1																	152328162		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152328162T>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2100A>C	1.37:g.152328162T>G						uc001ezv.2_Intron	p.S700S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2173	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		700			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2100A>C	CCDS30861.1																																																																																				0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		83	583	0	0	0	0.01441	0	83	583				
LCE1C	353133	broad.mit.edu	37	1	152777708	152777708	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152777708G>A	ENST00000607093.1	-	1	246	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1C_ENST00000368768.1_Missense_Mutation_p.R83C			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	83	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGACCTACGGCGCCTGTGG	0.701																																							uc001fap.1		NA																	0					0						c.(247-249)CGT>TGT		late cornified envelope 1C							28.0	36.0	33.0					1																	152777708		2201	4286	6487	SO:0001583	missense	353133				keratinization			g.chr1:152777708G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.247C>T	1.37:g.152777708G>A	ENSP00000475270:p.Arg83Cys						p.R83C	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	298	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.247C>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.023866	0.02061	.	.	ENSG00000197084	ENST00000368768	T	0.04406	3.63	3.16	1.01	0.19927	.	0.314770	0.14807	N	0.297281	T	0.01976	0.0062	M	0.66939	2.045	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.39099	-0.9630	10	0.87932	D	0	.	3.3949	0.07302	0.1428:0.0:0.607:0.2503	.	83	Q5T751	LCE1C_HUMAN	C	83	ENSP00000357757:R83C	ENSP00000357757:R83C	R	-	1	0	LCE1C	151044332	0.048000	0.20356	0.197000	0.23402	0.030000	0.12068	1.863000	0.39459	0.659000	0.30945	-0.137000	0.14449	CGT		0.701	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		11	94	0	0	0	0.00245	0	11	94				
LCE1C	353133	broad.mit.edu	37	1	152777762	152777762	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:152777762C>A	ENST00000607093.1	-	1	192	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	LCE1C_ENST00000368768.1_Missense_Mutation_p.G65W			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	65	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCATCCCCCAGAGCTGGAG	0.657																																							uc001fap.1		NA																	0					0						c.(193-195)GGG>TGG		late cornified envelope 1C							40.0	46.0	44.0					1																	152777762		2203	4300	6503	SO:0001583	missense	353133				keratinization			g.chr1:152777762C>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.193G>T	1.37:g.152777762C>A	ENSP00000475270:p.Gly65Trp						p.G65W	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	244	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.193G>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	8.957	0.969658	0.18659	.	.	ENSG00000197084	ENST00000368768	T	0.05996	3.36	3.32	3.32	0.38043	.	0.000000	0.34411	N	0.003997	T	0.13713	0.0332	M	0.80616	2.505	0.27574	N	0.949802	D	0.76494	0.999	D	0.72338	0.977	T	0.00857	-1.1538	10	0.87932	D	0	.	10.9901	0.47545	0.0:1.0:0.0:0.0	.	65	Q5T751	LCE1C_HUMAN	W	65	ENSP00000357757:G65W	ENSP00000357757:G65W	G	-	1	0	LCE1C	151044386	0.657000	0.27393	0.858000	0.33744	0.812000	0.45895	1.720000	0.38022	1.838000	0.53458	0.596000	0.82720	GGG		0.657	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		12	149	1	0	4.36969e-10	0.001855	6.07798e-10	12	149				
ASH1L	55870	broad.mit.edu	37	1	155330133	155330133	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:155330133T>A	ENST00000368346.3	-	13	7408	c.6769A>T	c.(6769-6771)Act>Tct	p.T2257S	RNU6-106P_ENST00000384405.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.T2252S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2257	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TAATCATAAGTGAGTTCAGTC	0.368																																							uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(6769-6771)ACT>TCT		absent, small, or homeotic 1-like							106.0	105.0	105.0					1																	155330133		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155330133T>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6769A>T	1.37:g.155330133T>A	ENSP00000357330:p.Thr2257Ser					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.T2252S	p.T2257S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		13	7249	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2257			SET.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.6769A>T		.	.	.	.	.	.	.	.	.	.	T	31	5.102258	0.94245	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.84800	-1.9;-1.9	5.09	5.09	0.68999	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.88145	0.6358	L	0.56280	1.765	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.79784	0.993;0.974	D	0.89009	0.3427	10	0.54805	T	0.06	.	14.6962	0.69124	0.0:0.0:0.0:1.0	.	2257;2252	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	2257;2252	ENSP00000357330:T2257S;ENSP00000376204:T2252S	ENSP00000357330:T2257S	T	-	1	0	ASH1L	153596757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.133000	0.65898	0.533000	0.62120	ACT		0.368	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	122	0	0	0	0.010729	0	7	122				
SMG5	23381	broad.mit.edu	37	1	156222835	156222835	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:156222835T>A	ENST00000361813.5	-	18	2681	c.2537A>T	c.(2536-2538)cAg>cTg	p.Q846L	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGCCTTGGGCTGCTGCAGGCT	0.672																																							uc001foc.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(2536-2538)CAG>CTG		SMG5 homolog nonsense mediated mRNA decay							73.0	56.0	61.0					1																	156222835		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156222835T>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2537A>T	1.37:g.156222835T>A	ENSP00000355261:p.Gln846Leu					SMG5_uc009wrv.2_Missense_Mutation_p.Q331L	p.Q846L	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			18	2686	-	Hepatocellular(266;0.158)		846					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.2537A>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189813	0.78789	.	.	ENSG00000198952	ENST00000361813	T	0.33865	1.39	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.44542	1.39	0.80722	D	1	D;B	0.63880	0.993;0.018	D;B	0.72338	0.977;0.024	T	0.23797	-1.0178	10	0.39692	T	0.17	-11.4374	15.4788	0.75508	0.0:0.0:0.0:1.0	.	115;846	Q96SX4;Q9UPR3	.;SMG5_HUMAN	L	846	ENSP00000355261:Q846L	ENSP00000355261:Q846L	Q	-	2	0	SMG5	154489459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.233000	0.78125	2.333000	0.79357	0.533000	0.62120	CAG		0.672	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		3	19	0	0	0	0.004672	0	3	19				
NES	10763	broad.mit.edu	37	1	156642334	156642334	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:156642334A>G	ENST00000368223.3	-	4	1778	c.1646T>C	c.(1645-1647)cTg>cCg	p.L549P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	549	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCTCTCCCAGAGACTTCAG	0.458																																							uc001fpq.2		NA																	0				ovary(6)	6						c.(1645-1647)CTG>CCG		nestin							59.0	65.0	63.0					1																	156642334		2203	4299	6502	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642334A>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1646T>C	1.37:g.156642334A>G	ENSP00000357206:p.Leu549Pro						p.L549P	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1779	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		549			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1646T>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471355	0.63737	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.86230	-2.09	4.74	2.3	0.28687	.	0.357397	0.16199	N	0.225010	D	0.85944	0.5815	M	0.74647	2.275	0.53005	D	0.999969	D	0.64830	0.994	P	0.58077	0.832	D	0.84100	0.0395	10	0.54805	T	0.06	.	4.9391	0.13956	0.7136:0.1872:0.0992:0.0	.	549	P48681	NEST_HUMAN	P	549	ENSP00000357206:L549P	ENSP00000255024:L549P	L	-	2	0	NES	154908958	0.000000	0.05858	0.823000	0.32752	0.406000	0.30931	0.338000	0.19858	0.825000	0.34637	0.377000	0.23210	CTG		0.458	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		23	31	0	0	0	0.003954	0	23	31				
CD1E	913	broad.mit.edu	37	1	158325717	158325717	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:158325717G>A	ENST00000368167.3	+	4	965	c.726G>A	c.(724-726)gtG>gtA	p.V242V	CD1E_ENST00000368164.3_Silent_p.V53V|CD1E_ENST00000444681.2_Silent_p.V143V|CD1E_ENST00000368157.1_Silent_p.V53V|CD1E_ENST00000368154.1_Silent_p.V53V|CD1E_ENST00000368166.3_Silent_p.V53V|CD1E_ENST00000368155.3_Silent_p.V152V|CD1E_ENST00000368163.3_Silent_p.V242V|CD1E_ENST00000434258.1_Silent_p.V240V|CD1E_ENST00000368161.3_Silent_p.V242V|CD1E_ENST00000368156.1_Silent_p.V152V|CD1E_ENST00000452291.2_Silent_p.V53V|CD1E_ENST00000368160.3_Silent_p.V242V|CD1E_ENST00000368165.3_Silent_p.V152V	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	242	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCGTGTGGGTGATGTGGATGC	0.627																																							uc001fse.2		NA																	0				skin(3)	3						c.(724-726)GTG>GTA		CD1E antigen isoform a precursor							87.0	85.0	86.0					1																	158325717		2203	4300	6503	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325717G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.726G>A	1.37:g.158325717G>A						CD1E_uc010pid.1_Silent_p.V240V|CD1E_uc010pie.1_Silent_p.V143V|CD1E_uc010pif.1_Silent_p.V53V|CD1E_uc001fsd.2_Silent_p.V242V|CD1E_uc001fsk.2_Silent_p.V152V|CD1E_uc001fsj.2_Silent_p.V152V|CD1E_uc001fsc.2_Silent_p.V53V|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Silent_p.V53V|CD1E_uc001fsf.2_Silent_p.V242V|CD1E_uc001fry.2_Silent_p.V242V|CD1E_uc001fsg.2_Silent_p.V53V|CD1E_uc001fsh.2_Silent_p.V53V|CD1E_uc001fsi.2_Silent_p.V242V|CD1E_uc009wsv.2_Silent_p.V143V|CD1E_uc001frz.2_Silent_p.V152V|CD1E_uc009wsw.2_5'UTR	p.V242V	NM_030893	NP_112155	P15812	CD1E_HUMAN			4	965	+	all_hematologic(112;0.0378)		242			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.726G>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495079	0.26774	.	.	ENSG00000158488	ENST00000368162	.	.	.	4.83	2.86	0.33363	.	.	.	.	.	T	0.48768	0.1518	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45789	-0.9237	4	.	.	.	-12.46	11.453	0.50164	0.0:0.4393:0.5607:0.0	.	.	.	.	N	12	.	.	D	+	1	0	CD1E	156592341	0.995000	0.38212	0.999000	0.59377	0.995000	0.86356	0.521000	0.22893	0.542000	0.28846	0.563000	0.77884	GAT		0.627	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		15	182	0	0	0	0.00499	0	15	182				
SPTA1	6708	broad.mit.edu	37	1	158623125	158623125	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:158623125G>A	ENST00000368147.4	-	22	3307	c.3127C>T	c.(3127-3129)Cca>Tca	p.P1043S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1043					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)			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)					CGCCGCTGTGGGAGCATCGGG	0.552																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3127-3129)CCA>TCA		spectrin, alpha, erythrocytic 1							108.0	109.0	109.0					1																	158623125		2009	4189	6198	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.chr1:158623125G>A	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.3127C>T	1.37:g.158623125G>A	ENSP00000357129:p.Pro1043Ser						p.P1043S	NM_003126	NP_003117	P02549	SPTA1_HUMAN			22	3326	-	all_hematologic(112;0.0378)		1043					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3127C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	4.343	0.063065	0.08388	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.65732	-0.17;-0.17	5.15	4.2	0.49525	Src homology-3 domain (1);	0.000000	0.31976	N	0.006761	T	0.32010	0.0815	L	0.44542	1.39	0.24848	N	0.992429	B	0.12630	0.006	B	0.09377	0.004	T	0.12656	-1.0539	10	0.07813	T	0.8	.	15.7307	0.77800	0.0:0.1488:0.8512:0.0	.	1043	P02549	SPTA1_HUMAN	S	1043	ENSP00000357130:P1043S;ENSP00000357129:P1043S	ENSP00000357129:P1043S	P	-	1	0	SPTA1	156889749	1.000000	0.71417	0.321000	0.25320	0.095000	0.18619	4.412000	0.59787	2.692000	0.91855	0.655000	0.94253	CCA		0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		25	123	0	0	0	0.00632	0	25	123				
VSIG8	391123	broad.mit.edu	37	1	159832278	159832278	+	Missense_Mutation	SNP	C	C	A	rs142337981		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:159832278C>A	ENST00000368100.1	-	1	169	c.34G>T	c.(34-36)Gtg>Ttg	p.V12L	RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	12						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CTCAGGCACACGAGTAGAAGG	0.627																																							uc001fuh.2		NA																	0				central_nervous_system(1)	1						c.(34-36)GTG>TTG		V-set and immunoglobulin domain containing 8			LEU/VAL	1,4405	2.1+/-5.4	0,1,2202	145.0	127.0	133.0		34	1.7	0.9	1	dbSNP_134	133	0,8600		0,0,4300	no	missense	VSIG8	NM_001013661.1	32	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	12/415	159832278	1,13005	2203	4300	6503	SO:0001583	missense	391123					integral to membrane		g.chr1:159832278C>A		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.34G>T	1.37:g.159832278C>A	ENSP00000357080:p.Val12Leu						p.V12L	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN			1	170	-	all_hematologic(112;0.0597)		12					Q5VU14	Missense_Mutation	SNP	ENST00000368100.1	37	c.34G>T	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	c	8.884	0.952339	0.18431	2.27E-4	0.0	ENSG00000243284	ENST00000368100	T	0.44083	0.93	4.87	1.72	0.24424	.	1.015480	0.07879	N	0.969290	T	0.06735	0.0172	N	0.08118	0	0.22996	N	0.998454	B	0.06786	0.001	B	0.06405	0.002	T	0.35674	-0.9779	9	.	.	.	.	3.9473	0.09353	0.0:0.5773:0.2009:0.2218	.	12	Q5VU13	VSIG8_HUMAN	L	12	ENSP00000357080:V12L	.	V	-	1	0	VSIG8	158098902	0.661000	0.27430	0.943000	0.38184	0.865000	0.49528	0.352000	0.20113	0.652000	0.30806	0.580000	0.79431	GTG		0.627	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		15	210	1	0	1.64113e-05	0.010504	1.92161e-05	15	210				
CASQ1	844	broad.mit.edu	37	1	160164819	160164819	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:160164819G>A	ENST00000368078.3	+	4	679	c.483G>A	c.(481-483)gtG>gtA	p.V161V	CASQ1_ENST00000368079.3_Silent_p.V155V			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	161					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGACCCTGTGGAATTGATTG	0.478																																							uc010pja.1		NA																	0				central_nervous_system(1)	1						c.(481-483)GTG>GTA		calsequestrin 1							121.0	112.0	115.0					1																	160164819		2203	4300	6503	SO:0001819	synonymous_variant	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160164819G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.483G>A	1.37:g.160164819G>A							p.V161V	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	740	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		161					B1AKZ2|B2R863|Q8TBW7	Silent	SNP	ENST00000368078.3	37	c.483G>A	CCDS1198.2																																																																																				0.478	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		7	67	0	0	0	0.004482	0	7	67				
LY9	4063	broad.mit.edu	37	1	160797585	160797585	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:160797585T>A	ENST00000263285.6	+	10	1977	c.1947T>A	c.(1945-1947)ccT>ccA	p.P649P	LY9_ENST00000368040.1_Silent_p.P264P|LY9_ENST00000341032.4_Silent_p.P515P|LY9_ENST00000392203.4_Silent_p.P559P|LY9_ENST00000368037.5_Silent_p.P635P|LY9_ENST00000368041.2_Silent_p.P520P			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	649					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGAAAGTCCTACCTATGAAA	0.493																																							uc001fwu.2		NA																	0				ovary(1)	1						c.(1945-1947)CCT>CCA		lymphocyte antigen 9 isoform a							142.0	146.0	144.0					1																	160797585		2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160797585T>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1947T>A	1.37:g.160797585T>A						LY9_uc001fwv.2_Silent_p.P635P|LY9_uc001fww.2_Silent_p.P559P|LY9_uc001fwx.2_Silent_p.P536P|LY9_uc001fwz.2_Silent_p.P264P	p.P649P	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		10	1997	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		649			Cytoplasmic (Potential).		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.1947T>A	CCDS30916.1																																																																																				0.493	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		18	158	0	0	0	0.012319	0	18	158				
NOS1AP	9722	broad.mit.edu	37	1	162337182	162337182	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:162337182G>T	ENST00000361897.5	+	10	1848	c.1446G>T	c.(1444-1446)gaG>gaT	p.E482D	NOS1AP_ENST00000530878.1_Missense_Mutation_p.E477D|NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000493151.1_Missense_Mutation_p.E187D|RP11-565P22.6_ENST00000431696.1_Intron	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	482					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GGTCCCAGGAGGAGCTGCCGC	0.647																																							uc001gbv.2		NA																	0				lung(2)|upper_aerodigestive_tract(1)	3						c.(1444-1446)GAG>GAT		nitric oxide synthase 1 (neuronal) adaptor							17.0	16.0	17.0					1																	162337182		2201	4293	6494	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162337182G>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1446G>T	1.37:g.162337182G>T	ENSP00000355133:p.Glu482Asp					NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.E477D|NOS1AP_uc009wut.1_Missense_Mutation_p.E187D	p.E482D	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		10	1833	+	all_hematologic(112;0.203)		482					B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.1446G>T	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802255	0.50315	.	.	ENSG00000198929	ENST00000530878;ENST00000361897;ENST00000493151	T;T	0.78924	-1.22;-1.22	4.99	-2.21	0.06973	.	0.266859	0.42294	D	0.000724	T	0.38931	0.1059	N	0.19112	0.55	.	.	.	B;B;B	0.15719	0.004;0.014;0.002	B;B;B	0.12156	0.007;0.003;0.004	T	0.04522	-1.0945	9	0.56958	D	0.05	.	7.2224	0.25994	0.177:0.0:0.7044:0.1186	.	187;477;482	Q3T551;B7ZLF5;O75052	.;.;CAPON_HUMAN	D	477;482;187	ENSP00000431586:E477D;ENSP00000355133:E482D	ENSP00000355133:E482D	E	+	3	2	NOS1AP	160603806	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	0.558000	0.23469	-0.557000	0.06126	-0.140000	0.14226	GAG		0.647	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		9	6	1	0	1.58986e-06	0.008291	1.94395e-06	9	6				
LMX1A	4009	broad.mit.edu	37	1	165322350	165322350	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:165322350G>T	ENST00000342310.3	-	3	608	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	LMX1A_ENST00000367893.4_Silent_p.R76R|LMX1A_ENST00000294816.2_Silent_p.R76R	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	76	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TTCTTGTCCCGGTAGAAGCAG	0.602																																							uc001gcy.1		NA																	0		p.R76L(1)		central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(226-228)CGG>AGG		LIM homeobox transcription factor 1, alpha							90.0	92.0	91.0					1																	165322350		2203	4300	6503	SO:0001819	synonymous_variant	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165322350G>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.226C>A	1.37:g.165322350G>T						LMX1A_uc001gcz.1_Silent_p.R76R	p.R76R	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			2	447	-	all_hematologic(923;0.248)		76			LIM zinc-binding 1.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	c.226C>A	CCDS1247.1																																																																																				0.602	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		14	121	1	0	6.72482e-11	0.003163	9.67861e-11	14	121				
MAEL	84944	broad.mit.edu	37	1	166985467	166985467	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:166985467G>C	ENST00000367872.4	+	9	1098	c.854G>C	c.(853-855)tGg>tCg	p.W285S	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.W254S	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	285					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AGGTGCAAGTGGCATGAAGAA	0.328																																							uc001gdy.1		NA																	0				skin(1)	1						c.(853-855)TGG>TCG		maelstrom homolog							146.0	145.0	145.0					1																	166985467		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166985467G>C	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.854G>C	1.37:g.166985467G>C	ENSP00000356846:p.Trp285Ser					MAEL_uc001gdz.1_Missense_Mutation_p.W254S|MAEL_uc009wvf.1_RNA	p.W285S	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			9	925	+			285					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.854G>C	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200502	0.58126	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.52754	0.65;0.65;0.72	4.66	4.66	0.58398	.	0.000000	0.51477	D	0.000086	T	0.44052	0.1275	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.71656	0.974;0.968	T	0.51012	-0.8759	10	0.87932	D	0	.	12.9241	0.58249	0.0:0.0:1.0:0.0	.	254;285	E9JVC3;Q96JY0	.;MAEL_HUMAN	S	285;254;254;7	ENSP00000356846:W285S;ENSP00000356844:W254S;ENSP00000402143:W254S	ENSP00000356844:W254S	W	+	2	0	MAEL	165252091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.921000	0.63397	2.432000	0.82394	0.591000	0.81541	TGG		0.328	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		33	53	0	0	0	0.007835	0	33	53				
PRRC2C	23215	broad.mit.edu	37	1	171509543	171509543	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:171509543G>A	ENST00000338920.4	+	16	3169	c.2932G>A	c.(2932-2934)Gga>Aga	p.G978R	PRRC2C_ENST00000392078.3_Missense_Mutation_p.G980R|PRRC2C_ENST00000426496.2_Missense_Mutation_p.G978R|PRRC2C_ENST00000367742.3_Missense_Mutation_p.G980R	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	978					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ATCTTCTGAAGGACCAAAACC	0.403																																							uc010pmg.1		NA																	0					0						c.(2932-2934)GGA>AGA		HBxAg transactivated protein 2							24.0	24.0	24.0					1																	171509543		2203	4299	6502	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509543G>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2932G>A	1.37:g.171509543G>A	ENSP00000343629:p.Gly978Arg					BAT2L2_uc010pmh.1_5'UTR	p.G978R	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	3198	+			978					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2932G>A	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386717	0.25031	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.98	5.98	0.97165	.	0.000000	0.45867	D	0.000333	T	0.14485	0.0350	L	0.32530	0.975	0.53688	D	0.999973	D	0.89917	1.0	D	0.71414	0.973	T	0.02398	-1.1165	10	0.49607	T	0.09	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	978	Q9Y520-4	.	R	980;979;978;980;978;735;737	ENSP00000375928:G980R;ENSP00000410219:G978R;ENSP00000356716:G980R;ENSP00000343629:G978R	ENSP00000343629:G978R	G	+	1	0	PRRC2C	169776167	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.767000	0.68850	2.835000	0.97688	0.650000	0.86243	GGA		0.403	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		6	6	0	0	0	0.001168	0	6	6				
RC3H1	149041	broad.mit.edu	37	1	173949963	173949963	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:173949963T>A	ENST00000367696.2	-	6	1304	c.953A>T	c.(952-954)cAg>cTg	p.Q318L	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q318L|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q318L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	318					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AATAATGGACTGCATATGAGA	0.388																																							uc001gju.3		NA																	0				ovary(2)	2						c.(952-954)CAG>CTG		roquin							85.0	75.0	79.0					1																	173949963		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173949963T>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.953A>T	1.37:g.173949963T>A	ENSP00000356669:p.Gln318Leu					RC3H1_uc010pms.1_Missense_Mutation_p.Q318L|RC3H1_uc001gjv.2_Missense_Mutation_p.Q318L|RC3H1_uc010pmt.1_Missense_Mutation_p.Q318L	p.Q318L	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			5	1040	-			318					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.953A>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	31	5.090408	0.94149	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.94966	-3.57;-3.57;-3.57	5.91	5.91	0.95273	.	0.048854	0.85682	D	0.000000	D	0.97028	0.9029	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	0.993;0.993;0.996;1.0	D;D;D;D	0.83275	0.977;0.977;0.99;0.996	D	0.97582	1.0111	10	0.87932	D	0	-9.7422	16.3514	0.83213	0.0:0.0:0.0:1.0	.	318;318;318;318	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	L	318	ENSP00000356669:Q318L;ENSP00000258349:Q318L;ENSP00000356667:Q318L	ENSP00000258349:Q318L	Q	-	2	0	RC3H1	172216586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.977000	0.88081	2.252000	0.74401	0.533000	0.62120	CAG		0.388	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		14	26	0	0	0	0.001855	0	14	26				
TNR	7143	broad.mit.edu	37	1	175375626	175375626	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:175375626C>A	ENST00000367674.2	-	3	933	c.225G>T	c.(223-225)ttG>ttT	p.L75F	TNR_ENST00000263525.2_Missense_Mutation_p.L75F			Q92752	TENR_HUMAN	tenascin R	75					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)				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)					AGAGGTTGTCCAAGGGCACGT	0.562																																							uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(223-225)TTG>TTT		tenascin R precursor							221.0	185.0	197.0					1																	175375626		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375626C>A	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.225G>T	1.37:g.175375626C>A	ENSP00000356646:p.Leu75Phe					TNR_uc009wwu.1_Missense_Mutation_p.L75F|TNR_uc010pmz.1_Missense_Mutation_p.L75F	p.L75F	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	306	-	Renal(580;0.146)		75					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.225G>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782121	0.70222	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.30981	1.51;1.51	5.27	1.21	0.21127	.	0.366463	0.26159	N	0.025984	T	0.37046	0.0989	L	0.55481	1.735	0.39266	D	0.964307	D;D	0.63880	0.993;0.986	P;P	0.59288	0.855;0.839	T	0.18713	-1.0328	10	0.42905	T	0.14	.	4.4622	0.11671	0.1259:0.6123:0.1219:0.1399	.	75;75	B4DIX8;Q92752	.;TENR_HUMAN	F	75	ENSP00000356646:L75F;ENSP00000263525:L75F	ENSP00000263525:L75F	L	-	3	2	TNR	173642249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.705000	0.37867	0.219000	0.20840	0.555000	0.69702	TTG		0.562	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		16	129	1	0	2.23348e-06	0.004007	2.71888e-06	16	129				
ASTN1	460	broad.mit.edu	37	1	177001936	177001936	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:177001936A>T	ENST00000367654.3	-	3	732	c.521T>A	c.(520-522)cTg>cAg	p.L174Q	ASTN1_ENST00000424564.2_Missense_Mutation_p.L174Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.L174Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.L174Q|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	174					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGAGTATACAGGATCATCAC	0.582																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(520-522)CTG>CAG		astrotactin isoform 1							50.0	48.0	48.0					1																	177001936		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001936A>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.521T>A	1.37:g.177001936A>T	ENSP00000356626:p.Leu174Gln					ASTN1_uc001glb.1_Missense_Mutation_p.L174Q|ASTN1_uc001gld.1_Missense_Mutation_p.L174Q|ASTN1_uc009wwx.1_Missense_Mutation_p.L174Q|ASTN1_uc001gle.3_RNA	p.L174Q	NM_004319	NP_004310	O14525	ASTN1_HUMAN			3	733	-			174			Helical; (Potential).		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.521T>A		.	.	.	.	.	.	.	.	.	.	A	26.6	4.751346	0.89753	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.18960	2.18;2.6;2.6;2.19	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	T	0.07520	-1.0768	10	0.33940	T	0.23	-17.2178	15.3134	0.74053	1.0:0.0:0.0:0.0	.	174;174;174	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	Q	174	ENSP00000356629:L174Q;ENSP00000354536:L174Q;ENSP00000356626:L174Q;ENSP00000395041:L174Q	ENSP00000354536:L174Q	L	-	2	0	ASTN1	175268559	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.166000	0.94766	2.076000	0.62316	0.533000	0.62120	CTG		0.582	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		9	85	0	0	0	0.006214	0	9	85				
BRINP2	57795	broad.mit.edu	37	1	177242683	177242683	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:177242683C>T	ENST00000361539.4	+	5	1041	c.729C>T	c.(727-729)gtC>gtT	p.V243V	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	243	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TGGACTCAGTCAGTTCTGTCT	0.443																																							uc001glf.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(727-729)GTC>GTT		family with sequence similarity 5, member B							90.0	81.0	84.0					1																	177242683		2203	4300	6503	SO:0001819	synonymous_variant	57795					extracellular region		g.chr1:177242683C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.729C>T	1.37:g.177242683C>T						FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_Silent_p.V138V	p.V243V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			5	1041	+			243					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.729C>T	CCDS1320.1																																																																																				0.443	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		11	54	0	0	0	0.013537	0	11	54				
BRINP2	57795	broad.mit.edu	37	1	177250364	177250364	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:177250364G>T	ENST00000361539.4	+	8	2364	c.2052G>T	c.(2050-2052)caG>caT	p.Q684H	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	684					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											ACACCTTGCAGGTCTTTGGCT	0.478																																							uc001glf.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2050-2052)CAG>CAT		family with sequence similarity 5, member B							95.0	95.0	95.0					1																	177250364		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250364G>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2052G>T	1.37:g.177250364G>T	ENSP00000354481:p.Gln684His					FAM5B_uc001glg.2_Missense_Mutation_p.Q579H	p.Q684H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2364	+			684					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2052G>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786851	0.49997	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.17370	2.28	5.15	4.23	0.50019	.	0.057143	0.64402	D	0.000001	T	0.38639	0.1048	M	0.66939	2.045	0.53688	D	0.999977	D;D	0.71674	0.998;0.99	D;P	0.70487	0.969;0.778	T	0.25222	-1.0138	10	0.87932	D	0	-20.7991	13.5042	0.61476	0.0775:0.0:0.9224:0.0	.	579;684	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	H	437;684	ENSP00000354481:Q684H	ENSP00000354481:Q684H	Q	+	3	2	FAM5B	175516987	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.951000	0.40333	1.147000	0.42369	0.305000	0.20034	CAG		0.478	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		21	128	1	0	2.32416e-17	0.014323	3.8381e-17	21	128				
AXDND1	126859	broad.mit.edu	37	1	179504063	179504064	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:179504063_179504064GT>TA	ENST00000367618.3	+	25	3384_3385	c.2997_2998GT>TA	c.(2995-3000)agGTca>agTAca	p.999_1000RS>ST		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	999	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aagaagTCAGGTCAGCAGAAAA	0.342																																							uc001gmo.2		NA																	0					0						c.(2995-3000)AGGTCA>AGTACA		hypothetical protein LOC126859 isoform 1																																				SO:0001583	missense	126859							g.chr1:179504063_179504064GT>TA	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	Exception_encountered	1.37:g.179504063_179504064delinsTA	ENSP00000356590:p.R999_S1000delinsST					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.925_926RS>ST|C1orf125_uc009wxh.2_RNA	p.999_1000RS>ST	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			25	3124_3125	+			999_1000			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	DNP	ENST00000367618.3	37	c.2997_2998GT>TA	CCDS30948.1																																																																																				0.342	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		5	51	0	0	0	0.004672	0	5	51				
CACNA1E	777	broad.mit.edu	37	1	181705478	181705478	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:181705478G>T	ENST00000367573.2	+	22	3330	c.3330G>T	c.(3328-3330)gaG>gaT	p.E1110D	CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1110D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1061D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1091D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E1091D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1042D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E717D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1110					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						atgaggaggaggtggagaaga	0.512																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3328-3330)GAG>GAT		calcium channel, voltage-dependent, R type,							89.0	113.0	105.0					1																	181705478		2152	4254	6406	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181705478G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3330G>T	1.37:g.181705478G>T	ENSP00000356545:p.Glu1110Asp					CACNA1E_uc009wxs.2_Missense_Mutation_p.E998D|CACNA1E_uc001gox.1_Missense_Mutation_p.E336D|CACNA1E_uc009wxt.2_Missense_Mutation_p.E336D	p.E1110D	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			22	3495	+			1110			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3330G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	1.990	-0.431914	0.04669	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.28	-3.24	0.05094	.	1.518970	0.02958	N	0.142676	T	0.23410	0.0566	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.22382	-1.0218	10	0.23302	T	0.38	.	12.7283	0.57183	0.5779:0.0:0.4221:0.0	.	1091;1110;1110	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	D	1110;1091;1061;1042;717;1091;1110	ENSP00000356542:E1110D;ENSP00000434814:E1091D;ENSP00000350183:E1061D;ENSP00000351101:E1042D;ENSP00000356539:E717D;ENSP00000353222:E1091D;ENSP00000356545:E1110D	ENSP00000350183:E1061D	E	+	3	2	CACNA1E	179972101	0.001000	0.12720	0.008000	0.14137	0.101000	0.19017	-0.090000	0.11163	-0.510000	0.06523	-0.266000	0.10368	GAG		0.512	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	20	1	0	3.09899e-07	0.004482	3.88075e-07	7	20				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																							uc001gru.3		NA																	0				skin(1)	1						c.(2128-2130)AAA>AAG		proteoglycan 4 isoform A							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_uc001grt.3_Silent_p.K669K|PRG4_uc009wyl.2_Silent_p.K617K|PRG4_uc009wym.2_Silent_p.K576K|PRG4_uc010poo.1_Intron	p.K710K	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2181	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|43; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	181	0	0	0	0.009096	0	4	181				
PLA2G4A	5321	broad.mit.edu	37	1	186909147	186909147	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:186909147A>T	ENST00000367466.3	+	10	1106	c.954A>T	c.(952-954)aaA>aaT	p.K318N	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.K258N	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	318	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				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)			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)	TGAAGGAAAAAGTTAATACTG	0.373																																							uc001gsc.2		NA																	0				lung(2)|breast(1)	3						c.(952-954)AAA>AAT		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						154.0	144.0	148.0					1																	186909147		2203	4300	6503	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.chr1:186909147A>T	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.954A>T	1.37:g.186909147A>T	ENSP00000356436:p.Lys318Asn					PLA2G4A_uc010pos.1_Missense_Mutation_p.K258N	p.K318N	NM_024420	NP_077734	P47712	PA24A_HUMAN			10	1159	+			318			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.954A>T	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965146	0.53507	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.11930	2.73;2.73	5.67	2.99	0.34606	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.040784	0.85682	D	0.000000	T	0.23806	0.0576	L	0.41492	1.28	0.45995	D	0.9988	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.986	T	0.00503	-1.1701	10	0.41790	T	0.15	-28.8524	8.6413	0.33978	0.7227:0.0:0.2773:0.0	.	258;318	E7EU42;P47712	.;PA24A_HUMAN	N	318;258	ENSP00000356436:K318N;ENSP00000406892:K258N	ENSP00000356436:K318N	K	+	3	2	PLA2G4A	185175770	1.000000	0.71417	0.990000	0.47175	0.677000	0.39632	1.132000	0.31418	0.287000	0.22375	0.528000	0.53228	AAA		0.373	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		20	111	0	0	0	0.00278	0	20	111				
BRINP3	339479	broad.mit.edu	37	1	190068084	190068084	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:190068084G>T	ENST00000367462.3	-	8	1596	c.1365C>A	c.(1363-1365)gaC>gaA	p.D455E	BRINP3_ENST00000534846.1_Missense_Mutation_p.D353E	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	455					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GGGTGCGGTTGTCTGGTGCGC	0.627																																							uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1363-1365)GAC>GAA		family with sequence similarity 5, member C							68.0	63.0	65.0					1																	190068084		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190068084G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1365C>A	1.37:g.190068084G>T	ENSP00000356432:p.Asp455Glu					FAM5C_uc010pot.1_Missense_Mutation_p.D353E	p.D455E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1597	-	Prostate(682;0.198)		455					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1365C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	9.421	1.083073	0.20309	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.41065	1.01;1.01	5.65	3.44	0.39384	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	L	0.41824	1.3	0.46874	D	0.999233	D;D	0.56287	0.975;0.958	P;P	0.54664	0.758;0.577	T	0.19712	-1.0297	10	0.28530	T	0.3	.	10.8791	0.46927	0.1815:0.0:0.8185:0.0	.	353;455	B7Z260;Q76B58	.;FAM5C_HUMAN	E	455;353	ENSP00000356432:D455E;ENSP00000438022:D353E	ENSP00000356432:D455E	D	-	3	2	FAM5C	188334707	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	1.788000	0.38714	1.377000	0.46286	0.591000	0.81541	GAC		0.627	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		34	56	1	0	2.46105e-21	0.010818	4.25044e-21	34	56				
RGS18	64407	broad.mit.edu	37	1	192153519	192153519	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:192153519T>A	ENST00000367460.3	+	5	724	c.543T>A	c.(541-543)taT>taA	p.Y181*		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	181	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGAGTGTATCAGCTCATGG	0.398																																							uc001gsg.2		NA																	0				ovary(3)	3						c.(541-543)TAT>TAA		regulator of G-protein signalling 18							147.0	137.0	140.0					1																	192153519		2203	4300	6503	SO:0001587	stop_gained	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192153519T>A	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.543T>A	1.37:g.192153519T>A	ENSP00000356430:p.Tyr181*						p.Y181*	NM_130782	NP_570138	Q9NS28	RGS18_HUMAN			5	719	+			181			RGS.		B2RD23	Nonsense_Mutation	SNP	ENST00000367460.3	37	c.543T>A	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	T	34	5.356823	0.95854	.	.	ENSG00000150681	ENST00000367460	.	.	.	5.62	-0.735	0.11137	.	0.053083	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9334	0.47230	0.0:0.427:0.0:0.573	.	.	.	.	X	181	.	ENSP00000356430:Y181X	Y	+	3	2	RGS18	190420142	0.998000	0.40836	0.733000	0.30861	0.968000	0.65278	0.486000	0.22340	-0.393000	0.07739	-0.400000	0.06385	TAT		0.398	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		14	106	0	0	0	0.00499	0	14	106				
KCNT2	343450	broad.mit.edu	37	1	196227384	196227384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:196227384C>A	ENST00000294725.9	-	26	4066	c.3151G>T	c.(3151-3153)Gag>Tag	p.E1051*	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.E985*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.E984*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.E1027*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1051					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAGCAAGCTCTTGTCTTTCT	0.423																																							uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(3151-3153)GAG>TAG		potassium channel, subfamily T, member 2							110.0	113.0	112.0					1																	196227384		2203	4300	6503	SO:0001587	stop_gained	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227384C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3151G>T	1.37:g.196227384C>A	ENSP00000294725:p.Glu1051*					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.E984*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.E1027*|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Nonsense_Mutation_p.E555*	p.E1051*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			26	3211	-			1051			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	c.3151G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	41	9.135649	0.99077	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	5.96	5.96	0.96718	.	0.092847	0.46758	D	0.000276	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.7119	20.398	0.98986	0.0:1.0:0.0:0.0	.	.	.	.	X	1027;985;1051	.	ENSP00000294725:E1051X	E	-	1	0	KCNT2	194494007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.827000	0.97445	0.643000	0.83706	GAG		0.423	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		39	44	1	0	5.7616e-29	0.01441	1.03161e-28	39	44				
ASPM	259266	broad.mit.edu	37	1	197070775	197070775	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:197070775C>A	ENST00000367409.4	-	18	7862	c.7606G>T	c.(7606-7608)Gtt>Ttt	p.V2536F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2536	IQ 27. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCCTGAATAACCACAGCAGAA	0.343																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(7606-7608)GTT>TTT		asp (abnormal spindle)-like, microcephaly							87.0	85.0	86.0					1																	197070775		2202	4297	6499	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070775C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7606G>T	1.37:g.197070775C>A	ENSP00000356379:p.Val2536Phe					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.V384F	p.V2536F	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7863	-			2536			IQ 27.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7606G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	13.96	2.391736	0.42410	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.66460	-0.21	4.42	2.53	0.30540	.	0.377447	0.22422	N	0.060276	T	0.79834	0.4514	M	0.89715	3.055	0.25529	N	0.987294	P;D	0.57257	0.891;0.979	P;D	0.63381	0.698;0.914	T	0.69731	-0.5066	10	0.62326	D	0.03	.	5.9299	0.19132	0.1514:0.6861:0.0:0.1626	.	522;2536	E7EQ84;Q8IZT6	.;ASPM_HUMAN	F	2536;522	ENSP00000356379:V2536F	ENSP00000356376:V522F	V	-	1	0	ASPM	195337398	0.139000	0.22563	0.950000	0.38849	0.685000	0.39939	0.053000	0.14184	0.419000	0.25927	-0.260000	0.10688	GTT		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		5	96	1	0	5.18039e-06	0.00308	6.22398e-06	5	96				
ASPM	259266	broad.mit.edu	37	1	197073662	197073662	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:197073662T>C	ENST00000367409.4	-	18	4975	c.4719A>G	c.(4717-4719)agA>agG	p.R1573R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1573					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCTGTCTTGTCTCATTCTCC	0.338																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(4717-4719)AGA>AGG		asp (abnormal spindle)-like, microcephaly							78.0	75.0	76.0					1																	197073662		2202	4298	6500	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073662T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4719A>G	1.37:g.197073662T>C						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.R1573R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	4976	-			1573					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.4719A>G	CCDS1389.1																																																																																				0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		7	27	0	0	0	0.006214	0	7	27				
CRB1	23418	broad.mit.edu	37	1	197390932	197390932	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:197390932C>A	ENST00000367400.3	+	6	2109	c.1974C>A	c.(1972-1974)atC>atA	p.I658I	CRB1_ENST00000367399.2_Silent_p.I546I|CRB1_ENST00000367397.1_Silent_p.I39I|CRB1_ENST00000543483.1_Missense_Mutation_p.S288Y|CRB1_ENST00000535699.1_Silent_p.I589I|CRB1_ENST00000538660.1_Silent_p.I658I|CRB1_ENST00000544212.1_Silent_p.I139I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	658	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGAGAACATCTCGTCTGGCT	0.443																																							uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1972-1974)ATC>ATA		crumbs homolog 1 precursor							134.0	128.0	130.0					1																	197390932		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390932C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1974C>A	1.37:g.197390932C>A						CRB1_uc010poz.1_Silent_p.I589I|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.I546I|CRB1_uc010ppb.1_Silent_p.I658I|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.I139I|CRB1_uc001gub.1_Silent_p.I307I	p.I658I	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	2109	+			658			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1974C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753721	0.31046	.	.	ENSG00000134376	ENST00000543483	D	0.87179	-2.22	5.8	-5.35	0.02697	.	.	.	.	.	T	0.79545	0.4464	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.70601	-0.4827	6	0.66056	D	0.02	.	1.4352	0.02342	0.3239:0.275:0.0824:0.3186	.	.	.	.	Y	288	ENSP00000439579:S288Y	ENSP00000439579:S288Y	S	+	2	0	CRB1	195657555	0.918000	0.31147	0.000000	0.03702	0.001000	0.01503	0.273000	0.18662	-0.555000	0.06142	-0.859000	0.03014	TCT		0.443	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		20	160	1	0	9.86323e-18	0.003954	1.6386e-17	20	160				
PTPRC	5788	broad.mit.edu	37	1	198721820	198721820	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:198721820T>C	ENST00000367376.2	+	31	3593	c.3422T>C	c.(3421-3423)gTc>gCc	p.V1141A	PTPRC_ENST00000348564.6_Missense_Mutation_p.V982A|PTPRC_ENST00000352140.3_Missense_Mutation_p.V1093A|PTPRC_ENST00000442510.2_Missense_Mutation_p.V1143A|PTPRC_ENST00000594404.1_Missense_Mutation_p.V980A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1141	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGATTCAGGTCGTCAAACAA	0.448																																							uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3421-3423)GTC>GCC		protein tyrosine phosphatase, receptor type, C							79.0	79.0	79.0					1																	198721820		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198721820T>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3422T>C	1.37:g.198721820T>C	ENSP00000356346:p.Val1141Ala					PTPRC_uc001gus.1_Missense_Mutation_p.V1093A|PTPRC_uc001gut.1_Missense_Mutation_p.V980A	p.V1141A	NM_002838	NP_002829	P08575	PTPRC_HUMAN			31	3602	+			1141			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3422T>C		.	.	.	.	.	.	.	.	.	.	T	0.032	-1.325456	0.01309	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.82526	-1.62	6.02	-12.0	0.00017	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	1.670660	0.03153	N	0.168180	T	0.44117	0.1278	N	0.00966	-1.09	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.50276	-0.8847	10	0.09338	T	0.73	.	0.3975	0.00421	0.298:0.2726:0.1547:0.2746	.	982;1093;1141	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	A	1143;1093;1141;980	ENSP00000193532:V1093A	ENSP00000306782:V980A	V	+	2	0	PTPRC	196988443	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.534000	0.02212	-2.350000	0.00617	-0.924000	0.02725	GTC		0.448	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				19	34	0	0	0	0.006122	0	19	34				
KIF14	9928	broad.mit.edu	37	1	200522757	200522757	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:200522757T>A	ENST00000367350.4	-	30	5144	c.4706A>T	c.(4705-4707)cAg>cTg	p.Q1569L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1569	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCTAGTTCCTGGTGGACAAT	0.398																																							uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(4705-4707)CAG>CTG		kinesin family member 14							105.0	98.0	101.0					1																	200522757		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200522757T>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4706A>T	1.37:g.200522757T>A	ENSP00000356319:p.Gln1569Leu					KIF14_uc010ppj.1_Missense_Mutation_p.Q1078L	p.Q1569L	NM_014875	NP_055690	Q15058	KIF14_HUMAN			30	5145	-			1569			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.4706A>T	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656440	0.29425	.	.	ENSG00000118193	ENST00000367350	T	0.72942	-0.7	5.5	1.13	0.20643	.	1.400950	0.04300	N	0.347106	T	0.50956	0.1646	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.37641	-0.9697	10	0.36615	T	0.2	.	7.1489	0.25599	0.0:0.4504:0.0:0.5496	.	1569	Q15058	KIF14_HUMAN	L	1569	ENSP00000356319:Q1569L	ENSP00000356319:Q1569L	Q	-	2	0	KIF14	198789380	0.000000	0.05858	0.035000	0.18076	0.020000	0.10135	0.020000	0.13466	0.169000	0.19679	-0.408000	0.06270	CAG		0.398	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		35	37	0	0	0	0.005524	0	35	37				
LMOD1	25802	broad.mit.edu	37	1	201869373	201869373	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:201869373T>C	ENST00000367288.4	-	2	1014	c.768A>G	c.(766-768)aaA>aaG	p.K256K	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	256	8 X approximate tandem repeats.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTTCCTCTTTTTACCTTCT	0.433																																							uc001gxb.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(766-768)AAA>AAG		leiomodin 1 (smooth muscle)							140.0	136.0	138.0					1																	201869373		1991	4163	6154	SO:0001819	synonymous_variant	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201869373T>C	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.768A>G	1.37:g.201869373T>C						LMOD1_uc010ppu.1_Silent_p.K205K	p.K256K	NM_012134	NP_036266	P29536	LMOD1_HUMAN			2	1016	-			256			8 X approximate tandem repeats.|6.		B1APV6|C4AMB1|Q68EN2	Silent	SNP	ENST00000367288.4	37	c.768A>G	CCDS53457.1																																																																																				0.433	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			9	25	0	0	0	0.010729	0	9	25				
CDK18	5129	broad.mit.edu	37	1	205495550	205495550	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:205495550C>T	ENST00000360066.2	+	7	928	c.627C>T	c.(625-627)atC>atT	p.I209I	CDK18_ENST00000429964.2_Silent_p.I209I|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.I239I	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ATGACCTCATCCACACAGATC	0.587																																					Pancreas(180;489 2072 28461 40831 44265)	Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2		NA																	0				stomach(2)	2						c.(715-717)ATC>ATT		PCTAIRE protein kinase 3 isoform a							165.0	137.0	146.0					1																	205495550		2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205495550C>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.627C>T	1.37:g.205495550C>T						CDK18_uc010pri.1_3'UTR|CDK18_uc001hcp.2_Silent_p.I209I|CDK18_uc001hcq.2_Silent_p.I209I|CDK18_uc010prj.1_Silent_p.I120I|CDK18_uc001hcs.2_Silent_p.I120I|CDK18_uc009xbm.1_Silent_p.I120I|CDK18_uc001hct.2_5'Flank	p.I239I	NM_212503	NP_997668	Q07002	CDK18_HUMAN			7	936	+			207			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.717C>T	CCDS44300.1																																																																																				0.587	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		9	271	0	0	0	0.004482	0	9	271				
C1orf116	79098	broad.mit.edu	37	1	207198390	207198390	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:207198390A>C	ENST00000359470.5	-	3	374	c.125T>G	c.(124-126)tTc>tGc	p.F42C	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	42						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGTGGACAGGAAGTCGTAGCT	0.612																																							uc001hfd.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(124-126)TTC>TGC		specifically androgen-regulated protein isoform							50.0	42.0	45.0					1																	207198390		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207198390A>C		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.125T>G	1.37:g.207198390A>C	ENSP00000352447:p.Phe42Cys					C1orf116_uc009xcb.1_5'UTR	p.F42C	NM_023938	NP_076427	Q9BW04	SARG_HUMAN			3	384	-	Prostate(682;0.19)		42					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.125T>G	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140983	0.77775	.	.	ENSG00000182795	ENST00000359470	T	0.12879	2.64	5.12	5.12	0.69794	.	0.147824	0.64402	D	0.000008	T	0.30947	0.0781	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03139	-1.1068	10	0.72032	D	0.01	-20.8399	8.4734	0.32999	0.7207:0.0:0.0:0.2793	.	42	Q9BW04	SARG_HUMAN	C	42	ENSP00000352447:F42C	ENSP00000352447:F42C	F	-	2	0	C1orf116	205265013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.453000	0.66645	1.923000	0.55706	0.533000	0.62120	TTC		0.612	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		28	47	0	0	0	0.009535	0	28	47				
C4BPB	725	broad.mit.edu	37	1	207265092	207265092	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:207265092C>T	ENST00000243611.5	+	3	630	c.336C>T	c.(334-336)atC>atT	p.I112I	C4BPB_ENST00000367078.3_Silent_p.I112I|C4BPB_ENST00000391923.1_Silent_p.I112I|C4BPB_ENST00000367076.3_Silent_p.I111I|C4BPB_ENST00000451804.2_Silent_p.I102I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	112	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						ACCACTACATCCTCAAGGGCA	0.488																																							uc001hfj.2		NA																	0				ovary(1)	1						c.(334-336)ATC>ATT		complement component 4 binding protein, beta							127.0	110.0	116.0					1																	207265092		2203	4300	6503	SO:0001819	synonymous_variant	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207265092C>T	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.336C>T	1.37:g.207265092C>T						C4BPB_uc001hfi.2_Silent_p.I111I|C4BPB_uc001hfk.2_Silent_p.I111I|C4BPB_uc001hfl.2_Silent_p.I112I|C4BPB_uc009xcd.2_Silent_p.I102I|C4BPB_uc001hfm.2_Silent_p.I112I|C4BPB_uc010pse.1_Silent_p.I102I	p.I112I	NM_001017365	NP_001017365	P20851	C4BPB_HUMAN			4	466	+			112			Sushi 2.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Silent	SNP	ENST00000243611.5	37	c.336C>T	CCDS1476.1																																																																																				0.488	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		9	92	0	0	0	0.004482	0	9	92				
HHAT	55733	broad.mit.edu	37	1	210761424	210761424	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:210761424C>T	ENST00000367010.1	+	10	1453	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	HHAT_ENST00000391905.3_Missense_Mutation_p.P409L|HHAT_ENST00000308852.6_Missense_Mutation_p.P364L|HHAT_ENST00000545154.1_Missense_Mutation_p.P410L|HHAT_ENST00000413764.2_Missense_Mutation_p.P409L|HHAT_ENST00000261458.3_Missense_Mutation_p.P409L|HHAT_ENST00000537898.1_Missense_Mutation_p.P344L|HHAT_ENST00000545781.1_Missense_Mutation_p.P346L|HHAT_ENST00000541565.1_Missense_Mutation_p.P272L|HHAT_ENST00000367009.1_Missense_Mutation_p.P99L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	409					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTGGAGACTCCCTGCATCCAG	0.577																																							uc009xcx.2		NA																	0				ovary(2)	2						c.(1225-1227)CCC>CTC		hedgehog acyltransferase							44.0	38.0	40.0					1																	210761424		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210761424C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1226C>T	1.37:g.210761424C>T	ENSP00000355977:p.Pro409Leu					HHAT_uc010psq.1_Missense_Mutation_p.P272L|HHAT_uc001hhz.3_Missense_Mutation_p.P409L|HHAT_uc010psr.1_Missense_Mutation_p.P410L|HHAT_uc010pss.1_Missense_Mutation_p.P364L|HHAT_uc009xcy.2_Missense_Mutation_p.P344L|HHAT_uc010pst.1_Missense_Mutation_p.P346L|HHAT_uc010psu.1_Missense_Mutation_p.P344L|HHAT_uc001hia.3_Missense_Mutation_p.P99L	p.P409L	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	10	1392	+			409					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.1226C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.338031	0.60963	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.69	4.75	0.60458	.	0.278938	0.37437	N	0.002100	T	0.64427	0.2597	L	0.44542	1.39	0.31504	N	0.664428	P;P;P;P;B	0.44521	0.608;0.688;0.837;0.571;0.4	B;B;B;B;B	0.43331	0.326;0.178;0.416;0.405;0.405	T	0.66516	-0.5904	10	0.23302	T	0.38	-25.7154	13.9891	0.64355	0.0:0.8491:0.1509:0.0	.	364;410;272;344;409	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	L	409;272;410;344;409;346;409;364;409;99	ENSP00000416845:P409L;ENSP00000444995:P272L;ENSP00000438468:P410L;ENSP00000442625:P344L;ENSP00000375773:P409L;ENSP00000439229:P346L;ENSP00000261458:P409L;ENSP00000308628:P364L;ENSP00000355977:P409L;ENSP00000355976:P99L	ENSP00000261458:P409L	P	+	2	0	HHAT	208828047	0.037000	0.19845	0.049000	0.19019	0.435000	0.31806	3.119000	0.50422	2.683000	0.91414	0.655000	0.94253	CCC		0.577	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		12	12	0	0	0	0.013537	0	12	12				
KCNH1	3756	broad.mit.edu	37	1	210971016	210971016	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:210971016C>A	ENST00000271751.4	-	9	1776	c.1749G>T	c.(1747-1749)cgG>cgT	p.R583R	KCNH1_ENST00000367007.4_Silent_p.R556R			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	583					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)			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)		CACTGGCCAGCCGGAAGGCCG	0.622																																							uc001hib.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1747-1749)CGG>CGT		potassium voltage-gated channel, subfamily H,							57.0	56.0	56.0					1																	210971016		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:210971016C>A	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.1749G>T	1.37:g.210971016C>A						KCNH1_uc001hic.2_Silent_p.R556R	p.R583R	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	9	1919	-			583			Cytoplasmic (Potential).|cNMP.		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.1749G>T	CCDS1496.1																																																																																				0.622	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		36	39	1	0	9.17885e-22	0.003271	1.59523e-21	36	39				
INTS7	25896	broad.mit.edu	37	1	212180034	212180034	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:212180034G>A	ENST00000366994.3	-	7	930	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	INTS7_ENST00000366992.3_Silent_p.L276L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.L227L|INTS7_ENST00000366993.3_Silent_p.L276L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	276					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		AGTAATTTCAGATCTTGAATA	0.313																																							uc001hiw.1		NA																	0					0						c.(826-828)CTG>TTG		integrator complex subunit 7							115.0	118.0	117.0					1																	212180034		2203	4300	6503	SO:0001819	synonymous_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212180034G>A	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.826C>T	1.37:g.212180034G>A						INTS7_uc009xdb.1_Silent_p.L276L|INTS7_uc001hix.1_Silent_p.L152L|INTS7_uc001hiy.1_Silent_p.L276L|INTS7_uc010pta.1_Silent_p.L227L	p.L276L	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	7	931	-			276					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Silent	SNP	ENST00000366994.3	37	c.826C>T	CCDS1501.1																																																																																				0.313	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		5	75	0	0	0	0.001168	0	5	75				
KCNK2	3776	broad.mit.edu	37	1	215368369	215368369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:215368369C>A	ENST00000444842.2	+	6	1047	c.897C>A	c.(895-897)taC>taA	p.Y299*	KCNK2_ENST00000391894.2_Nonsense_Mutation_p.Y284*|KCNK2_ENST00000391895.2_Nonsense_Mutation_p.Y295*	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	299					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GGCTTGCTTACTTTGCTGCTG	0.398																																							uc001hkq.2		NA																	0					0						c.(895-897)TAC>TAA		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						228.0	226.0	227.0					1																	215368369		2203	4300	6503	SO:0001587	stop_gained	3776						outward rectifier potassium channel activity	g.chr1:215368369C>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.897C>A	1.37:g.215368369C>A	ENSP00000394033:p.Tyr299*					KCNK2_uc001hko.2_Nonsense_Mutation_p.Y295*|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Nonsense_Mutation_p.Y284*	p.Y299*	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	6	1066	+			299			Helical; (Potential).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Nonsense_Mutation	SNP	ENST00000444842.2	37	c.897C>A	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915277	0.92178	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	.	.	.	4.98	3.07	0.35406	.	0.056306	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0918	0.42451	0.0:0.7778:0.0:0.2222	.	.	.	.	X	295;284;299	.	ENSP00000375764:Y284X	Y	+	3	2	KCNK2	213434992	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.650000	0.46665	0.583000	0.29574	0.557000	0.71058	TAC		0.398	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		27	237	1	0	6.00712e-18	0.012213	1.00401e-17	27	237				
USH2A	7399	broad.mit.edu	37	1	216500977	216500977	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:216500977T>A	ENST00000307340.3	-	5	1190	c.804A>T	c.(802-804)ggA>ggT	p.G268G	USH2A_ENST00000366942.3_Silent_p.G268G|USH2A_ENST00000366943.2_Silent_p.G268G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	268			G -> R (in USH2A; unknown pathological significance). {ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGCATTCTTCCGACAAACT	0.363										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(802-804)GGA>GGT		usherin isoform B							148.0	140.0	143.0					1																	216500977		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216500977T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.804A>T	1.37:g.216500977T>A		HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.G268G	p.G268G	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	5	1191	-			268		G -> R (in USH2A; uncertain pathogenicity).	Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.804A>T	CCDS31025.1																																																																																				0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		55	93	0	0	0	0.01441	0	55	93				
ESRRG	2104	broad.mit.edu	37	1	216850617	216850617	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:216850617C>A	ENST00000408911.3	-	2	426	c.273G>T	c.(271-273)ctG>ctT	p.L91L	ESRRG_ENST00000391890.3_Silent_p.L68L|ESRRG_ENST00000493748.1_Silent_p.L68L|ESRRG_ENST00000487276.1_Silent_p.L68L|ESRRG_ENST00000360012.3_Silent_p.L68L|ESRRG_ENST00000463665.1_Silent_p.L68L|ESRRG_ENST00000361395.2_Silent_p.L68L|ESRRG_ENST00000359162.2_Silent_p.L68L|ESRRG_ENST00000361525.3_Silent_p.L68L|ESRRG_ENST00000366938.2_Silent_p.L68L|ESRRG_ENST00000493603.1_Silent_p.L68L|ESRRG_ENST00000366940.2_Silent_p.L68L|ESRRG_ENST00000366937.1_Silent_p.L96L	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	91					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)			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)	CACTACCTCCCAGGATAGGAG	0.532																																							uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(271-273)CTG>CTT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						177.0	157.0	164.0					1																	216850617		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:216850617C>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.273G>T	1.37:g.216850617C>A						ESRRG_uc001hky.1_Silent_p.L68L|ESRRG_uc009xdp.1_Silent_p.L68L|ESRRG_uc001hkz.1_Silent_p.L68L|ESRRG_uc010puc.1_Silent_p.L68L|ESRRG_uc001hla.1_Silent_p.L68L|ESRRG_uc001hlb.1_Silent_p.L68L|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.L68L|ESRRG_uc001hld.1_Silent_p.L68L|ESRRG_uc001hkx.1_Silent_p.L96L|ESRRG_uc009xdo.1_Silent_p.L68L|ESRRG_uc001hle.1_Silent_p.L68L	p.L91L	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	439	-			91					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.273G>T	CCDS41468.1																																																																																				0.532	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		20	132	1	0	7.87624e-14	0.00278	1.21364e-13	20	132				
PRSS38	339501	broad.mit.edu	37	1	228033677	228033677	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:228033677T>C	ENST00000366757.3	+	5	773	c.749T>C	c.(748-750)gTc>gCc	p.V250A		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	250	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGCCCACTTGTCTGTGAATTC	0.582																																							uc001hrh.2		NA																	0				ovary(1)|pancreas(1)	2						c.(748-750)GTC>GCC		marapsin 2 precursor							50.0	56.0	54.0					1																	228033677		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228033677T>C		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.749T>C	1.37:g.228033677T>C	ENSP00000355719:p.Val250Ala						p.V250A	NM_183062	NP_898885	A1L453	PRS38_HUMAN			5	749	+			250			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.749T>C	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.434619	0.43224	.	.	ENSG00000185888	ENST00000366757	D	0.90385	-2.66	4.21	3.07	0.35406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.32328	N	0.006252	D	0.87755	0.6257	L	0.55017	1.72	0.36246	D	0.853605	P	0.36616	0.561	B	0.40285	0.325	D	0.87713	0.2568	10	0.66056	D	0.02	.	7.8426	0.29408	0.0:0.1018:0.0:0.8982	.	250	A1L453	PRS38_HUMAN	A	250	ENSP00000355719:V250A	ENSP00000355719:V250A	V	+	2	0	PRSS38	226100300	0.997000	0.39634	0.941000	0.38009	0.327000	0.28475	2.083000	0.41615	0.756000	0.33013	0.460000	0.39030	GTC		0.582	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		6	99	0	0	0	0.001984	0	6	99				
URB2	9816	broad.mit.edu	37	1	229773083	229773083	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:229773083G>T	ENST00000258243.2	+	4	2859	c.2723G>T	c.(2722-2724)aGc>aTc	p.S908I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	908						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGCTGGACAGCCTCTTGCCA	0.512																																							uc001hts.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2722-2724)AGC>ATC		URB2 ribosome biogenesis 2 homolog							211.0	202.0	205.0					1																	229773083		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773083G>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2723G>T	1.37:g.229773083G>T	ENSP00000258243:p.Ser908Ile					URB2_uc009xfd.1_Missense_Mutation_p.S908I	p.S908I	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	2859	+			908					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.2723G>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231767	0.39399	.	.	ENSG00000135763	ENST00000258243	T	0.37915	1.17	5.35	3.37	0.38596	.	0.193490	0.56097	D	0.000033	T	0.33440	0.0863	L	0.32530	0.975	0.43360	D	0.995435	P	0.50710	0.938	P	0.49226	0.603	T	0.04229	-1.0967	9	.	.	.	-12.1955	11.6589	0.51334	0.07:0.1242:0.8058:0.0	.	908	Q14146	URB2_HUMAN	I	908	ENSP00000258243:S908I	.	S	+	2	0	URB2	227839706	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	4.603000	0.61105	1.413000	0.46997	0.585000	0.79938	AGC		0.512	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		30	285	1	0	1.414e-09	0.003755	1.92165e-09	30	285				
ERO1LB	56605	broad.mit.edu	37	1	236399088	236399088	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:236399088C>A	ENST00000354619.5	-	8	875		c.e8+1			NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)						4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	GAAAAACCTACCTCGGCTAGG	0.294																																							uc001hxt.2		NA																	0					0						c.e8+1		endoplasmic reticulum oxidoreductin 1-Lbeta							60.0	63.0	62.0					1																	236399088		2203	4300	6503	SO:0001630	splice_region_variant	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236399088C>A	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.673+1G>T	1.37:g.236399088C>A							p.G225_splice	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		8	929	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)						B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Splice_Site	SNP	ENST00000354619.5	37	c.673_splice	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846840	0.71603	.	.	ENSG00000086619	ENST00000354619	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2366	0.98359	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERO1LB	234465711	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.133000	0.77259	2.792000	0.96026	0.557000	0.71058	.		0.294	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	Intron	27	29	1	0	1.1423e-28	0.009535	2.04088e-28	27	29				
RYR2	6262	broad.mit.edu	37	1	237947492	237947492	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:237947492G>T	ENST00000366574.2	+	90	12797	c.12480G>T	c.(12478-12480)tgG>tgT	p.W4160C	RYR2_ENST00000360064.6_Missense_Mutation_p.W4166C|RYR2_ENST00000542537.1_Missense_Mutation_p.W4144C|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4160					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACCCAGTGGGAGAAGCCCC	0.498																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12478-12480)TGG>TGT		cardiac muscle ryanodine receptor							91.0	95.0	93.0					1																	237947492		1951	4140	6091	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947492G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12480G>T	1.37:g.237947492G>T	ENSP00000355533:p.Trp4160Cys					RYR2_uc010pya.1_Missense_Mutation_p.W575C	p.W4160C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12600	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4160					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12480G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199396	0.79015	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97731	-4.51;-4.51;-4.51	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	D	0.98953	0.9644	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99709	1.1006	10	0.87932	D	0	.	19.4843	0.95024	0.0:0.0:1.0:0.0	.	1134;4160	B4DGV4;Q92736	.;RYR2_HUMAN	C	4160;4166;4144;1134	ENSP00000355533:W4160C;ENSP00000353174:W4166C;ENSP00000443798:W4144C	ENSP00000353174:W4166C	W	+	3	0	RYR2	236014115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.610000	0.88304	0.655000	0.94253	TGG		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	152	1	0	6.72482e-11	0.003163	9.67861e-11	13	152				
FMN2	56776	broad.mit.edu	37	1	240371243	240371243	+	Missense_Mutation	SNP	C	C	A	rs202165125	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:240371243C>A	ENST00000319653.9	+	5	3361	c.3131C>A	c.(3130-3132)cCg>cAg	p.P1044Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1044	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCACTT	0.731																																							uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3130-3132)CCG>CAG		formin 2							3.0	4.0	4.0					1																	240371243		1350	3007	4357	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371243C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3131C>A	1.37:g.240371243C>A	ENSP00000318884:p.Pro1044Gln					FMN2_uc010pye.1_Missense_Mutation_p.P1048Q	p.P1044Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3356	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1044			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3131C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	6.916	0.538716	0.13250	.	.	ENSG00000155816	ENST00000319653	T	0.58060	0.36	2.91	1.97	0.26223	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.207209	0.32852	N	0.005567	T	0.53270	0.1786	M	0.85859	2.78	0.24072	N	0.99598	B	0.26876	0.162	B	0.30105	0.111	T	0.49597	-0.8923	9	.	.	.	.	7.9577	0.30053	0.0:0.8767:0.0:0.1233	.	1044	Q9NZ56	FMN2_HUMAN	Q	1044	ENSP00000318884:P1044Q	.	P	+	2	0	FMN2	238437866	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.911000	0.28584	0.555000	0.29079	0.479000	0.44913	CCG		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		45	108	1	0	5.02462e-34	0.01441	9.11469e-34	45	108				
OR2B11	127623	broad.mit.edu	37	1	247614852	247614852	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:247614852A>C	ENST00000318749.6	-	1	456	c.433T>G	c.(433-435)Tgt>Ggt	p.C145G		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCTGCTGACAGAGAGCACGG	0.642																																							uc010pyx.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(433-435)TGT>GGT		olfactory receptor, family 2, subfamily B,							73.0	60.0	64.0					1																	247614852		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614852A>C		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.433T>G	1.37:g.247614852A>C	ENSP00000325682:p.Cys145Gly						p.C145G	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	433	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	145			Helical; Name=4; (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.433T>G	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967946	0.53507	.	.	ENSG00000177535	ENST00000318749	T	0.00224	8.51	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.110508	0.41097	D	0.000949	T	0.00815	0.0027	H	0.94542	3.55	0.40320	D	0.978811	D	0.89917	1.0	D	0.80764	0.994	T	0.54931	-0.8219	10	0.87932	D	0	.	12.9237	0.58247	1.0:0.0:0.0:0.0	.	145	Q5JQS5	OR2BB_HUMAN	G	145	ENSP00000325682:C145G	ENSP00000325682:C145G	C	-	1	0	OR2B11	245681475	0.000000	0.05858	0.166000	0.22797	0.750000	0.42670	0.390000	0.20768	2.219000	0.72066	0.450000	0.29827	TGT		0.642	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		8	81	0	0	0	0.008291	0	8	81				
OR2W5	441932	broad.mit.edu	37	1	247654948	247654948	+	RNA	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:247654948G>T	ENST00000522351.1	+	0	579							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GACGTCGCAGGGTGGACCACT	0.567																																							uc001icz.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(517-519)AGG>AGT		olfactory receptor, family 2, subfamily W,							132.0	119.0	123.0					1																	247654948		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654948G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654948G>T							p.R173S	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	519	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	173					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.519G>T																																																																																					0.567	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		26	131	1	0	7.01153e-11	0.007291	1.00738e-10	26	131				
OR2C3	81472	broad.mit.edu	37	1	247694880	247694880	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:247694880C>A	ENST00000366487.3	-	2	1295	c.934G>T	c.(934-936)Ggc>Tgc	p.G312C	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCTGCAGAGCCACAGCAGTTC	0.522																																							uc009xgy.2		NA																	0				ovary(1)|skin(1)	2						c.(934-936)GGC>TGC		olfactory receptor, family 2, subfamily C,							62.0	57.0	59.0					1																	247694880		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247694880C>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.934G>T	1.37:g.247694880C>A	ENSP00000355443:p.Gly312Cys					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.G312C	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1296	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	312			Cytoplasmic (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.934G>T	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358186	0.41801	.	.	ENSG00000196242	ENST00000366487	T	0.00472	7.19	3.91	0.834	0.18880	.	.	.	.	.	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.40098	-0.9581	9	0.62326	D	0.03	.	5.7256	0.18010	0.0:0.6482:0.1619:0.1899	.	312	Q8N628	OR2C3_HUMAN	C	312	ENSP00000355443:G312C	ENSP00000355443:G312C	G	-	1	0	OR2C3	245761503	0.001000	0.12720	0.018000	0.16275	0.021000	0.10359	0.346000	0.19997	0.060000	0.16281	-0.176000	0.13171	GGC		0.522	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		10	47	1	0	0.000673444	0.008291	0.000743389	10	47				
OR2G2	81470	broad.mit.edu	37	1	247751915	247751915	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:247751915T>A	ENST00000320065.1	+	1	254	c.254T>A	c.(253-255)cTg>cAg	p.L85Q	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			CCCCAGCTCCTGGTAAACCTG	0.517																																							uc010pyy.1		NA																	0					0						c.(253-255)CTG>CAG		olfactory receptor, family 2, subfamily G,							184.0	155.0	165.0					1																	247751915		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751915T>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.254T>A	1.37:g.247751915T>A	ENSP00000326349:p.Leu85Gln						p.L85Q	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	254	+	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)		85			Extracellular (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.254T>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881157	0.72294	.	.	ENSG00000177489	ENST00000320065	T	0.00421	7.46	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28618	U	0.014716	T	0.02418	0.0074	H	0.98818	4.34	0.20638	N	0.999879	D	0.89917	1.0	D	0.91635	0.999	T	0.21861	-1.0233	10	0.72032	D	0.01	.	11.4683	0.50252	0.0:0.0:0.0:1.0	.	85	Q8NGZ5	OR2G2_HUMAN	Q	85	ENSP00000326349:L85Q	ENSP00000326349:L85Q	L	+	2	0	OR2G2	245818538	0.939000	0.31865	0.928000	0.36995	0.983000	0.72400	6.046000	0.71029	1.789000	0.52484	0.481000	0.45027	CTG		0.517	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			4	135	0	0	0	0.009096	0	4	135				
TRIM58	25893	broad.mit.edu	37	1	248039556	248039556	+	Missense_Mutation	SNP	G	G	T	rs571276238		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248039556G>T	ENST00000366481.3	+	6	1274	c.1226G>T	c.(1225-1227)cGc>cTc	p.R409L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	409	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAAGTCCTCGCTGCATTGGG	0.478																																							uc001ido.2		NA																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1225-1227)CGC>CTC		tripartite motif-containing 58							157.0	162.0	160.0					1																	248039556		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039556G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1226G>T	1.37:g.248039556G>T	ENSP00000355437:p.Arg409Leu					OR2W3_uc001idp.1_Intron	p.R409L	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1274	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	409			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1226G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	6.385	0.439216	0.12104	.	.	ENSG00000162722	ENST00000366481	T	0.70631	-0.5	4.05	-0.204	0.13200	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.785486	0.11134	N	0.595961	T	0.68174	0.2972	L	0.60957	1.885	0.09310	N	1	P	0.38978	0.652	P	0.47376	0.545	T	0.56926	-0.7898	10	0.30078	T	0.28	.	4.6685	0.12676	0.3234:0.161:0.5156:0.0	.	409	Q8NG06	TRI58_HUMAN	L	409	ENSP00000355437:R409L	ENSP00000355437:R409L	R	+	2	0	TRIM58	246106179	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.163000	0.16520	-0.019000	0.14055	0.650000	0.86243	CGC		0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		37	303	1	0	2.1956e-27	0.004289	3.89754e-27	37	303				
OR2W3	343171	broad.mit.edu	37	1	248059502	248059502	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248059502G>T	ENST00000360358.3	+	1	614	c.614G>T	c.(613-615)gGt>gTt	p.G205V	OR2W3_ENST00000537741.1_Missense_Mutation_p.G205V	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGGCGGTGGGTGTTGTGCTG	0.577																																							uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(613-615)GGT>GTT		olfactory receptor, family 2, subfamily W,							189.0	166.0	174.0					1																	248059502		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059502G>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.614G>T	1.37:g.248059502G>T	ENSP00000353516:p.Gly205Val					OR2W3_uc010pzb.1_Missense_Mutation_p.G205V	p.G205V	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	883	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		205			Helical; Name=5; (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.614G>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	0.400	-0.918726	0.02396	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.34275	1.37;1.37	5.29	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.880860	0.09834	N	0.749823	T	0.10766	0.0263	N	0.00538	-1.39	0.09310	N	0.99999	B	0.09022	0.002	B	0.15052	0.012	T	0.27262	-1.0079	10	0.15952	T	0.53	.	7.5239	0.27643	0.0:0.2255:0.3274:0.4471	.	205	Q7Z3T1	OR2W3_HUMAN	V	205	ENSP00000445853:G205V;ENSP00000353516:G205V	ENSP00000353516:G205V	G	+	2	0	OR2W3	246126125	0.000000	0.05858	0.272000	0.24630	0.592000	0.36648	-0.070000	0.11523	1.294000	0.44707	0.609000	0.83330	GGT		0.577	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		23	270	1	0	1.66031e-10	0.003954	2.34479e-10	23	270				
OR2AK2	391191	broad.mit.edu	37	1	248129115	248129115	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248129115C>A	ENST00000366480.3	+	1	581	c.482C>A	c.(481-483)gCa>gAa	p.A161E	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTCATGGTTGCATGTGCATGG	0.413																																					Melanoma(45;390 1181 23848 28461 41504)	Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	0				ovary(1)|breast(1)	2						c.(481-483)GCA>GAA		olfactory receptor, family 2, subfamily AK,							231.0	204.0	213.0					1																	248129115		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129115C>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.482C>A	1.37:g.248129115C>A	ENSP00000355436:p.Ala161Glu					OR2L13_uc001ids.2_Intron	p.A161E	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	482	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		161			Helical; Name=4; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.482C>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	14.43	2.531923	0.45073	.	.	ENSG00000187080	ENST00000366480	T	0.42513	0.97	3.03	-5.48	0.02592	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.58250	0.2109	M	0.93978	3.48	0.09310	N	1	P	0.45634	0.863	P	0.51742	0.678	T	0.58200	-0.7678	9	0.87932	D	0	.	7.5071	0.27551	0.0:0.258:0.1256:0.6164	.	161	Q8NG84	O2AK2_HUMAN	E	161	ENSP00000355436:A161E	ENSP00000355436:A161E	A	+	2	0	OR2AK2	246195738	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.710000	0.05024	-1.263000	0.02455	0.455000	0.32223	GCA		0.413	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		26	320	1	0	1.04121e-07	0.005443	1.34032e-07	26	320				
OR2L2	26246	broad.mit.edu	37	1	248201698	248201698	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248201698C>A	ENST00000366479.2	+	1	225	c.129C>A	c.(127-129)tcC>tcA	p.S43S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAAATCTATCCATGATTCTTC	0.388																																							uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(127-129)TCC>TCA		olfactory receptor, family 2, subfamily L,							255.0	241.0	246.0					1																	248201698		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201698C>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.129C>A	1.37:g.248201698C>A						OR2L13_uc001ids.2_Intron	p.S43S	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	225	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		43			Helical; Name=1; (Potential).		Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.129C>A	CCDS31103.1																																																																																				0.388	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		42	388	1	0	7.88023e-25	0.01441	1.38994e-24	42	388				
OR2L13	284521	broad.mit.edu	37	1	248263103	248263103	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248263103G>T	ENST00000358120.2	+	2	571	c.426G>T	c.(424-426)aaG>aaT	p.K142N	OR2L13_ENST00000366478.2_Missense_Mutation_p.K142N			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGTGTGTGAAGATGATTGGAG	0.488																																							uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(424-426)AAG>AAT		olfactory receptor, family 2, subfamily L,							251.0	224.0	233.0					1																	248263103		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263103G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.426G>T	1.37:g.248263103G>T	ENSP00000350836:p.Lys142Asn						p.K142N	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	763	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		142			Helical; Name=4; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.426G>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	3.481	-0.105841	0.06924	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00091	8.74;8.74	4.31	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.443265	0.19107	N	0.122552	T	0.00109	0.0003	N	0.25332	0.735	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.43718	-0.9374	10	0.62326	D	0.03	.	1.2814	0.02041	0.2429:0.2743:0.3422:0.1406	.	142	Q8N349	OR2LD_HUMAN	N	142	ENSP00000355434:K142N;ENSP00000350836:K142N	ENSP00000350836:K142N	K	+	3	2	OR2L13	246329726	0.000000	0.05858	0.808000	0.32385	0.045000	0.14185	-0.477000	0.06583	0.430000	0.26230	0.650000	0.86243	AAG		0.488	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		30	383	1	0	9.65021e-13	0.010818	1.4572e-12	30	383				
OR2L13	284521	broad.mit.edu	37	1	248263467	248263467	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248263467C>A	ENST00000358120.2	+	2	935	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	OR2L13_ENST00000366478.2_Missense_Mutation_p.L264I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L264I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCCAGGAATCTCCGCTCACC	0.468																																							uc001ids.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(790-792)CTC>ATC		olfactory receptor, family 2, subfamily L,							119.0	118.0	118.0					1																	248263467		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263467C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.790C>A	1.37:g.248263467C>A	ENSP00000350836:p.Leu264Ile						p.L264I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1127	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		264			Extracellular (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.790C>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	3.641	-0.073628	0.07184	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00042	8.84;8.84	4.21	-0.155	0.13395	GPCR, rhodopsin-like superfamily (1);	0.207905	0.22233	N	0.062800	T	0.00109	0.0003	L	0.33245	0.995	0.09310	N	1	B	0.20261	0.043	B	0.33196	0.159	T	0.41805	-0.9488	10	0.56958	D	0.05	.	1.1183	0.01719	0.2503:0.3243:0.2543:0.171	.	264	Q8N349	OR2LD_HUMAN	I	264	ENSP00000355434:L264I;ENSP00000350836:L264I	ENSP00000350836:L264I	L	+	1	0	OR2L13	246330090	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	-0.896000	0.04114	0.081000	0.16988	-0.749000	0.03505	CTC		0.468	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		71	157	1	0	3.20846e-33	0.01441	5.80746e-33	71	157				
OR2M2	391194	broad.mit.edu	37	1	248344072	248344072	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248344072C>A	ENST00000359682.2	+	1	785	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACATACGGCCCACATCTGAT	0.517																																							uc010pzf.1		NA																	0				ovary(3)|skin(1)	4						c.(784-786)CCC>CAC		olfactory receptor, family 2, subfamily M,							220.0	196.0	204.0					1																	248344072		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344072C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.785C>A	1.37:g.248344072C>A	ENSP00000352710:p.Pro262His						p.P262H	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	785	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		262			Extracellular (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.785C>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	11.38	1.623161	0.28889	.	.	ENSG00000198601	ENST00000359682	T	0.00272	8.36	2.03	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.291472	0.18497	U	0.139466	T	0.01092	0.0036	H	0.97440	4.005	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.13522	-1.0506	10	0.87932	D	0	.	11.9796	0.53113	0.0:1.0:0.0:0.0	.	262	Q96R28	OR2M2_HUMAN	H	262	ENSP00000352710:P262H	ENSP00000352710:P262H	P	+	2	0	OR2M2	246410695	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	0.389000	0.20751	1.152000	0.42452	0.454000	0.30748	CCC		0.517	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		30	258	1	0	1.26612e-14	0.003271	1.99926e-14	30	258				
OR2M2	391194	broad.mit.edu	37	1	248344078	248344078	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248344078C>A	ENST00000359682.2	+	1	791	c.791C>A	c.(790-792)tCt>tAt	p.S264Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGGCCCACATCTGATCACTCC	0.522																																							uc010pzf.1		NA																	0				ovary(3)|skin(1)	4						c.(790-792)TCT>TAT		olfactory receptor, family 2, subfamily M,							219.0	195.0	203.0					1																	248344078		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344078C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.791C>A	1.37:g.248344078C>A	ENSP00000352710:p.Ser264Tyr						p.S264Y	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	791	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		264			Extracellular (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.791C>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	10.97	1.502575	0.26949	.	.	ENSG00000198601	ENST00000359682	T	0.00274	8.35	2.03	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.629638	0.12062	U	0.503083	T	0.00875	0.0029	H	0.94771	3.58	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.34304	-0.9834	10	0.87932	D	0	.	7.986	0.30212	0.4389:0.561:0.0:0.0	.	264	Q96R28	OR2M2_HUMAN	Y	264	ENSP00000352710:S264Y	ENSP00000352710:S264Y	S	+	2	0	OR2M2	246410701	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.441000	0.06879	0.171000	0.19730	0.454000	0.30748	TCT		0.522	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		32	251	1	0	1.47244e-24	0.00623	2.58614e-24	32	251				
OR2M3	127062	broad.mit.edu	37	1	248366722	248366722	+	Missense_Mutation	SNP	T	T	A	rs201167286		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248366722T>A	ENST00000456743.1	+	1	391	c.353T>A	c.(352-354)aTg>aAg	p.M118K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTGGCTGTTATGGCTTATGAC	0.453																																							uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(352-354)ATG>AAG		olfactory receptor, family 2, subfamily M,							232.0	236.0	235.0					1																	248366722		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366722T>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.353T>A	1.37:g.248366722T>A	ENSP00000389625:p.Met118Lys						p.M118K	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	353	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		118			Helical; Name=3; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.353T>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.506385	0.64410	.	.	ENSG00000228198	ENST00000456743	T	0.01159	5.25	2.55	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	U	0.001631	T	0.11836	0.0288	H	0.99464	4.58	0.35739	D	0.81852	D	0.57899	0.981	P	0.61592	0.891	T	0.34900	-0.9810	10	0.87932	D	0	.	10.4551	0.44546	0.0:0.0:0.0:1.0	.	118	Q8NG83	OR2M3_HUMAN	K	118	ENSP00000389625:M118K	ENSP00000389625:M118K	M	+	2	0	OR2M3	246433345	1.000000	0.71417	0.420000	0.26596	0.023000	0.10783	4.185000	0.58330	1.168000	0.42723	0.333000	0.21579	ATG		0.453	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		45	285	0	0	0	0.01441	0	45	285				
OR2T2	401992	broad.mit.edu	37	1	248616713	248616714	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:248616713_248616714GC>TA	ENST00000342927.3	+	1	637_638	c.615_616GC>TA	c.(613-618)gtGCtg>gtTAtg	p.L206M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTGCGTGCTGATGCTGCT	0.53																																							uc001iek.1		NA																	0				skin(1)	1						c.(613-618)GTGCTG>GTTATG		olfactory receptor, family 2, subfamily T,																																				SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616713_248616714GC>TA	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	Exception_encountered	1.37:g.248616713_248616714delinsTA	ENSP00000343062:p.Leu206Met						p.L206M	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	615_616	+	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)		206			Helical; Name=5; (Potential).		B2RNM1|B9EH01	Missense_Mutation	DNP	ENST00000342927.3	37	c.615_616GC>TA	CCDS31116.1																																																																																				0.530	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		30	67	0	0	0	0.004672	0	30	67				
AKR1E2	83592	broad.mit.edu	37	10	4872896	4872896	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:4872896G>A	ENST00000298375.7	+	2	140	c.69G>A	c.(67-69)gtG>gtA	p.V23V	AKR1E2_ENST00000334019.4_Silent_p.V23V|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000532248.1_Silent_p.V23V|AKR1E2_ENST00000345253.5_Silent_p.V23V	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	23						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CCGAGGCAGTGAAAGAGGCCA	0.502																																					NSCLC(43;343 1097 20371 28813 45509)	NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2		NA																	0					0						c.(67-69)GTG>GTA		aldo-keto reductase family 1, member E2							163.0	140.0	148.0					10																	4872896		2203	4300	6503	SO:0001819	synonymous_variant	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4872896G>A	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.69G>A	10.37:g.4872896G>A						AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Silent_p.V23V|AKR1E2_uc001ihh.1_Silent_p.V23V|AKR1E2_uc009xhw.2_Silent_p.V23V|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Silent_p.V23V	p.V23V	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			2	184	+			23					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	ENST00000298375.7	37	c.69G>A	CCDS31134.1																																																																																				0.502	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		7	87	0	0	0	0.004482	0	7	87				
ITIH5	80760	broad.mit.edu	37	10	7683904	7683904	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:7683904G>A	ENST00000256861.6	-	3	363	c.285C>T	c.(283-285)atC>atT	p.I95I	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397145.2_Silent_p.I95I|ITIH5_ENST00000397146.2_Silent_p.I95I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	95	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			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						TGAAGTTGGTGATGAAAGCTG	0.507																																							uc001ijq.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(283-285)ATC>ATT		inter-alpha trypsin inhibitor heavy chain							169.0	143.0	151.0					10																	7683904		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7683904G>A			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.285C>T	10.37:g.7683904G>A						ITIH5_uc001ijr.1_Silent_p.I95I	p.I95I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			3	364	-			95			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.285C>T																																																																																					0.507	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		6	103	0	0	0	0.006214	0	6	103				
ITGA8	8516	broad.mit.edu	37	10	15559227	15559227	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:15559227C>A	ENST00000378076.3	-	30	3475	c.3122G>T	c.(3121-3123)aGa>aTa	p.R1041I		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	1041					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGGTCTGGCTCTGTCAAAGAA	0.433																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(3121-3123)AGA>ATA		integrin, alpha 8 precursor							76.0	74.0	74.0					10																	15559227		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15559227C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.3122G>T	10.37:g.15559227C>A	ENSP00000367316:p.Arg1041Ile					ITGA8_uc010qcb.1_Missense_Mutation_p.R1026I	p.R1041I	NM_003638	NP_003629	P53708	ITA8_HUMAN			30	3122	-			1041			Cytoplasmic (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.3122G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483805	0.84854	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.99961	-9.24	6.07	6.07	0.98685	Integrin alpha chain, C-terminal cytoplasmic region, conserved site (2);	0.000000	0.85682	D	0.000000	D	0.99966	0.9987	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96542	0.9401	10	0.87932	D	0	.	18.8399	0.92180	0.0:1.0:0.0:0.0	.	1026;1041	F5H818;P53708	.;ITA8_HUMAN	I	1041;1026	ENSP00000367316:R1041I	ENSP00000367316:R1041I	R	-	2	0	ITGA8	15599233	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	6.197000	0.72100	2.885000	0.99019	0.655000	0.94253	AGA		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		9	35	1	0	4.68919e-08	0.008291	6.06449e-08	9	35				
CACNB2	783	broad.mit.edu	37	10	18787304	18787304	+	Silent	SNP	G	G	C	rs182163363	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:18787304G>C	ENST00000324631.7	+	4	414	c.354G>C	c.(352-354)gcG>gcC	p.A118A	CACNB2_ENST00000377328.1_Silent_p.A118A|CACNB2_ENST00000377315.4_Silent_p.A70A|CACNB2_ENST00000377329.4_Silent_p.A64A|CACNB2_ENST00000282343.8_Silent_p.A90A|CACNB2_ENST00000377331.2_Silent_p.A90A|CACNB2_ENST00000396576.2_Silent_p.A63A|CACNB2_ENST00000352115.6_Silent_p.A118A|CACNB2_ENST00000377319.3_Silent_p.A63A	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	118	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGCATTTGCGGTTCGGACAA	0.448																																							uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(352-354)GCG>GCC		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						116.0	102.0	107.0					10																	18787304		2203	4300	6503	SO:0001819	synonymous_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18787304G>C	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.354G>C	10.37:g.18787304G>C						CACNB2_uc009xjz.1_Silent_p.A118A|CACNB2_uc001ips.2_Silent_p.A118A|CACNB2_uc001ipt.2_Silent_p.A118A|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Silent_p.A90A|CACNB2_uc001ipv.2_Silent_p.A90A|CACNB2_uc009xka.1_Silent_p.A90A|CACNB2_uc001ipw.2_Silent_p.A63A|CACNB2_uc001ipx.2_Silent_p.A63A|CACNB2_uc009xkb.1_Silent_p.A64A|CACNB2_uc010qcm.1_Silent_p.A64A|CACNB2_uc001ipz.2_Silent_p.A64A|CACNB2_uc001ipy.2_Silent_p.A64A|CACNB2_uc010qcn.1_Silent_p.A70A|CACNB2_uc010qco.1_Silent_p.A70A|CACNB2_uc001iqa.2_Silent_p.A70A	p.A118A	NM_201596	NP_963890	Q08289	CACB2_HUMAN			4	414	+			118			SH3.		A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	ENST00000324631.7	37	c.354G>C	CCDS7125.1																																																																																				0.448	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		7	34	0	0	0	0.004482	0	7	34				
BMI1	648	broad.mit.edu	37	10	22615878	22615878	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:22615878G>T	ENST00000376663.3	+	3	677	c.172G>T	c.(172-174)Gtc>Ttc	p.V58F	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.V201F	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	58					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TATTTGTGATGTCCAAGTTCA	0.343																																							uc001irh.2		NA																	0				ovary(1)|skin(1)	2						c.(172-174)GTC>TTC		BMI1 polycomb ring finger oncogene							166.0	174.0	171.0					10																	22615878		2203	4300	6503	SO:0001583	missense	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22615878G>T	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.172G>T	10.37:g.22615878G>T	ENSP00000365851:p.Val58Phe					BMI1_uc009xkg.2_Missense_Mutation_p.V201F	p.V58F	NM_005180	NP_005171	P35226	BMI1_HUMAN			3	811	+			58					Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	c.172G>T	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164094	0.94727	.	.	ENSG00000168283	ENST00000417470;ENST00000376691;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820;ENST00000443519	T;T;T;T	0.68025	0.95;0.95;0.95;-0.3	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);	0.055130	0.64402	D	0.000001	D	0.82632	0.5079	M	0.79258	2.445	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.71870	0.975;0.943	D	0.83611	0.0134	10	0.62326	D	0.03	-4.9537	19.3831	0.94545	0.0:0.0:1.0:0.0	.	58;58	Q5U0M5;P35226	.;BMI1_HUMAN	F	58;42;58;58;58;58;35	ENSP00000365851:V58F;ENSP00000397912:V58F;ENSP00000399220:V58F;ENSP00000390768:V35F	ENSP00000365851:V58F	V	+	1	0	BMI1	22655884	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.689000	0.91719	0.650000	0.86243	GTC		0.343	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		24	111	1	0	9.80776e-20	0.00632	1.65931e-19	24	111				
KIAA1217	56243	broad.mit.edu	37	10	24832540	24832540	+	Missense_Mutation	SNP	C	C	G	rs140457046	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:24832540C>G	ENST00000376454.3	+	19	4371	c.4341C>G	c.(4339-4341)ttC>ttG	p.F1447L	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.F1130L|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1447					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCATCATTTTCGATGAGCCCA	0.443																																							uc001iru.3		NA																	0				ovary(5)|skin(2)	7						c.(4339-4341)TTC>TTG		sickle tail isoform 1							82.0	74.0	77.0					10																	24832540		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832540C>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4341C>G	10.37:g.24832540C>G	ENSP00000365637:p.Phe1447Leu					KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.F1130L|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.F283L	p.F1447L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			19	4744	+			1447					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.4341C>G	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445448	0.63178	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.37058	1.72;1.22	5.53	-5.29	0.02747	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.66939	2.045	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.641	D;D;B	0.85130	0.997;0.997;0.228	T	0.56074	-0.8039	10	0.49607	T	0.09	.	14.1136	0.65139	0.0:0.2158:0.0:0.7842	.	1130;1130;1447	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	L	1130;1447;1130;1130	ENSP00000365637:F1447L;ENSP00000365634:F1130L	ENSP00000365634:F1130L	F	+	3	2	KIAA1217	24872546	0.950000	0.32346	0.816000	0.32577	0.532000	0.34746	0.024000	0.13555	-0.881000	0.03992	-0.254000	0.11334	TTC		0.443	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		20	68	0	0	0	0.00632	0	20	68				
SVIL	6840	broad.mit.edu	37	10	29813479	29813479	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:29813479C>T	ENST00000355867.4	-	14	3260	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375400.3_Silent_p.R410R|SVIL_ENST00000375398.2_Silent_p.R836R	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	836					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.R836R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTATTCTGTTCCGGGTAGAAA	0.498																																							uc001iut.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(2506-2508)CGG>CGA		supervillin isoform 2							178.0	159.0	165.0					10																	29813479		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29813479C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2508G>A	10.37:g.29813479C>T						SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.R410R	p.R836R	NM_021738	NP_068506	O95425	SVIL_HUMAN			14	3261	-		Breast(68;0.103)	836					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.2508G>A	CCDS7164.1																																																																																				0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			19	73	0	0	0	0.012319	0	19	73				
ANKRD30A	91074	broad.mit.edu	37	10	37508039	37508039	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:37508039T>G	ENST00000602533.1	+	34	3330	c.3231T>G	c.(3229-3231)ttT>ttG	p.F1077L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F1077L|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.F1196L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1133					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATAAATACTTTGAGGACATTA	0.338																																							uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(3229-3231)TTT>TTG		ankyrin repeat domain 30A							89.0	90.0	89.0					10																	37508039		1815	4060	5875	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508039T>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3231T>G	10.37:g.37508039T>G	ENSP00000473551:p.Phe1077Leu						p.F1077L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3330	+			1133			Potential.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3231T>G		.	.	.	.	.	.	.	.	.	.	t	0.005	-2.140578	0.00332	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05025	3.51;3.51	2.81	-2.55	0.06288	.	.	.	.	.	T	0.03178	0.0093	L	0.28504	0.86	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47315	-0.9127	9	0.02654	T	1	.	3.8548	0.08971	0.3447:0.0:0.3492:0.3061	.	1133	Q9BXX3	AN30A_HUMAN	L	1077;1196	ENSP00000354432:F1077L;ENSP00000363792:F1196L	ENSP00000354432:F1077L	F	+	3	2	ANKRD30A	37548045	0.299000	0.24426	0.011000	0.14972	0.004000	0.04260	-0.158000	0.10070	-0.218000	0.10018	-0.750000	0.03501	TTT		0.338	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		22	67	0	0	0	0.00278	0	22	67				
RASSF4	83937	broad.mit.edu	37	10	45488724	45488724	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:45488724G>T	ENST00000340258.5	+	11	1026	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000334940.6_Missense_Mutation_p.A314S|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CAGGTTCCAAGCCCTGCGTCT	0.627																																							uc001jbo.2		NA																	0				large_intestine(1)	1						c.(913-915)GCC>TCC		Ras association domain family 4							76.0	58.0	64.0					10																	45488724		2203	4300	6503	SO:0001583	missense	83937				cell cycle|signal transduction		protein binding	g.chr10:45488724G>T	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.913G>T	10.37:g.45488724G>T	ENSP00000339692:p.Ala305Ser					RASSF4_uc001jbp.2_Missense_Mutation_p.A336S|RASSF4_uc009xmn.2_Missense_Mutation_p.A235S|RASSF4_uc001jbq.2_Missense_Mutation_p.A202S|RASSF4_uc001jbt.2_Missense_Mutation_p.A262S	p.A305S	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN			11	1047	+			305			SARAH.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	c.913G>T	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582229	0.46006	.	.	ENSG00000107551	ENST00000334940;ENST00000340258;ENST00000374411	T;T	0.14516	2.51;2.5	5.39	3.16	0.36331	SARAH (1);	0.353731	0.32372	N	0.006187	T	0.09642	0.0237	N	0.24115	0.695	0.80722	D	1	P;P;P	0.52577	0.775;0.954;0.819	B;P;B	0.47206	0.225;0.541;0.334	T	0.22521	-1.0214	10	0.10377	T	0.69	-22.4157	8.2096	0.31476	0.2319:0.0:0.7681:0.0	.	314;396;305	Q9H2L5-2;Q59FL4;Q9H2L5	.;.;RASF4_HUMAN	S	314;305;396	ENSP00000334543:A314S;ENSP00000339692:A305S	ENSP00000334543:A314S	A	+	1	0	RASSF4	44808730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.733000	0.38156	1.408000	0.46895	0.655000	0.94253	GCC		0.627	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		7	27	1	0	1.76689e-08	0.006214	2.31765e-08	7	27				
RBP3	5949	broad.mit.edu	37	10	48390663	48390663	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:48390663C>A	ENST00000224600.4	-	1	328	c.215G>T	c.(214-216)aGt>aTt	p.S72I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	72	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTCAGCACACTGGCCAGCGT	0.622																																							uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(214-216)AGT>ATT		retinol-binding protein 3 precursor	Vitamin A(DB00162)						52.0	52.0	52.0					10																	48390663		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390663C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.215G>T	10.37:g.48390663C>A	ENSP00000224600:p.Ser72Ile						p.S72I	NM_002900	NP_002891	P10745	RET3_HUMAN			1	329	-			72			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.215G>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724250	0.30593	.	.	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.71	0.526	0.17078	Interphotoreceptor retinol-binding, N-terminal (1);	1.052220	0.07365	N	0.884668	T	0.68311	0.2987	L	0.43152	1.355	0.09310	N	1	D	0.59357	0.985	P	0.59889	0.865	T	0.58589	-0.7610	10	0.87932	D	0	-0.1374	9.9312	0.41523	0.0:0.4386:0.0:0.5614	.	72	P10745	RET3_HUMAN	I	72	ENSP00000224600:S72I	ENSP00000224600:S72I	S	-	2	0	RBP3	48010669	0.000000	0.05858	0.104000	0.21259	0.479000	0.33129	-1.115000	0.03289	0.066000	0.16515	-0.345000	0.07892	AGT		0.622	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		10	64	1	0	0.000442599	0.006214	0.000490528	10	64				
FRMPD2	143162	broad.mit.edu	37	10	49393668	49393668	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:49393668T>A	ENST00000374201.3	-	18	2589	c.2287A>T	c.(2287-2289)Aag>Tag	p.K763*	FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.K731*|FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.K738*	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	763					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATAAAGCTCTTCCTCCTATTA	0.463																																							uc001jgi.2		NA																	0				large_intestine(1)	1						c.(2287-2289)AAG>TAG		FERM and PDZ domain containing 2 isoform 3							154.0	144.0	147.0					10																	49393668		2203	4300	6503	SO:0001587	stop_gained	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49393668T>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2287A>T	10.37:g.49393668T>A	ENSP00000363317:p.Lys763*					FRMPD2_uc001jgh.2_Nonsense_Mutation_p.K731*|FRMPD2_uc001jgj.2_Nonsense_Mutation_p.K741*	p.K763*	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	18	2394	-			763					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Nonsense_Mutation	SNP	ENST00000374201.3	37	c.2287A>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	39	7.475054	0.98306	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	5.29	0.0548	0.14312	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.6768	0.28490	0.0:0.5702:0.0:0.4298	.	.	.	.	X	763;738;731	.	ENSP00000307079:K738X	K	-	1	0	FRMPD2	49063674	0.004000	0.15560	0.000000	0.03702	0.021000	0.10359	0.356000	0.20181	0.020000	0.15106	0.533000	0.62120	AAG		0.463	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		13	61	0	0	0	0.004007	0	13	61				
PCDH15	65217	broad.mit.edu	37	10	55782702	55782702	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:55782702C>G	ENST00000320301.6	-	19	2870	c.2476G>C	c.(2476-2478)Gtc>Ctc	p.V826L	PCDH15_ENST00000361849.3_Missense_Mutation_p.V826L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V831L|PCDH15_ENST00000409834.1_Missense_Mutation_p.V437L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V804L|PCDH15_ENST00000373965.2_Missense_Mutation_p.V833L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V755L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.V833L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.V826L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V789L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V826L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V826L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	826	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAACAAGGACAGTGTATGTT	0.418										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2476-2478)GTC>CTC		protocadherin 15 isoform CD1-4 precursor							174.0	157.0	163.0					10																	55782702		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782702C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2476G>C	10.37:g.55782702C>G	ENSP00000322604:p.Val826Leu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.V831L|PCDH15_uc010qhr.1_Missense_Mutation_p.V826L|PCDH15_uc010qhs.1_Missense_Mutation_p.V838L|PCDH15_uc010qht.1_Missense_Mutation_p.V833L|PCDH15_uc010qhu.1_Missense_Mutation_p.V826L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V826L|PCDH15_uc010qhw.1_Missense_Mutation_p.V789L|PCDH15_uc010qhx.1_Missense_Mutation_p.V755L|PCDH15_uc010qhy.1_Missense_Mutation_p.V831L|PCDH15_uc010qhz.1_Missense_Mutation_p.V826L|PCDH15_uc010qia.1_Missense_Mutation_p.V804L|PCDH15_uc010qib.1_Missense_Mutation_p.V804L|PCDH15_uc001jjw.2_Missense_Mutation_p.V826L	p.V826L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			19	2871	-		Melanoma(3;0.117)|Lung SC(717;0.238)	826			Extracellular (Potential).|Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2476G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	c	18.46	3.629907	0.67015	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.39	4.49	0.54785	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68320	0.2988	L	0.58354	1.805	0.58432	D	0.999999	D;D;D;P;D;D;D;P;D;D;D;P;B;D	0.71674	0.998;0.997;0.988;0.616;0.966;0.997;0.998;0.942;0.97;0.983;0.975;0.942;0.142;0.997	D;D;D;P;P;D;D;P;P;D;P;P;B;D	0.85130	0.997;0.976;0.919;0.579;0.897;0.965;0.997;0.816;0.868;0.925;0.78;0.816;0.169;0.976	T	0.71573	-0.4552	9	0.66056	D	0.02	.	14.353	0.66716	0.0:0.9274:0.0:0.0725	.	804;826;826;831;755;789;826;826;833;833;826;831;826;826	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	833;831;826;826;437;833;789;826;804;826;826;831;755;826	ENSP00000363076:V833L;ENSP00000410304:V831L;ENSP00000378826:V826L;ENSP00000386693:V437L;ENSP00000378832:V833L;ENSP00000378820:V789L;ENSP00000354950:V826L;ENSP00000378821:V804L;ENSP00000322604:V826L;ENSP00000378818:V826L;ENSP00000412628:V755L;ENSP00000363066:V826L	ENSP00000322604:V826L	V	-	1	0	PCDH15	55452708	1.000000	0.71417	0.981000	0.43875	0.453000	0.32348	4.945000	0.63568	1.426000	0.47256	-0.336000	0.08194	GTC		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		28	111	0	0	0	0.009535	0	28	111				
BICC1	80114	broad.mit.edu	37	10	60588583	60588583	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:60588583G>T	ENST00000373886.3	+	21	2861	c.2857G>T	c.(2857-2859)Ggt>Tgt	p.G953C		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	953					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTCCTGGAAGGTGGAGCGAG	0.493																																							uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2857-2859)GGT>TGT		bicaudal C homolog 1							110.0	98.0	102.0					10																	60588583		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60588583G>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2857G>T	10.37:g.60588583G>T	ENSP00000362993:p.Gly953Cys						p.G953C	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			21	2857	+			953						Missense_Mutation	SNP	ENST00000373886.3	37	c.2857G>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.558793	0.65538	.	.	ENSG00000122870	ENST00000373886	T	0.32988	1.43	5.87	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	L	0.32530	0.975	0.80722	D	1	B	0.19583	0.037	B	0.22152	0.038	T	0.06481	-1.0824	10	0.87932	D	0	-16.1173	16.8932	0.86093	0.0:0.0:0.8708:0.1292	.	953	Q9H694	BICC1_HUMAN	C	953	ENSP00000362993:G953C	ENSP00000362993:G953C	G	+	1	0	BICC1	60258589	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.236000	0.95360	1.623000	0.50342	0.655000	0.94253	GGT		0.493	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		8	49	1	0	4.68919e-08	0.008291	6.06449e-08	8	49				
ZNF365	22891	broad.mit.edu	37	10	64136238	64136238	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:64136238C>A	ENST00000395254.3	+	2	566	c.286C>A	c.(286-288)Ccg>Acg	p.P96T	ZNF365_ENST00000395255.3_Missense_Mutation_p.P96T|ZNF365_ENST00000410046.3_Missense_Mutation_p.P96T|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	55										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAAGCAGAAACCGAGCTATGT	0.483																																							uc001jmc.2		NA																	0				ovary(1)|skin(1)	2						c.(286-288)CCG>ACG		zinc finger protein 365 isoform C							124.0	110.0	115.0					10																	64136238		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64136238C>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.286C>A	10.37:g.64136238C>A	ENSP00000378674:p.Pro96Thr					ZNF365_uc001jly.3_Missense_Mutation_p.P111T|ZNF365_uc001jmb.3_Missense_Mutation_p.P96T|ZNF365_uc001jlz.3_Missense_Mutation_p.P96T|ZNF365_uc001jma.3_Intron	p.P96T	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN			2	601	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		55						Missense_Mutation	SNP	ENST00000395254.3	37	c.286C>A	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675089	0.29783	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35605	1.3;1.3;1.3	5.61	2.55	0.30701	.	0.554792	0.17585	N	0.168983	T	0.25269	0.0614	L	0.54323	1.7	0.09310	N	0.999999	B;B;B;B	0.29988	0.264;0.023;0.013;0.023	B;B;B;B	0.21151	0.033;0.007;0.007;0.007	T	0.14309	-1.0477	10	0.39692	T	0.17	-8.347	2.5454	0.04736	0.2045:0.4579:0.1894:0.1482	.	96;96;96;111	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	T	96	ENSP00000378674:P96T;ENSP00000378675:P96T;ENSP00000387091:P96T	ENSP00000378674:P96T	P	+	1	0	ZNF365	63806244	0.018000	0.18449	0.873000	0.34254	0.992000	0.81027	0.137000	0.15995	1.343000	0.45638	0.555000	0.69702	CCG		0.483	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		15	62	1	0	2.31682e-05	0.003163	2.70133e-05	15	62				
CTNNA3	29119	broad.mit.edu	37	10	69407230	69407230	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:69407230C>A	ENST00000433211.2	-	2	216	c.42G>T	c.(40-42)caG>caT	p.Q14H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q14H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q14H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTGCAGATCCTGAGGATCGA	0.388																																							uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(40-42)CAG>CAT		catenin, alpha 3							155.0	148.0	150.0					10																	69407230		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69407230C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.42G>T	10.37:g.69407230C>A	ENSP00000389714:p.Gln14His					CTNNA3_uc001jmw.2_Missense_Mutation_p.Q14H|CTNNA3_uc001jmx.3_Missense_Mutation_p.Q14H|CTNNA3_uc009xpo.1_Translation_Start_Site|CTNNA3_uc001jna.2_Missense_Mutation_p.Q26H	p.Q14H	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			2	165	-			14						Missense_Mutation	SNP	ENST00000433211.2	37	c.42G>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827736	0.71143	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.58506	1.51;1.51;0.65;0.33	5.71	3.83	0.44106	.	0.304918	0.26163	N	0.025970	T	0.58395	0.2119	L	0.38531	1.155	0.32119	N	0.588285	B;D;B	0.60575	0.001;0.988;0.0	B;P;B	0.56343	0.002;0.796;0.0	T	0.66360	-0.5943	10	0.87932	D	0	-1.6308	8.9714	0.35908	0.0:0.7718:0.1485:0.0797	.	14;14;14	F2Z2R0;Q9UI47-2;Q9UI47	.;.;CTNA3_HUMAN	H	14	ENSP00000389714:Q14H;ENSP00000362849:Q14H;ENSP00000441444:Q14H;ENSP00000330570:Q14H	ENSP00000330570:Q14H	Q	-	3	2	CTNNA3	69077236	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	0.942000	0.29017	0.738000	0.32606	0.655000	0.94253	CAG		0.388	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		25	81	1	0	2.81731e-10	0.010818	3.95187e-10	25	81				
DLG5	9231	broad.mit.edu	37	10	79616594	79616594	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:79616594C>T	ENST00000372391.2	-	3	435	c.430G>A	c.(430-432)Gag>Aag	p.E144K	DLG5_ENST00000372388.2_Missense_Mutation_p.E144K	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	144					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCACCTTCTCATTCACTTGC	0.572																																							uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(430-432)GAG>AAG		discs large homolog 5							48.0	49.0	48.0					10																	79616594		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79616594C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.430G>A	10.37:g.79616594C>T	ENSP00000361467:p.Glu144Lys					DLG5_uc009xru.1_RNA	p.E144K	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		3	500	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		144					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.430G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974280	0.74246	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.35421	1.31;1.31	5.36	5.36	0.76844	.	0.194775	0.25453	N	0.030572	T	0.32102	0.0818	L	0.27053	0.805	0.42372	D	0.992452	P	0.41131	0.739	B	0.40659	0.336	T	0.06250	-1.0837	10	0.36615	T	0.2	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	144	Q8TDM6	DLG5_HUMAN	K	144	ENSP00000361467:E144K;ENSP00000361464:E144K	ENSP00000361464:E144K	E	-	1	0	DLG5	79286600	1.000000	0.71417	0.953000	0.39169	0.067000	0.16453	5.396000	0.66297	2.509000	0.84616	0.561000	0.74099	GAG		0.572	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			11	13	0	0	0	0.013537	0	11	13				
NRG3	10718	broad.mit.edu	37	10	83635516	83635516	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:83635516C>A	ENST00000404547.1	+	1	420	c.420C>A	c.(418-420)ccC>ccA	p.P140P	NRG3_ENST00000372141.2_Silent_p.P140P|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	140	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ccgccaccccctccgccGGGG	0.697																																							uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(418-420)CCC>CCA		neuregulin 3 isoform 1							29.0	40.0	36.0					10																	83635516		2200	4298	6498	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635516C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.420C>A	10.37:g.83635516C>A						NRG3_uc010qlz.1_Silent_p.P140P|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	p.P140P	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	447	+			140			Ser/Thr-rich.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.420C>A	CCDS31233.1																																																																																				0.697	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		11	13	1	0	6.40141e-05	0.010729	7.33993e-05	11	13				
BTAF1	9044	broad.mit.edu	37	10	93723909	93723909	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:93723909A>G	ENST00000265990.6	+	13	1788	c.1480A>G	c.(1480-1482)Atg>Gtg	p.M494V	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	494					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAATAGTATTATGACTCTCCT	0.333																																							uc001khr.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1480-1482)ATG>GTG		BTAF1 RNA polymerase II, B-TFIID transcription							156.0	153.0	154.0					10																	93723909		2202	4298	6500	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93723909A>G	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1480A>G	10.37:g.93723909A>G	ENSP00000265990:p.Met494Val					BTAF1_uc001khs.1_Missense_Mutation_p.M164V|BTAF1_uc001kht.1_5'Flank	p.M494V	NM_003972	NP_003963	O14981	BTAF1_HUMAN			13	1578	+		Colorectal(252;0.0846)	494					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.1480A>G	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631212	0.87660	.	.	ENSG00000095564	ENST00000265990	T	0.63744	-0.06	5.85	5.85	0.93711	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.88241	2.94	0.80722	D	1	D	0.55172	0.97	P	0.53102	0.718	T	0.80125	-0.1513	10	0.42905	T	0.14	-15.9622	15.2191	0.73296	1.0:0.0:0.0:0.0	.	494	O14981	BTAF1_HUMAN	V	494	ENSP00000265990:M494V	ENSP00000265990:M494V	M	+	1	0	BTAF1	93713889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.947000	0.93000	2.238000	0.73509	0.477000	0.44152	ATG		0.333	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		19	66	0	0	0	0.012319	0	19	66				
PLCE1	51196	broad.mit.edu	37	10	96006295	96006295	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:96006295C>G	ENST00000371380.3	+	7	3248	c.3013C>G	c.(3013-3015)Ctc>Gtc	p.L1005V	PLCE1_ENST00000260766.3_Missense_Mutation_p.L1005V|PLCE1_ENST00000371385.3_Missense_Mutation_p.L697V|PLCE1_ENST00000371375.1_Missense_Mutation_p.L697V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1005					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATTATTGGAACTCACTAGAGC	0.478																																							uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(3013-3015)CTC>GTC		phospholipase C, epsilon 1 isoform 1							88.0	85.0	86.0					10																	96006295		1949	4162	6111	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96006295C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3013C>G	10.37:g.96006295C>G	ENSP00000360431:p.Leu1005Val					PLCE1_uc010qnx.1_Missense_Mutation_p.L1005V|PLCE1_uc001kjm.2_Missense_Mutation_p.L697V	p.L1005V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			8	3647	+		Colorectal(252;0.0458)	1005					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3013C>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715547	0.30413	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.89	4.81	0.61882	.	0.077150	0.49916	N	0.000126	T	0.30727	0.0774	L	0.29908	0.895	0.28488	N	0.914596	B;B;B	0.26318	0.073;0.016;0.146	B;B;B	0.22880	0.042;0.04;0.036	T	0.08186	-1.0734	10	0.27785	T	0.31	.	6.8711	0.24121	0.0:0.7607:0.0:0.2393	.	1005;697;1005	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	1005;1005;697;697	ENSP00000260766:L1005V;ENSP00000360431:L1005V;ENSP00000360438:L697V;ENSP00000360426:L697V	ENSP00000260766:L1005V	L	+	1	0	PLCE1	95996285	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.303000	0.33470	2.814000	0.96858	0.585000	0.79938	CTC		0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		13	79	0	0	0	0.00245	0	13	79				
ACSM6	142827	broad.mit.edu	37	10	96967138	96967138	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:96967138T>A	ENST00000394005.3	+	3	586	c.577T>A	c.(577-579)Tat>Aat	p.Y193N	C10orf129_ENST00000430183.1_Missense_Mutation_p.Y38N|C10orf129_ENST00000341686.3_Missense_Mutation_p.Y193N			Q6P461	ACSM6_HUMAN		193					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		AGATAAGAGCTATGATGGGTG	0.433																																							uc001kke.2		NA																	0					0						c.(577-579)TAT>AAT		acyl-coenzyme A synthetase ACSM6, mitochondrial							88.0	79.0	82.0					10																	96967138		2203	4300	6503	SO:0001583	missense	142827				fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr10:96967138T>A																												ENST00000394005.3:c.577T>A	10.37:g.96967138T>A	ENSP00000377573:p.Tyr193Asn					C10orf129_uc009xuu.1_Missense_Mutation_p.Y103N	p.Y193N	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	4	702	+		Colorectal(252;0.083)	193					A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	c.577T>A	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695427	0.30052	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000430183;ENST00000394005	T;T;T	0.39787	2.87;1.06;2.87	1.2	0.0248	0.14143	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.20455	0.0492	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18053	-1.0349	9	0.44086	T	0.13	.	1.4847	0.02444	0.3126:0.2179:0.0:0.4695	.	193	Q6P461	ACSM6_HUMAN	N	219;193;38;193	ENSP00000340296:Y193N;ENSP00000400368:Y38N;ENSP00000377573:Y193N	ENSP00000340296:Y193N	Y	+	1	0	C10orf129	96957128	0.000000	0.05858	0.014000	0.15608	0.788000	0.44548	-0.579000	0.05834	0.032000	0.15435	0.472000	0.43445	TAT		0.433	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2			17	64	0	0	0	0.008871	0	17	64				
CPN1	1369	broad.mit.edu	37	10	101841176	101841176	+	Silent	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:101841176A>G	ENST00000370418.3	-	1	458	c.207T>C	c.(205-207)ccT>ccC	p.P69P		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	69	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CGTGGATTCCAGGGTGGTCGC	0.577																																							uc001kql.2		NA																	0				central_nervous_system(3)|pancreas(1)	4						c.(205-207)CCT>CCC		carboxypeptidase N, polypeptide 1 precursor							50.0	46.0	48.0					10																	101841176		2203	4300	6503	SO:0001819	synonymous_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101841176A>G	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.207T>C	10.37:g.101841176A>G							p.P69P	NM_001308	NP_001299	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	1	467	-		Colorectal(252;0.234)	69			Catalytic.		B1AP59	Silent	SNP	ENST00000370418.3	37	c.207T>C	CCDS7486.1																																																																																				0.577	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		10	19	0	0	0	0.013537	0	10	19				
WBP1L	54838	broad.mit.edu	37	10	104572912	104572912	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:104572912G>T	ENST00000369889.4	+	4	995	c.853G>T	c.(853-855)Gac>Tac	p.D285Y	WBP1L_ENST00000448841.1_Missense_Mutation_p.D306Y	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	285						integral component of membrane (GO:0016021)											GGACTTCTGCGACAGCTGCCA	0.612																																							uc001kwe.3		NA																	0				central_nervous_system(1)	1						c.(853-855)GAC>TAC		hypothetical protein LOC54838 isoform 2							61.0	67.0	65.0					10																	104572912		2203	4300	6503	SO:0001583	missense	54838					integral to membrane		g.chr10:104572912G>T	AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"""outcome predictor in acute leukemia 1"""	611129	"""chromosome 10 open reading frame 26"""	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.853G>T	10.37:g.104572912G>T	ENSP00000358905:p.Asp285Tyr					C10orf26_uc001kwf.3_Missense_Mutation_p.D306Y|C10orf26_uc009xxg.1_Intron	p.D285Y	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)	4	1113	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	285					B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Missense_Mutation	SNP	ENST00000369889.4	37	c.853G>T	CCDS7540.1	.	.	.	.	.	.	.	.	.	.	g	25.5	4.640216	0.87859	.	.	ENSG00000166272	ENST00000448841;ENST00000369889	T;T	0.43688	0.94;1.0	5.93	5.93	0.95920	.	0.188909	0.56097	D	0.000026	T	0.62478	0.2431	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.69142	0.962;0.917	T	0.61840	-0.6980	10	0.87932	D	0	-31.0225	20.3483	0.98803	0.0:0.0:1.0:0.0	.	306;285	Q9NX94-2;Q9NX94	.;OPA1L_HUMAN	Y	306;285	ENSP00000414721:D306Y;ENSP00000358905:D285Y	ENSP00000358905:D285Y	D	+	1	0	C10orf26	104562902	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.069000	0.93967	2.822000	0.97130	0.556000	0.70494	GAC		0.612	WBP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050100.1	NM_017787		14	65	1	0	1.52009e-12	0.003163	2.28289e-12	14	65				
ATRNL1	26033	broad.mit.edu	37	10	117093890	117093890	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:117093890G>A	ENST00000355044.3	+	19	3262	c.3136G>A	c.(3136-3138)Ggt>Agt	p.G1046S	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1046	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTATGCCAGGTTATTATGG	0.373																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3136-3138)GGT>AGT		attractin-like 1 precursor							146.0	128.0	134.0					10																	117093890		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117093890G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3136G>A	10.37:g.117093890G>A	ENSP00000347152:p.Gly1046Ser					ATRNL1_uc010qsm.1_Intron|ATRNL1_uc010qsn.1_Intron	p.G1046S	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	19	3522	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1046			Laminin EGF-like 1.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3136G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389568	0.95988	.	.	ENSG00000107518	ENST00000355044	T	0.66995	-0.24	5.34	5.34	0.76211	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89909	0.4050	10	0.56958	D	0.05	-20.8463	19.4025	0.94635	0.0:0.0:1.0:0.0	.	1046	Q5VV63	ATRN1_HUMAN	S	1046	ENSP00000347152:G1046S	ENSP00000347152:G1046S	G	+	1	0	ATRNL1	117083880	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.809000	0.99208	2.655000	0.90218	0.585000	0.79938	GGT		0.373	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		10	60	0	0	0	0.013537	0	10	60				
INPP5F	22876	broad.mit.edu	37	10	121563689	121563689	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:121563689T>C	ENST00000361976.2	+	10	1287	c.1121T>C	c.(1120-1122)aTt>aCt	p.I374T		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	417	5-phosphatase.		S -> F (in OCRL; dbSNP:rs137853836). {ECO:0000269|PubMed:21031565}.		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTATAGGTTATTATTAACTTG	0.338																																							uc001leo.2		NA																	0				ovary(2)	2						c.(1120-1122)ATT>ACT		inositol polyphosphate-5-phosphatase F							110.0	105.0	107.0					10																	121563689		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121563689T>C	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1121T>C	10.37:g.121563689T>C	ENSP00000354519:p.Ile374Thr						p.I374T	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	10	1287	+		Lung NSC(174;0.109)|all_lung(145;0.142)	374			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.1121T>C	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.107069	0.77096	.	.	ENSG00000198825	ENST00000361976	T	0.59906	0.23	5.73	5.73	0.89815	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.88775	2.98	0.80722	D	1	D	0.61697	0.99	P	0.62491	0.903	T	0.82725	-0.0315	10	0.66056	D	0.02	-23.7596	16.3143	0.82909	0.0:0.0:0.0:1.0	.	374	Q9Y2H2	SAC2_HUMAN	T	374	ENSP00000354519:I374T	ENSP00000354519:I374T	I	+	2	0	INPP5F	121553679	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.560000	0.82277	2.313000	0.78055	0.454000	0.30748	ATT		0.338	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		3	60	0	0	0	0.004672	0	3	60				
DHX32	55760	broad.mit.edu	37	10	127569112	127569112	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:127569112C>A	ENST00000284690.3	-	1	772	c.282G>T	c.(280-282)caG>caT	p.Q94H	DHX32_ENST00000284688.6_Splice_Site_p.Q94H	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	94	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTTACTCACCTGAGCGCTCT	0.328																																							uc001ljf.1		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(280-282)CAG>CAT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32							63.0	60.0	61.0					10																	127569112		2203	4300	6503	SO:0001630	splice_region_variant	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127569112C>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.282+1G>T	10.37:g.127569112C>A						DHX32_uc001ljg.1_Missense_Mutation_p.Q94H	p.Q94H	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN			1	773	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	94			Helicase ATP-binding.		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.282G>T	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552734	0.65425	.	.	ENSG00000089876	ENST00000284690;ENST00000284688;ENST00000415732	T;T;T	0.15603	2.41;2.41;2.41	4.88	4.88	0.63580	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	H	0.99249	4.485	0.34717	D	0.728343	D	0.89917	1.0	D	0.85130	0.997	T	0.80432	-0.1385	9	.	.	.	-26.4538	11.672	0.51408	0.0:0.9194:0.0:0.0806	.	94	Q7L7V1	DHX32_HUMAN	H	94	ENSP00000284690:Q94H;ENSP00000284688:Q94H;ENSP00000406781:Q94H	.	Q	-	3	2	DHX32	127559102	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.073000	0.50057	2.537000	0.85549	0.555000	0.69702	CAG		0.328	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	Missense_Mutation	10	35	1	0	1.08611e-07	0.010729	1.38734e-07	10	35				
ADAM8	101	broad.mit.edu	37	10	135086508	135086508	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:135086508G>C	ENST00000445355.3	-	7	639	c.589C>G	c.(589-591)Cga>Gga	p.R197G	ADAM8_ENST00000485491.2_Missense_Mutation_p.R158G|ADAM8_ENST00000415217.3_Missense_Mutation_p.R197G|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	197					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CGGGTCTCTCGGGATGGCAGA	0.682																																							uc010qva.1		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(472-474)CGA>GGA		SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);							68.0	67.0	67.0					10																	135086508		2200	4300	6500	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135086508G>C	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.589C>G	10.37:g.135086508G>C	ENSP00000453302:p.Arg197Gly					ADAM8_uc010quz.1_Missense_Mutation_p.R197G|ADAM8_uc009ybi.2_Missense_Mutation_p.R197G|ADAM8_uc010qvb.1_Missense_Mutation_p.R172G|ADAM8_uc009ybj.1_RNA	p.R158G			P78325	ADAM8_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	6	523	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	158					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.472C>G	CCDS31319.2																																																																																				0.682	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		19	102	0	0	0	0.012319	0	19	102				
PDDC1	347862	broad.mit.edu	37	11	773602	773602	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:773602G>C	ENST00000319863.8	-	4	296	c.275C>G	c.(274-276)cCc>cGc	p.P92R	PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Missense_Mutation_p.P42R|PDDC1_ENST00000397472.2_Missense_Mutation_p.P92R|PDDC1_ENST00000526325.1_Missense_Mutation_p.P92R|PDDC1_ENST00000524550.1_Intron	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	92						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		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;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGACAGCTGGGGATCAGGAG	0.647																																							uc001lrc.2		NA																	0					0						c.(274-276)CCC>CGC		Parkinson disease 7 domain containing 1							30.0	28.0	29.0					11																	773602		2201	4298	6499	SO:0001583	missense	347862					extracellular region		g.chr11:773602G>C	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.275C>G	11.37:g.773602G>C	ENSP00000321691:p.Pro92Arg					PDDC1_uc010qwm.1_Missense_Mutation_p.P42R|PDDC1_uc001lrd.2_Missense_Mutation_p.P92R|PDDC1_uc001lrf.1_Intron|PDDC1_uc001lrg.1_Intron|PDDC1_uc009ycg.2_Missense_Mutation_p.P42R|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Intron|PDDC1_uc010qwq.1_Intron|PDDC1_uc010qwr.1_Missense_Mutation_p.P92R|PDDC1_uc010qws.1_Missense_Mutation_p.P42R	p.P92R	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	300	-		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)	92					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Missense_Mutation	SNP	ENST00000319863.8	37	c.275C>G	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325250	0.81580	.	.	ENSG00000177225	ENST00000528309;ENST00000397472;ENST00000319863;ENST00000526650;ENST00000526325;ENST00000442059	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	4.57	4.57	0.56435	ThiJ/PfpI (1);	0.063559	0.64402	D	0.000004	D	0.95271	0.8466	M	0.89601	3.045	0.47949	D	0.99955	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.982;0.984;0.982	D	0.96319	0.9235	10	0.87932	D	0	-43.0256	16.5856	0.84727	0.0:0.0:1.0:0.0	.	42;92;92	B7Z1J9;Q8NB37-2;Q8NB37	.;.;PDDC1_HUMAN	R	30;92;92;16;92;42	ENSP00000437068:P30R;ENSP00000380612:P92R;ENSP00000321691:P92R;ENSP00000434839:P16R;ENSP00000433322:P92R;ENSP00000397890:P42R	ENSP00000321691:P92R	P	-	2	0	PDDC1	763602	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.839000	0.86812	2.284000	0.76573	0.650000	0.86243	CCC		0.647	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		7	21	0	0	0	0.006214	0	7	21				
MUC5B	727897	broad.mit.edu	37	11	1266056	1266056	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:1266056C>A	ENST00000529681.1	+	31	8004	c.7946C>A	c.(7945-7947)cCc>cAc	p.P2649H	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2652H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2649	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGTGACCCCCTCCTCCATC	0.632																																							uc009ycr.1		NA																	0					0						c.(9859-9861)CCC>CAC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							137.0	172.0	160.0					11																	1266056		2103	4204	6307	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266056C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7946C>A	11.37:g.1266056C>A	ENSP00000436812:p.Pro2649His					MUC5B_uc001ltb.2_Missense_Mutation_p.P2652H	p.P3287H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	9986	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2649	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.9860C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	4.136	0.023532	0.08006	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.23147	1.92;2.11	2.43	-0.13	0.13498	.	.	.	.	.	T	0.23094	0.0558	M	0.63843	1.955	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.003;0.005	T	0.33137	-0.9880	9	0.87932	D	0	.	4.1035	0.10025	0.3618:0.4228:0.2154:0.0	.	3287;2652	A7Y9J9;E9PBJ0	.;.	H	2649;2652;2621;2664	ENSP00000436812:P2649H;ENSP00000415793:P2652H	ENSP00000343037:P2621H	P	+	2	0	MUC5B	1222632	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-0.669000	0.05262	-0.203000	0.10251	0.205000	0.17691	CCC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		29	55	1	0	3.67414e-24	0.012213	6.43946e-24	29	55				
KRTAP5-1	387264	broad.mit.edu	37	11	1606012	1606012	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:1606012G>A	ENST00000382171.2	-	1	501	c.468C>T	c.(466-468)ggC>ggT	p.G156G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	156	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGCCACAGCCCCCTTTGC	0.652																																							uc001ltu.1		NA																	0					0						c.(466-468)GGC>GGT		keratin associated protein 5-1							84.0	100.0	94.0					11																	1606012		2202	4299	6501	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606012G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.468C>T	11.37:g.1606012G>A						LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	p.G156G	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	502	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	156			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.468C>T	CCDS31330.1																																																																																				0.652	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		32	232	0	0	0	0.004289	0	32	232				
OR52K1	390036	broad.mit.edu	37	11	4510775	4510775	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:4510775T>G	ENST00000307632.3	+	1	667	c.645T>G	c.(643-645)ttT>ttG	p.F215L		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACCTGCTCTTTGTTATCCTGT	0.498																																							uc001lza.1		NA																	0					0						c.(643-645)TTT>TTG		olfactory receptor, family 52, subfamily K,							533.0	416.0	456.0					11																	4510775		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510775T>G	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.645T>G	11.37:g.4510775T>G	ENSP00000302422:p.Phe215Leu						p.F215L	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	645	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	215			Helical; Name=5; (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.645T>G	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	T	2.087	-0.409215	0.04799	.	.	ENSG00000196778	ENST00000307632	T	0.31769	1.48	4.5	0.832	0.18867	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000185	T	0.11922	0.0290	N	0.12920	0.275	0.26559	N	0.973776	B	0.14012	0.009	B	0.21708	0.036	T	0.33085	-0.9882	10	0.02654	T	1	.	4.6041	0.12368	0.0:0.363:0.1735:0.4635	.	215	Q8NGK4	O52K1_HUMAN	L	215	ENSP00000302422:F215L	ENSP00000302422:F215L	F	+	3	2	OR52K1	4467351	0.033000	0.19621	0.912000	0.35992	0.874000	0.50279	-0.134000	0.10436	0.303000	0.22785	0.338000	0.21704	TTT		0.498	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		28	203	0	0	0	0.008361	0	28	203				
OR51L1	119682	broad.mit.edu	37	11	5020422	5020422	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:5020422G>T	ENST00000321543.1	+	1	210	c.210G>T	c.(208-210)gtG>gtT	p.V70V		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	70						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)		TCTTAGCAGTGAATGACCTGG	0.453																																							uc010qyu.1		NA																	0				skin(1)	1						c.(208-210)GTG>GTT		olfactory receptor, family 51, subfamily L,							201.0	172.0	182.0					11																	5020422		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020422G>T	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.210G>T	11.37:g.5020422G>T							p.V70V	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	210	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	70			Helical; Name=2; (Potential).		Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.210G>T	CCDS31369.1																																																																																				0.453	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		26	72	1	0	3.99451e-17	0.009535	6.57033e-17	26	72				
HBE1	3046	broad.mit.edu	37	11	5291054	5291054	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:5291054C>T	ENST00000380237.1	-	3	411	c.67G>A	c.(67-69)Gag>Aag	p.E23K	HBE1_ENST00000292896.2_Missense_Mutation_p.E23K|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	23					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCCAGCCTCTTCCACATTC	0.502																																							uc001mal.1		NA																	0					0						c.(67-69)GAG>AAG		epsilon globin							116.0	104.0	108.0					11																	5291054		2201	4297	6498	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5291054C>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.67G>A	11.37:g.5291054C>T	ENSP00000369586:p.Glu23Lys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.E23K	p.E23K	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	320	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	23					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.67G>A	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887022	0.52014	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.89552	-2.53;-2.53;-2.53	5.81	5.81	0.92471	Globin-like (1);Globin, structural domain (1);	0.520005	0.17497	U	0.172122	D	0.86556	0.5961	L	0.52126	1.63	0.43091	D	0.994763	B	0.09022	0.002	B	0.10450	0.005	T	0.81972	-0.0688	10	0.52906	T	0.07	-22.0653	14.2776	0.66191	0.0:0.8512:0.1488:0.0	.	23	P02100	HBE_HUMAN	K	23	ENSP00000369586:E23K;ENSP00000292896:E23K;ENSP00000380104:E23K	ENSP00000292896:E23K	E	-	1	0	HBE1	5247630	0.993000	0.37304	0.993000	0.49108	0.354000	0.29330	4.086000	0.57664	2.756000	0.94617	0.585000	0.79938	GAG		0.502	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		4	60	0	0	0	0.001168	0	4	60				
UBQLN3	50613	broad.mit.edu	37	11	5528910	5528911	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:5528910_5528911CC>GA	ENST00000311659.4	-	2	2025_2026	c.1878_1879GG>TC	c.(1876-1881)atGGgc>atTCgc	p.626_627MG>IR	HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	626	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGAAAGCCCATGGACCGCA	0.54																																					Ovarian(72;684 1260 12332 41642 52180)	Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	0				ovary(3)	3						c.(1876-1881)ATGGGC>ATTCGC		ubiquilin 3																																				SO:0001583	missense	50613							g.chr11:5528910_5528911CC>GA	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1878_1879delinsGA	11.37:g.5528910_5528911delinsGA	ENSP00000347997:p.M626_G627delinsIR					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	p.626_627MG>IR	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1964_1965	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	626_627			UBA.		Q9NRE0	Missense_Mutation	DNP	ENST00000311659.4	37	c.1878_1879GG>TC	CCDS7758.1																																																																																				0.540	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		28	73	0	0	0	0.004672	0	28	73				
OR52N2	390077	broad.mit.edu	37	11	5841574	5841574	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:5841574G>T	ENST00000317037.2	+	1	31	c.9G>T	c.(7-9)ggG>ggT	p.G3G	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGTCTGGGGACAACAGCT	0.502																																							uc010qzp.1		NA																	0		p.G3E(1)		ovary(1)|skin(1)	2						c.(7-9)GGG>GGT		olfactory receptor, family 52, subfamily N,							78.0	76.0	76.0					11																	5841574		2201	4296	6497	SO:0001819	synonymous_variant	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841574G>T	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.9G>T	11.37:g.5841574G>T						TRIM5_uc001mbq.1_Intron	p.G3G	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	9	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	3			Extracellular (Potential).		Q6IFF9	Silent	SNP	ENST00000317037.2	37	c.9G>T	CCDS31399.1																																																																																				0.502	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		6	90	1	0	0.00198382	0.001984	0.00215825	6	90				
CCKBR	887	broad.mit.edu	37	11	6291332	6291332	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:6291332G>T	ENST00000334619.2	+	3	611	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	CCKBR_ENST00000525462.1_Missense_Mutation_p.V140L|CCKBR_ENST00000532715.1_Missense_Mutation_p.V56L|CCKBR_ENST00000525014.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	140					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTCTGTGAGTGTGTCCACGCT	0.602																																							uc001mcp.2		NA																	0				lung(5)|ovary(2)|breast(1)	8						c.(418-420)GTG>TTG		cholecystokinin B receptor	Pentagastrin(DB00183)						55.0	53.0	54.0					11																	6291332		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291332G>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.418G>T	11.37:g.6291332G>T	ENSP00000335544:p.Val140Leu					CCKBR_uc001mcq.2_Missense_Mutation_p.V68L|CCKBR_uc001mcr.2_Missense_Mutation_p.V140L|CCKBR_uc001mcs.2_Missense_Mutation_p.V140L	p.V140L	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	611	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	140			Helical; Name=3; (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.418G>T	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216266	0.58452	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.72282	2.28;-0.64;2.28	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.071449	0.56097	D	0.000022	D	0.85388	0.5685	M	0.87682	2.9	0.49687	D	0.999812	D;D;D	0.64830	0.967;0.994;0.989	P;P;D	0.68039	0.725;0.88;0.955	D	0.88082	0.2807	10	0.72032	D	0.01	.	16.6181	0.84922	0.0:0.0:1.0:0.0	.	140;74;140	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	L	140;56;140	ENSP00000335544:V140L;ENSP00000432079:V56L;ENSP00000435534:V140L	ENSP00000335544:V140L	V	+	1	0	CCKBR	6247908	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	7.002000	0.76304	2.494000	0.84150	0.655000	0.94253	GTG		0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		10	42	1	0	1.08611e-07	0.010729	1.38734e-07	10	42				
TUB	7275	broad.mit.edu	37	11	8060537	8060537	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:8060537G>T	ENST00000305253.4	+	1	358	c.117G>T	c.(115-117)agG>agT	p.R39S	RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCAGCACAGGAAACCTGGGC	0.557																																							uc001mfy.2		NA																	0				ovary(1)	1						c.(115-117)AGG>AGT		tubby isoform a							82.0	78.0	79.0					11																	8060537		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8060537G>T	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000305253.4:c.117G>T	11.37:g.8060537G>T	ENSP00000305426:p.Arg39Ser					TUB_uc010rbk.1_Intron	p.R39S	NM_003320	NP_003311	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	1	358	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	Error:Variant_position_missing_in_P50607_after_alignment					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000305253.4	37	c.117G>T	CCDS7786.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632793	0.47049	.	.	ENSG00000166402	ENST00000305253	D	0.87491	-2.26	4.79	2.68	0.31781	.	0.304858	0.25607	N	0.029511	D	0.91185	0.7223	.	.	.	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	D	0.89727	0.3923	9	0.87932	D	0	-11.0473	7.4866	0.27437	0.2183:0.0:0.7817:0.0	.	39	P50607-2	.	S	39	ENSP00000305426:R39S	ENSP00000305426:R39S	R	+	3	2	TUB	8017113	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.276000	0.33156	0.602000	0.29896	0.563000	0.77884	AGG		0.557	TUB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385822.1	NM_003320		5	57	1	0	2.0095e-06	0.001984	2.44981e-06	5	57				
GALNT18	374378	broad.mit.edu	37	11	11362386	11362386	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:11362386C>A	ENST00000227756.4	-	7	1669	c.1258G>T	c.(1258-1260)Gca>Tca	p.A420S		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	420					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ATGTTCCATGCCATGTAGACG	0.522																																							uc001mjo.2		NA																	0					0						c.(1258-1260)GCA>TCA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							236.0	239.0	238.0					11																	11362386		2201	4294	6495	SO:0001583	missense	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11362386C>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1258G>T	11.37:g.11362386C>A	ENSP00000227756:p.Ala420Ser						p.A420S	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	7	1679	-			420			Lumenal (Potential).		O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.1258G>T	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184498	0.94885	.	.	ENSG00000110328	ENST00000227756	T	0.68331	-0.32	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.78916	2.43	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.78221	-0.2288	10	0.27082	T	0.32	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	420	Q6P9A2	GLTL4_HUMAN	S	420	ENSP00000227756:A420S	ENSP00000227756:A420S	A	-	1	0	GALNTL4	11318962	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.716000	0.92895	0.561000	0.74099	GCA		0.522	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		23	247	1	0	4.26978e-12	0.00333	6.30953e-12	23	247				
PDE3B	5140	broad.mit.edu	37	11	14882866	14882866	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:14882866T>A	ENST00000282096.4	+	14	3193	c.2840T>A	c.(2839-2841)tTg>tAg	p.L947*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.L896*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	947	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GTTCGAGACTTGCATTTGAAA	0.413																																							uc001mln.2		NA																	0					0						c.(2839-2841)TTG>TAG		phosphodiesterase 3B							130.0	126.0	127.0					11																	14882866		2200	4294	6494	SO:0001587	stop_gained	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14882866T>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2840T>A	11.37:g.14882866T>A	ENSP00000282096:p.Leu947*					PDE3B_uc010rcr.1_Nonsense_Mutation_p.L896*	p.L947*	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			14	3193	+			947			Catalytic (By similarity).		B7ZM37|O00639|Q14408|Q6SEI4	Nonsense_Mutation	SNP	ENST00000282096.4	37	c.2840T>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	T	41	9.121142	0.99073	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2939	0.73888	0.0:0.0:0.0:1.0	.	.	.	.	X	947;896	.	ENSP00000282096:L947X	L	+	2	0	PDE3B	14839442	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.698000	0.84413	2.005000	0.58758	0.482000	0.46254	TTG		0.413	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		14	125	0	0	0	0.003163	0	14	125				
PDE3B	5140	broad.mit.edu	37	11	14882896	14882896	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:14882896A>T	ENST00000282096.4	+	14	3223	c.2870A>T	c.(2869-2871)aAt>aTt	p.N957I	PDE3B_ENST00000455098.2_Missense_Mutation_p.N906I	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	957	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GGCATTGTCAATGAATTTTAT	0.413																																							uc001mln.2		NA																	0					0						c.(2869-2871)AAT>ATT		phosphodiesterase 3B							117.0	114.0	115.0					11																	14882896		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14882896A>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2870A>T	11.37:g.14882896A>T	ENSP00000282096:p.Asn957Ile					PDE3B_uc010rcr.1_Missense_Mutation_p.N906I	p.N957I	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			14	3223	+			957			Catalytic (By similarity).		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.2870A>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823591	0.71143	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.77358	-1.09;-1.09	5.32	3.98	0.46160	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.051761	0.85682	D	0.000000	T	0.80221	0.4583	L	0.29908	0.895	0.51233	D	0.999916	D;D	0.89917	0.999;1.0	D;D	0.77004	0.981;0.989	T	0.81980	-0.0684	10	0.72032	D	0.01	.	11.6802	0.51453	0.9188:0.0:0.0812:0.0	.	906;957	B7ZM37;Q13370	.;PDE3B_HUMAN	I	957;906	ENSP00000282096:N957I;ENSP00000388644:N906I	ENSP00000282096:N957I	N	+	2	0	PDE3B	14839472	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.144000	0.77357	2.005000	0.58758	0.482000	0.46254	AAT		0.413	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		13	120	0	0	0	0.001855	0	13	120				
SAAL1	113174	broad.mit.edu	37	11	18103035	18103035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:18103035C>A	ENST00000524803.1	-	11	1304	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*	SAAL1_ENST00000300013.4_Nonsense_Mutation_p.G418*|SAAL1_ENST00000529318.1_Nonsense_Mutation_p.G421*			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	419										breast(2)|large_intestine(5)|lung(8)	15						TCCTTTACTCCCTGAGCCACC	0.358																																							uc001mnq.2		NA																	0					0						c.(1255-1257)GGA>TGA		serum amyloid A-like 1							115.0	108.0	111.0					11																	18103035		2200	4293	6493	SO:0001587	stop_gained	113174				acute-phase response	extracellular region	binding	g.chr11:18103035C>A	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1255G>T	11.37:g.18103035C>A	ENSP00000432487:p.Gly419*					SAAL1_uc001mnr.2_Nonsense_Mutation_p.G418*|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Nonsense_Mutation_p.G421*	p.G419*	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN			11	1305	-			419					A6NH05	Nonsense_Mutation	SNP	ENST00000524803.1	37	c.1255G>T	CCDS31439.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	38|38|38	6.921004|6.921004|6.921004	0.97936|0.97936|0.97936	.|.|.	.|.|.	ENSG00000166788|ENSG00000166788|ENSG00000166788	ENST00000530436;ENST00000531751|ENST00000524803;ENST00000300013;ENST00000529318|ENST00000532452	T|.|.	0.30981|.|.	1.51|.|.	6.03|6.03|6.03	6.03|6.03|6.03	0.97812|0.97812|0.97812	.|.|.	0.336851|0.336851|.	0.33753|0.33753|.	N|N|.	0.004587|0.004587|.	T|.|T	0.81123|.|0.81123	0.4757|.|0.4757	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.78526|.|0.78526	-0.2170|.|-0.2170	5|.|3	.|.|.	.|.|.	.|.|.	-17.0768|-17.0768|-17.0768	20.5541|20.5541|20.5541	0.99286|0.99286|0.99286	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	V|X|S	127;242|419;418;421|77	ENSP00000436031:G242V|.|.	.|.|.	G|G|R	-|-|-	2|1|3	0|0|2	SAAL1|SAAL1|SAAL1	18059611|18059611|18059611	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.799000|0.799000|0.799000	0.45148|0.45148|0.45148	4.115000|4.115000|4.115000	0.57865|0.57865|0.57865	2.864000|2.864000|2.864000	0.98301|0.98301|0.98301	0.551000|0.551000|0.551000	0.68910|0.68910|0.68910	GGG|GGA|AGG		0.358	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		8	69	1	0	7.48243e-07	0.006214	9.27195e-07	8	69				
TMEM86A	144110	broad.mit.edu	37	11	18722737	18722737	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:18722737C>T	ENST00000280734.2	+	2	375	c.279C>T	c.(277-279)ttC>ttT	p.F93F	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	93						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						AAGGATACTTCGTGCATGGTC	0.587																																							uc001moz.1		NA																	0				ovary(1)	1						c.(277-279)TTC>TTT		transmembrane protein 86A							63.0	63.0	63.0					11																	18722737		2199	4293	6492	SO:0001819	synonymous_variant	144110					integral to membrane		g.chr11:18722737C>T	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.279C>T	11.37:g.18722737C>T							p.F93F	NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN			2	362	+			93			Helical; (Potential).		Q96AJ0	Silent	SNP	ENST00000280734.2	37	c.279C>T	CCDS7844.1																																																																																				0.587	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		8	97	0	0	0	0.004482	0	8	97				
KCNA4	3739	broad.mit.edu	37	11	30033634	30033634	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:30033634G>A	ENST00000328224.6	-	2	1825	c.592C>T	c.(592-594)Cca>Tca	p.P198S	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	198					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	AAAGTCTCTGGAAACTGGGCC	0.483																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(592-594)CCA>TCA		potassium voltage-gated channel, shaker-related							61.0	59.0	60.0					11																	30033634		1911	4130	6041	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033634G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.592C>T	11.37:g.30033634G>A	ENSP00000328511:p.Pro198Ser						p.P198S	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1744	-			198						Missense_Mutation	SNP	ENST00000328224.6	37	c.592C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198011	0.79015	.	.	ENSG00000182255	ENST00000328224	T	0.79940	-1.32	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97758	1.0219	10	0.87932	D	0	.	17.8942	0.88881	0.0:0.0:1.0:0.0	.	198	P22459	KCNA4_HUMAN	S	198	ENSP00000328511:P198S	ENSP00000328511:P198S	P	-	1	0	KCNA4	29990210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.828000	0.99408	2.227000	0.72691	0.561000	0.74099	CCA		0.483	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		3	34	0	0	0	0.004672	0	3	34				
KCNA4	3739	broad.mit.edu	37	11	30033738	30033738	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:30033738C>A	ENST00000328224.6	-	2	1721	c.488G>T	c.(487-489)gGt>gTt	p.G163V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	163	Poly-Gly.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTAGCCGCCACCGCCCTCATC	0.517																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(487-489)GGT>GTT		potassium voltage-gated channel, shaker-related							60.0	60.0	60.0					11																	30033738		2172	4269	6441	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033738C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.488G>T	11.37:g.30033738C>A	ENSP00000328511:p.Gly163Val						p.G163V	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1640	-			163			Poly-Gly.			Missense_Mutation	SNP	ENST00000328224.6	37	c.488G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	5.122	0.208113	0.09704	.	.	ENSG00000182255	ENST00000328224	D	0.96716	-4.1	4.66	3.75	0.43078	.	0.285434	0.28371	U	0.015599	D	0.87545	0.6204	N	0.08118	0	0.21147	N	0.99977	B	0.26445	0.149	B	0.24394	0.053	T	0.76721	-0.2855	10	0.14252	T	0.57	.	5.8576	0.18728	0.0:0.6032:0.214:0.1828	.	163	P22459	KCNA4_HUMAN	V	163	ENSP00000328511:G163V	ENSP00000328511:G163V	G	-	2	0	KCNA4	29990314	0.753000	0.28349	0.671000	0.29857	0.371000	0.29859	1.813000	0.38962	0.958000	0.37956	0.561000	0.74099	GGT		0.517	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	77	1	0	0.000978159	0.010729	0.00107832	8	77				
KCNA4	3739	broad.mit.edu	37	11	30033974	30033974	+	Silent	SNP	C	C	T	rs561842368		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:30033974C>T	ENST00000328224.6	-	2	1485	c.252G>A	c.(250-252)agG>agA	p.R84R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	84				RRRRQ -> EEEAT (in Ref. 1; AAA60034). {ECO:0000305}.	potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTCGCCTCCTCCTCCGACTAC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16847	0.0		0.0	False		,,,				2504	0.0						uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(250-252)AGG>AGA		potassium voltage-gated channel, shaker-related							44.0	46.0	45.0					11																	30033974		2049	4198	6247	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033974C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.252G>A	11.37:g.30033974C>T							p.R84R	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1404	-			84	RRRRQ -> EEEAT (in Ref. 1; AAA60034).					Silent	SNP	ENST00000328224.6	37	c.252G>A	CCDS41629.1																																																																																				0.632	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		24	41	0	0	0	0.005443	0	24	41				
ALKBH3	221120	broad.mit.edu	37	11	43940636	43940636	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:43940636G>T	ENST00000302708.4	+	9	1129	c.718G>T	c.(718-720)Gat>Tat	p.D240Y	ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3-AS1_ENST00000528285.1_RNA|RP11-613D13.4_ENST00000526408.1_RNA|ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	240	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GATACCCTTGGATCATGGGAC	0.423								Direct reversal of damage																															uc001mxs.2		NA																	0					0						c.(718-720)GAT>TAT	Direct_reversal_of_damage	AlkB homolog 3	Vitamin C(DB00126)						207.0	171.0	183.0					11																	43940636		2203	4300	6503	SO:0001583	missense	221120				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:43940636G>T	AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.718G>T	11.37:g.43940636G>T	ENSP00000302232:p.Asp240Tyr					ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.D93Y|uc001mxu.1_Intron	p.D240Y	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN			9	1161	+			240			Fe2OG dioxygenase.		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	ENST00000302708.4	37	c.718G>T	CCDS7906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.33|19.33	3.806600|3.806600	0.70682|0.70682	.|.	.|.	ENSG00000166199|ENSG00000166199	ENST00000302708|ENST00000532129	T|.	0.11930|.	2.73|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Oxoglutarate/iron-dependent oxygenase (2);|.	0.268908|.	0.42682|.	D|.	0.000678|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.59767|.	0.986|.	P|.	0.58210|.	0.835|.	T|T	0.67872|0.67872	-0.5558|-0.5558	10|5	0.66056|.	D|.	0.02|.	-11.2744|-11.2744	15.7986|15.7986	0.78433|0.78433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	240|.	Q96Q83|.	ALKB3_HUMAN|.	Y|V	240|109	ENSP00000302232:D240Y|.	ENSP00000302232:D240Y|.	D|G	+|+	1|2	0|0	ALKBH3|ALKBH3	43897212|43897212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.676000|3.676000	0.54612|0.54612	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.423	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1	NM_139178		35	108	1	0	5.20837e-25	0.00874	9.20626e-25	35	108				
ACCS	84680	broad.mit.edu	37	11	44105101	44105101	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:44105101C>G	ENST00000263776.8	+	14	1816	c.1382C>G	c.(1381-1383)tCa>tGa	p.S461*		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	461					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTTGTCTTCTCAGACCAGGTC	0.572																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(1381-1383)TCA>TGA		1-aminocyclopropane-1-carboxylate synthase							97.0	85.0	89.0					11																	44105101		2203	4300	6503	SO:0001587	stop_gained	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44105101C>G	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1382C>G	11.37:g.44105101C>G	ENSP00000263776:p.Ser461*					EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Nonsense_Mutation_p.S461*	p.S461*	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			14	1526	+			461					B4E219|Q8WUL4|Q96LX5	Nonsense_Mutation	SNP	ENST00000263776.8	37	c.1382C>G	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	C	41	8.549902	0.98859	.	.	ENSG00000110455	ENST00000263776	.	.	.	5.91	4.99	0.66335	.	0.515212	0.20899	N	0.083674	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.2375	14.1663	0.65477	0.0:0.9282:0.0:0.0718	.	.	.	.	X	461	.	ENSP00000263776:S461X	S	+	2	0	ACCS	44061677	0.730000	0.28100	0.840000	0.33206	0.705000	0.40729	4.352000	0.59404	2.793000	0.96121	0.655000	0.94253	TCA		0.572	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		4	80	0	0	0	0.000602	0	4	80				
LRP4	4038	broad.mit.edu	37	11	46916274	46916274	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:46916274T>C	ENST00000378623.1	-	12	1648	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	469					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGCAATGGCATTCTCCAGGTT	0.597																																							uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1405-1407)AAT>AGT		low density lipoprotein receptor-related protein							130.0	123.0	125.0					11																	46916274		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46916274T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1406A>G	11.37:g.46916274T>C	ENSP00000367888:p.Asn469Ser						p.N469S	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	12	1552	-			469			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1406A>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603703	0.87157	.	.	ENSG00000134569	ENST00000378623	D	0.86230	-2.09	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	N	0.25992	0.78	0.80722	D	1	P	0.37525	0.598	P	0.46629	0.522	D	0.85073	0.0941	10	0.41790	T	0.15	.	15.773	0.78187	0.0:0.0:0.0:1.0	.	469	O75096	LRP4_HUMAN	S	469	ENSP00000367888:N469S	ENSP00000367888:N469S	N	-	2	0	LRP4	46872850	1.000000	0.71417	0.923000	0.36655	0.982000	0.71751	7.698000	0.84413	2.124000	0.65301	0.523000	0.50628	AAT		0.597	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		33	69	0	0	0	0.004289	0	33	69				
OR4C13	283092	broad.mit.edu	37	11	49974514	49974514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:49974514C>A	ENST00000555099.1	+	1	572	c.540C>A	c.(538-540)taC>taA	p.Y180*		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GTGATCTCTACACTTTGATCA	0.438																																							uc010rhz.1		NA																	0				skin(3)|ovary(1)	4						c.(538-540)TAC>TAA		olfactory receptor, family 4, subfamily C,							234.0	206.0	215.0					11																	49974514		2201	4296	6497	SO:0001587	stop_gained	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974514C>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.540C>A	11.37:g.49974514C>A	ENSP00000452277:p.Tyr180*						p.Y180*	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	540	+			180			Extracellular (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Nonsense_Mutation	SNP	ENST00000555099.1	37	c.540C>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	1.616	-0.522700	0.04141	.	.	ENSG00000258817	ENST00000555099	.	.	.	2.7	-0.475	0.12104	.	0.127661	0.35096	N	0.003448	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8526	0.24022	0.0:0.6532:0.0:0.3468	.	.	.	.	X	180	.	.	Y	+	3	2	OR4C13	49931090	0.000000	0.05858	0.260000	0.24451	0.003000	0.03518	-2.873000	0.00719	-0.236000	0.09753	0.186000	0.17326	TAC		0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		14	122	1	0	1.33834e-09	0.007413	1.82181e-09	14	122				
TRIM48	79097	broad.mit.edu	37	11	55032584	55032584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55032584C>T	ENST00000417545.2	+	2	339	c.253C>T	c.(253-255)Cga>Tga	p.R85*		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	69						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACTAACATTCGATTGAAGAA	0.448																																							uc010rid.1		NA																	0					0						c.(253-255)CGA>TGA		tripartite motif-containing 48							173.0	160.0	165.0					11																	55032584		2188	4257	6445	SO:0001587	stop_gained	79097					intracellular	zinc ion binding	g.chr11:55032584C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.253C>T	11.37:g.55032584C>T	ENSP00000402414:p.Arg85*						p.R85*	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	339	+			69					Q9BUW4	Nonsense_Mutation	SNP	ENST00000417545.2	37	c.253C>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	c	6.984	0.551632	0.13374	.	.	ENSG00000150244	ENST00000417545	.	.	.	0.596	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	3.3631	0.07194	0.0:0.4913:0.2668:0.2418	.	.	.	.	X	85	.	ENSP00000402414:R85X	R	+	1	2	TRIM48	54789160	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.231000	0.17872	-1.193000	0.02688	-0.506000	0.04501	CGA		0.448	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			4	59	0	0	0	0.000602	0	4	59				
OR5D13	390142	broad.mit.edu	37	11	55541053	55541053	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55541053T>G	ENST00000361760.1	+	1	140	c.140T>G	c.(139-141)aTg>aGg	p.M47R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AACTTGGGCATGATAATAATC	0.388																																							uc010ril.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(139-141)ATG>AGG		olfactory receptor, family 5, subfamily D,							168.0	156.0	160.0					11																	55541053		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541053T>G	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.140T>G	11.37:g.55541053T>G	ENSP00000354800:p.Met47Arg						p.M47R	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	140	+		all_epithelial(135;0.196)	47			Helical; Name=1; (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.140T>G	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.277187	0.40294	.	.	ENSG00000198877	ENST00000361760	T	0.00446	7.39	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	U	0.000955	T	0.00666	0.0022	M	0.91561	3.22	0.27602	N	0.948933	B	0.24043	0.096	B	0.25614	0.062	T	0.10314	-1.0635	10	0.87932	D	0	-15.9197	11.3563	0.49617	0.0:0.0:0.0:1.0	.	47	Q8NGL4	OR5DD_HUMAN	R	47	ENSP00000354800:M47R	ENSP00000354800:M47R	M	+	2	0	OR5D13	55297629	0.998000	0.40836	0.402000	0.26371	0.016000	0.09150	6.859000	0.75467	1.626000	0.50381	0.398000	0.26397	ATG		0.388	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		25	84	0	0	0	0.005443	0	25	84				
OR5D18	219438	broad.mit.edu	37	11	55587535	55587535	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55587535C>T	ENST00000333976.4	+	1	450	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTCTGCGTGCTGCTGGTTGT	0.463																																							uc010rin.1		NA																	0				skin(2)|ovary(1)	3						c.(430-432)CTG>TTG		olfactory receptor, family 5, subfamily D,							184.0	174.0	177.0					11																	55587535		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587535C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.430C>T	11.37:g.55587535C>T							p.L144L	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	430	+		all_epithelial(135;0.208)	144			Helical; Name=4; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.430C>T	CCDS31510.1																																																																																				0.463	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		11	121	0	0	0	0.00245	0	11	121				
OR5D18	219438	broad.mit.edu	37	11	55587957	55587957	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55587957C>T	ENST00000333976.4	+	1	872	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGGTGATCCCCATGTTGAATC	0.468																																							uc010rin.1		NA																	0				skin(2)|ovary(1)	3						c.(850-852)CCC>CCT		olfactory receptor, family 5, subfamily D,							83.0	83.0	83.0					11																	55587957		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587957C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.852C>T	11.37:g.55587957C>T							p.P284P	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	852	+		all_epithelial(135;0.208)	284			Helical; Name=7; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.852C>T	CCDS31510.1																																																																																				0.468	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		8	46	0	0	0	0.004482	0	8	46				
OR10AG1	282770	broad.mit.edu	37	11	55735790	55735790	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55735790C>A	ENST00000312345.2	-	1	200	c.150G>T	c.(148-150)atG>atT	p.M50I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAAAAAATACATGGGAGTCT	0.323																																							uc010rit.1		NA																	0				skin(2)	2						c.(148-150)ATG>ATT		olfactory receptor, family 10, subfamily AG,							52.0	60.0	58.0					11																	55735790		2200	4295	6495	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735790C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.150G>T	11.37:g.55735790C>A	ENSP00000311477:p.Met50Ile						p.M50I	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	150	-	Esophageal squamous(21;0.0137)		50			Helical; Name=2; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.150G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017674	0.54576	.	.	ENSG00000174970	ENST00000312345	T	0.09350	2.99	5.36	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.30885	0.0779	H	0.95950	3.745	0.37369	D	0.911556	P	0.45594	0.862	P	0.44447	0.45	T	0.58685	-0.7593	10	0.72032	D	0.01	.	14.0281	0.64597	0.0:0.8474:0.1526:0.0	.	50	Q8NH19	O10AG_HUMAN	I	50	ENSP00000311477:M50I	ENSP00000311477:M50I	M	-	3	0	OR10AG1	55492366	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	6.940000	0.75917	1.280000	0.44463	0.477000	0.44152	ATG		0.323	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		15	62	1	0	9.16793e-09	0.00499	1.22387e-08	15	62				
OR10AG1	282770	broad.mit.edu	37	11	55735793	55735793	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:55735793G>C	ENST00000312345.2	-	1	197	c.147C>G	c.(145-147)ccC>ccG	p.P49P		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAAAATACATGGGAGTCTGGA	0.333																																							uc010rit.1		NA																	0				skin(2)	2						c.(145-147)CCC>CCG		olfactory receptor, family 10, subfamily AG,							52.0	60.0	57.0					11																	55735793		2201	4294	6495	SO:0001819	synonymous_variant	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735793G>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.147C>G	11.37:g.55735793G>C							p.P49P	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	147	-	Esophageal squamous(21;0.0137)		49			Helical; Name=2; (Potential).		B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	c.147C>G	CCDS31514.1																																																																																				0.333	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		15	67	0	0	0	0.00499	0	15	67				
OR5T2	219464	broad.mit.edu	37	11	56000021	56000021	+	Missense_Mutation	SNP	C	C	A	rs371955672		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:56000021C>A	ENST00000313264.4	-	1	716	c.641G>T	c.(640-642)aGg>aTg	p.R214M		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AAAGACACGCCTAATTTCATT	0.428																																							uc010rjc.1		NA																	0				ovary(2)	2						c.(640-642)AGG>ATG		olfactory receptor, family 5, subfamily T,							172.0	154.0	160.0					11																	56000021		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000021C>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.641G>T	11.37:g.56000021C>A	ENSP00000323688:p.Arg214Met						p.R214M	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	641	-	Esophageal squamous(21;0.00448)		214			Extracellular (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.641G>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361222	0.24684	.	.	ENSG00000181718	ENST00000313264	T	0.00123	8.7	5.07	-2.84	0.05751	GPCR, rhodopsin-like superfamily (1);	0.144788	0.31427	U	0.007678	T	0.00300	0.0009	L	0.55213	1.73	0.09310	N	1	D	0.67145	0.996	D	0.67231	0.95	T	0.36456	-0.9747	10	0.87932	D	0	.	12.2235	0.54447	0.0:0.2888:0.0:0.7112	.	214	Q8NGG2	OR5T2_HUMAN	M	214	ENSP00000323688:R214M	ENSP00000323688:R214M	R	-	2	0	OR5T2	55756597	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.037000	0.13840	-0.510000	0.06523	0.478000	0.44815	AGG		0.428	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		17	129	1	0	1.45105e-14	0.006122	2.26539e-14	17	129				
OR5M9	390162	broad.mit.edu	37	11	56230691	56230691	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:56230691G>T	ENST00000279791.1	-	1	186	c.187C>A	c.(187-189)Cat>Aat	p.H63N		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AAAGACAGATGACTCAGGAAA	0.423																																							uc010rjj.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(187-189)CAT>AAT		olfactory receptor, family 5, subfamily M,							82.0	83.0	82.0					11																	56230691		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230691G>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.187C>A	11.37:g.56230691G>T	ENSP00000279791:p.His63Asn						p.H63N	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	187	-	Esophageal squamous(21;0.00448)		63			Helical; Name=2; (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.187C>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	9.276	1.047024	0.19827	.	.	ENSG00000150269	ENST00000279791	T	0.00892	5.57	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000266	T	0.00754	0.0025	N	0.12502	0.225	0.27028	N	0.9643	B	0.17852	0.024	B	0.19946	0.027	T	0.47824	-0.9087	10	0.05959	T	0.93	-7.7953	15.8179	0.78618	0.0:0.0:1.0:0.0	.	63	Q8NGP3	OR5M9_HUMAN	N	63	ENSP00000279791:H63N	ENSP00000279791:H63N	H	-	1	0	OR5M9	55987267	0.008000	0.16893	0.214000	0.23707	0.884000	0.51177	1.184000	0.32053	2.394000	0.81467	0.549000	0.68633	CAT		0.423	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		7	28	1	0	5.18039e-06	0.00308	6.22398e-06	7	28				
OR5M3	219482	broad.mit.edu	37	11	56237247	56237247	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:56237247G>A	ENST00000312240.2	-	1	767	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ACAGCTGTCAGATGGGACCCA	0.468																																							uc010rjk.1		NA																	0				ovary(2)	2						c.(727-729)CTG>TTG		olfactory receptor, family 5, subfamily M,							59.0	57.0	58.0					11																	56237247		2201	4295	6496	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237247G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.727C>T	11.37:g.56237247G>A							p.L243L	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	727	-	Esophageal squamous(21;0.00448)		243			Helical; Name=6; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.727C>T	CCDS31532.1																																																																																				0.468	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		7	31	0	0	0	0.001984	0	7	31				
OR5M10	390167	broad.mit.edu	37	11	56345137	56345137	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:56345137G>A	ENST00000526812.2	-	1	126	c.61C>T	c.(61-63)Cca>Tca	p.P21S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCTAGCACTGGGTCGTCTGTC	0.458																																							uc001niz.1		NA																	0					0						c.(61-63)CCA>TCA		olfactory receptor, family 5, subfamily M,							166.0	155.0	159.0					11																	56345137		1916	4138	6054	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345137G>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.61C>T	11.37:g.56345137G>A	ENSP00000436004:p.Pro21Ser						p.P21S	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	61	-			21			Extracellular (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.61C>T	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395894	0.42512	.	.	ENSG00000254834	ENST00000526812	T	0.00428	7.44	4.04	-0.382	0.12481	.	.	.	.	.	T	0.00356	0.0011	L	0.45470	1.425	0.09310	N	1	B	0.23442	0.085	B	0.25291	0.059	T	0.32025	-0.9922	9	0.49607	T	0.09	.	9.2657	0.37639	0.0823:0.3928:0.5249:0.0	.	21	Q6IEU7	OR5MA_HUMAN	S	21	ENSP00000436004:P21S	ENSP00000436004:P21S	P	-	1	0	OR5M10	56101713	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.995000	0.29706	-0.157000	0.11059	0.632000	0.83419	CCA		0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		25	69	0	0	0	0.010818	0	25	69				
OR1S2	219958	broad.mit.edu	37	11	57970762	57970762	+	Missense_Mutation	SNP	T	T	A	rs139372504		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:57970762T>A	ENST00000302592.6	-	1	891	c.892A>T	c.(892-894)Atg>Ttg	p.M298L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAGGGGTTCATCATGGGTGTC	0.468																																							uc010rkb.1		NA																	0				ovary(1)	1						c.(892-894)ATG>TTG		olfactory receptor, family 1, subfamily S,		T	LEU/MET	1,4401	2.1+/-5.4	0,1,2200	159.0	151.0	154.0		892	-7.6	0.9	11	dbSNP_134	154	0,8592		0,0,4296	no	missense	OR1S2	NM_001004459.1	15	0,1,6496	AA,AT,TT		0.0,0.0227,0.0077	benign	298/326	57970762	1,12993	2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970762T>A	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.892A>T	11.37:g.57970762T>A	ENSP00000305469:p.Met298Leu						p.M298L	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	892	-		Breast(21;0.0589)	298			Helical; Name=7; (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.892A>T	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	T	0.628	-0.818306	0.02776	2.27E-4	0.0	ENSG00000197887	ENST00000302592	T	0.27256	1.68	4.75	-7.63	0.01290	GPCR, rhodopsin-like superfamily (1);	1.116300	0.06795	N	0.787733	T	0.03178	0.0093	N	0.00159	-1.955	0.19300	N	0.999973	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	10	0.02654	T	1	.	3.1999	0.06646	0.423:0.3457:0.0939:0.1374	.	298	Q8NGQ3	OR1S2_HUMAN	L	298	ENSP00000305469:M298L	ENSP00000305469:M298L	M	-	1	0	OR1S2	57727338	0.000000	0.05858	0.885000	0.34714	0.987000	0.75469	-3.707000	0.00387	-1.409000	0.02038	-0.263000	0.10527	ATG		0.468	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		9	116	0	0	0	0.004482	0	9	116				
OR5B2	390190	broad.mit.edu	37	11	58190619	58190619	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:58190619C>A	ENST00000302581.2	-	1	167	c.116G>T	c.(115-117)gGg>gTg	p.G39V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCCCAGGTTCCCACACAGAGT	0.478																																							uc010rkg.1		NA																	0				ovary(3)	3						c.(115-117)GGG>GTG		olfactory receptor, family 5, subfamily B,							104.0	98.0	100.0					11																	58190619		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190619C>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.116G>T	11.37:g.58190619C>A	ENSP00000303076:p.Gly39Val						p.G39V	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	116	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	39			Helical; Name=1; (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.116G>T	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415761	0.42817	.	.	ENSG00000172365	ENST00000302581	T	0.04406	3.63	3.8	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.26011	0.0634	H	0.95950	3.745	0.20764	N	0.999855	P	0.52842	0.956	P	0.56474	0.799	T	0.17561	-1.0365	9	0.87932	D	0	-5.1571	11.6513	0.51290	0.1792:0.8208:0.0:0.0	.	39	Q96R09	OR5B2_HUMAN	V	39	ENSP00000303076:G39V	ENSP00000303076:G39V	G	-	2	0	OR5B2	57947195	0.000000	0.05858	0.042000	0.18584	0.013000	0.08279	0.479000	0.22228	0.926000	0.37118	0.645000	0.84053	GGG		0.478	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		34	78	1	0	4.62619e-21	0.004289	7.95666e-21	34	78				
CD6	923	broad.mit.edu	37	11	60785403	60785403	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:60785403C>A	ENST00000313421.7	+	11	1941	c.1755C>A	c.(1753-1755)ccC>ccA	p.P585P	CD6_ENST00000452451.2_Silent_p.P544P|CD6_ENST00000346437.4_Silent_p.P512P|CD6_ENST00000344028.5_Silent_p.P553P|CD6_ENST00000352009.5_Silent_p.P553P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	585					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CATGGAACCCCCAGGTGTTTT	0.582																																					Pancreas(169;904 2017 4767 38890 42505)	Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2		NA																	0				pancreas(1)	1						c.(1753-1755)CCC>CCA		CD6 molecule precursor							65.0	69.0	67.0					11																	60785403		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785403C>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1755C>A	11.37:g.60785403C>A						CD6_uc001nqp.2_Silent_p.P585P|CD6_uc001nqr.2_Silent_p.P553P|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.P544P	p.P585P	NM_006725	NP_006716	P30203	CD6_HUMAN			11	1978	+			585			Cytoplasmic (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1755C>A	CCDS7999.1																																																																																				0.582	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		11	97	1	0	4.36969e-10	0.001855	6.07798e-10	11	97				
TMEM223	79064	broad.mit.edu	37	11	62558318	62558318	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:62558318C>A	ENST00000307366.7	-	2	412	c.386G>T	c.(385-387)gGa>gTa	p.G129V	TMEM223_ENST00000525631.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000527073.1_Intron	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	129						integral component of membrane (GO:0016021)											CTGCTGCCCTCCAGCTCGAAG	0.612																																							uc001nve.2		NA																	0					0						c.(385-387)GGA>GTA		transmembrane protein 223							23.0	26.0	25.0					11																	62558318		2079	4210	6289	SO:0001583	missense	79064					integral to membrane		g.chr11:62558318C>A		CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.386G>T	11.37:g.62558318C>A	ENSP00000303987:p.Gly129Val						p.G129V	NM_001080501	NP_001073970	A0PJW6	TM223_HUMAN			2	406	-			129					Q504S0|Q86YD4|Q8WUC5|Q96HG0	Missense_Mutation	SNP	ENST00000307366.7	37	c.386G>T	CCDS44628.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695679	0.88830	.	.	ENSG00000168569	ENST00000307366	T	0.77620	-1.11	4.93	4.93	0.64822	.	0.155763	0.41001	D	0.000969	D	0.87079	0.6088	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88664	0.3191	10	0.87932	D	0	-5.2544	15.6371	0.76963	0.0:1.0:0.0:0.0	.	129	A0PJW6	TM223_HUMAN	V	129	ENSP00000303987:G129V	ENSP00000303987:G129V	G	-	2	0	TMEM223	62314894	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	6.463000	0.73530	2.286000	0.76751	0.455000	0.32223	GGA		0.612	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395674.1			6	10	1	0	0.00116845	0.001168	0.00128127	6	10				
MRPL49	740	broad.mit.edu	37	11	64888175	64888175	+	5'Flank	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:64888175T>A	ENST00000279242.2	+	0	0				FAU_ENST00000279259.3_3'UTR|FAU_ENST00000525297.1_Missense_Mutation_p.K92M|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000531743.1_Missense_Mutation_p.K127M|MRPL49_ENST00000526171.1_5'Flank|MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_Missense_Mutation_p.K127M|FAU_ENST00000529639.1_Missense_Mutation_p.K127M	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						ATTGGGGCCCTTCTTCTTGCC	0.463																																							uc001ocx.2		NA																	0					0						c.(379-381)AAG>ATG		ubiquitin-like protein fubi and ribosomal							66.0	73.0	71.0					11																	64888175		2201	4297	6498	SO:0001631	upstream_gene_variant	2197							g.chr11:64888175T>A		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64888175T>A	Exception_encountered					FAU_uc001ocy.1_3'UTR|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	p.K127M	NM_001997	NP_001988	P35544	UBIM_HUMAN			5	487	-			Error:Variant_position_missing_in_P35544_after_alignment					B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	c.380A>T	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769561	0.90020	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.46	5.46	0.80206	.	0.135310	0.64402	D	0.000003	T	0.58177	0.2104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62623	-0.6815	7	0.87932	D	0	.	13.4889	0.61382	0.0:0.0:0.0:1.0	.	.	.	.	M	127;127;92;127	ENSP00000435370:K127M;ENSP00000431822:K127M;ENSP00000436110:K92M;ENSP00000434440:K127M	ENSP00000436110:K92M	K	-	2	0	FAU	64644751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.107000	0.71517	2.090000	0.63153	0.533000	0.62120	AAG		0.463	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		24	36	0	0	0	0.005443	0	24	36				
TENM4	26011	broad.mit.edu	37	11	78412943	78412943	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:78412943G>T	ENST00000278550.7	-	28	5177	c.4715C>A	c.(4714-4716)aCc>aAc	p.T1572N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1572					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CATGTTCTGGGTGTTGAGGAA	0.527																																							uc001ozl.3		NA																	0				ovary(2)|pancreas(2)	4						c.(4714-4716)ACC>AAC		odz, odd Oz/ten-m homolog 4							115.0	120.0	118.0					11																	78412943		2068	4202	6270	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78412943G>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4715C>A	11.37:g.78412943G>T	ENSP00000278550:p.Thr1572Asn					ODZ4_uc009yvb.1_Missense_Mutation_p.T156N	p.T1572N	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			28	5178	-			1572			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.4715C>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149910	0.21371	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89746	-2.56;0.93	5.25	3.39	0.38822	Six-bladed beta-propeller, TolB-like (1);	0.232522	0.44097	D	0.000488	T	0.78953	0.4365	N	0.19112	0.55	0.30558	N	0.764764	B	0.17268	0.021	B	0.14578	0.011	T	0.68899	-0.5287	9	.	.	.	.	11.0212	0.47720	0.0:0.2634:0.5998:0.1367	.	1572	Q6N022	TEN4_HUMAN	N	1572;36	ENSP00000278550:T1572N;ENSP00000431711:T36N	.	T	-	2	0	ODZ4	78090591	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.545000	0.60698	0.783000	0.33636	-0.133000	0.14855	ACC		0.527	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			25	70	1	0	1.39806e-14	0.008361	2.2034e-14	25	70				
EED	8726	broad.mit.edu	37	11	85989472	85989472	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:85989472G>C	ENST00000263360.6	+	12	1917	c.1231G>C	c.(1231-1233)Gct>Cct	p.A411P	EED_ENST00000527888.1_Missense_Mutation_p.A76P|EED_ENST00000351625.6_Missense_Mutation_p.A436P|EED_ENST00000327320.4_3'UTR|EED_ENST00000528180.1_Missense_Mutation_p.A331P	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	411	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TAAATGTGGTGCTGCTATTCG	0.418																																							uc001pbp.2		NA																	0				skin(1)|pancreas(1)	2						c.(1231-1233)GCT>CCT		embryonic ectoderm development isoform a							164.0	137.0	146.0					11																	85989472		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85989472G>C	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1231G>C	11.37:g.85989472G>C	ENSP00000263360:p.Ala411Pro					EED_uc001pbq.2_3'UTR|EED_uc001pbr.2_Missense_Mutation_p.A436P|EED_uc001pbs.2_Missense_Mutation_p.A331P	p.A411P	NM_003797	NP_003788	O75530	EED_HUMAN			12	1688	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	411			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 7.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.1231G>C	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776839	0.49786	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000534564;ENST00000524673;ENST00000527888	T;T;T;T	0.80393	-0.9;-1.37;-0.83;-0.25	5.49	3.57	0.40892	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.171890	0.51477	D	0.000081	T	0.76983	0.4064	L	0.52011	1.625	0.42564	D	0.993159	B;P;B	0.45283	0.026;0.855;0.14	B;P;B	0.46629	0.057;0.522;0.178	T	0.73183	-0.4063	9	.	.	.	-3.1383	8.3917	0.32533	0.0704:0.0:0.654:0.2755	.	331;436;411	E9PJK2;O75530-2;O75530	.;.;EED_HUMAN	P	411;331;436;160;76;76	ENSP00000263360:A411P;ENSP00000431778:A331P;ENSP00000338186:A436P;ENSP00000437318:A76P	.	A	+	1	0	EED	85667120	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	2.440000	0.44855	0.753000	0.32945	0.655000	0.94253	GCT		0.418	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		22	76	0	0	0	0.005443	0	22	76				
CNTN5	53942	broad.mit.edu	37	11	99941257	99941257	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:99941257C>A	ENST00000524871.1	+	11	1554	c.1264C>A	c.(1264-1266)Cgt>Agt	p.R422S	CNTN5_ENST00000527185.1_Missense_Mutation_p.R422S|CNTN5_ENST00000279463.3_Missense_Mutation_p.R422S|CNTN5_ENST00000418526.2_Missense_Mutation_p.R348S|CNTN5_ENST00000528682.1_Missense_Mutation_p.R422S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	422	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				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)		ACCCACGTATCGTTGGCTGAA	0.468																																							uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1264-1266)CGT>AGT		contactin 5 isoform long							97.0	96.0	96.0					11																	99941257		1907	4109	6016	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99941257C>A	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.1264C>A	11.37:g.99941257C>A	ENSP00000435637:p.Arg422Ser					CNTN5_uc009ywv.1_Missense_Mutation_p.R422S|CNTN5_uc001pfz.2_Missense_Mutation_p.R422S|CNTN5_uc001pgb.2_Missense_Mutation_p.R348S	p.R422S	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)	11	1603	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	422			Ig-like C2-type 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1264C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833905	0.50951	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.045967	0.85682	D	0.000000	T	0.59636	0.2208	N	0.17345	0.48	0.80722	D	1	D;D;D	0.58268	0.982;0.978;0.982	P;P;P	0.51170	0.595;0.531;0.661	T	0.61197	-0.7111	10	0.48119	T	0.1	.	19.632	0.95713	0.0:1.0:0.0:0.0	.	422;348;422	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	S	422;422;422;348;422	ENSP00000433575:R422S;ENSP00000436185:R422S;ENSP00000435637:R422S;ENSP00000393229:R348S;ENSP00000279463:R422S	ENSP00000279463:R422S	R	+	1	0	CNTN5	99446467	1.000000	0.71417	0.754000	0.31244	0.032000	0.12392	3.809000	0.55606	2.890000	0.99128	0.650000	0.86243	CGT		0.468	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		10	20	1	0	1.05317e-09	0.00245	1.44549e-09	10	20				
ATM	472	broad.mit.edu	37	11	108183144	108183144	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:108183144T>A	ENST00000452508.2	+	41	6114	c.5925T>A	c.(5923-5925)ctT>ctA	p.L1975L	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.L1975L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1975	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACAGAAGTCTTGCATTTGAAG	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(5923-5925)CTT>CTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							95.0	106.0	103.0					11																	108183144		2201	4297	6498	SO:0001819	synonymous_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108183144T>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5925T>A	11.37:g.108183144T>A		TSP Lung(14;0.12)				ATM_uc009yxr.1_Silent_p.L1975L|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Silent_p.L627L|ATM_uc001pkg.1_Silent_p.L332L|ATM_uc009yxt.1_Silent_p.L89L	p.L1975L	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	40	6310	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1975			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.5925T>A	CCDS31669.1																																																																																				0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		9	76	0	0	0	0.006214	0	9	76				
DDX10	1662	broad.mit.edu	37	11	108594087	108594087	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:108594087A>T	ENST00000322536.3	+	13	1992	c.1863A>T	c.(1861-1863)acA>acT	p.T621T	DDX10_ENST00000526794.1_Silent_p.T621T	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	621					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGTTCCTACACAGTTCTTGG	0.428			T	NUP98	AML*																																		uc001pkm.2		NA		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(1861-1863)ACA>ACT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							93.0	90.0	91.0					11																	108594087		2201	4298	6499	SO:0001819	synonymous_variant	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108594087A>T	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1863A>T	11.37:g.108594087A>T						DDX10_uc001pkl.1_Silent_p.T621T	p.T621T	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	13	1928	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	621					B2RCQ3|Q5BJD8	Silent	SNP	ENST00000322536.3	37	c.1863A>T	CCDS8342.1																																																																																				0.428	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		14	30	0	0	0	0.00499	0	14	30				
NCAM1	4684	broad.mit.edu	37	11	113102941	113102941	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:113102941C>A	ENST00000533760.1	+	10	1505	c.906C>A	c.(904-906)aaC>aaA	p.N302K	NCAM1_ENST00000401611.2_Missense_Mutation_p.N429K|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.N420K	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	430					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGGAGGGGAACCAGGTGAACA	0.512																																							uc009yyq.1		NA																	0				ovary(1)	1						c.(1012-1014)AAC>AAA		neural cell adhesion molecule 1 isoform 3							58.0	59.0	59.0					11																	113102941		1960	4161	6121	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102941C>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.906C>A	11.37:g.113102941C>A	ENSP00000473281:p.Asn302Lys						p.N338K	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	12	1708	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	430			Ig-like C2-type 5.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1014C>A		.	.	.	.	.	.	.	.	.	.	C	18.57	3.652483	0.67472	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.71934	-0.61;-0.61	5.51	4.6	0.57074	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.81384	0.4811	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.80937	-0.1159	9	0.42905	T	0.14	-46.1652	9.9046	0.41368	0.0:0.7859:0.0:0.2141	.	430;420;430;420	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	K	302;429;420	ENSP00000384055:N429K;ENSP00000318472:N420K	ENSP00000318472:N420K	N	+	3	2	NCAM1	112608151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.574000	0.36482	1.469000	0.48083	0.460000	0.39030	AAC		0.512	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		6	23	1	0	3.59834e-05	0.001168	4.18376e-05	6	23				
VPS11	55823	broad.mit.edu	37	11	118944508	118944508	+	Splice_Site	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:118944508A>T	ENST00000527798.1	+	7	1303		c.e7-1		VPS11_ENST00000300793.6_Splice_Site			Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTTCCCTTCTAGATGCTGTTT	0.448																																							uc010ryx.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.e8-2		vacuolar protein sorting 11							88.0	79.0	82.0					11																	118944508		1872	4108	5980	SO:0001630	splice_region_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118944508A>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000527798.1:c.1304-1A>T	11.37:g.118944508A>T						VPS11_uc010ryy.1_Splice_Site_p.M209_splice	p.M363_splice	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	8	1129	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)						Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Splice_Site	SNP	ENST00000527798.1	37	c.1087_splice																																																																																					0.448	VPS11-002	KNOWN	alternative_5_UTR|basic	processed_transcript	protein_coding	OTTHUMT00000389380.1	NM_021729	Intron	3	20	0	0	0	0.009096	0	3	20				
ARHGEF12	23365	broad.mit.edu	37	11	120348935	120348935	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:120348935G>A	ENST00000397843.2	+	37	3769	c.3603G>A	c.(3601-3603)ggG>ggA	p.G1201G	ARHGEF12_ENST00000532993.1_Silent_p.G1098G|ARHGEF12_ENST00000356641.3_Silent_p.G1182G	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1201					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GTACCTCTGGGAAATCAGAGG	0.403			T	MLL	AML																																		uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(3601-3603)GGG>GGA		Rho guanine nucleotide exchange factor (GEF) 12							88.0	81.0	83.0					11																	120348935		1869	4115	5984	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120348935G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3603G>A	11.37:g.120348935G>A						ARHGEF12_uc009zat.2_Silent_p.G1182G|ARHGEF12_uc009zau.1_Silent_p.G1098G	p.G1201G	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	37	3610	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1201					O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.3603G>A	CCDS41727.1																																																																																				0.403	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		5	48	0	0	0	0.001168	0	5	48				
OR6T1	219874	broad.mit.edu	37	11	123814296	123814296	+	Missense_Mutation	SNP	C	C	A	rs148288062		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:123814296C>A	ENST00000321252.2	-	1	284	c.250G>T	c.(250-252)Gtc>Ttc	p.V84F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGAGGATGACGACAAGCATC	0.502																																							uc010sab.1		NA																	0				ovary(1)	1						c.(250-252)GTC>TTC		olfactory receptor, family 6, subfamily T,							125.0	104.0	111.0					11																	123814296		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814296C>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.250G>T	11.37:g.123814296C>A	ENSP00000325203:p.Val84Phe						p.V84F	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	250	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	84			Extracellular (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.250G>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157222	0.09236	.	.	ENSG00000181499	ENST00000321252	T	0.00902	5.56	4.26	-4.24	0.03777	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00906	0.0030	N	0.25485	0.75	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42565	-0.9444	9	0.87932	D	0	-52.6331	10.7747	0.46342	0.0:0.4368:0.0:0.5632	.	84	Q8NGN1	OR6T1_HUMAN	F	84	ENSP00000325203:V84F	ENSP00000325203:V84F	V	-	1	0	OR6T1	123319506	0.000000	0.05858	0.009000	0.14445	0.070000	0.16714	-2.666000	0.00847	-0.994000	0.03463	-1.099000	0.02127	GTC		0.502	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		9	62	1	0	3.07112e-06	0.010729	3.72761e-06	9	62				
JAM3	83700	broad.mit.edu	37	11	134014219	134014219	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:134014219C>A	ENST00000299106.4	+	4	499	c.340C>A	c.(340-342)Cgc>Agc	p.R114S	JAM3_ENST00000529443.2_Missense_Mutation_p.R159S|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	114	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AGCCCTTTATCGCTGTGAGGT	0.498																																							uc001qhb.1		NA																	0				ovary(1)	1						c.(475-477)CGC>AGC		junctional adhesion molecule 3 precursor							174.0	144.0	154.0					11																	134014219		2201	4297	6498	SO:0001583	missense	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134014219C>A	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.340C>A	11.37:g.134014219C>A	ENSP00000299106:p.Arg114Ser					JAM3_uc009zcz.1_Intron	p.R159S	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	4	499	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	114			Extracellular (Potential).|Ig-like V-type.		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	c.475C>A	CCDS8494.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652870|4.652870	0.88056|0.88056	.|.	.|.	ENSG00000166086|ENSG00000166086	ENST00000299106|ENST00000534549	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74030|.	0.3663|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.74331|.	-0.3700|.	9|.	0.27082|.	T|.	0.32|.	.|.	16.5704|16.5704	0.84611|0.84611	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	114|.	Q9BX67|.	JAM3_HUMAN|.	S|X	159|58	.|.	ENSP00000299106:R159S|.	R|S	+|+	1|2	0|0	JAM3|JAM3	133519429|133519429	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.792000|0.792000	0.44763|0.44763	6.570000|6.570000	0.73996|0.73996	2.349000|2.349000	0.79799|0.79799	0.561000|0.561000	0.74099|0.74099	CGC|TCG		0.498	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		17	66	1	0	7.45023e-12	0.010504	1.09314e-11	17	66				
WNK1	65125	broad.mit.edu	37	12	994776	994776	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:994776C>T	ENST00000315939.6	+	19	5449	c.4806C>T	c.(4804-4806)ccC>ccT	p.P1602P	WNK1_ENST00000340908.4_Silent_p.P1195P|WNK1_ENST00000535572.1_Silent_p.P1355P|WNK1_ENST00000530271.2_Silent_p.P2100P|WNK1_ENST00000537687.1_Silent_p.P1862P	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1602					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTATCCCACCCTTGGTACAGC	0.483																																					Colon(19;451 567 6672 12618 28860)	Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4804-4806)CCC>CCT		WNK lysine deficient protein kinase 1							154.0	148.0	150.0					12																	994776		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994776C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4806C>T	12.37:g.994776C>T						WNK1_uc001qip.3_Silent_p.P1355P|WNK1_uc001qir.3_Silent_p.P775P	p.P1602P	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5313	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1602					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.4806C>T	CCDS8506.1																																																																																				0.483	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		27	83	0	0	0	0.004656	0	27	83				
TEAD4	7004	broad.mit.edu	37	12	3129840	3129840	+	Silent	SNP	G	G	T	rs528384294		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:3129840G>T	ENST00000397122.2	+	7	522	c.237G>T	c.(235-237)gcG>gcT	p.A79A	TEAD4_ENST00000358409.2_Silent_p.A165A|TEAD4_ENST00000359864.2_Silent_p.A208A	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	208					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CGCCCTCTGCGCCCCCGGCAC	0.677																																							uc010sej.1		NA																	0					0						c.(619-621)GCG>GCT		TEA domain family member 4 isoform 1							60.0	50.0	54.0					12																	3129840		2203	4300	6503	SO:0001819	synonymous_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3129840G>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.237G>T	12.37:g.3129840G>T						TEAD4_uc010sek.1_Silent_p.A164A|TEAD4_uc001qln.2_Silent_p.A79A	p.A207A	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		9	898	+	Ovarian(42;0.211)		208					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Silent	SNP	ENST00000397122.2	37	c.621G>T	CCDS41737.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100330	0.37048	.	.	ENSG00000197905	ENST00000544666	T	0.30981	1.51	4.84	-6.56	0.01848	.	0.132261	0.34676	N	0.003775	T	0.26666	0.0652	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.19031	-1.0318	7	0.36615	T	0.2	-8.8732	6.6048	0.22720	0.4314:0.301:0.2676:0.0	.	.	.	.	S	131	ENSP00000441959:A131S	ENSP00000441959:A131S	A	+	1	0	TEAD4	3000101	0.000000	0.05858	0.779000	0.31741	0.706000	0.40770	-1.484000	0.02316	-0.692000	0.05128	-0.290000	0.09829	GCC		0.677	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		21	47	1	0	1.96292e-10	0.010504	2.75807e-10	21	47				
GALNT8	26290	broad.mit.edu	37	12	4835915	4835915	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:4835915C>T	ENST00000252318.2	+	2	766	c.429C>T	c.(427-429)ctC>ctT	p.L143L	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	143					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCCAGGACCTCTTCCGGAAGT	0.557																																					Colon(108;631 1558 7270 20097 39846)	Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(427-429)CTC>CTT		polypeptide N-acetylgalactosaminyltransferase 8							73.0	68.0	70.0					12																	4835915		2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835915C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.429C>T	12.37:g.4835915C>T							p.L143L	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			2	521	+			143			Lumenal (Potential).		B2RU02	Silent	SNP	ENST00000252318.2	37	c.429C>T	CCDS8533.1																																																																																				0.557	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		6	79	0	0	0	0.00308	0	6	79				
KLHL42	57542	broad.mit.edu	37	12	27944681	27944681	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:27944681G>T	ENST00000381271.2	+	2	1224	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S		NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	305					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AAAACTCTATGCCATCGGAGG	0.468																																							uc001rij.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(913-915)GCC>TCC		kelch domain containing 5							203.0	194.0	197.0					12																	27944681		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27944681G>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.913G>T	12.37:g.27944681G>T	ENSP00000370671:p.Ala305Ser					KLHDC5_uc009zjj.2_RNA	p.A305S	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN			2	990	+	Lung SC(9;0.0873)		305			Kelch 3.		Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.913G>T	CCDS31763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.044444|5.044444	0.93685|0.93685	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000381271|ENST00000543254	T|.	0.79940|.	-1.32|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Kelch-type beta propeller (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83385|0.83385	0.5243|0.5243	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	D|D	0.86298|0.86298	0.1678|0.1678	10|5	0.72032|.	D|.	0.01|.	.|.	17.1803|17.1803	0.86853|0.86853	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	305|.	Q9P2K6|.	KLDC5_HUMAN|.	S|F	305|126	ENSP00000370671:A305S|.	ENSP00000370671:A305S|.	A|C	+|+	1|2	0|0	KLHDC5|KLHDC5	27835948|27835948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.069000|9.069000	0.93967|0.93967	2.505000|2.505000	0.84491|0.84491	0.650000|0.650000	0.86243|0.86243	GCC|TGC		0.468	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		50	141	1	0	8.28887e-21	0.01441	1.41973e-20	50	141				
ADAMTS20	80070	broad.mit.edu	37	12	43770388	43770389	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:43770388_43770389GG>TT	ENST00000389420.3	-	33	5062_5063	c.5063_5064CC>AA	c.(5062-5064)tCC>tAA	p.S1688*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1688	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAAGTCACTGGACAAACCATG	0.347																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(5062-5064)TCC>TAA		a disintegrin-like and metalloprotease with																																				SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43770388_43770389GG>TT	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5063_5064delinsTT	12.37:g.43770388_43770389delinsTT	ENSP00000374071:p.Ser1688*						p.S1688*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	33	5063_5064	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1688			TSP type-1 15.		A6NNC9|J3QT00	Nonsense_Mutation	DNP	ENST00000389420.3	37	c.5063_5064CC>AA	CCDS31778.2																																																																																				0.347	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		7	24	0	0	0	0.004672	0	7	24				
TUBA1B	10376	broad.mit.edu	37	12	49523382	49523382	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:49523382C>A	ENST00000336023.5	-	2	221	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	43					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TCTCCTCCCCCAATGGTCTTG	0.587																																							uc001rtm.2		NA																	0					0						c.(127-129)GGG>TGG		tubulin, alpha, ubiquitous							135.0	122.0	126.0					12																	49523382		2203	4300	6503	SO:0001583	missense	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523382C>A	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.127G>T	12.37:g.49523382C>A	ENSP00000336799:p.Gly43Trp					TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Missense_Mutation_p.G8W|TUBA1B_uc001rtl.2_Missense_Mutation_p.G8W|TUBA1B_uc001rtn.2_5'UTR	p.G43W	NM_006082	NP_006073	P68363	TBA1B_HUMAN			2	348	-			43					P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	c.127G>T	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	c	15.17	2.752782	0.49362	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367;ENST00000549870;ENST00000547476;ENST00000552984	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	4.73	4.73	0.59995	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.45606	U	0.000351	D	0.86138	0.5861	M	0.93978	3.48	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.90286	0.4319	10	0.87932	D	0	.	16.5465	0.84448	0.0:1.0:0.0:0.0	.	43	P68363	TBA1B_HUMAN	W	43;43;43;43;8;8;8	ENSP00000336799:G43W;ENSP00000449325:G43W;ENSP00000449460:G8W;ENSP00000449748:G8W;ENSP00000448648:G8W	ENSP00000336799:G43W	G	-	1	0	TUBA1B	47809649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.943000	0.56621	2.169000	0.68431	0.650000	0.86243	GGG		0.587	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		15	115	1	0	4.14922e-12	0.004007	6.15331e-12	15	115				
KCNH3	23416	broad.mit.edu	37	12	49951315	49951315	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:49951315C>T	ENST00000257981.6	+	15	3091	c.2831C>T	c.(2830-2832)gCa>gTa	p.A944V	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	944					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GACACTGGGGCATCCTCCTAC	0.711																																							uc001ruh.1		NA																	0					0						c.(2830-2832)GCA>GTA		potassium voltage-gated channel, subfamily H							48.0	46.0	47.0					12																	49951315		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49951315C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2831C>T	12.37:g.49951315C>T	ENSP00000257981:p.Ala944Val					KCNH3_uc010smj.1_Missense_Mutation_p.A884V	p.A944V	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			15	3091	+			944			Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2831C>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724837	0.30593	.	.	ENSG00000135519	ENST00000257981	D	0.98777	-5.13	4.94	4.05	0.47172	.	1.007560	0.07991	N	0.987157	D	0.94873	0.8343	N	0.08118	0	0.23107	N	0.998281	B	0.02656	0.0	B	0.01281	0.0	D	0.89987	0.4105	10	0.44086	T	0.13	.	9.083	0.36563	0.0:0.9006:0.0:0.0994	.	944	Q9ULD8	KCNH3_HUMAN	V	944	ENSP00000257981:A944V	ENSP00000257981:A944V	A	+	2	0	KCNH3	48237582	0.026000	0.19158	0.026000	0.17262	0.975000	0.68041	0.649000	0.24843	1.313000	0.45069	0.561000	0.74099	GCA		0.711	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		17	39	0	0	0	0.010504	0	17	39				
FAM186B	84070	broad.mit.edu	37	12	49994704	49994704	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:49994704A>G	ENST00000257894.2	-	4	880	c.719T>C	c.(718-720)gTg>gCg	p.V240A	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.V150A|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	240						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGTTCTCCACCACAGTGGC	0.572																																							uc001ruo.2		NA																	0				ovary(1)	1						c.(718-720)GTG>GCG		hypothetical protein LOC84070							126.0	102.0	111.0					12																	49994704		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49994704A>G	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.719T>C	12.37:g.49994704A>G	ENSP00000257894:p.Val240Ala					FAM186B_uc010smk.1_Missense_Mutation_p.V150A	p.V240A	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN			4	892	-			240					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.719T>C	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.847981	0.51164	.	.	ENSG00000135436	ENST00000544141;ENST00000257894	T;T	0.23552	1.9;2.13	5.11	5.11	0.69529	.	0.367231	0.19941	N	0.102657	T	0.40570	0.1122	L	0.43923	1.385	0.26262	N	0.97856	D;D	0.71674	0.994;0.998	P;D	0.72625	0.888;0.978	T	0.17228	-1.0376	9	.	.	.	-9.2357	11.6079	0.51043	1.0:0.0:0.0:0.0	.	150;240	B4DZ15;Q8IYM0	.;F186B_HUMAN	A	150;240	ENSP00000438569:V150A;ENSP00000257894:V240A	.	V	-	2	0	FAM186B	48280971	0.996000	0.38824	0.570000	0.28473	0.454000	0.32378	4.702000	0.61817	2.082000	0.62665	0.528000	0.53228	GTG		0.572	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		4	24	0	0	0	0.001168	0	4	24				
FMNL3	91010	broad.mit.edu	37	12	50062266	50062266	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:50062266C>T	ENST00000293590.5	-	2	431	c.198G>A	c.(196-198)ctG>ctA	p.L66L	FMNL3_ENST00000335154.5_Silent_p.L66L|FMNL3_ENST00000550488.1_Silent_p.L66L|FMNL3_ENST00000352151.5_Silent_p.L66L			Q8IVF7	FMNL3_HUMAN	formin-like 3	66	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGTCACAGATCAGATCCCATT	0.552																																							uc001ruv.1		NA																	0				breast(2)|pancreas(2)	4						c.(196-198)CTG>CTA		formin-like 3 isoform 1							172.0	175.0	174.0					12																	50062266		1911	4134	6045	SO:0001819	synonymous_variant	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50062266C>T	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.198G>A	12.37:g.50062266C>T						FMNL3_uc001ruw.1_Silent_p.L66L	p.L66L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			2	432	-			66			GBD/FH3.		B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37	c.198G>A																																																																																					0.552	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		31	116	0	0	0	0.003271	0	31	116				
CSRNP2	81566	broad.mit.edu	37	12	51458021	51458021	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:51458021G>A	ENST00000228515.1	-	5	1437	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	380					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GAGCCTGGATGAGAATGGGGG	0.597																																							uc001rxu.1		NA																	0					0						c.(1138-1140)CTC>CTT		TGF-beta induced apoptosis protein 12							72.0	79.0	77.0					12																	51458021		2203	4300	6503	SO:0001819	synonymous_variant	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51458021G>A	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.1140C>T	12.37:g.51458021G>A							p.L380L	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN			5	1438	-			380						Silent	SNP	ENST00000228515.1	37	c.1140C>T	CCDS8807.1																																																																																				0.597	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			7	90	0	0	0	0.004482	0	7	90				
SLC4A8	9498	broad.mit.edu	37	12	51863459	51863459	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:51863459C>A	ENST00000453097.2	+	12	1628	c.1411C>A	c.(1411-1413)Cga>Aga	p.R471R	SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000514353.3_Silent_p.R418R|SLC4A8_ENST00000535225.2_Silent_p.R418R|SLC4A8_ENST00000358657.3_Silent_p.R498R|SLC4A8_ENST00000394856.1_Silent_p.R418R	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAGCGACTACCGAGATGCACT	0.542																																							uc001rys.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1411-1413)CGA>AGA		solute carrier family 4, sodium bicarbonate							243.0	198.0	213.0					12																	51863459		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51863459C>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1411C>A	12.37:g.51863459C>A						SLC4A8_uc010sni.1_Silent_p.R418R|SLC4A8_uc001rym.2_Silent_p.R418R|SLC4A8_uc001ryn.2_Silent_p.R418R|SLC4A8_uc001ryo.2_Silent_p.R418R|SLC4A8_uc010snj.1_Silent_p.R498R|SLC4A8_uc001ryq.3_Silent_p.R471R|SLC4A8_uc001ryr.2_Silent_p.R471R|SLC4A8_uc010snk.1_Silent_p.R418R	p.R471R	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	12	1589	+			471			Extracellular (Potential).			Silent	SNP	ENST00000453097.2	37	c.1411C>A	CCDS44890.1																																																																																				0.542	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		9	87	1	0	0.00829132	0.008291	0.00888049	9	87				
KRT85	3891	broad.mit.edu	37	12	52757119	52757119	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:52757119T>C	ENST00000257901.3	-	5	937	c.862A>G	c.(862-864)Atg>Gtg	p.M288V	KRT85_ENST00000544265.1_Missense_Mutation_p.M76V	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	288	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGCAGTCCATGTTCAGGTCT	0.577																																							uc001sag.2		NA																	0				ovary(1)	1						c.(862-864)ATG>GTG		keratin 85							144.0	96.0	112.0					12																	52757119		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52757119T>C	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.862A>G	12.37:g.52757119T>C	ENSP00000257901:p.Met288Val						p.M288V	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	982	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		288			Rod.|Coil 2.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.862A>G	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520786	0.44866	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.88509	-2.39;-2.39	4.83	3.63	0.41609	Filament (1);	0.000000	0.64402	D	0.000001	D	0.85961	0.5819	M	0.70108	2.13	0.23636	N	0.997236	B	0.16396	0.017	B	0.18871	0.023	T	0.76756	-0.2842	10	0.44086	T	0.13	.	7.8458	0.29424	0.1197:0.0:0.3521:0.5282	.	288	P78386	KRT85_HUMAN	V	288;76	ENSP00000257901:M288V;ENSP00000440240:M76V	ENSP00000257901:M288V	M	-	1	0	KRT85	51043386	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	0.368000	0.20399	1.803000	0.52742	0.459000	0.35465	ATG		0.577	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		9	54	0	0	0	0.004482	0	9	54				
KRT75	9119	broad.mit.edu	37	12	52827880	52827880	+	Missense_Mutation	SNP	C	C	A	rs368893997		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:52827880C>A	ENST00000252245.5	-	1	429	c.209G>T	c.(208-210)cGg>cTg	p.R70L		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	70	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GATGGAGACCCGCTTGGCACC	0.632																																							uc001saj.2		NA																	0					0						c.(208-210)CGG>CTG		keratin 75							58.0	62.0	61.0					12																	52827880		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52827880C>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.209G>T	12.37:g.52827880C>A	ENSP00000252245:p.Arg70Leu						p.R70L	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	231	-			70			Gly-rich.|Head.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.209G>T	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274675	0.23307	.	.	ENSG00000170454	ENST00000252245	T	0.38722	1.12	5.74	4.84	0.62591	.	0.124962	0.33401	N	0.004947	T	0.58566	0.2131	M	0.83384	2.64	0.20638	N	0.999879	P	0.43287	0.802	P	0.48089	0.566	T	0.59495	-0.7444	10	0.72032	D	0.01	.	16.9954	0.86366	0.0:0.8728:0.1272:0.0	.	70	O95678	K2C75_HUMAN	L	70	ENSP00000252245:R70L	ENSP00000252245:R70L	R	-	2	0	KRT75	51114147	0.000000	0.05858	0.725000	0.30721	0.142000	0.21351	1.015000	0.29963	1.397000	0.46682	0.655000	0.94253	CGG		0.632	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		14	79	1	0	6.81908e-15	0.00245	1.08503e-14	14	79				
KRT74	121391	broad.mit.edu	37	12	52962019	52962019	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:52962019C>T	ENST00000305620.2	-	7	1336	c.1289G>A	c.(1288-1290)aGc>aAc	p.S430N	KRT74_ENST00000549343.1_Missense_Mutation_p.S444N	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	430	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGTTTCAGGCTCATGAGCTC	0.637																																							uc001sap.1		NA																	0		p.S430S(1)		ovary(1)|skin(1)	2						c.(1288-1290)AGC>AAC		keratin 6 irs4							98.0	88.0	92.0					12																	52962019		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52962019C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1289G>A	12.37:g.52962019C>T	ENSP00000307240:p.Ser430Asn						p.S430N	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	7	1337	-			430			Rod.|Coil 2.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.1289G>A	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	4.654	0.121543	0.08881	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.87029	-2.2;-2.2	4.57	3.67	0.42095	Filament (1);	0.175036	0.27856	N	0.017573	T	0.58481	0.2125	N	0.00471	-1.455	0.25545	N	0.987146	B	0.22541	0.071	B	0.29785	0.107	T	0.58763	-0.7579	10	0.02654	T	1	.	6.7089	0.23266	0.177:0.7026:0.0:0.1203	.	430	Q7RTS7	K2C74_HUMAN	N	444;430	ENSP00000447447:S444N;ENSP00000307240:S430N	ENSP00000307240:S430N	S	-	2	0	KRT74	51248286	0.983000	0.35010	0.891000	0.34965	0.986000	0.74619	2.182000	0.42556	1.215000	0.43411	0.655000	0.94253	AGC		0.637	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		24	84	0	0	0	0.008361	0	24	84				
KRT2	3849	broad.mit.edu	37	12	53045387	53045387	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:53045387C>T	ENST00000309680.3	-	1	561	c.540G>A	c.(538-540)gaG>gaA	p.E180E		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	180	Coil 1A.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTTTGATCTGCTCACGCTCTT	0.522																																							uc001sat.2		NA																	0				ovary(2)	2						c.(538-540)GAG>GAA		keratin 2							150.0	141.0	144.0					12																	53045387		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045387C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.540G>A	12.37:g.53045387C>T							p.E180E	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	573	-			180			Coil 1A.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.540G>A	CCDS8835.1																																																																																				0.522	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		10	77	0	0	0	0.008291	0	10	77				
NEUROD4	58158	broad.mit.edu	37	12	55420403	55420403	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:55420403G>A	ENST00000242994.3	+	2	558	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	60	Asp/Glu-rich (acidic).				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						aagaagaagaggaagaagaTG	0.473																																							uc001sgp.3		NA																	0				ovary(3)|skin(1)	4						c.(178-180)GAG>GAA		neurogenic differentiation 4							53.0	48.0	49.0					12																	55420403		2203	4300	6503	SO:0001819	synonymous_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420403G>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.180G>A	12.37:g.55420403G>A							p.E60E	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	558	+			60			Asp/Glu-rich (acidic).		B2RAC9	Silent	SNP	ENST00000242994.3	37	c.180G>A	CCDS8886.1																																																																																				0.473	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			3	16	0	0	0	0.004672	0	3	16				
OR10A7	121364	broad.mit.edu	37	12	55615705	55615705	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:55615705G>T	ENST00000326258.1	+	1	897	c.897G>T	c.(895-897)ggG>ggT	p.G299G		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AAGTGAAAGGGGCTGTCAAGA	0.438																																							uc010spf.1		NA																	0				ovary(4)	4						c.(895-897)GGG>GGT		olfactory receptor, family 10, subfamily A,							79.0	66.0	70.0					12																	55615705		2203	4299	6502	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615705G>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.897G>T	12.37:g.55615705G>T							p.G299G	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	897	+			299			Cytoplasmic (Potential).		Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.897G>T	CCDS31815.1																																																																																				0.438	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			11	54	1	0	1.5842e-08	0.001855	2.09458e-08	11	54				
INHBE	83729	broad.mit.edu	37	12	57850300	57850300	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:57850300A>T	ENST00000266646.2	+	2	938	c.722A>T	c.(721-723)gAg>gTg	p.E241V	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	241					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCCACCTGTGAGCCTGCGACC	0.607											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	GBM(191;1808 2166 15720 36624 50371)	uc001snw.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(721-723)GAG>GTG		activin beta E precursor							79.0	90.0	86.0					12																	57850300		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57850300A>T		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.722A>T	12.37:g.57850300A>T	ENSP00000266646:p.Glu241Val		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026		p.E241V	NM_031479	NP_113667	P58166	INHBE_HUMAN			2	946	+			241						Missense_Mutation	SNP	ENST00000266646.2	37	c.722A>T	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047445	0.36085	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	T;T	0.63580	-0.05;-0.05	4.79	3.65	0.41850	Transforming growth factor-beta, C-terminal (1);	0.112469	0.64402	D	0.000013	T	0.49287	0.1548	L	0.34521	1.04	0.42098	D	0.991326	B	0.17038	0.02	B	0.14023	0.01	T	0.48603	-0.9021	10	0.66056	D	0.02	-6.3818	9.9227	0.41474	0.9177:0.0:0.0823:0.0	.	241	P58166	INHBE_HUMAN	V	186;241	ENSP00000450212:E186V;ENSP00000266646:E241V	ENSP00000266646:E241V	E	+	2	0	INHBE	56136567	0.839000	0.29477	0.981000	0.43875	0.793000	0.44817	1.571000	0.36450	0.963000	0.38082	-0.274000	0.10170	GAG		0.607	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		27	104	0	0	0	0.008361	0	27	104				
ARHGEF25	115557	broad.mit.edu	37	12	58008550	58008550	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:58008550C>A	ENST00000286494.4	+	9	1355	c.895C>A	c.(895-897)Cag>Aag	p.Q299K	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.Q338K|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	299	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Important for binding to Rho GTPases.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CATGAAATACCAGCTGCTGCT	0.612																																							uc001spb.2		NA																	0					0						c.(895-897)CAG>AAG		RhoA/RAC/CDC42 exchange factor isoform 1							27.0	29.0	28.0					12																	58008550		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58008550C>A		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.895C>A	12.37:g.58008550C>A	ENSP00000286494:p.Gln299Lys					GEFT_uc009zpy.2_Missense_Mutation_p.Q338K|GEFT_uc001soz.1_Missense_Mutation_p.Q173K|GEFT_uc001spa.2_Missense_Mutation_p.Q193K|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.Q4K	p.Q299K	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			9	1355	+	Melanoma(17;0.122)		299			Important for binding to Rho GTPases.|DH.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.895C>A	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.521155	0.85600	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.67698	-0.28;-0.28	4.39	4.39	0.52855	Dbl homology (DH) domain (5);	0.000000	0.35970	N	0.002878	D	0.82756	0.5106	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.966	D;D;P	0.85130	0.997;0.993;0.897	D	0.85931	0.1452	10	0.87932	D	0	.	16.273	0.82630	0.0:1.0:0.0:0.0	.	338;299;173	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	K	338;173;299	ENSP00000335560:Q338K;ENSP00000286494:Q299K	ENSP00000286494:Q299K	Q	+	1	0	ARHGEF25	56294817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.275000	0.78548	2.436000	0.82500	0.563000	0.77884	CAG		0.612	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		3	19	1	0	0.004672	0.004672	0.00504308	3	19				
MSRB3	253827	broad.mit.edu	37	12	65672556	65672556	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:65672556C>A	ENST00000355192.3	+	1	134	c.8C>A	c.(7-9)cCg>cAg	p.P3Q	MSRB3_ENST00000308259.5_5'UTR|MSRB3_ENST00000535664.1_5'UTR|RP11-305O6.3_ENST00000545709.1_RNA|MSRB3_ENST00000540804.1_Missense_Mutation_p.P3Q|MSRB3_ENST00000538725.1_3'UTR	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	3					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TCCATGAGCCCGCGGCGGACC	0.746																																							uc001ssn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(7-9)CCG>CAG		methionine sulfoxide reductase B3 isoform 1							12.0	14.0	13.0					12																	65672556		2143	4225	6368	SO:0001583	missense	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65672556C>A	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.8C>A	12.37:g.65672556C>A	ENSP00000347324:p.Pro3Gln					MSRB3_uc001ssm.2_5'UTR|MSRB3_uc009zqp.2_5'UTR	p.P3Q	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	1	69	+			3					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.8C>A	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389113	0.42410	.	.	ENSG00000174099	ENST00000355192;ENST00000540804	T;T	0.66638	-0.11;-0.22	3.66	-1.42	0.08913	.	.	.	.	.	T	0.36166	0.0957	N	0.08118	0	0.27419	N	0.95436	B	0.06786	0.001	B	0.06405	0.002	T	0.18398	-1.0338	8	.	.	.	.	2.1179	0.03718	0.1901:0.3601:0.3301:0.1198	.	3	Q8IXL7	MSRB3_HUMAN	Q	3	ENSP00000347324:P3Q;ENSP00000437623:P3Q	.	P	+	2	0	MSRB3	63958823	0.160000	0.22878	0.826000	0.32828	0.326000	0.28443	-0.135000	0.10420	0.058000	0.16222	0.305000	0.20034	CCG		0.746	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		5	9	1	0	1.6384e-10	0.001984	2.32177e-10	5	9				
NAV3	89795	broad.mit.edu	37	12	78516155	78516155	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:78516155G>C	ENST00000397909.2	+	16	4358	c.4185G>C	c.(4183-4185)gaG>gaC	p.E1395D	NAV3_ENST00000536525.2_Missense_Mutation_p.E1395D|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.E1395D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1395	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCACTCACGAGGTCCAGAGCC	0.552										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4183-4185)GAG>GAC		neuron navigator 3							111.0	102.0	105.0					12																	78516155		2023	4191	6214	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78516155G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4185G>C	12.37:g.78516155G>C	ENSP00000381007:p.Glu1395Asp	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.E1395D|NAV3_uc010sub.1_Missense_Mutation_p.E895D|NAV3_uc009zsf.2_Intron	p.E1395D	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	4358	+			1395			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4185G>C		.	.	.	.	.	.	.	.	.	.	G	11.25	1.583809	0.28268	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000378640;ENST00000550788	T;T;T;T	0.26223	1.76;1.78;1.75;2.52	5.97	5.08	0.68730	.	0.000000	0.40554	U	0.001079	T	0.26412	0.0645	N	0.14661	0.345	0.80722	D	1	B;D;D	0.61697	0.003;0.965;0.99	B;D;D	0.73380	0.011;0.914;0.98	T	0.11131	-1.0600	10	0.02654	T	1	-23.5198	11.2786	0.49181	0.139:0.0:0.861:0.0	.	1395;1395;1395	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	D	1395;1395;1395;30;38	ENSP00000446132:E1395D;ENSP00000381007:E1395D;ENSP00000228327:E1395D;ENSP00000448303:E38D	ENSP00000228327:E1395D	E	+	3	2	NAV3	77040286	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.036000	0.49767	1.534000	0.49203	-0.140000	0.14226	GAG		0.552	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		15	79	0	0	0	0.004007	0	15	79				
MYF5	4617	broad.mit.edu	37	12	81112163	81112163	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:81112163C>A	ENST00000228644.3	+	2	680	c.528C>A	c.(526-528)tcC>tcA	p.S176S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	176					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTGTCTGGTCCAGAAAGAGCA	0.398																																							uc001szg.2		NA																	0				ovary(1)	1						c.(526-528)TCC>TCA		myogenic factor 5							227.0	205.0	213.0					12																	81112163		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112163C>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.528C>A	12.37:g.81112163C>A							p.S176S	NM_005593	NP_005584	P13349	MYF5_HUMAN			2	663	+			176					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.528C>A	CCDS9020.1																																																																																				0.398	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		20	166	1	0	9.04412e-07	0.004656	1.11571e-06	20	166				
TMTC3	160418	broad.mit.edu	37	12	88586476	88586476	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:88586476A>T	ENST00000266712.6	+	13	2022	c.1802A>T	c.(1801-1803)tAc>tTc	p.Y601F		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	601					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GATCTTTGGTACAACTTGGCA	0.338																																							uc001tau.2		NA																	0				skin(1)	1						c.(1801-1803)TAC>TTC		transmembrane and tetratricopeptide repeat							96.0	100.0	99.0					12																	88586476		2203	4299	6502	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88586476A>T		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1802A>T	12.37:g.88586476A>T	ENSP00000266712:p.Tyr601Phe						p.Y601F	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			13	2022	+			601			TPR 6.		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1802A>T	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822405	0.90873	.	.	ENSG00000139324	ENST00000266712	T	0.60299	0.2	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	L	0.31207	0.915	0.80722	D	1	P	0.44627	0.839	P	0.49561	0.615	T	0.46303	-0.9201	10	0.10902	T	0.67	-7.5245	15.9748	0.80054	1.0:0.0:0.0:0.0	.	601	Q6ZXV5-2	.	F	601	ENSP00000266712:Y601F	ENSP00000266712:Y601F	Y	+	2	0	TMTC3	87110607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.319000	0.96338	2.183000	0.69458	0.477000	0.44152	TAC		0.338	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		12	47	0	0	0	0.010729	0	12	47				
KERA	11081	broad.mit.edu	37	12	91449195	91449195	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:91449195G>A	ENST00000266719.3	-	2	1111	c.864C>T	c.(862-864)caC>caT	p.H288H		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	288					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TATGATCAAGGTGAAGGTGCT	0.373																																							uc001tbl.2		NA																	0				skin(1)	1						c.(862-864)CAC>CAT		keratocan precursor							108.0	104.0	105.0					12																	91449195		2203	4299	6502	SO:0001819	synonymous_variant	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449195G>A	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.864C>T	12.37:g.91449195G>A							p.H288H	NM_007035	NP_008966	O60938	KERA_HUMAN			2	1483	-			288			LRR 10.			Silent	SNP	ENST00000266719.3	37	c.864C>T	CCDS9037.1																																																																																				0.373	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		5	68	0	0	0	0.001984	0	5	68				
UTP20	27340	broad.mit.edu	37	12	101760420	101760420	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:101760420G>T	ENST00000261637.4	+	47	6384	c.6210G>T	c.(6208-6210)caG>caT	p.Q2070H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2070					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGGTGGACAGAAAGCTGTTG	0.498																																							uc001tia.1		NA																	0				ovary(2)|breast(2)	4						c.(6208-6210)CAG>CAT		down-regulated in metastasis							166.0	152.0	157.0					12																	101760420		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101760420G>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6210G>T	12.37:g.101760420G>T	ENSP00000261637:p.Gln2070His						p.Q2070H	NM_014503	NP_055318	O75691	UTP20_HUMAN			47	6366	+			2070					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6210G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400850	0.25291	.	.	ENSG00000120800	ENST00000261637	T	0.17854	2.25	5.37	-3.6	0.04570	Armadillo-type fold (1);	0.585977	0.18750	N	0.132210	T	0.12433	0.0302	L	0.50333	1.59	0.21841	N	0.999512	P	0.39157	0.662	B	0.39876	0.312	T	0.08827	-1.0703	10	0.45353	T	0.12	-1.8099	4.3146	0.10986	0.5597:0.1081:0.2223:0.11	.	2070	O75691	UTP20_HUMAN	H	2070	ENSP00000261637:Q2070H	ENSP00000261637:Q2070H	Q	+	3	2	UTP20	100284551	0.035000	0.19736	0.017000	0.16124	0.696000	0.40369	0.054000	0.14205	-0.871000	0.04042	-0.253000	0.11424	CAG		0.498	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		36	126	1	0	1.836e-18	0.003755	3.08106e-18	36	126				
ACACB	32	broad.mit.edu	37	12	109654631	109654632	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:109654631_109654632GG>TT	ENST00000338432.7	+	24	3589_3590	c.3470_3471GG>TT	c.(3469-3471)aGG>aTT	p.R1157I	ACACB_ENST00000377848.3_Missense_Mutation_p.R1157I|ACACB_ENST00000377854.5_Intron			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1157					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ATAAACCTCAGGGAGCAGTTCA	0.554																																							uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3469-3471)AGG>ATT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)																																			SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109654631_109654632GG>TT	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	Exception_encountered	12.37:g.109654631_109654632delinsTT	ENSP00000341044:p.Arg1157Ile					ACACB_uc001toc.2_Missense_Mutation_p.R1157I	p.R1157I	NM_001093	NP_001084	O00763	ACACB_HUMAN			24	3589_3590	+			1157					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	DNP	ENST00000338432.7	37	c.3470_3471GG>TT	CCDS31898.1																																																																																				0.554	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		12	92	0	0	0	0.004672	0	12	92				
CUX2	23316	broad.mit.edu	37	12	111785442	111785442	+	Silent	SNP	G	G	T	rs200919469	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:111785442G>T	ENST00000261726.6	+	22	3928	c.3774G>T	c.(3772-3774)ccG>ccT	p.P1258P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1258					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACCCCACCCCGCAGAGCCCTG	0.637																																							uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(3772-3774)CCG>CCT		cut-like 2							43.0	51.0	49.0					12																	111785442		1917	4118	6035	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785442G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3774G>T	12.37:g.111785442G>T							p.P1258P	NM_015267	NP_056082	O14529	CUX2_HUMAN			22	3927	+			1258					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.3774G>T	CCDS41837.1																																																																																				0.637	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		5	59	1	0	5.18039e-06	0.00308	6.22398e-06	5	59				
PLBD2	196463	broad.mit.edu	37	12	113812710	113812710	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:113812710G>T	ENST00000280800.3	+	5	788	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C	PLBD2_ENST00000547163.1_3'UTR|PLBD2_ENST00000545182.2_Missense_Mutation_p.G253C	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	253					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCTGCTCCCTGGCCAGAGTGA	0.582																																							uc001tve.2		NA																	0					0						c.(757-759)GGC>TGC		phospholipase B domain containing 2 isoform 1							106.0	91.0	96.0					12																	113812710		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113812710G>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.757G>T	12.37:g.113812710G>T	ENSP00000280800:p.Gly253Cys					PLBD2_uc001tvf.2_Missense_Mutation_p.G253C	p.G253C	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN			5	792	+			253					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.757G>T	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707837	0.48412	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.19806	2.12;2.12	4.75	3.63	0.41609	.	0.321575	0.34411	N	0.003998	T	0.48978	0.1530	M	0.85630	2.765	0.25818	N	0.98431	D;D	0.76494	0.999;0.999	D;D	0.80764	0.957;0.994	T	0.44050	-0.9353	10	0.87932	D	0	-40.5093	13.7936	0.63157	0.0888:0.0:0.9112:0.0	.	253;253	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	C	253	ENSP00000443463:G253C;ENSP00000280800:G253C	ENSP00000280800:G253C	G	+	1	0	PLBD2	112297093	1.000000	0.71417	0.719000	0.30619	0.603000	0.37013	5.083000	0.64456	2.187000	0.69744	0.407000	0.27541	GGC		0.582	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		5	65	1	0	8.12818e-05	0.001984	9.20528e-05	5	65				
COQ5	84274	broad.mit.edu	37	12	120966774	120966774	+	Missense_Mutation	SNP	C	C	A	rs531422278		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:120966774C>A	ENST00000288532.6	-	1	211	c.171G>T	c.(169-171)gaG>gaT	p.E57D	COQ5_ENST00000445328.2_Missense_Mutation_p.E57D	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	57					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGACACAGTCTCAAACCCAA	0.602																																							uc001tyn.2		NA																	0				ovary(1)	1						c.(169-171)GAG>GAT		coenzyme Q5 homolog, methyltransferase							137.0	125.0	129.0					12																	120966774		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120966774C>A	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.171G>T	12.37:g.120966774C>A	ENSP00000288532:p.Glu57Asp					COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Missense_Mutation_p.E57D	p.E57D	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN			1	191	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		57					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.171G>T	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199099	0.58126	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;T;T	0.79454	-0.21;-1.27;-0.39	5.9	0.499	0.16914	.	0.095143	0.64402	D	0.000001	T	0.78868	0.4351	L	0.50993	1.605	0.23483	N	0.997585	P;P	0.46987	0.888;0.775	P;P	0.54706	0.759;0.689	T	0.71764	-0.4494	10	0.66056	D	0.02	.	11.0441	0.47849	0.0:0.6728:0.0:0.3272	.	57;57	B4DP72;Q5HYK3	.;COQ5_HUMAN	D	57	ENSP00000288532:E57D;ENSP00000401798:E57D;ENSP00000449874:E57D	ENSP00000288532:E57D	E	-	3	2	COQ5	119451157	0.996000	0.38824	0.997000	0.53966	0.256000	0.26092	0.343000	0.19944	0.126000	0.18424	-0.140000	0.14226	GAG		0.602	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		30	153	1	0	2.51541e-25	0.004878	4.45572e-25	30	153				
VPS33A	65082	broad.mit.edu	37	12	122734456	122734456	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:122734456T>C	ENST00000267199.4	-	6	849	c.737A>G	c.(736-738)tAt>tGt	p.Y246C	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.Y207C|VPS33A_ENST00000542310.1_5'Flank	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	246					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GAGTCCTTCATATGTCAGCTG	0.358																																							uc001ucd.2		NA																	0				skin(1)	1						c.(736-738)TAT>TGT		vacuolar protein sorting 33A							151.0	146.0	148.0					12																	122734456		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122734456T>C	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.737A>G	12.37:g.122734456T>C	ENSP00000267199:p.Tyr246Cys					VPS33A_uc001ucc.2_RNA	p.Y246C	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	6	850	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		246					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.737A>G	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359766	0.82353	.	.	ENSG00000139719	ENST00000267199;ENST00000536212	D;D	0.94897	-3.55;-3.55	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99305	1.0902	10	0.87932	D	0	-18.3552	15.756	0.78025	0.0:0.0:0.0:1.0	.	246	Q96AX1	VP33A_HUMAN	C	246;51	ENSP00000267199:Y246C;ENSP00000439255:Y51C	ENSP00000446319:Y207C	Y	-	2	0	VPS33A	121300409	1.000000	0.71417	0.118000	0.21660	0.979000	0.70002	7.995000	0.88328	2.131000	0.65755	0.533000	0.62120	TAT		0.358	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			19	103	0	0	0	0.00278	0	19	103				
GOLGA3	2802	broad.mit.edu	37	12	133384862	133384862	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:133384862C>A	ENST00000450791.2	-	4	976	c.793G>T	c.(793-795)Gct>Tct	p.A265S	GOLGA3_ENST00000545875.1_Missense_Mutation_p.A265S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A265S|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A265S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A265S			Q08378	GOGA3_HUMAN	golgin A3	265					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCGGGAGCCGGGACATTT	0.527																																							uc001ukz.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(793-795)GCT>TCT		Golgi autoantigen, golgin subfamily a, 3							132.0	145.0	141.0					12																	133384862		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384862C>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.793G>T	12.37:g.133384862C>A	ENSP00000410378:p.Ala265Ser					GOLGA3_uc001ula.1_Missense_Mutation_p.A265S|GOLGA3_uc001ulb.2_Missense_Mutation_p.A265S	p.A265S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1352	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	265					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.793G>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	7.184	0.590146	0.13812	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.23	2.38	0.29361	.	0.593233	0.18162	N	0.149733	T	0.29028	0.0721	L	0.54323	1.7	0.09310	N	0.999999	P;P;B	0.38827	0.617;0.649;0.079	B;B;B	0.38428	0.173;0.273;0.062	T	0.09729	-1.0661	10	0.59425	D	0.04	.	10.2295	0.43247	0.0:0.7894:0.0:0.2105	.	265;265;265	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	S	265	ENSP00000204726:A265S;ENSP00000410378:A265S;ENSP00000409303:A265S;ENSP00000442143:A265S;ENSP00000442603:A265S	ENSP00000204726:A265S	A	-	1	0	GOLGA3	131894935	0.049000	0.20398	0.000000	0.03702	0.003000	0.03518	0.828000	0.27435	0.293000	0.22520	-0.237000	0.12165	GCT		0.527	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		34	152	1	0	1.59361e-14	0.006999	2.47861e-14	34	152				
GJB2	2706	broad.mit.edu	37	13	20763189	20763189	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:20763189C>T	ENST00000382844.1	-	1	730	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	GJB2_ENST00000382848.4_Missense_Mutation_p.V178M			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	178			V -> A (in DFNB1A). {ECO:0000269|PubMed:11439000}.		cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		AAGCAGTCCACAGTGTTGGGA	0.522									Keratitis, Ichthyosis and Deafness syndrome																														uc001umy.2		NA																	0					0	GRCh37	CD051751	GJB2	D		c.(532-534)GTG>ATG		gap junction protein beta 2							63.0	57.0	59.0					13																	20763189		2203	4300	6503	SO:0001583	missense	2706	Keratitis_Ichthyosis_and_Deafness_syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763189C>T	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"""Ion channels / Gap junction proteins (connexins)"""	4284	protein-coding gene	gene with protein product	"""connexin 26"""	121011	"""gap junction protein, beta 2, 26kD (connexin 26)"", ""gap junction protein, beta 2, 26kDa (connexin 26)"""	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.532G>A	13.37:g.20763189C>T	ENSP00000372295:p.Val178Met						p.V178M	NM_004004	NP_003995	P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	2	747	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	178		V -> A (in DFNB1A).	Extracellular (Potential).		Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Missense_Mutation	SNP	ENST00000382844.1	37	c.532G>A	CCDS9290.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296399	0.81025	.	.	ENSG00000165474	ENST00000382848;ENST00000382844	D;D	0.97256	-4.31;-4.31	5.65	5.65	0.86999	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.000000	0.64402	D	0.000006	D	0.99121	0.9697	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99023	1.0818	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	178	P29033	CXB2_HUMAN	M	178	ENSP00000372299:V178M;ENSP00000372295:V178M	ENSP00000372295:V178M	V	-	1	0	GJB2	19661189	1.000000	0.71417	0.963000	0.40424	0.516000	0.34256	7.729000	0.84864	2.824000	0.97209	0.655000	0.94253	GTG		0.522	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			7	39	0	0	0	0.00308	0	7	39				
TNFRSF19	55504	broad.mit.edu	37	13	24200868	24200868	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:24200868G>T	ENST00000382258.4	+	5	586	c.382G>T	c.(382-384)Gtc>Ttc	p.V128F	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.V128F|TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.V128F	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	128					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GACGAAACTTGTCGGCTTTCA	0.463																																							uc001uov.1		NA																	0				kidney(1)|skin(1)	2						c.(382-384)GTC>TTC		tumor necrosis factor receptor superfamily,							115.0	103.0	107.0					13																	24200868		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24200868G>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.382G>T	13.37:g.24200868G>T	ENSP00000371693:p.Val128Phe					TNFRSF19_uc001uot.2_Missense_Mutation_p.V128F|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.V128F	p.V128F	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	5	446	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	128			Extracellular (Potential).|TNFR-Cys 3.		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.382G>T	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452820	0.26074	.	.	ENSG00000127863	ENST00000248484;ENST00000382258;ENST00000382263	T;T;T	0.25414	1.8;1.8;1.8	5.52	5.52	0.82312	.	0.203649	0.51477	D	0.000097	T	0.43787	0.1263	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.63597	0.916;0.916	T	0.14337	-1.0476	10	0.09843	T	0.71	-18.9366	19.0446	0.93015	0.0:0.0:1.0:0.0	.	128;128	Q9NS68;Q9NS68-2	TNR19_HUMAN;.	F	128	ENSP00000248484:V128F;ENSP00000371693:V128F;ENSP00000371698:V128F	ENSP00000248484:V128F	V	+	1	0	TNFRSF19	23098868	1.000000	0.71417	0.932000	0.37286	0.435000	0.31806	6.089000	0.71384	2.608000	0.88229	0.585000	0.79938	GTC		0.463	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		6	28	1	0	1.12685e-05	0.004482	1.33642e-05	6	28				
NBEA	26960	broad.mit.edu	37	13	35619507	35619507	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:35619507C>T	ENST00000400445.3	+	4	1226	c.692C>T	c.(691-693)aCt>aTt	p.T231I	NBEA_ENST00000379939.2_Missense_Mutation_p.T231I|NBEA_ENST00000310336.4_Missense_Mutation_p.T231I|NBEA_ENST00000540320.1_Missense_Mutation_p.T231I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	231					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGTCCTGATACTTTTTTCAAT	0.338																																							uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(691-693)ACT>ATT		neurobeachin							93.0	84.0	87.0					13																	35619507		1836	4092	5928	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35619507C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.692C>T	13.37:g.35619507C>T	ENSP00000383295:p.Thr231Ile						p.T231I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	5	898	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	231					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.692C>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433569	0.62955	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.67	5.67	0.87782	.	0.115488	0.64402	D	0.000015	T	0.56558	0.1993	N	0.22421	0.69	0.80722	D	1	P	0.38711	0.643	B	0.43123	0.409	T	0.52117	-0.8618	10	0.27785	T	0.31	.	19.751	0.96268	0.0:1.0:0.0:0.0	.	231	Q5T321	.	I	231	ENSP00000440951:T231I;ENSP00000383295:T231I;ENSP00000369271:T231I;ENSP00000308534:T231I	ENSP00000308534:T231I	T	+	2	0	NBEA	34517507	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.727000	0.61993	2.672000	0.90937	0.561000	0.74099	ACT		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		2	14	0	0	0	0.004672	0	2	14				
DCLK1	9201	broad.mit.edu	37	13	36700173	36700173	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:36700173C>T	ENST00000360631.3	-	2	313	c.102G>A	c.(100-102)acG>acA	p.T34T	DCLK1_ENST00000255448.4_Silent_p.T34T|DCLK1_ENST00000379892.4_Silent_p.T34T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	34					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGGCGCTGTGCGTCGGGCTCG	0.612																																							uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(100-102)ACG>ACA		doublecortin-like kinase 1							69.0	66.0	67.0					13																	36700173		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700173C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.102G>A	13.37:g.36700173C>T							p.T34T	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	335	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	34					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.102G>A																																																																																					0.612	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		5	89	0	0	0	0.001168	0	5	89				
ENOX1	55068	broad.mit.edu	37	13	43935525	43935525	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:43935525T>C	ENST00000261488.6	-	6	849	c.272A>G	c.(271-273)aAc>aGc	p.N91S	ENOX1_ENST00000482207.1_5'Flank|ENOX1_ENST00000540032.1_5'Flank|ENOX1_ENST00000412891.1_Missense_Mutation_p.N91S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	91	Pro-rich.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TATCATTGGGTTAATGGGGGT	0.443																																							uc001uza.3		NA																	0				pancreas(1)|skin(1)	2						c.(271-273)AAC>AGC		ecto-NOX disulfide-thiol exchanger 1							93.0	100.0	98.0					13																	43935525		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43935525T>C	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.272A>G	13.37:g.43935525T>C	ENSP00000261488:p.Asn91Ser					ENOX1_uc001uzb.3_Missense_Mutation_p.N91S|ENOX1_uc001uzc.3_Missense_Mutation_p.N91S|ENOX1_uc010tfm.1_5'Flank	p.N91S	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	6	572	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	91			Pro-rich.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.272A>G	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084066	0.55861	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.46819	0.86;0.86	5.52	5.52	0.82312	.	0.050811	0.85682	D	0.000000	T	0.52451	0.1735	N	0.21448	0.665	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.46470	-0.9189	10	0.19590	T	0.45	-7.6724	15.6384	0.76973	0.0:0.0:0.0:1.0	.	91	Q8TC92	ENOX1_HUMAN	S	91	ENSP00000261488:N91S;ENSP00000415054:N91S	ENSP00000261488:N91S	N	-	2	0	ENOX1	42833525	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.481000	0.81124	2.105000	0.64084	0.533000	0.62120	AAC		0.443	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		19	61	0	0	0	0.008871	0	19	61				
RCBTB1	55213	broad.mit.edu	37	13	50123718	50123718	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:50123718C>A	ENST00000378302.2	-	9	1181	c.921G>T	c.(919-921)gtG>gtT	p.V307V	RCBTB1_ENST00000546015.1_Silent_p.V307V|RCBTB1_ENST00000258646.3_Silent_p.V307V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	307					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CCCACATGTACACGTGCCCAC	0.577																																							uc001vde.1		NA																	0				ovary(1)	1						c.(919-921)GTG>GTT		regulator of chromosome condensation (RCC1) and							87.0	70.0	76.0					13																	50123718		2203	4300	6503	SO:0001819	synonymous_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50123718C>A	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.921G>T	13.37:g.50123718C>A							p.V307V	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	9	1182	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	307			RCC1 6.		Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	c.921G>T	CCDS9418.1																																																																																				0.577	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		10	61	1	0	4.93089e-13	0.00245	7.50038e-13	10	61				
THSD1	55901	broad.mit.edu	37	13	52960220	52960220	+	Missense_Mutation	SNP	G	G	T	rs138873579	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:52960220G>T	ENST00000258613.4	-	4	1301	c.1123C>A	c.(1123-1125)Cct>Act	p.P375T	THSD1_ENST00000544466.1_5'UTR|THSD1_ENST00000349258.4_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	375	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGGCAGACAGGACTGGAGGGG	0.582																																							uc001vgo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1123-1125)CCT>ACT		thrombospondin type I domain-containing 1							160.0	143.0	148.0					13																	52960220		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52960220G>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1123C>A	13.37:g.52960220G>T	ENSP00000258613:p.Pro375Thr					THSD1_uc001vgp.2_Intron|THSD1_uc010tgz.1_5'UTR|THSD1_uc010aea.2_Intron	p.P375T	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	1668	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	375			Extracellular (Potential).|TSP type-1.		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1123C>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035360	0.54896	.	.	ENSG00000136114	ENST00000258613;ENST00000378095	T	0.53206	0.63	5.03	5.03	0.67393	.	0.241459	0.36268	N	0.002687	T	0.54759	0.1878	N	0.19112	0.55	0.80722	D	1	D	0.61697	0.99	D	0.75020	0.985	T	0.58482	-0.7629	10	0.48119	T	0.1	-14.0522	17.3407	0.87294	0.0:0.0:1.0:0.0	.	375	Q9NS62	THSD1_HUMAN	T	375	ENSP00000258613:P375T	ENSP00000258613:P375T	P	-	1	0	THSD1	51858221	0.994000	0.37717	0.997000	0.53966	0.447000	0.32167	2.294000	0.43567	2.331000	0.79229	0.563000	0.77884	CCT		0.582	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			17	70	1	0	2.35188e-11	0.006122	3.42054e-11	17	70				
OLFM4	10562	broad.mit.edu	37	13	53616110	53616110	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:53616110T>A	ENST00000219022.2	+	3	501	c.423T>A	c.(421-423)atT>atA	p.I141I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	141					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CTGTCCGAATTGACATCATGG	0.393																																							uc001vhl.2		NA																	0				skin(1)	1						c.(421-423)ATT>ATA		olfactomedin 4 precursor							124.0	115.0	118.0					13																	53616110		2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53616110T>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.423T>A	13.37:g.53616110T>A						OLFM4_uc001vhk.1_Silent_p.I141I	p.I141I	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	3	423	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	141					O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.423T>A	CCDS9440.1																																																																																				0.393	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		10	68	0	0	0	0.008291	0	10	68				
OLFM4	10562	broad.mit.edu	37	13	53624337	53624337	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:53624337C>A	ENST00000219022.2	+	5	1042	c.964C>A	c.(964-966)Cgg>Agg	p.R322R		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	322	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCGAGAGTTGCGGATCACCTA	0.438																																							uc001vhl.2		NA																	0				skin(1)	1						c.(964-966)CGG>AGG		olfactomedin 4 precursor							136.0	110.0	119.0					13																	53624337		2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53624337C>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.964C>A	13.37:g.53624337C>A						OLFM4_uc001vhk.1_Intron	p.R322R	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	964	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	322			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.964C>A	CCDS9440.1																																																																																				0.438	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		10	69	1	0	0.000442599	0.006214	0.000490528	10	69				
KLHL1	57626	broad.mit.edu	37	13	70535441	70535441	+	Splice_Site	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:70535441T>G	ENST00000377844.4	-	3	1575	c.816A>C	c.(814-816)acA>acC	p.T272T	KLHL1_ENST00000545028.1_Splice_Site_p.T79T	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	272	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGCCATACCTGTATATGCAA	0.343																																							uc001vip.2		NA																	0					0						c.(814-816)ACA>ACC		kelch-like 1 protein							119.0	109.0	112.0					13																	70535441		2203	4300	6503	SO:0001630	splice_region_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535441T>G	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.817+1A>C	13.37:g.70535441T>G						KLHL1_uc010thm.1_Silent_p.T211T	p.T272T	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1610	-		Breast(118;0.000162)	272			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.816A>C	CCDS9445.1																																																																																				0.343	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	Silent	9	49	0	0	0	0.00245	0	9	49				
ABCC4	10257	broad.mit.edu	37	13	95705394	95705394	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:95705394G>A	ENST00000376887.4	-	27	3525	c.3411C>T	c.(3409-3411)ccC>ccT	p.P1137P	ABCC4_ENST00000412704.1_Silent_p.P1090P	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1137	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCTCATTAAAGGGATCCAGGT	0.378																																							uc001vmd.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(3409-3411)CCC>CCT		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						153.0	136.0	142.0					13																	95705394		2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95705394G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3411C>T	13.37:g.95705394G>A						ABCC4_uc010afj.2_Silent_p.P21P|ABCC4_uc010afk.2_Silent_p.P1090P	p.P1137P	NM_005845	NP_005836	O15439	MRP4_HUMAN			27	3530	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1137			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.3411C>T	CCDS9474.1																																																																																				0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		9	57	0	0	0	0.013537	0	9	57				
ABCC4	10257	broad.mit.edu	37	13	95840711	95840711	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:95840711C>A	ENST00000376887.4	-	10	1463	c.1349G>T	c.(1348-1350)gGg>gTg	p.G450V	ABCC4_ENST00000412704.1_Missense_Mutation_p.G450V|ABCC4_ENST00000431522.1_Missense_Mutation_p.G450V|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.G375V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	450	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACTCACCTTCCCTGCTCCCAC	0.473																																							uc001vmd.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(1348-1350)GGG>GTG		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						121.0	110.0	114.0					13																	95840711		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95840711C>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1349G>T	13.37:g.95840711C>A	ENSP00000366084:p.Gly450Val					ABCC4_uc010afk.2_Missense_Mutation_p.G450V|ABCC4_uc001vme.2_Missense_Mutation_p.G450V|ABCC4_uc010tih.1_Missense_Mutation_p.G375V|ABCC4_uc001vmf.2_Missense_Mutation_p.G407V|ABCC4_uc010afl.1_Missense_Mutation_p.G407V|ABCC4_uc010afm.1_Missense_Mutation_p.G463V	p.G450V	NM_005845	NP_005836	O15439	MRP4_HUMAN			10	1468	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		450			ATP 1 (Potential).|ABC transporter 1.|Helical; (Potential).		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1349G>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315099	0.81358	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.99863	-7.27;-7.27;-7.27;-7.27	5.22	5.22	0.72569	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	H	0.99487	4.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.83275	0.996;0.996;0.99;0.996;0.984	D	0.95831	0.8858	10	0.87932	D	0	.	18.7871	0.91960	0.0:1.0:0.0:0.0	.	375;450;450;450;450	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	V	450;450;375;450	ENSP00000388657:G450V;ENSP00000366084:G450V;ENSP00000442024:G375V;ENSP00000398562:G450V	ENSP00000366084:G450V	G	-	2	0	ABCC4	94638712	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	6.379000	0.73154	2.447000	0.82792	0.637000	0.83480	GGG		0.473	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		16	97	1	0	1.28384e-07	0.012319	1.62737e-07	16	97				
NALCN	259232	broad.mit.edu	37	13	101759851	101759851	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:101759851C>A	ENST00000251127.6	-	22	2647	c.2566G>T	c.(2566-2568)Gca>Tca	p.A856S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	856					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGAAGCGTGCTCGGACCACC	0.498																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2566-2568)GCA>TCA		voltage gated channel like 1							123.0	107.0	112.0					13																	101759851		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101759851C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2566G>T	13.37:g.101759851C>A	ENSP00000251127:p.Ala856Ser						p.A856S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			22	2755	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		856			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2566G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327419	0.81690	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	L	0.49126	1.545	0.80722	D	1	P	0.46220	0.874	B	0.42692	0.395	D	0.95296	0.8399	10	0.22706	T	0.39	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	856	Q8IZF0	NALCN_HUMAN	S	856	ENSP00000251127:A856S	ENSP00000251127:A856S	A	-	1	0	NALCN	100557852	1.000000	0.71417	0.698000	0.30274	0.957000	0.61999	7.731000	0.84895	2.630000	0.89119	0.650000	0.86243	GCA		0.498	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		14	67	1	0	1.99824e-07	0.00499	2.52521e-07	14	67				
METTL21C	196541	broad.mit.edu	37	13	103346735	103346735	+	Silent	SNP	G	G	T	rs144831458	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr13:103346735G>T	ENST00000267273.6	-	1	119	c.114C>A	c.(112-114)acC>acA	p.T38T		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	38					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GGACTCCCCCGGTGCTGTCTT	0.557																																							uc001vpj.2		NA																	0					0						c.(112-114)ACC>ACA		hypothetical protein LOC196541							64.0	62.0	62.0					13																	103346735		2203	4300	6503	SO:0001819	synonymous_variant	196541						methyltransferase activity	g.chr13:103346735G>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.114C>A	13.37:g.103346735G>T						C13orf39_uc001vpk.2_Silent_p.T38T	p.T38T	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN			1	120	-			38						Silent	SNP	ENST00000267273.6	37	c.114C>A	CCDS32003.1																																																																																				0.557	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		9	43	1	0	7.48243e-07	0.006214	9.27195e-07	9	43				
OR4K17	390436	broad.mit.edu	37	14	20586231	20586231	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:20586231C>T	ENST00000315543.4	+	1	666	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCTGTATAGACATATATTTTG	0.408																																							uc001vwo.1		NA																	0				skin(3)	3						c.(664-666)GAC>GAT		olfactory receptor, family 4, subfamily K,							193.0	178.0	183.0					14																	20586231		2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586231C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.666C>T	14.37:g.20586231C>T							p.D222D	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	666	+	all_cancers(95;0.00108)		194			Extracellular (Potential).		Q6IF12	Silent	SNP	ENST00000315543.4	37	c.666C>T	CCDS32030.1																																																																																				0.408	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			14	102	0	0	0	0.00245	0	14	102				
ARHGEF40	55701	broad.mit.edu	37	14	21550064	21550064	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:21550064G>A	ENST00000298694.4	+	14	3164	c.3037G>A	c.(3037-3039)Gga>Aga	p.G1013R	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.G1013R			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1013						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGCCCCATGTGGAGAGGACTA	0.687																																							uc001vzp.2		NA																	0					0						c.(3037-3039)GGA>AGA		hypothetical protein LOC55701							20.0	20.0	20.0					14																	21550064		2202	4295	6497	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21550064G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3037G>A	14.37:g.21550064G>A	ENSP00000298694:p.Gly1013Arg					FLJ10357_uc001vzo.1_Missense_Mutation_p.G92R|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.G299R	p.G1013R	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	14	3066	+	all_cancers(95;0.00185)		1013					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.3037G>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476506	0.44044	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02498	4.32;4.27	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000062	T	0.02083	0.0065	N	0.08118	0	0.31517	N	0.662816	P;B;P	0.37101	0.582;0.255;0.582	B;B;B	0.37692	0.256;0.15;0.188	T	0.50550	-0.8815	10	0.17369	T	0.5	.	14.2767	0.66184	0.0:0.0:1.0:0.0	.	1013;1013;299	Q8TER5-4;Q8TER5;Q8TER5-2	.;ARH40_HUMAN;.	R	1013	ENSP00000298694:G1013R;ENSP00000298693:G1013R	ENSP00000298693:G1013R	G	+	1	0	ARHGEF40	20619904	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.035000	0.30216	2.735000	0.93741	0.655000	0.94253	GGA		0.687	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			3	13	0	0	0	0.004672	0	3	13				
SUPT16H	11198	broad.mit.edu	37	14	21826513	21826513	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:21826513T>C	ENST00000216297.2	-	20	2713	c.2375A>G	c.(2374-2376)aAg>aGg	p.K792R		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	792					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAGTTCCTCCTTAGTTAGAGC	0.348																																							uc001wao.2		NA																	0					0						c.(2374-2376)AAG>AGG		chromatin-specific transcription elongation							73.0	66.0	68.0					14																	21826513		2202	4300	6502	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21826513T>C	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2375A>G	14.37:g.21826513T>C	ENSP00000216297:p.Lys792Arg					SUPT16H_uc001wan.2_5'UTR	p.K792R	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	20	2714	-	all_cancers(95;0.00115)		792					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2375A>G	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770574	0.49680	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	L	0.28344	0.845	0.80722	D	1	B	0.12013	0.005	B	0.17098	0.017	T	0.42396	-0.9454	9	0.23302	T	0.38	-18.638	14.9874	0.71359	0.0:0.0:0.0:1.0	.	792	Q9Y5B9	SP16H_HUMAN	R	792	.	ENSP00000216297:K792R	K	-	2	0	SUPT16H	20896353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.163000	0.77524	2.190000	0.69967	0.533000	0.62120	AAG		0.348	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	40	0	0	0	0.000602	0	4	40				
LRRC16B	90668	broad.mit.edu	37	14	24527173	24527173	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:24527173G>T	ENST00000342740.5	+	16	1376	c.1222G>T	c.(1222-1224)Ggt>Tgt	p.G408C	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	408						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCACAGGAAGGGTCGAGAGGC	0.652											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001wlj.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1222-1224)GGT>TGT		leucine rich repeat containing 16B							55.0	58.0	57.0					14																	24527173		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24527173G>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1222G>T	14.37:g.24527173G>T	ENSP00000340467:p.Gly408Cys		OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772		p.G408C	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	16	1379	+			408			LRR 6.		Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.1222G>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781262	0.16120	.	.	ENSG00000186648	ENST00000342740	T	0.58506	0.33	5.12	2.26	0.28386	.	0.486738	0.20549	N	0.090157	T	0.42245	0.1194	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24440	-1.0160	10	0.62326	D	0.03	-8.3281	4.8456	0.13512	0.1817:0.0:0.6496:0.1688	.	408	Q8ND23	LR16B_HUMAN	C	408	ENSP00000340467:G408C	ENSP00000340467:G408C	G	+	1	0	LRRC16B	23597013	1.000000	0.71417	0.999000	0.59377	0.171000	0.22731	2.042000	0.41222	0.168000	0.19655	-1.516000	0.00938	GGT		0.652	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		7	109	1	0	1.12685e-05	0.004482	1.33642e-05	7	109				
STRN3	29966	broad.mit.edu	37	14	31376229	31376229	+	Missense_Mutation	SNP	G	G	A	rs199614478		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:31376229G>A	ENST00000357479.5	-	14	1938	c.1742C>T	c.(1741-1743)aCt>aTt	p.T581I	STRN3_ENST00000355683.5_Missense_Mutation_p.T497I	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	581					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|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)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCAACTAAAGTGCCAGCTAG	0.343																																							uc001wqu.2		NA																	0					0						c.(1741-1743)ACT>ATT		nuclear autoantigen isoform 1							89.0	85.0	86.0					14																	31376229		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31376229G>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1742C>T	14.37:g.31376229G>A	ENSP00000350071:p.Thr581Ile					STRN3_uc001wqv.2_Missense_Mutation_p.T497I|STRN3_uc010tpj.1_RNA	p.T581I	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	14	1958	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		581					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.1742C>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281495	0.59758	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.61158	0.13;0.13	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.095408	0.64402	D	0.000001	T	0.65729	0.2719	L	0.52759	1.655	0.80722	D	1	B;D	0.53462	0.036;0.96	B;P	0.52386	0.059;0.697	T	0.64643	-0.6359	10	0.45353	T	0.12	-0.7025	19.579	0.95458	0.0:0.0:1.0:0.0	.	497;581	Q13033-2;Q13033	.;STRN3_HUMAN	I	497;581	ENSP00000347909:T497I;ENSP00000350071:T581I	ENSP00000347909:T497I	T	-	2	0	STRN3	30445980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.294000	0.96088	2.626000	0.88956	0.563000	0.77884	ACT		0.343	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		14	45	0	0	0	0.004007	0	14	45				
CTAGE5	4253	broad.mit.edu	37	14	39764137	39764137	+	Missense_Mutation	SNP	G	G	T	rs142653668		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:39764137G>T	ENST00000280083.3	+	8	890	c.576G>T	c.(574-576)atG>atT	p.M192I	CTAGE5_ENST00000556148.1_Missense_Mutation_p.M117I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.M163I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.M197I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.M163I|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.M727I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.M180I|CTAGE5_ENST00000348007.3_Missense_Mutation_p.M192I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.M112I|CTAGE5_ENST00000341502.5_Missense_Mutation_p.M192I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.M163I			O15320	CTGE5_HUMAN	CTAGE family, member 5	192					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGGCCAAAATGACCTTCAAGA	0.308																																							uc001wvg.3		NA																	0					0						c.(574-576)ATG>ATT		CTAGE family, member 5 isoform 1							92.0	96.0	94.0					14																	39764137		2203	4300	6503	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39764137G>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.576G>T	14.37:g.39764137G>T	ENSP00000280083:p.Met192Ile					CTAGE5_uc010tqe.1_Missense_Mutation_p.M154I|CTAGE5_uc001wuz.3_Missense_Mutation_p.M180I|CTAGE5_uc001wuy.3_Missense_Mutation_p.M112I|CTAGE5_uc001wvb.3_Missense_Mutation_p.M163I|CTAGE5_uc001wvc.3_Missense_Mutation_p.M137I|CTAGE5_uc001wva.3_Missense_Mutation_p.M163I|CTAGE5_uc001wve.1_Missense_Mutation_p.M168I|CTAGE5_uc001wvh.3_Missense_Mutation_p.M192I|CTAGE5_uc001wvf.3_Missense_Mutation_p.M117I|CTAGE5_uc001wvi.3_Missense_Mutation_p.M197I|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.M163I	p.M192I	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	8	912	+	Hepatocellular(127;0.213)		192			Potential.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.576G>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	3.297	-0.143764	0.06627	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;D;T;T	0.82433	2.34;2.34;2.34;2.34;2.34;-0.49;2.34;-1.61;-1.09;2.34	5.69	0.636	0.17729	.	0.300918	0.18728	N	0.132807	T	0.60379	0.2264	N	0.08118	0	0.21553	N	0.999646	B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.12837	0.008;0.008;0.008;0.008;0.008;0.008	T	0.44065	-0.9352	9	.	.	.	.	5.4199	0.16394	0.4621:0.1537:0.3842:0.0	.	154;197;192;192;163;180	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	I	727;180;112;154;163;192;197;192;117;192;163	ENSP00000452252:M727I;ENSP00000343897:M180I;ENSP00000450869:M112I;ENSP00000379468:M163I;ENSP00000339286:M192I;ENSP00000379462:M197I;ENSP00000280083:M192I;ENSP00000452562:M117I;ENSP00000343912:M192I;ENSP00000450449:M163I	.	M	+	3	0	CTAGE5;RP11-407N17.3	38833888	0.982000	0.34865	0.991000	0.47740	0.046000	0.14306	0.031000	0.13710	-0.129000	0.11620	-0.484000	0.04775	ATG		0.308	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		12	56	1	0	9.31168e-06	0.001855	1.1107e-05	12	56				
LRFN5	145581	broad.mit.edu	37	14	42373362	42373362	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:42373362G>T	ENST00000298119.4	+	6	3333	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	LRFN5_ENST00000554171.1_3'UTR|LRFN5_ENST00000554120.1_Splice_Site_p.G463C	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	715						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		tcatttcAGAGGCTGGAGTTA	0.313										HNSCC(30;0.082)																													uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(2143-2145)AGG>ATG		leucine rich repeat and fibronectin type III							52.0	53.0	52.0					14																	42373362		2202	4300	6502	SO:0001630	splice_region_variant	145581					integral to membrane		g.chr14:42373362G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2143-1G>T	14.37:g.42373362G>T		HNSCC(30;0.082)				LRFN5_uc010ana.2_3'UTR	p.R715M	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	6	3342	+			715			Cytoplasmic (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.2144G>T	CCDS9678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.474464|2.474464	0.43942|0.43942	.|.	.|.	ENSG00000165379|ENSG00000165379	ENST00000554120|ENST00000298119	T|T	0.51817|0.47869	0.69|0.83	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.103799	.|0.42682	.|D	.|0.000674	T|T	0.32346|0.32346	0.0826|0.0826	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P	.|0.44734	.|0.842	.|B	.|0.41571	.|0.36	T|T	0.35051|0.35051	-0.9804|-0.9804	6|10	.|0.87932	.|D	.|0	.|.	15.4883|15.4883	0.75584|0.75584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|715	.|Q96NI6	.|LRFN5_HUMAN	C|M	463|715	ENSP00000451897:G463C|ENSP00000298119:R715M	.|ENSP00000298119:R715M	G|R	+|+	1|2	0|0	LRFN5|LRFN5	41443112|41443112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.694000|0.694000	0.40290|0.40290	1.949000|1.949000	0.40313|0.40313	2.804000|2.804000	0.96469|0.96469	0.462000|0.462000	0.41574|0.41574	GGC|AGG		0.313	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	Missense_Mutation	8	18	1	0	3.09899e-07	0.004482	3.88075e-07	8	18				
LRR1	122769	broad.mit.edu	37	14	50081051	50081051	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:50081051G>C	ENST00000298288.6	+	4	1406	c.1082G>C	c.(1081-1083)aGa>aCa	p.R361T	LRR1_ENST00000318317.4_Missense_Mutation_p.K120N	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	361					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTTTGTGGAAGATTCTGTCTG	0.383																																							uc001wwn.2		NA																	0					0						c.(1081-1083)AGA>ACA		peptidylprolyl isomerase (cyclophilin)-like 5							130.0	121.0	124.0					14																	50081051		2203	4300	6503	SO:0001583	missense	122769							g.chr14:50081051G>C	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.1082G>C	14.37:g.50081051G>C	ENSP00000298288:p.Arg361Thr					SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Missense_Mutation_p.K120N|PPIL5_uc010ank.2_Missense_Mutation_p.R302T|PPIL5_uc001wwp.2_RNA	p.R361T	NM_152329	NP_689542	Q96L50	LLR1_HUMAN			4	1406	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		361					A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	37	c.1082G>C	CCDS9686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.718|6.718	0.501263|0.501263	0.12822|0.12822	.|.	.|.	ENSG00000165501|ENSG00000165501	ENST00000318317|ENST00000298288	.|T	.|0.41065	.|1.01	5.55|5.55	2.69|2.69	0.31865|0.31865	.|.	.|0.524402	.|0.21960	.|N	.|0.066609	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.34521|0.34521	1.04|1.04	0.20563|0.20563	N|N	0.999881|0.999881	P|B	0.41848|0.20671	0.763|0.047	B|B	0.41619|0.19148	0.361|0.024	T|T	0.14117|0.14117	-1.0484|-1.0484	8|10	0.87932|0.22706	D|T	0|0.39	-4.4981|-4.4981	7.0817|7.0817	0.25235|0.25235	0.2016:0.0:0.6762:0.1222|0.2016:0.0:0.6762:0.1222	.|.	120|361	Q96L50-2|Q96L50	.|LLR1_HUMAN	N|T	120|361	.|ENSP00000298288:R361T	ENSP00000315628:K120N|ENSP00000298288:R361T	K|R	+|+	3|2	2|0	LRR1|LRR1	49150801|49150801	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.664000|0.664000	0.39144|0.39144	1.132000|1.132000	0.31418|0.31418	0.818000|0.818000	0.34468|0.34468	-0.131000|-0.131000	0.14894|0.14894	AAG|AGA		0.383	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		3	48	0	0	0	0.009096	0	3	48				
NID2	22795	broad.mit.edu	37	14	52508872	52508872	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:52508872C>A	ENST00000216286.5	-	7	1775	c.1776G>T	c.(1774-1776)tgG>tgT	p.W592C	NID2_ENST00000541773.1_Missense_Mutation_p.W539C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	592	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGCAAAGAGCCAGCCAAACA	0.587																																							uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1774-1776)TGG>TGT		nidogen 2 precursor							97.0	107.0	104.0					14																	52508872		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52508872C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1776G>T	14.37:g.52508872C>A	ENSP00000216286:p.Trp592Cys					NID2_uc010tqs.1_Missense_Mutation_p.W592C|NID2_uc010tqt.1_Missense_Mutation_p.W592C|NID2_uc001wzp.2_Missense_Mutation_p.W592C	p.W592C	NM_007361	NP_031387	Q14112	NID2_HUMAN			7	2010	-	Breast(41;0.0639)|all_epithelial(31;0.123)		592			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1776G>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692660	0.88735	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.70399	-0.48;-0.48	5.93	5.93	0.95920	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.000000	0.85682	D	0.000000	D	0.87605	0.6219	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88745	0.3246	10	0.87932	D	0	.	19.949	0.97192	0.0:1.0:0.0:0.0	.	186;539;594;592	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	C	592;186;539;594	ENSP00000216286:W592C;ENSP00000443730:W539C	ENSP00000216286:W592C	W	-	3	0	NID2	51578622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.361000	0.79497	2.826000	0.97356	0.655000	0.94253	TGG		0.587	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			18	103	1	0	1.33834e-09	0.007413	1.82181e-09	18	103				
KTN1	3895	broad.mit.edu	37	14	56139388	56139388	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:56139388G>T	ENST00000395314.3	+	38	3640	c.3572G>T	c.(3571-3573)cGa>cTa	p.R1191L	KTN1_ENST00000395311.1_Missense_Mutation_p.R1168L|KTN1_ENST00000395308.1_Missense_Mutation_p.R1168L|KTN1_ENST00000413890.2_Missense_Mutation_p.R1168L|KTN1_ENST00000416613.1_Missense_Mutation_p.R1191L|KTN1_ENST00000555573.1_Missense_Mutation_p.R196L|KTN1_ENST00000395309.3_Missense_Mutation_p.R1191L|KTN1_ENST00000554507.1_Missense_Mutation_p.R457L|KTN1_ENST00000438792.2_Missense_Mutation_p.R1162L	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1191					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAGCTAGAGCGATTAAGAAGC	0.333			T	RET	papillary thryoid																																		uc001xcb.2		NA		Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(3571-3573)CGA>CTA		kinectin 1 isoform a							124.0	120.0	121.0					14																	56139388		2202	4300	6502	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56139388G>T		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3572G>T	14.37:g.56139388G>T	ENSP00000378725:p.Arg1191Leu					KTN1_uc001xce.2_Missense_Mutation_p.R1162L|KTN1_uc001xcc.2_Missense_Mutation_p.R1191L|KTN1_uc001xcd.2_Missense_Mutation_p.R1168L|KTN1_uc010trb.1_Missense_Mutation_p.R1191L|KTN1_uc001xcf.1_Missense_Mutation_p.R1168L|KTN1_uc010aoq.2_Missense_Mutation_p.R457L|KTN1_uc010trc.1_Missense_Mutation_p.R196L|KTN1_uc001xcg.2_Missense_Mutation_p.R152L	p.R1191L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			39	3874	+			1191			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.3572G>T	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290019	0.59976	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000553624;ENST00000555573	T;T;T;T;T;T;T;T;T;T	0.80123	1.5;1.5;1.5;1.5;1.5;1.5;1.5;-1.34;1.5;-1.34	5.73	0.848	0.18966	.	0.312185	0.22190	N	0.063399	T	0.80428	0.4621	M	0.64997	1.995	0.34387	D	0.693703	P;B;P;B;P;P	0.41910	0.764;0.296;0.764;0.255;0.632;0.472	P;B;P;B;P;B	0.47744	0.504;0.171;0.504;0.087;0.556;0.303	T	0.82321	-0.0515	10	0.66056	D	0.02	0.0076	9.5299	0.39187	0.4016:0.0:0.5983:0.0	.	196;1191;457;1162;1168;1191	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;.;KTN1_HUMAN	L	1168;1191;1162;1191;1168;1168;1191;457;152;196	ENSP00000394992:R1168L;ENSP00000378720:R1191L;ENSP00000391964:R1162L;ENSP00000378725:R1191L;ENSP00000378719:R1168L;ENSP00000378722:R1168L;ENSP00000388807:R1191L;ENSP00000452073:R457L;ENSP00000452445:R152L;ENSP00000451698:R196L	ENSP00000334083:R14L	R	+	2	0	KTN1	55209141	0.811000	0.29063	0.976000	0.42696	0.977000	0.68977	0.217000	0.17603	-0.038000	0.13624	-0.768000	0.03414	CGA		0.333	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			11	21	1	0	1.3612e-06	0.003163	1.67424e-06	11	21				
RTN1	6252	broad.mit.edu	37	14	60212731	60212731	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:60212731C>A	ENST00000267484.5	-	2	1045	c.710G>T	c.(709-711)cGt>cTt	p.R237L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	237					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTCAGGTTCACGGACTCCTTC	0.423																																							uc001xen.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(709-711)CGT>CTT		reticulon 1 isoform A							202.0	200.0	201.0					14																	60212731		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212731C>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.710G>T	14.37:g.60212731C>A	ENSP00000267484:p.Arg237Leu						p.R237L	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	919	-			237					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.710G>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	5.987	0.366041	0.11352	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.23348	1.91	4.63	0.317	0.15861	.	0.407546	0.19616	N	0.110010	T	0.15912	0.0383	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.15378	-1.0439	10	0.38643	T	0.18	.	5.0996	0.14753	0.1137:0.2996:0.4947:0.0919	.	237	Q16799	RTN1_HUMAN	L	237;163	ENSP00000267484:R237L	ENSP00000267484:R237L	R	-	2	0	RTN1	59282484	0.000000	0.05858	0.001000	0.08648	0.160000	0.22226	-0.059000	0.11731	0.171000	0.19730	0.557000	0.71058	CGT		0.423	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			24	114	1	0	5.45024e-15	0.00333	8.70568e-15	24	114				
KCNH5	27133	broad.mit.edu	37	14	63174819	63174819	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:63174819G>T	ENST00000322893.7	-	11	2642	c.2374C>A	c.(2374-2376)Caa>Aaa	p.Q792K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	792					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGACATTTTTGGTCAGCACCG	0.463																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2374-2376)CAA>AAA		potassium voltage-gated channel, subfamily H,							106.0	106.0	106.0					14																	63174819		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174819G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2374C>A	14.37:g.63174819G>T	ENSP00000321427:p.Gln792Lys					KCNH5_uc001xfy.2_3'UTR	p.Q792K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2425	-			792			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2374C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	7.085	0.571047	0.13623	.	.	ENSG00000140015	ENST00000322893	D	0.98747	-5.11	5.83	5.83	0.93111	.	0.632281	0.16707	N	0.202850	D	0.94192	0.8136	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	D	0.90563	0.4517	10	0.06099	T	0.92	.	14.9189	0.70818	0.0:0.0:0.8569:0.1431	.	792	Q8NCM2	KCNH5_HUMAN	K	792	ENSP00000321427:Q792K	ENSP00000321427:Q792K	Q	-	1	0	KCNH5	62244572	0.987000	0.35691	0.776000	0.31678	0.750000	0.42670	4.847000	0.62867	2.763000	0.94921	0.563000	0.77884	CAA		0.463	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		4	47	1	0	1.23904e-05	0.000602	1.45697e-05	4	47				
ZFYVE26	23503	broad.mit.edu	37	14	68251821	68251821	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:68251821T>C	ENST00000347230.4	-	19	3616	c.3478A>G	c.(3478-3480)Agc>Ggc	p.S1160G	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1160G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1160					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAAGGGTGCTGCAGTAACTG	0.527																																							uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(3478-3480)AGC>GGC		zinc finger, FYVE domain containing 26							161.0	167.0	165.0					14																	68251821		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68251821T>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3478A>G	14.37:g.68251821T>C	ENSP00000251119:p.Ser1160Gly					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S1160G	p.S1160G	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	19	3617	-			1160					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.3478A>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503374	0.64298	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28454	1.76;1.61	5.54	5.54	0.83059	.	0.141811	0.64402	D	0.000008	T	0.32852	0.0843	L	0.57536	1.79	0.35905	D	0.830668	B;B	0.19706	0.038;0.022	B;B	0.21708	0.036;0.01	T	0.37619	-0.9698	10	0.56958	D	0.05	-15.8386	13.0512	0.58957	0.0:0.0:0.0:1.0	.	1160;1160	G3V2D8;Q68DK2	.;ZFY26_HUMAN	G	1160;1139;1160	ENSP00000251119:S1160G;ENSP00000450603:S1160G	ENSP00000251119:S1160G	S	-	1	0	ZFYVE26	67321574	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.657000	0.46724	2.098000	0.63641	0.533000	0.62120	AGC		0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		19	156	0	0	0	0.008871	0	19	156				
ADAM20	8748	broad.mit.edu	37	14	70990477	70990477	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:70990477A>T	ENST00000256389.3	-	2	1392	c.1148T>A	c.(1147-1149)tTg>tAg	p.L383*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	333	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		AAAAACGACCAACCTGTTGTC	0.423																																							uc001xme.2		NA																	0				skin(1)	1						c.(1147-1149)TTG>TAG		ADAM metallopeptidase domain 20 preproprotein							277.0	138.0	185.0					14																	70990477		2203	4300	6503	SO:0001587	stop_gained	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990477A>T	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1148T>A	14.37:g.70990477A>T	ENSP00000256389:p.Leu383*						p.L383*	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1393	-			333			Peptidase M12B.|Extracellular (Potential).		Q6GTZ1|Q9UKJ9	Nonsense_Mutation	SNP	ENST00000256389.3	37	c.1148T>A	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810609	0.90707	.	.	ENSG00000134007	ENST00000256389	.	.	.	4.54	0.537	0.17144	.	0.915282	0.08760	N	0.897914	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7168	0.28708	0.4825:0.3908:0.0:0.1267	.	.	.	.	X	383	.	ENSP00000256389:L383X	L	-	2	0	ADAM20	70060230	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.260000	0.32968	-0.091000	0.12440	0.455000	0.32223	TTG		0.423	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			13	42	0	0	0	0.001855	0	13	42				
MAP3K9	4293	broad.mit.edu	37	14	71197334	71197334	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:71197334T>A	ENST00000554752.2	-	12	3077	c.3078A>T	c.(3076-3078)acA>acT	p.T1026T	MAP3K9_ENST00000381250.4_Silent_p.T1003T|MAP3K9_ENST00000554146.1_Silent_p.T754T|MAP3K9_ENST00000555993.2_Silent_p.T1040T|MAP3K9_ENST00000553414.1_Silent_p.T759T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1026	Ser-rich.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGGCGTCTCTGTGCTGGAGC	0.662																																					GBM(114;411 1587 13539 28235 50070)	GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NA																	0				stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(3076-3078)ACA>ACT		mitogen-activated protein kinase kinase kinase							58.0	57.0	57.0					14																	71197334		2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71197334T>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.3078A>T	14.37:g.71197334T>A						MAP3K9_uc010ttk.1_Silent_p.T754T|MAP3K9_uc001xmk.2_Silent_p.T759T|MAP3K9_uc001xml.2_Silent_p.T1040T	p.T1026T	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	12	3078	-			1026			Ser-rich.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.3078A>T																																																																																					0.662	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			10	46	0	0	0	0.008291	0	10	46				
PCNX	22990	broad.mit.edu	37	14	71518724	71518724	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:71518724C>G	ENST00000304743.2	+	24	5018	c.4572C>G	c.(4570-4572)gaC>gaG	p.D1524E	PCNX_ENST00000238570.5_Missense_Mutation_p.D1524E|PCNX_ENST00000439984.3_Missense_Mutation_p.D1413E	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1524						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGAGAGAGACTATAAGTGAG	0.363																																							uc001xmo.2		NA																	0				ovary(1)	1						c.(4570-4572)GAC>GAG		pecanex-like 1							84.0	83.0	83.0					14																	71518724		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71518724C>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4572C>G	14.37:g.71518724C>G	ENSP00000304192:p.Asp1524Glu					PCNX_uc010are.1_Missense_Mutation_p.D1413E|PCNX_uc010arf.1_Missense_Mutation_p.D384E	p.D1524E	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	24	5018	+			1524					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4572C>G	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.37|15.37	2.812693|2.812693	0.50527|0.50527	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.12569|.	3.03;2.69;2.67|.	5.84|5.84	2.04|2.04	0.26737|0.26737	.|.	0.045398|.	0.85682|.	D|.	0.000000|.	T|T	0.75057|0.75057	0.3798|0.3798	M|M	0.87547|0.87547	2.89|2.89	0.48185|0.48185	D|D	0.999606|0.999606	B;B;B|.	0.33857|.	0.096;0.093;0.429|.	B;B;B|.	0.24006|.	0.038;0.042;0.05|.	T|T	0.74982|0.74982	-0.3478|-0.3478	10|5	0.87932|.	D|.	0|.	.|.	10.2062|10.2062	0.43114|0.43114	0.0:0.7405:0.0:0.2595|0.0:0.7405:0.0:0.2595	.|.	1524;1413;1524|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	E|S	1524;1524;1413|583	ENSP00000304192:D1524E;ENSP00000238570:D1524E;ENSP00000396617:D1413E|.	ENSP00000238570:D1524E|.	D|T	+|+	3|2	2|0	PCNX|PCNX	70588477|70588477	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.561000|0.561000	0.23515|0.23515	0.396000|0.396000	0.25283|0.25283	0.557000|0.557000	0.71058|0.71058	GAC|ACT		0.363	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		14	39	0	0	0	0.004007	0	14	39				
PCNX	22990	broad.mit.edu	37	14	71576284	71576284	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:71576284G>T	ENST00000304743.2	+	35	7306	c.6860G>T	c.(6859-6861)aGt>aTt	p.S2287I	PCNX_ENST00000238570.5_Missense_Mutation_p.S2215I|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.S2176I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2287						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAAGACTGGAGTCCGCAGGAG	0.488																																							uc001xmo.2		NA																	0				ovary(1)	1						c.(6859-6861)AGT>ATT		pecanex-like 1							72.0	83.0	79.0					14																	71576284		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71576284G>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6860G>T	14.37:g.71576284G>T	ENSP00000304192:p.Ser2287Ile					PCNX_uc010are.1_Missense_Mutation_p.S2176I|PCNX_uc010arf.1_Missense_Mutation_p.S1075I|PCNX_uc001xmp.2_Missense_Mutation_p.S371I	p.S2287I	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	35	7306	+			2287					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.6860G>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.22|13.22	2.171544|2.171544	0.38315|0.38315	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984;ENST00000555780|ENST00000554691	T;T;T|.	0.10573|.	3.29;3.31;2.86|.	6.16|6.16	3.21|3.21	0.36854|0.36854	.|.	0.119504|.	0.85682|.	D|.	0.000000|.	T|T	0.51618|0.51618	0.1685|0.1685	L|L	0.56769|0.56769	1.78|1.78	0.26267|0.26267	N|N	0.97849|0.97849	P;B;B|.	0.37276|.	0.589;0.28;0.28|.	B;B;B|.	0.35312|.	0.2;0.117;0.117|.	T|T	0.41998|0.41998	-0.9477|-0.9477	10|5	0.46703|.	T|.	0.11|.	.|.	11.6721|11.6721	0.51408|0.51408	0.1256:0.112:0.7624:0.0|0.1256:0.112:0.7624:0.0	.|.	2215;2176;2287|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	I|F	2287;2215;2176;48|1274	ENSP00000304192:S2287I;ENSP00000238570:S2215I;ENSP00000396617:S2176I|.	ENSP00000238570:S2215I|.	S|V	+|+	2|1	0|0	PCNX|PCNX	70646037|70646037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.965000|2.965000	0.49200|0.49200	0.947000|0.947000	0.37659|0.37659	-0.142000|-0.142000	0.14014|0.14014	AGT|GTC		0.488	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	46	1	0	0.000274275	0.004482	0.000306434	5	46				
DPF3	8110	broad.mit.edu	37	14	73181194	73181194	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:73181194C>T	ENST00000556509.1	-	6	540	c.541G>A	c.(541-543)Ggg>Agg	p.G181R	DPF3_ENST00000541685.1_Missense_Mutation_p.G181R|DPF3_ENST00000546183.1_Missense_Mutation_p.G191R|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	181					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCCTGCCCCCTGCAGAGCCG	0.602																																							uc001xnc.2		NA																	0				ovary(1)	1						c.(541-543)GGG>AGG		D4, zinc and double PHD fingers, family 3							65.0	76.0	72.0					14																	73181194		2063	4196	6259	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73181194C>T	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.541G>A	14.37:g.73181194C>T	ENSP00000450518:p.Gly181Arg					DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.G181R|DPF3_uc010ttq.1_Missense_Mutation_p.G191R	p.G181R	NM_012074	NP_036206	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	6	554	-			181					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.541G>A		.	.	.	.	.	.	.	.	.	.	C	17.10	3.303063	0.60195	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90324	-2.65;-0.06;-0.12	4.9	4.9	0.64082	.	.	.	.	.	D	0.92838	0.7722	L	0.41573	1.285	0.42555	D	0.993126	D;D;D	0.89917	0.996;1.0;0.991	D;D;P	0.76575	0.966;0.988;0.888	D	0.93095	0.6503	9	0.49607	T	0.09	.	16.6153	0.84909	0.0:1.0:0.0:0.0	.	191;181;181	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	R	181;180;181;191	ENSP00000450518:G181R;ENSP00000441640:G181R;ENSP00000444662:G191R	ENSP00000381791:G236R	G	-	1	0	DPF3	72250947	0.881000	0.30235	0.958000	0.39756	0.890000	0.51754	2.777000	0.47717	2.431000	0.82371	0.561000	0.74099	GGG		0.602	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			19	48	0	0	0	0.00278	0	19	48				
MLH3	27030	broad.mit.edu	37	14	75514922	75514922	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:75514922T>C	ENST00000556740.1	-	1	1472	c.1437A>G	c.(1435-1437)tcA>tcG	p.S479S	MLH3_ENST00000238662.7_Silent_p.S479S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Silent_p.S479S|MLH3_ENST00000355774.2_Silent_p.S479S			Q9UHC1	MLH3_HUMAN	mutL homolog 3	479					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTCCAGCTTCTGATGCTACAA	0.378								Mismatch excision repair (MMR)																															uc001xrd.1		NA																	0				ovary(1)|skin(1)	2						c.(1435-1437)TCA>TCG	MMR	mutL homolog 3 isoform 1							87.0	93.0	91.0					14																	75514922		2203	4299	6502	SO:0001819	synonymous_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514922T>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1437A>G	14.37:g.75514922T>C						MLH3_uc001xre.1_Silent_p.S479S|MLH3_uc010tuy.1_RNA	p.S479S	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1653	-			479					P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	c.1437A>G	CCDS32123.1																																																																																				0.378	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		7	48	0	0	0	0.00308	0	7	48				
TMEM63C	57156	broad.mit.edu	37	14	77709290	77709290	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:77709290T>C	ENST00000298351.4	+	15	1376	c.1232T>C	c.(1231-1233)aTc>aCc	p.I411T		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	411					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCCCGCTTTATCGCAATCAAC	0.517																																							uc001xtf.2		NA																	0					0						c.(1231-1233)ATC>ACC		transmembrane protein 63C							108.0	116.0	113.0					14																	77709290		2056	4192	6248	SO:0001583	missense	57156					integral to membrane		g.chr14:77709290T>C		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1232T>C	14.37:g.77709290T>C	ENSP00000298351:p.Ile411Thr					TMEM63C_uc010asq.1_Missense_Mutation_p.I411T	p.I411T	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	15	1444	+			411			Helical; (Potential).		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.1232T>C	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053142	0.55218	.	.	ENSG00000165548	ENST00000298351	T	0.32515	1.45	4.88	4.88	0.63580	Domain of unknown function DUF221 (1);	0.481828	0.22536	N	0.058789	T	0.37461	0.1004	L	0.59436	1.845	0.47308	D	0.99938	B	0.26318	0.146	B	0.35655	0.207	T	0.28170	-1.0052	10	0.54805	T	0.06	-17.1392	14.5081	0.67767	0.0:0.0:0.0:1.0	.	411	Q9P1W3	TM63C_HUMAN	T	411	ENSP00000298351:I411T	ENSP00000298351:I411T	I	+	2	0	TMEM63C	76779043	0.994000	0.37717	0.695000	0.30226	0.742000	0.42306	8.040000	0.89188	1.834000	0.53371	0.459000	0.35465	ATC		0.517	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			13	54	0	0	0	0.00245	0	13	54				
SERPINA13P	388007	broad.mit.edu	37	14	95110002	95110002	+	RNA	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:95110002G>T	ENST00000469935.1	+	0	1039					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										TCCCCAACAGGGGCAAGATGA	0.602																																							uc001ydt.2		NA																	0				lung(1)|skin(1)	2						c.(949-951)AGG>AGT		RecName: Full=Serpin A13; Flags: Precursor;							55.0	50.0	51.0					14																	95110002		2203	4300	6503			388007							g.chr14:95110002G>T	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95110002G>T							p.R317S	NR_015340						3	1039	+									Missense_Mutation	SNP	ENST00000469935.1	37	c.951G>T																																																																																					0.602	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		9	23	1	0	0.00621372	0.006214	0.0066725	9	23				
RCOR1	23186	broad.mit.edu	37	14	103174805	103174805	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:103174805C>A	ENST00000570597.1	+	6	655	c.655C>A	c.(655-657)Cca>Aca	p.P219T	RCOR1_ENST00000262241.6_Missense_Mutation_p.P222T			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	219	Interaction with HDAC1.|SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TGTTTAGCTTCCAGATAAATC	0.378																																							uc001ymb.2		NA																	0				ovary(1)	1						c.(655-657)CCA>ACA		REST corepressor 1							120.0	139.0	133.0					14																	103174805		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174805C>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.655C>A	14.37:g.103174805C>A	ENSP00000459789:p.Pro219Thr						p.P219T	NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN			6	655	+			219			Interaction with HDAC1.|SANT 1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.655C>A		.	.	.	.	.	.	.	.	.	.	C	27.0	4.787957	0.90367	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	5.88	0.94601	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.83478	0.5263	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84303	0.0506	9	0.87932	D	0	-18.2134	20.2279	0.98344	0.0:1.0:0.0:0.0	.	219	Q9UKL0	RCOR1_HUMAN	T	219	.	ENSP00000262241:P219T	P	+	1	0	RCOR1	102244558	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.461000	0.80834	2.778000	0.95560	0.655000	0.94253	CCA		0.378	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		35	119	1	0	3.43241e-23	0.009718	6.00311e-23	35	119				
AHNAK2	113146	broad.mit.edu	37	14	105417135	105417135	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:105417135C>T	ENST00000333244.5	-	7	4772	c.4653G>A	c.(4651-4653)gaG>gaA	p.E1551E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1551						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCCTGGACCTCCAGGTCAG	0.642																																							uc010axc.1		NA																	0				ovary(1)	1						c.(4651-4653)GAG>GAA		AHNAK nucleoprotein 2							102.0	100.0	100.0					14																	105417135		1907	4077	5984	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105417135C>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.4653G>A	14.37:g.105417135C>T						AHNAK2_uc001ypx.2_Silent_p.E1451E	p.E1551E	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	4773	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1551					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.4653G>A	CCDS45177.1																																																																																				0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		38	140	0	0	0	0.010771	0	38	140				
NIPA1	123606	broad.mit.edu	37	15	23049045	23049045	+	Silent	SNP	C	C	A	rs371993191		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:23049045C>A	ENST00000337435.4	-	5	798	c.774G>T	c.(772-774)tcG>tcT	p.S258S	NIPA1_ENST00000538684.1_Silent_p.S88S|NIPA1_ENST00000561183.1_Silent_p.S183S|NIPA1_ENST00000437912.2_Silent_p.S183S	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	258					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCGAACACCGAGGAGTCGA	0.612																																							uc001yvc.2		NA																	0					0						c.(772-774)TCG>TCT		non-imprinted in Prader-Willi/Angelman syndrome		C	,	0,4406		0,0,2203	122.0	87.0	99.0		549,774	-10.9	0.3	15		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NIPA1	NM_001142275.1,NM_144599.4	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	183/255,258/330	23049045	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23049045C>A	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.774G>T	15.37:g.23049045C>A						NIPA1_uc001yvd.2_Silent_p.S88S|NIPA1_uc001yve.2_Silent_p.S183S	p.S258S	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	799	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	258			Cytoplasmic (Potential).		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Silent	SNP	ENST00000337435.4	37	c.774G>T	CCDS10011.1																																																																																				0.612	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		8	33	1	0	0.000157383	0.00308	0.00017703	8	33				
SNURF	8926	broad.mit.edu	37	15	25207298	25207298	+	Missense_Mutation	SNP	G	G	T	rs199839388		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:25207298G>T	ENST00000577949.1	+	2	115	c.52G>T	c.(52-54)Gta>Tta	p.V18L	SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.V18L|SNURF_ENST00000338327.4_Missense_Mutation_p.V18L|SNURF_ENST00000338094.6_Missense_Mutation_p.V18L|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000553597.1_3'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	18						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AGAACAGCACGTACCAGAGGT	0.443																																							uc001ywu.2		NA																	0					0						c.(52-54)GTA>TTA		SNRPN upstream reading frame protein							155.0	125.0	135.0					15																	25207298		2203	4300	6503	SO:0001583	missense	8926					nucleus		g.chr15:25207298G>T		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.52G>T	15.37:g.25207298G>T	ENSP00000463201:p.Val18Leu					SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_5'UTR|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywv.1_5'UTR|SNRPN_uc001yww.1_5'UTR|SNRPN_uc001ywx.1_5'UTR|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_RNA|SNRPN_uc001ywy.1_Missense_Mutation_p.V18L	p.V18L	NM_022804	NP_073715	Q9Y675	SNURF_HUMAN		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)	2	178	+		all_cancers(20;1.4e-21)|Breast(32;0.000625)	18					A6NCW2	Missense_Mutation	SNP	ENST00000577949.1	37	c.52G>T	CCDS10016.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256756	0.59321	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	T	0.26011	0.0634	.	.	.	0.27057	N	0.963649	P	0.50272	0.933	B	0.40825	0.341	T	0.04140	-1.0974	7	0.27082	T	0.32	-3.7874	11.3845	0.49776	0.0:0.0:1.0:0.0	.	18	Q9Y675	SNURF_HUMAN	L	18	.	ENSP00000336543:V18L	V	+	1	0	SNURF	22758391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.850000	0.48294	2.412000	0.81896	0.655000	0.94253	GTA		0.443	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		13	68	1	0	1.5739e-10	0.004007	2.24572e-10	13	68				
UBE3A	7337	broad.mit.edu	37	15	25616900	25616900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:25616900C>A	ENST00000397954.2	-	4	429	c.430G>T	c.(430-432)Gag>Tag	p.E144*	UBE3A_ENST00000438097.1_Nonsense_Mutation_p.E121*|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Nonsense_Mutation_p.E121*|UBE3A_ENST00000428984.2_Nonsense_Mutation_p.E121*|UBE3A_ENST00000232165.3_Nonsense_Mutation_p.E141*			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	144					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GAATAATCCTCTCTTTCTCTA	0.343																																							uc001zaq.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(430-432)GAG>TAG		ubiquitin protein ligase E3A isoform 2							54.0	56.0	55.0					15																	25616900		2203	4300	6503	SO:0001587	stop_gained	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616900C>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.430G>T	15.37:g.25616900C>A	ENSP00000381045:p.Glu144*					uc001zae.2_Intron|UBE3A_uc001zar.2_Nonsense_Mutation_p.E121*|UBE3A_uc001zas.2_Nonsense_Mutation_p.E141*|UBE3A_uc001zat.2_Nonsense_Mutation_p.E121*	p.E144*	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	4	430	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	144					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Nonsense_Mutation	SNP	ENST00000397954.2	37	c.430G>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	41	8.784147	0.98952	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	.	.	.	5.84	5.84	0.93424	.	0.044874	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	.	.	.	X	141;141;144;121;121	.	ENSP00000232165:E141X	E	-	1	0	UBE3A	23167993	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	GAG		0.343	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		4	31	1	0	0.00909568	0.009096	0.00967948	4	31				
GABRB3	2562	broad.mit.edu	37	15	26806156	26806156	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:26806156C>T	ENST00000311550.5	-	8	1114	c.1003G>A	c.(1003-1005)Ggc>Agc	p.G335S	GABRB3_ENST00000545868.1_Missense_Mutation_p.G250S|GABRB3_ENST00000299267.4_Missense_Mutation_p.G335S|GABRB3_ENST00000541819.2_Missense_Mutation_p.G391S|GABRB3_ENST00000400188.3_Missense_Mutation_p.G264S	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	335					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTTGAGGGCCTCTTCCAAAG	0.488																																							uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1003-1005)GGC>AGC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						153.0	160.0	158.0					15																	26806156		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806156C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1003G>A	15.37:g.26806156C>T	ENSP00000308725:p.Gly335Ser					GABRB3_uc010uae.1_Missense_Mutation_p.G250S|GABRB3_uc001zba.2_Missense_Mutation_p.G335S|GABRB3_uc001zbb.2_Missense_Mutation_p.G391S	p.G335S	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1145	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	335			Cytoplasmic (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1003G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491053	0.84962	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	M	0.62209	1.925	0.80722	D	1	P;B;B	0.36789	0.57;0.168;0.202	B;B;B	0.39876	0.312;0.085;0.139	T	0.78871	-0.2033	10	0.13853	T	0.58	.	17.7373	0.88397	0.0:1.0:0.0:0.0	.	391;335;335	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	S	335;391;335;264;250	ENSP00000308725:G335S;ENSP00000442408:G391S;ENSP00000299267:G335S;ENSP00000383049:G264S;ENSP00000439169:G250S	ENSP00000299267:G335S	G	-	1	0	GABRB3	24357249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.620000	0.83070	2.416000	0.81992	0.655000	0.94253	GGC		0.488	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			9	49	0	0	0	0.004482	0	9	49				
GABRB3	2562	broad.mit.edu	37	15	26812798	26812798	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:26812798T>A	ENST00000311550.5	-	7	876	c.765A>T	c.(763-765)atA>atT	p.I255I	GABRB3_ENST00000545868.1_Silent_p.I170I|GABRB3_ENST00000299267.4_Silent_p.I255I|GABRB3_ENST00000541819.2_Silent_p.I311I|GABRB3_ENST00000400188.3_Silent_p.I184I	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	255					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGTTATCAGTATAGAGGGCA	0.418																																							uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(763-765)ATA>ATT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						132.0	112.0	118.0					15																	26812798		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812798T>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.765A>T	15.37:g.26812798T>A						GABRB3_uc010uae.1_Silent_p.I170I|GABRB3_uc001zba.2_Silent_p.I255I|GABRB3_uc001zbb.2_Silent_p.I311I	p.I255I	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	907	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	255			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.765A>T	CCDS10019.1																																																																																				0.418	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			10	51	0	0	0	0.008291	0	10	51				
GABRB3	2562	broad.mit.edu	37	15	26812836	26812836	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:26812836T>C	ENST00000311550.5	-	7	838	c.727A>G	c.(727-729)Att>Gtt	p.I243V	GABRB3_ENST00000545868.1_Missense_Mutation_p.I158V|GABRB3_ENST00000299267.4_Missense_Mutation_p.I243V|GABRB3_ENST00000541819.2_Missense_Mutation_p.I299V|GABRB3_ENST00000400188.3_Missense_Mutation_p.I172V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	243					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGTATCCAATGTTCCTCTTC	0.433																																							uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(727-729)ATT>GTT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						137.0	115.0	123.0					15																	26812836		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812836T>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.727A>G	15.37:g.26812836T>C	ENSP00000308725:p.Ile243Val					GABRB3_uc010uae.1_Missense_Mutation_p.I158V|GABRB3_uc001zba.2_Missense_Mutation_p.I243V|GABRB3_uc001zbb.2_Missense_Mutation_p.I299V	p.I243V	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	869	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	243			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.727A>G	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912038	0.72983	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel ligand-binding (1);Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	L	0.43152	1.355	0.80722	D	1	P;P;P	0.50617	0.812;0.923;0.937	B;P;P	0.51415	0.421;0.54;0.669	D	0.86615	0.1875	10	0.52906	T	0.07	.	15.7938	0.78394	0.0:0.0:0.0:1.0	.	299;243;243	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	243;299;243;172;158	ENSP00000308725:I243V;ENSP00000442408:I299V;ENSP00000299267:I243V;ENSP00000383049:I172V;ENSP00000439169:I158V	ENSP00000299267:I243V	I	-	1	0	GABRB3	24363929	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.926000	0.87569	2.322000	0.78497	0.528000	0.53228	ATT		0.433	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			12	46	0	0	0	0.00245	0	12	46				
GABRA5	2558	broad.mit.edu	37	15	27184577	27184577	+	Intron	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:27184577G>T	ENST00000335625.5	+	9	1612				GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron|GABRB3_ENST00000541819.2_Missense_Mutation_p.Q3K	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5						associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CTCCTGAGCTGCTGCATCTCA	0.597																																							uc001zbb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(7-9)CAG>AAG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						28.0	25.0	26.0					15																	27184577		876	1990	2866	SO:0001627	intron_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:27184577G>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.725-495G>T	15.37:g.27184577G>T						GABRA5_uc001zbd.1_Intron	p.Q3K	NM_021912	NP_068712	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	1	110	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	Error:Variant_position_missing_in_P28472_after_alignment					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.7C>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731352	0.48939	.	.	ENSG00000166206	ENST00000541819	T	0.80393	-1.37	4.93	-3.61	0.04556	.	.	.	.	.	T	0.64249	0.2581	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52343	-0.8588	8	0.87932	D	0	.	1.6292	0.02729	0.1487:0.1924:0.2552:0.4037	.	3	F5H7N0	.	K	3	ENSP00000442408:Q3K	ENSP00000442408:Q3K	Q	-	1	0	GABRB3	24767323	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.066000	0.11598	-0.659000	0.05359	0.561000	0.74099	CAG		0.597	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			7	15	1	0	0.00307968	0.00308	0.00334607	7	15				
RYR3	6263	broad.mit.edu	37	15	33833039	33833039	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:33833039G>C	ENST00000389232.4	+	7	664	c.594G>C	c.(592-594)atG>atC	p.M198I	RYR3_ENST00000415757.3_Missense_Mutation_p.M198I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	198	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCCTTTATGCAAACACTCT	0.443																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(592-594)ATG>ATC		ryanodine receptor 3							127.0	123.0	124.0					15																	33833039		1994	4175	6169	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33833039G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.594G>C	15.37:g.33833039G>C	ENSP00000373884:p.Met198Ile					RYR3_uc010bar.2_Missense_Mutation_p.M198I	p.M198I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	7	664	+		all_lung(180;7.18e-09)	198			MIR 2.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.594G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976847	0.53720	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98264	-4.83;-4.83	5.8	5.8	0.92144	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	L	0.54323	1.7	0.80722	D	1	P;B	0.44281	0.831;0.425	P;B	0.54664	0.758;0.089	D	0.97417	1.0006	10	0.22706	T	0.39	.	19.6603	0.95864	0.0:0.0:1.0:0.0	.	198;198	Q15413-2;Q15413	.;RYR3_HUMAN	I	198	ENSP00000373884:M198I;ENSP00000399610:M198I	ENSP00000354735:M198I	M	+	3	0	RYR3	31620331	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.671000	0.74472	2.748000	0.94277	0.655000	0.94253	ATG		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			21	64	0	0	0	0.00333	0	21	64				
RYR3	6263	broad.mit.edu	37	15	33835886	33835886	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:33835886C>A	ENST00000389232.4	+	8	780	c.710C>A	c.(709-711)cCa>cAa	p.P237Q	RYR3_ENST00000415757.3_Missense_Mutation_p.P237Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	237	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGACGATACCATCTACAGAC	0.403																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(709-711)CCA>CAA		ryanodine receptor 3							260.0	243.0	248.0					15																	33835886		1939	4146	6085	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33835886C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.710C>A	15.37:g.33835886C>A	ENSP00000373884:p.Pro237Gln					RYR3_uc010bar.2_Missense_Mutation_p.P237Q	p.P237Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	8	780	+		all_lung(180;7.18e-09)	237			MIR 3.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.710C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617766	0.46736	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91237	-2.81;-2.81	5.02	0.701	0.18104	MIR motif (2);MIR (2);	0.132739	0.51477	D	0.000088	D	0.92708	0.7682	M	0.76170	2.325	0.47308	D	0.999383	B;D	0.76494	0.003;0.999	B;D	0.71184	0.012;0.972	D	0.90151	0.4221	10	0.54805	T	0.06	.	6.1001	0.20043	0.1333:0.6187:0.0:0.2479	.	237;237	Q15413-2;Q15413	.;RYR3_HUMAN	Q	237	ENSP00000373884:P237Q;ENSP00000399610:P237Q	ENSP00000354735:P237Q	P	+	2	0	RYR3	31623178	0.982000	0.34865	0.996000	0.52242	0.933000	0.57130	1.362000	0.34148	0.642000	0.30620	0.563000	0.77884	CCA		0.403	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			16	132	1	0	1.56452e-12	0.007413	2.34537e-12	16	132				
RYR3	6263	broad.mit.edu	37	15	34137231	34137231	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:34137231C>A	ENST00000389232.4	+	93	13535	c.13465C>A	c.(13465-13467)Cta>Ata	p.L4489I	RYR3_ENST00000415757.3_Missense_Mutation_p.L4484I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4489					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCATCTCTCTAGTCTGTGT	0.517																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(13465-13467)CTA>ATA		ryanodine receptor 3							137.0	136.0	136.0					15																	34137231		2054	4206	6260	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34137231C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13465C>A	15.37:g.34137231C>A	ENSP00000373884:p.Leu4489Ile					RYR3_uc010bar.2_Missense_Mutation_p.L4484I	p.L4489I	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	93	13535	+		all_lung(180;7.18e-09)	4489			Helical; Name=M6; (Potential).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13465C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246925	0.39697	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.95171	-3.63	5.24	2.01	0.26516	Ryanodine Receptor TM 4-6 (1);	0.361514	0.26911	N	0.021879	D	0.93177	0.7827	M	0.64170	1.965	0.27963	N	0.936708	B;B	0.27380	0.073;0.177	B;B	0.39339	0.049;0.297	D	0.87158	0.2213	10	0.42905	T	0.14	.	8.9723	0.35915	0.0:0.1346:0.0:0.8654	.	4484;4489	Q15413-2;Q15413	.;RYR3_HUMAN	I	4489;4485	ENSP00000373884:L4489I	ENSP00000354735:L4485I	L	+	1	2	RYR3	31924523	0.988000	0.35896	0.878000	0.34440	0.887000	0.51463	1.029000	0.30140	0.313000	0.23062	0.655000	0.94253	CTA		0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			12	96	1	0	1.15088e-07	0.004007	1.46331e-07	12	96				
NUTM1	256646	broad.mit.edu	37	15	34647285	34647286	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:34647285_34647286CC>AA	ENST00000333756.4	+	6	1497_1498	c.1342_1343CC>AA	c.(1342-1344)CCc>AAc	p.P448N	NUTM1_ENST00000438749.3_Missense_Mutation_p.P466N|NUTM1_ENST00000537011.1_Missense_Mutation_p.P476N	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	448						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACAGAGAGATCCCTTGGCCTTA	0.455																																							uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(1342-1344)CCC>AAC		nuclear protein in testis																																				SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34647285_34647286CC>AA	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	Exception_encountered	15.37:g.34647285_34647286delinsAA	ENSP00000329448:p.Pro448Asn					C15orf55_uc010ucc.1_Missense_Mutation_p.P476N|C15orf55_uc010ucd.1_Missense_Mutation_p.P466N	p.P448N	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	6	1497_1498	+		all_lung(180;2.78e-08)	448					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	DNP	ENST00000333756.4	37	c.1342_1343CC>AA	CCDS32190.1																																																																																				0.455	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		11	62	0	0	0	0.004672	0	11	62				
GPR176	11245	broad.mit.edu	37	15	40093898	40093898	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:40093898C>A	ENST00000561100.1	-	3	1848	c.983G>T	c.(982-984)cGc>cTc	p.R328L	GPR176_ENST00000543580.1_Missense_Mutation_p.R283L|GPR176_ENST00000560729.1_5'Flank|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Missense_Mutation_p.R327L	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	328					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R328L(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAAGCACTTGCGGACAGATTT	0.552											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001zkj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(982-984)CGC>CTC		G protein-coupled receptor 176							79.0	72.0	74.0					15																	40093898		2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093898C>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.983G>T	15.37:g.40093898C>A	ENSP00000453076:p.Arg328Leu		OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	GPR176_uc010uck.1_Missense_Mutation_p.R268L	p.R328L	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	1849	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	328			Cytoplasmic (Potential).		Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.983G>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909579	0.92107	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.57595	0.39	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70710	-0.4797	10	0.87932	D	0	-23.1617	20.6634	0.99662	0.0:1.0:0.0:0.0	.	328	Q14439	GP176_HUMAN	L	328;283	ENSP00000439361:R283L	ENSP00000299092:R328L	R	-	2	0	GPR176	37881190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.894000	0.99253	0.655000	0.94253	CGC		0.552	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		11	55	1	0	6.40141e-05	0.010729	7.33993e-05	11	55				
ZNF106	64397	broad.mit.edu	37	15	42727683	42727683	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:42727683T>A	ENST00000263805.4	-	11	5037	c.4711A>T	c.(4711-4713)Acc>Tcc	p.T1571S	ZNF106_ENST00000565380.1_Missense_Mutation_p.T799S|ZNF106_ENST00000565611.1_Missense_Mutation_p.T756S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1571					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACTTTGGAGGTATGACCCTCA	0.423																																							uc001zpw.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(4711-4713)ACC>TCC		zinc finger protein 106 homolog							142.0	134.0	137.0					15																	42727683		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42727683T>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4711A>T	15.37:g.42727683T>A	ENSP00000263805:p.Thr1571Ser					ZFP106_uc001zpu.2_Missense_Mutation_p.T669S|ZFP106_uc001zpv.2_Missense_Mutation_p.T756S|ZFP106_uc001zpx.2_Missense_Mutation_p.T799S	p.T1571S	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	11	5046	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	1571			WD 2.		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.4711A>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099253	0.37048	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.62639	0.01	5.14	1.3	0.21679	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.366031	0.30850	N	0.008748	T	0.42471	0.1204	N	0.25380	0.74	0.34471	D	0.702855	B;B;B	0.17852	0.011;0.013;0.024	B;B;B	0.23716	0.013;0.02;0.048	T	0.29671	-1.0004	10	0.27082	T	0.32	-1.7628	5.3702	0.16134	0.2681:0.0769:0.0:0.6551	.	799;1571;799	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	S	1571;799	ENSP00000263805:T1571S	ENSP00000263805:T1571S	T	-	1	0	ZFP106	40514975	1.000000	0.71417	0.963000	0.40424	0.746000	0.42486	1.907000	0.39897	0.044000	0.15775	0.533000	0.62120	ACC		0.423	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		21	70	0	0	0	0.00278	0	21	70				
DUOX2	50506	broad.mit.edu	37	15	45396433	45396433	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:45396433A>T	ENST00000603300.1	-	19	2667	c.2465T>A	c.(2464-2466)aTg>aAg	p.M822K	DUOX2_ENST00000389039.6_Missense_Mutation_p.M822K	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	822	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTCCACAAACATGTCCTGGGG	0.602																																							uc010bea.2		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(2464-2466)ATG>AAG		dual oxidase 2 precursor							42.0	39.0	40.0					15																	45396433		2198	4295	6493	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45396433A>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2465T>A	15.37:g.45396433A>T	ENSP00000475084:p.Met822Lys					DUOX2_uc001zun.2_Missense_Mutation_p.M822K	p.M822K	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	19	2668	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	822			Cytoplasmic (Potential).|EF-hand 1.		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.2465T>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936639	0.73442	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.23	5.23	0.72850	EF-hand-like domain (1);	0.100488	0.64402	D	0.000002	T	0.36826	0.0981	N	0.05330	-0.07	0.46849	D	0.999227	P;P	0.51240	0.804;0.943	P;P	0.51170	0.544;0.661	T	0.41052	-0.9530	9	0.87932	D	0	-31.1373	9.9333	0.41537	0.8484:0.0:0.0:0.1516	.	822;384	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	K	822	.	ENSP00000373691:M822K	M	-	2	0	DUOX2	43183725	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.143000	0.64826	2.086000	0.62901	0.460000	0.39030	ATG		0.602	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		4	30	0	0	0	0.001984	0	4	30				
DUOX2	50506	broad.mit.edu	37	15	45402891	45402891	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:45402891C>T	ENST00000603300.1	-	8	1102	c.900G>A	c.(898-900)gaG>gaA	p.E300E	DUOX2_ENST00000389039.6_Silent_p.E300E	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	300	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGGGCAGCCACTCATACACAG	0.612																																							uc010bea.2		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(898-900)GAG>GAA		dual oxidase 2 precursor							52.0	47.0	49.0					15																	45402891		2198	4294	6492	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45402891C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.900G>A	15.37:g.45402891C>T						DUOX2_uc001zun.2_Silent_p.E300E	p.E300E	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	8	1103	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	300			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.900G>A	CCDS10117.1																																																																																				0.612	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		7	65	0	0	0	0.006214	0	7	65				
VPS13C	54832	broad.mit.edu	37	15	62300902	62300902	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:62300902T>C	ENST00000261517.5	-	14	1143	c.1070A>G	c.(1069-1071)tAt>tGt	p.Y357C	VPS13C_ENST00000395898.3_Missense_Mutation_p.Y314C|VPS13C_ENST00000249837.3_Missense_Mutation_p.Y314C|VPS13C_ENST00000395896.4_Missense_Mutation_p.Y357C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTATTTCCTATAAGGCGCATT	0.289																																							uc002agz.2		NA																	0				ovary(2)	2						c.(1069-1071)TAT>TGT		vacuolar protein sorting 13C protein isoform 2A							109.0	83.0	92.0					15																	62300902		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62300902T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1070A>G	15.37:g.62300902T>C	ENSP00000261517:p.Tyr357Cys					VPS13C_uc002aha.2_Missense_Mutation_p.Y314C|VPS13C_uc002ahb.1_Missense_Mutation_p.Y357C|VPS13C_uc002ahc.1_Missense_Mutation_p.Y314C	p.Y357C	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			14	1144	-			357						Missense_Mutation	SNP	ENST00000261517.5	37	c.1070A>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981507	0.74474	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.43294	0.95;0.95;0.95	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000002	T	0.65863	0.2732	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.64830	0.983;0.983;0.992;0.994	P;P;P;P	0.58454	0.749;0.749;0.774;0.839	T	0.74708	-0.3574	10	0.87932	D	0	.	15.0001	0.71464	0.0:0.0:0.0:1.0	.	314;357;314;357	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	C	314;357;357;357	ENSP00000249837:Y314C;ENSP00000261517:Y357C;ENSP00000379233:Y357C	ENSP00000249837:Y314C	Y	-	2	0	VPS13C	60088194	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.772000	0.75001	2.018000	0.59344	0.533000	0.62120	TAT		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		10	34	0	0	0	0.013537	0	10	34				
PAQR5	54852	broad.mit.edu	37	15	69682101	69682101	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:69682101G>T	ENST00000340965.3	+	6	1162	c.494G>T	c.(493-495)gGc>gTc	p.G165V	PAQR5_ENST00000395407.2_Missense_Mutation_p.G165V|PAQR5_ENST00000561153.1_Missense_Mutation_p.G165V|RP11-253M7.6_ENST00000560870.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	165					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CTCAGCACAGGCCTCTCCTGC	0.582																																							uc002arz.2		NA																	0				ovary(2)	2						c.(493-495)GGC>GTC		progestin and adipoQ receptor family member V							129.0	96.0	108.0					15																	69682101		2199	4298	6497	SO:0001583	missense	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69682101G>T		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.494G>T	15.37:g.69682101G>T	ENSP00000343877:p.Gly165Val					PAQR5_uc002asa.2_Missense_Mutation_p.G165V	p.G165V	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN			6	872	+			165			Cytoplasmic (Potential).		Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	c.494G>T	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691819	0.30052	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.27104	1.69;1.69	4.66	4.66	0.58398	.	0.334839	0.35646	N	0.003080	T	0.25306	0.0615	L	0.50919	1.6	0.58432	D	0.999994	B	0.34061	0.436	B	0.39119	0.291	T	0.02837	-1.1104	10	0.16896	T	0.51	-15.2483	11.3513	0.49589	0.0:0.184:0.816:0.0	.	165	Q9NXK6	MPRG_HUMAN	V	165	ENSP00000378803:G165V;ENSP00000343877:G165V	ENSP00000343877:G165V	G	+	2	0	PAQR5	67469155	0.304000	0.24472	1.000000	0.80357	0.779000	0.44077	1.912000	0.39946	2.298000	0.77334	0.563000	0.77884	GGC		0.582	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		16	66	1	0	1.45105e-14	0.006122	2.26539e-14	16	66				
STRA6	64220	broad.mit.edu	37	15	74472534	74472534	+	Missense_Mutation	SNP	C	C	A	rs144308388	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:74472534C>A	ENST00000323940.5	-	19	2136	c.1891G>T	c.(1891-1893)Ggg>Tgg	p.G631W	STRA6_ENST00000416286.3_Missense_Mutation_p.G623W|STRA6_ENST00000449139.2_Missense_Mutation_p.G631W|STRA6_ENST00000423167.2_Missense_Mutation_p.G622W|STRA6_ENST00000563965.1_Missense_Mutation_p.G670W|STRA6_ENST00000574278.1_Missense_Mutation_p.G646W|STRA6_ENST00000395105.4_Missense_Mutation_p.G631W|STRA6_ENST00000535552.1_Missense_Mutation_p.G668W|RP11-665J16.1_ENST00000561647.1_RNA|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	631					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CGGCTGGCCCCGGGCCTAGCT	0.632																																							uc002axk.2		NA																	0				central_nervous_system(1)	1						c.(1891-1893)GGG>TGG		stimulated by retinoic acid gene 6 homolog							88.0	100.0	96.0					15																	74472534		2198	4297	6495	SO:0001583	missense	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74472534C>A	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1891G>T	15.37:g.74472534C>A	ENSP00000326085:p.Gly631Trp					STRA6_uc002axi.2_Missense_Mutation_p.G440W|STRA6_uc010ulh.1_Missense_Mutation_p.G669W|STRA6_uc002axj.2_Missense_Mutation_p.G670W|STRA6_uc010bji.2_Missense_Mutation_p.G631W|STRA6_uc002axl.2_Missense_Mutation_p.G563W|STRA6_uc002axm.2_Missense_Mutation_p.G631W|STRA6_uc002axn.2_Missense_Mutation_p.G622W|STRA6_uc010uli.1_Missense_Mutation_p.G668W	p.G631W	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN			19	2073	-			631			Cytoplasmic (Potential).		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	c.1891G>T	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	T	5.373	0.254149	0.10185	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	T;T;T;T	0.80653	-1.38;-1.38;-1.39;-1.4	4.5	-1.6	0.08426	.	0.338717	0.31760	N	0.007115	T	0.53351	0.1791	N	0.08118	0	0.09310	N	0.999999	P;B;P;P;B;P	0.45827	0.765;0.414;0.474;0.474;0.414;0.867	B;B;B;B;B;B	0.30646	0.118;0.054;0.039;0.074;0.054;0.088	T	0.56878	-0.7906	10	0.72032	D	0.01	-2.2793	11.1911	0.48685	0.0:0.074:0.6205:0.3056	.	668;669;622;631;670;440	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	W	631;631;563;440;670;622;668;521	ENSP00000378537:G631W;ENSP00000326085:G631W;ENSP00000413012:G622W;ENSP00000440238:G668W	ENSP00000326085:G631W	G	-	1	0	STRA6	72259587	0.010000	0.17322	0.000000	0.03702	0.019000	0.09904	0.237000	0.17985	-0.555000	0.06142	-0.521000	0.04368	GGG		0.632	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			39	145	1	0	5.34276e-22	0.01441	9.30492e-22	39	145				
C15orf26	161502	broad.mit.edu	37	15	81440257	81440257	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:81440257G>T	ENST00000286732.4	+	6	778	c.695G>T	c.(694-696)cGg>cTg	p.R232L		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	232								p.R232Q(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GCAGCCCACCGGCATCTTTTC	0.388																																							uc002bgb.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(694-696)CGG>CTG		hypothetical protein LOC161502							57.0	57.0	57.0					15																	81440257		1823	4083	5906	SO:0001583	missense	161502							g.chr15:81440257G>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.695G>T	15.37:g.81440257G>T	ENSP00000286732:p.Arg232Leu						p.R232L	NM_173528	NP_775799	Q6P656	CO026_HUMAN			6	722	+			232					Q8N906	Missense_Mutation	SNP	ENST00000286732.4	37	c.695G>T	CCDS42068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.96|12.96	2.093659|2.093659	0.36952|0.36952	.|.	.|.	ENSG00000156206|ENSG00000156206	ENST00000398681|ENST00000286732	.|T	.|0.49432	.|0.78	4.23|4.23	4.23|4.23	0.50019|0.50019	.|.	.|0.122938	.|0.53938	.|D	.|0.000046	T|T	0.68393|0.68393	0.2996|0.2996	M|M	0.77820|0.77820	2.39|2.39	0.25436|0.25436	N|N	0.988132|0.988132	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.61700|0.61700	-0.7009|-0.7009	6|10	0.87932|0.41790	D|T	0|0.15	-2.5284|-2.5284	15.9299|15.9299	0.79651|0.79651	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|232	.|Q6P656	.|CO026_HUMAN	C|L	196|232	.|ENSP00000286732:R232L	ENSP00000381671:G196C|ENSP00000286732:R232L	G|R	+|+	1|2	0|0	C15orf26|C15orf26	79227312|79227312	0.996000|0.996000	0.38824|0.38824	0.241000|0.241000	0.24154|0.24154	0.046000|0.046000	0.14306|0.14306	4.169000|4.169000	0.58223|0.58223	2.353000|2.353000	0.79882|0.79882	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.388	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		4	62	1	0	0.00116845	0.001168	0.00128127	4	62				
ADAMTSL3	57188	broad.mit.edu	37	15	84488657	84488657	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:84488657G>A	ENST00000286744.5	+	6	682	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R153Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	153						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGCTTCCACGATATAATGAT	0.522																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(457-459)CGA>CAA		ADAMTS-like 3 precursor							107.0	84.0	92.0					15																	84488657		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84488657G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.458G>A	15.37:g.84488657G>A	ENSP00000286744:p.Arg153Gln					ADAMTSL3_uc002bjy.1_Missense_Mutation_p.R153Q|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R153Q|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R153Q	p.R153Q	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		6	682	+			153					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.458G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589646	0.28357	.	.	ENSG00000156218	ENST00000286744	T	0.03524	3.9	5.26	-5.71	0.02413	.	3.530630	0.00541	N	0.000231	T	0.03220	0.0094	L	0.32530	0.975	0.09310	N	1	B;B	0.16802	0.007;0.019	B;B	0.12156	0.007;0.001	T	0.42565	-0.9444	10	0.26408	T	0.33	.	5.9165	0.19057	0.3286:0.0:0.1847:0.4867	.	153;153	P82987-2;P82987	.;ATL3_HUMAN	Q	153	ENSP00000286744:R153Q	ENSP00000286744:R153Q	R	+	2	0	ADAMTSL3	82279661	0.003000	0.15002	0.000000	0.03702	0.278000	0.26855	0.695000	0.25527	-0.752000	0.04728	0.650000	0.86243	CGA		0.522	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		5	40	0	0	0	0.000602	0	5	40				
ADAMTSL3	57188	broad.mit.edu	37	15	84651167	84651167	+	Silent	SNP	C	C	A	rs201695656		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:84651167C>A	ENST00000286744.5	+	21	3011	c.2787C>A	c.(2785-2787)tcC>tcA	p.S929S	ADAMTSL3_ENST00000567476.1_Silent_p.S929S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	929	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAACACATCCGTGATTATTA	0.512																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2785-2787)TCC>TCA		ADAMTS-like 3 precursor							162.0	147.0	152.0					15																	84651167		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651167C>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2787C>A	15.37:g.84651167C>A						ADAMTSL3_uc010bmt.1_Silent_p.S929S|ADAMTSL3_uc010bmu.1_Silent_p.S929S	p.S929S	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3011	+			929			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2787C>A	CCDS10326.1																																																																																				0.512	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		19	86	1	0	1.33834e-09	0.007413	1.82181e-09	19	86				
NTRK3	4916	broad.mit.edu	37	15	88576128	88576128	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:88576128C>A	ENST00000360948.2	-	13	1706	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	NTRK3_ENST00000355254.2_Missense_Mutation_p.Q515H|NTRK3_ENST00000394480.2_Missense_Mutation_p.Q515H|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q507H|NTRK3_ENST00000540489.2_Missense_Mutation_p.Q515H|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q507H|NTRK3_ENST00000558676.1_Missense_Mutation_p.Q507H|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q417H|NTRK3_ENST00000317501.3_Missense_Mutation_p.Q515H	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	515					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACGGAAGTACTGGGGGTTCT	0.592			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1543-1545)CAG>CAT		neurotrophic tyrosine kinase, receptor, type 3							103.0	76.0	85.0					15																	88576128		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576128C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1545G>T	15.37:g.88576128C>A	ENSP00000354207:p.Gln515His	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.Q507H|NTRK3_uc002bmf.1_Missense_Mutation_p.Q515H|NTRK3_uc010upl.1_Missense_Mutation_p.Q417H|NTRK3_uc010bnh.1_Missense_Mutation_p.Q507H|NTRK3_uc002bmg.2_Missense_Mutation_p.Q515H|NTRK3_uc010bni.2_RNA	p.Q515H	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1707	-			515			Cytoplasmic (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1545G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172910	0.78452	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782;ENST00000540489;ENST00000317501	D;D;D;D;D;T;T	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-0.33;-0.33	4.91	3.98	0.46160	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	0.974;0.987;0.999;0.998;0.985;1.0	P;P;D;D;P;D	0.79784	0.694;0.809;0.98;0.993;0.838;0.985	D	0.93106	0.6512	10	0.87932	D	0	.	12.7976	0.57567	0.0:0.9208:0.0:0.0792	.	417;507;507;515;515;515	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	H	515;515;507;515;417;11;515;515	ENSP00000377990:Q515H;ENSP00000354207:Q515H;ENSP00000350356:Q507H;ENSP00000347397:Q515H;ENSP00000437773:Q417H;ENSP00000444673:Q515H;ENSP00000318328:Q515H	ENSP00000318328:Q515H	Q	-	3	2	NTRK3	86377132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.385000	0.44371	1.263000	0.44181	0.650000	0.86243	CAG		0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				6	55	1	0	2.7689e-08	0.001984	3.60914e-08	6	55				
PRC1	9055	broad.mit.edu	37	15	91510376	91510376	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:91510376G>C	ENST00000361188.5	-	14	3017	c.1806C>G	c.(1804-1806)acC>acG	p.T602T	PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Silent_p.T616T|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_3'UTR|PRC1_ENST00000442656.2_3'UTR					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACTGGATGTTGGTTGAATTGA	0.438																																							uc002bqm.2		NA																	0				ovary(1)|skin(1)	2						c.(1846-1848)ACC>ACG		protein regulator of cytokinesis 1 isoform 1							135.0	129.0	131.0					15																	91510376		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91510376G>C	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1806C>G	15.37:g.91510376G>C						PRC1_uc002bqn.2_Silent_p.T602T|PRC1_uc002bqo.2_3'UTR|PRC1_uc010uqs.1_3'UTR	p.T616T	NM_003981	NP_003972	O43663	PRC1_HUMAN			15	2005	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		616			Unstructured, Arg/Lys rich.			Silent	SNP	ENST00000361188.5	37	c.1848C>G	CCDS45352.1																																																																																				0.438	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		10	80	0	0	0	0.001855	0	10	80				
VPS33B	26276	broad.mit.edu	37	15	91551121	91551121	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:91551121T>A	ENST00000333371.3	-	7	830	c.477A>T	c.(475-477)gaA>gaT	p.E159D	VPS33B_ENST00000535906.1_Missense_Mutation_p.E132D|VPS33B_ENST00000535843.1_Missense_Mutation_p.E68D	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	159					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCCTGAAAAATTCTGGTAGTT	0.493																																							uc002bqp.1		NA																	0				ovary(2)	2						c.(475-477)GAA>GAT		vacuolar protein sorting 33B (yeast homolog))							141.0	138.0	139.0					15																	91551121		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91551121T>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.477A>T	15.37:g.91551121T>A	ENSP00000327650:p.Glu159Asp					VPS33B_uc002bqq.1_Missense_Mutation_p.E68D|VPS33B_uc010uqu.1_Missense_Mutation_p.E132D	p.E159D	NM_018668	NP_061138	Q9H267	VP33B_HUMAN			7	831	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		159					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.477A>T	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980101	0.53827	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.76186	-1.0;-1.0;-1.0	5.54	-1.19	0.09585	.	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	N	0.25144	0.715	0.50313	D	0.999864	P;P	0.46142	0.873;0.801	B;B	0.42361	0.385;0.192	T	0.54186	-0.8331	10	0.08599	T	0.76	-4.8159	11.6439	0.51250	0.0:0.4318:0.0:0.5682	.	132;159	F5H008;Q9H267	.;VP33B_HUMAN	D	159;132;68;114	ENSP00000327650:E159D;ENSP00000444053:E132D;ENSP00000446267:E68D	ENSP00000327650:E159D	E	-	3	2	VPS33B	89352125	0.998000	0.40836	0.991000	0.47740	0.997000	0.91878	0.377000	0.20552	-0.350000	0.08262	0.533000	0.62120	GAA		0.493	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		22	106	0	0	0	0.004656	0	22	106				
SYNM	23336	broad.mit.edu	37	15	99669845	99669845	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:99669845C>A	ENST00000560674.1	+	4	891	c.422C>A	c.(421-423)aCt>aAt	p.T141N	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.T426N|SYNM_ENST00000336292.6_Missense_Mutation_p.T426N			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	427	Coil 1B.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AACGTCAGAACTTTCTCTCCA	0.498																																					Pancreas(125;1071 1762 21750 40003 40381)	Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1279-1281)ACT>AAT		desmuslin isoform A							78.0	83.0	82.0					15																	99669845		1894	4110	6004	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99669845C>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.422C>A	15.37:g.99669845C>A	ENSP00000453040:p.Thr141Asn					SYNM_uc002buo.2_Missense_Mutation_p.T427N|SYNM_uc002buq.2_Intron	p.T427N	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	1400	+			427			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1280C>A		.	.	.	.	.	.	.	.	.	.	C	18.53	3.644589	0.67358	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.28895	1.59;1.59	5.22	4.3	0.51218	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.09310	N	1	D;D	0.61080	0.989;0.966	P;P	0.50314	0.637;0.598	T	0.26052	-1.0114	8	0.59425	D	0.04	.	14.4267	0.67220	0.1481:0.8519:0.0:0.0	.	427;426	O15061;C9JIE4	SYNEM_HUMAN;.	N	426	ENSP00000336775:T426N;ENSP00000330469:T426N	ENSP00000330469:T426N	T	+	2	0	SYNM	97487368	0.001000	0.12720	0.002000	0.10522	0.320000	0.28249	1.351000	0.34022	1.194000	0.43101	0.650000	0.86243	ACT		0.498	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		8	53	1	0	5.4927e-09	0.004482	7.39197e-09	8	53				
NARFL	64428	broad.mit.edu	37	16	787273	787273	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:787273C>A	ENST00000251588.2	-	3	235	c.219G>T	c.(217-219)gcG>gcT	p.A73A	NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Silent_p.A73A|NARFL_ENST00000568545.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	73					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AGCCGCTGCACGCCAGGCAGT	0.617																																							uc002cjr.2		NA																	0					0						c.(217-219)GCG>GCT		nuclear prelamin A recognition factor-like							135.0	121.0	126.0					16																	787273		2200	4299	6499	SO:0001819	synonymous_variant	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:787273C>A	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.219G>T	16.37:g.787273C>A						NARFL_uc002cjp.2_5'UTR|NARFL_uc002cjq.2_5'UTR|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_Silent_p.A73A|NARFL_uc010uur.1_Silent_p.A73A	p.A73A	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN			3	231	-		Hepatocellular(780;0.0218)	73					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	ENST00000251588.2	37	c.219G>T	CCDS10425.1																																																																																				0.617	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		25	109	1	0	7.26314e-15	0.007291	1.15348e-14	25	109				
MSLN	10232	broad.mit.edu	37	16	817446	817446	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:817446G>C	ENST00000382862.3	+	15	1691	c.1596G>C	c.(1594-1596)atG>atC	p.M532I	MSLN_ENST00000563941.1_Missense_Mutation_p.M524I|MIR662_ENST00000384847.1_RNA|MSLN_ENST00000545450.2_Missense_Mutation_p.M524I|MSLN_ENST00000566549.1_Missense_Mutation_p.M524I	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	532					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCACGTTCATGAAGCTGCGGA	0.692																																							uc002cjw.1		NA																	0				pancreas(1)	1						c.(1594-1596)ATG>ATC		mesothelin isoform 2 preproprotein							79.0	80.0	80.0					16																	817446		2188	4285	6473	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:817446G>C	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1596G>C	16.37:g.817446G>C	ENSP00000372313:p.Met532Ile					MSLN_uc002cjt.1_Missense_Mutation_p.M524I|MSLN_uc002cju.1_Missense_Mutation_p.M524I|MSLN_uc010brd.1_Missense_Mutation_p.M523I|MSLN_uc002cjv.1_Missense_Mutation_p.M524I|MSLN_uc002cjx.1_Missense_Mutation_p.M524I|MSLN_uc002cjy.1_Missense_Mutation_p.M189I|MIR662_hsa-mir-662|MI0003670_5'Flank	p.M532I	NM_013404	NP_037536	Q13421	MSLN_HUMAN			15	1647	+		Hepatocellular(780;0.00335)	532					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.1596G>C	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	2.072	-0.412782	0.04799	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.11495	2.77;2.77	4.89	3.86	0.44501	.	0.441651	0.23627	N	0.046173	T	0.07773	0.0195	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.10450	0.003;0.005;0.003;0.003	T	0.28933	-1.0028	10	0.18710	T	0.47	-22.8497	12.0227	0.53352	0.0:0.1746:0.8254:0.0	.	523;532;524;524	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	I	532;524;524;532	ENSP00000442965:M524I;ENSP00000372313:M532I	ENSP00000372313:M532I	M	+	3	0	MSLN	757447	0.992000	0.36948	0.061000	0.19648	0.052000	0.14988	4.135000	0.57997	2.420000	0.82092	0.536000	0.68110	ATG		0.692	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			4	141	0	0	0	0.000602	0	4	141				
PDPK1	5170	broad.mit.edu	37	16	2636732	2636732	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:2636732C>T	ENST00000342085.4	+	11	1330	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	PDPK1_ENST00000354836.5_Missense_Mutation_p.S370L|PDPK1_ENST00000268673.7_Missense_Mutation_p.S267L|PDPK1_ENST00000441549.3_Missense_Mutation_p.S394L|PDPK1_ENST00000389224.3_Missense_Mutation_p.S367L	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	394	Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TCCTCCTCCTCACACTCCCTG	0.552																																							uc002cqs.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1180-1182)TCA>TTA		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)						122.0	105.0	111.0					16																	2636732		2198	4300	6498	SO:0001583	missense	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2636732C>T	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1181C>T	16.37:g.2636732C>T	ENSP00000344220:p.Ser394Leu					PDPK1_uc002cqt.2_Missense_Mutation_p.S267L|PDPK1_uc010bsn.2_Missense_Mutation_p.S394L|PDPK1_uc002cqu.2_Missense_Mutation_p.S367L	p.S394L	NM_002613	NP_002604	O15530	PDPK1_HUMAN			11	1325	+		Ovarian(90;0.17)	394			Poly-Ser.		H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	ENST00000342085.4	37	c.1181C>T	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265658	0.23136	.	.	ENSG00000140992	ENST00000342085;ENST00000441549;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.64085	1.88;1.86;-0.08;1.88	5.05	1.85	0.25348	.	0.211148	0.41605	D	0.000855	T	0.47097	0.1427	L	0.36672	1.1	0.50313	D	0.999862	B;B;B	0.20887	0.049;0.034;0.009	B;B;B	0.19666	0.026;0.022;0.013	T	0.28808	-1.0032	10	0.20519	T	0.43	-14.3951	10.2889	0.43584	0.0:0.7161:0.2079:0.0759	.	432;267;394	Q59EH6;O15530-4;O15530	.;.;PDPK1_HUMAN	L	394;432;267;370;367	ENSP00000344220:S394L;ENSP00000268673:S267L;ENSP00000346895:S370L;ENSP00000373876:S367L	ENSP00000268673:S267L	S	+	2	0	PDPK1	2576733	1.000000	0.71417	0.992000	0.48379	0.185000	0.23345	3.518000	0.53451	0.690000	0.31570	0.655000	0.94253	TCA		0.552	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			4	123	0	0	0	0.000602	0	4	123				
NUBP1	4682	broad.mit.edu	37	16	10851880	10851880	+	Missense_Mutation	SNP	C	C	T	rs148166867		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:10851880C>T	ENST00000283027.5	+	7	621	c.602C>T	c.(601-603)cCc>cTc	p.P201L	NUBP1_ENST00000433392.2_Missense_Mutation_p.P190L|NUBP1_ENST00000571790.1_3'UTR|TVP23A_ENST00000572980.1_5'Flank	NM_002484.2	NP_002475.2			nucleotide binding protein 1									p.P201L(1)		large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						ATCACCACTCCCCAGGTGAGC	0.577																																							uc002daa.1		NA																	1	Substitution - Missense(1)	p.P201L(1)	skin(1)	ovary(1)|skin(1)	2						c.(601-603)CCC>CTC		nucleotide binding protein 1							66.0	59.0	61.0					16																	10851880		2197	4300	6497	SO:0001583	missense	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10851880C>T	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.602C>T	16.37:g.10851880C>T	ENSP00000283027:p.Pro201Leu					NUBP1_uc010bum.1_Missense_Mutation_p.P66L|NUBP1_uc002dab.1_Missense_Mutation_p.P190L	p.P201L	NM_002484	NP_002475	P53384	NUBP1_HUMAN			7	625	+			201						Missense_Mutation	SNP	ENST00000283027.5	37	c.602C>T	CCDS10543.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529943	0.64860	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.51071	0.72;0.72	5.14	4.19	0.49359	ATPase, AAA+ type, core (1);	0.055211	0.85682	D	0.000000	T	0.80407	0.4617	H	0.99299	4.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86099	0.1555	10	0.87932	D	0	.	11.2349	0.48933	0.0:0.915:0.0:0.085	.	190;201	P53384-2;P53384	.;NUBP1_HUMAN	L	201;190	ENSP00000283027:P201L;ENSP00000409654:P190L	ENSP00000283027:P201L	P	+	2	0	NUBP1	10759381	1.000000	0.71417	0.055000	0.19348	0.462000	0.32619	6.980000	0.76160	1.158000	0.42547	0.561000	0.74099	CCC		0.577	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		16	64	0	0	0	0.00499	0	16	64				
ERCC4	2072	broad.mit.edu	37	16	14015915	14015915	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:14015915G>A	ENST00000311895.7	+	2	244	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	ERCC4_ENST00000575156.1_Missense_Mutation_p.E79K	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	79	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCTGAAGATAGAAGGAGTTGA	0.358			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc002dce.2		NA	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(235-237)GAA>AAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							82.0	70.0	74.0					16																	14015915		2197	4300	6497	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14015915G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.235G>A	16.37:g.14015915G>A	ENSP00000310520:p.Glu79Lys					ERCC4_uc010bva.2_Missense_Mutation_p.E79K	p.E79K	NM_005236	NP_005227	Q92889	XPF_HUMAN			2	244	+			79					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.235G>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463334	0.43736	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.25912	1.77	5.33	4.36	0.52297	.	0.190379	0.53938	D	0.000041	T	0.15609	0.0376	L	0.27975	0.815	0.54753	D	0.999984	P;B	0.41848	0.763;0.011	B;B	0.36608	0.229;0.027	T	0.02781	-1.1111	10	0.07482	T	0.82	-11.7826	14.3791	0.66900	0.0:0.0:0.851:0.149	.	79;79	A5PKV6;Q92889	.;XPF_HUMAN	K	79;68;68	ENSP00000310520:E79K	ENSP00000310520:E79K	E	+	1	0	ERCC4	13923416	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.417000	0.97391	1.201000	0.43203	0.655000	0.94253	GAA		0.358	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		6	26	0	0	0	0.001984	0	6	26				
ERCC4	2072	broad.mit.edu	37	16	14029376	14029376	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:14029376T>G	ENST00000311895.7	+	8	1596	c.1587T>G	c.(1585-1587)atT>atG	p.I529M	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	529			I -> T (in XP-F). {ECO:0000269|PubMed:9580660}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CGGAAGAAATTAAGCATGAAG	0.458			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														uc002dce.2		NA	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1585-1587)ATT>ATG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							63.0	66.0	65.0					16																	14029376		2197	4300	6497	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029376T>G	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1587T>G	16.37:g.14029376T>G	ENSP00000310520:p.Ile529Met					ERCC4_uc010uyz.1_Missense_Mutation_p.I79M	p.I529M	NM_005236	NP_005227	Q92889	XPF_HUMAN			8	1596	+			529		I -> T (in XP-F).			A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1587T>G	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426595	0.25726	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.60424	0.19	5.51	-11.0	0.00169	.	1.130820	0.06434	N	0.724757	T	0.39733	0.1089	L	0.57536	1.79	0.09310	N	1	P	0.35600	0.511	B	0.31751	0.135	T	0.11324	-1.0592	10	0.36615	T	0.2	-0.9186	3.2141	0.06692	0.178:0.3703:0.2818:0.1699	.	529	Q92889	XPF_HUMAN	M	529;518	ENSP00000310520:I529M	ENSP00000310520:I529M	I	+	3	3	ERCC4	13936877	0.000000	0.05858	0.000000	0.03702	0.827000	0.46813	-3.675000	0.00396	-2.446000	0.00546	0.533000	0.62120	ATT		0.458	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		3	87	0	0	0	0.004672	0	3	87				
NTAN1	123803	broad.mit.edu	37	16	15141948	15141948	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:15141948G>T	ENST00000287706.3	-	2	182	c.90C>A	c.(88-90)gcC>gcA	p.A30A	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	30					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						TGAGAAGTCTGGCTCTTTCCT	0.438																																							uc002ddd.2		NA																	0					0						c.(88-90)GCC>GCA		N-terminal Asn amidase							78.0	81.0	80.0					16																	15141948		2197	4300	6497	SO:0001819	synonymous_variant	123803					cytoplasm		g.chr16:15141948G>T	AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.90C>A	16.37:g.15141948G>T						PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Intron	p.A30A	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN			2	95	-			30					Q7Z4Z0	Silent	SNP	ENST00000287706.3	37	c.90C>A	CCDS10558.1																																																																																				0.438	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474		23	56	1	0	1.22574e-08	0.014323	1.63104e-08	23	56				
GPR139	124274	broad.mit.edu	37	16	20043438	20043438	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:20043438G>T	ENST00000570682.1	-	2	981	c.681C>A	c.(679-681)acC>acA	p.T227T		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	227					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ACAAGATGGCGGTGGTCTTCC	0.522																																							uc002dgu.1		NA																	0				ovary(2)	2						c.(679-681)ACC>ACA		G protein-coupled receptor 139							85.0	89.0	87.0					16																	20043438		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043438G>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.681C>A	16.37:g.20043438G>T						GPR139_uc010vaw.1_Silent_p.T134T	p.T227T	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	843	-			227			Cytoplasmic (Potential).		A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.681C>A	CCDS32398.1																																																																																				0.522	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		10	85	1	0	6.72482e-11	0.003163	9.67861e-11	10	85				
ACSM1	116285	broad.mit.edu	37	16	20696590	20696590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:20696590G>A	ENST00000307493.4	-	2	395	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	ACSM1_ENST00000520010.1_Nonsense_Mutation_p.Q110*|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	110					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGTCTCCCTGTTGTAGGCCA	0.572																																							uc002dhm.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(328-330)CAG>TAG		acyl-CoA synthetase medium-chain family member							219.0	166.0	184.0					16																	20696590		2201	4300	6501	SO:0001587	stop_gained	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20696590G>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.328C>T	16.37:g.20696590G>A	ENSP00000301956:p.Gln110*					ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Nonsense_Mutation_p.Q110*	p.Q110*	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			2	396	-			110					Q08AH2|Q96A20	Nonsense_Mutation	SNP	ENST00000307493.4	37	c.328C>T	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	G	6.651	0.488628	0.12641	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	.	.	.	4.38	-0.1	0.13621	.	1.130040	0.06856	N	0.798287	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	9.8712	0.41175	0.0:0.1215:0.3392:0.5392	.	.	.	.	X	110	.	ENSP00000301956:Q110X	Q	-	1	0	ACSM1	20604091	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.509000	0.22707	-0.143000	0.11334	0.609000	0.83330	CAG		0.572	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		12	99	0	0	0	0.00245	0	12	99				
DNAH3	55567	broad.mit.edu	37	16	21145668	21145668	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:21145668C>T	ENST00000261383.3	-	7	993	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	DNAH3_ENST00000415178.1_Missense_Mutation_p.V332I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	332	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCCTGTAGACACTGTGCCAG	0.542																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(994-996)GTC>ATC		dynein, axonemal, heavy chain 3							107.0	104.0	105.0					16																	21145668		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145668C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.994G>A	16.37:g.21145668C>T	ENSP00000261383:p.Val332Ile					DNAH3_uc002die.2_Missense_Mutation_p.V303I	p.V332I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	7	994	-			332			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.994G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387700	0.42308	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.21932	1.98;2.15	5.85	0.622	0.17648	.	2.261180	0.01695	N	0.026891	T	0.18593	0.0446	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.18493	-1.0335	10	0.38643	T	0.18	.	4.7403	0.13010	0.1446:0.4092:0.0:0.4462	.	332;303	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	I	332;332;303	ENSP00000261383:V332I;ENSP00000394245:V332I	ENSP00000261383:V332I	V	-	1	0	DNAH3	21053169	0.000000	0.05858	0.001000	0.08648	0.990000	0.78478	-0.628000	0.05515	0.105000	0.17753	0.655000	0.94253	GTC		0.542	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		28	143	0	0	0	0.012213	0	28	143				
OTOA	146183	broad.mit.edu	37	16	21728345	21728345	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:21728345G>T	ENST00000286149.4	+	14	1649	c.1648G>T	c.(1648-1650)Gat>Tat	p.D550Y	OTOA_ENST00000388958.3_Missense_Mutation_p.D536Y|OTOA_ENST00000388957.3_Missense_Mutation_p.D212Y|OTOA_ENST00000388956.4_Missense_Mutation_p.D457Y			Q7RTW8	OTOAN_HUMAN	otoancorin	550					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGTCCTGAAGGATAAGGAACT	0.438																																							uc002djh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1606-1608)GAT>TAT		otoancorin isoform 1							113.0	111.0	111.0					16																	21728345		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21728345G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1648G>T	16.37:g.21728345G>T	ENSP00000286149:p.Asp550Tyr					uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.D457Y|OTOA_uc002dji.2_Missense_Mutation_p.D212Y|OTOA_uc010vbk.1_Missense_Mutation_p.D184Y	p.D536Y	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	14	1607	+			550					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1606G>T		.	.	.	.	.	.	.	.	.	.	G	16.93	3.257082	0.59321	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.38	5.38	0.77491	.	0.337858	0.31673	N	0.007241	T	0.75627	0.3875	N	0.19112	0.55	0.31580	N	0.655192	P;P;P;P	0.41265	0.744;0.744;0.623;0.744	P;P;B;P	0.45856	0.495;0.495;0.292;0.495	T	0.80455	-0.1375	10	0.62326	D	0.03	-1.1957	16.6552	0.85226	0.0:0.0:1.0:0.0	.	550;457;212;536	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	Y	536;550;457;212	ENSP00000373610:D536Y;ENSP00000286149:D550Y;ENSP00000373608:D457Y;ENSP00000373609:D212Y	ENSP00000286149:D550Y	D	+	1	0	OTOA	21635846	1.000000	0.71417	0.527000	0.27925	0.901000	0.52897	6.216000	0.72212	2.507000	0.84556	0.655000	0.94253	GAT		0.438	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			19	62	1	0	1.90627e-21	0.012319	3.30606e-21	19	62				
SCNN1B	6338	broad.mit.edu	37	16	23359988	23359988	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:23359988A>T	ENST00000343070.2	+	2	244	c.68A>T	c.(67-69)aAg>aTg	p.K23M	SCNN1B_ENST00000568923.1_Missense_Mutation_p.K23M|SCNN1B_ENST00000568085.1_Missense_Mutation_p.K23M|SCNN1B_ENST00000307331.5_Missense_Mutation_p.K68M|SCNN1B_ENST00000569789.1_3'UTR	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	23					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TACACGTACAAGGAGCTGCTG	0.602																																							uc002dln.2		NA																	0				ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7						c.(67-69)AAG>ATG		sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)						66.0	57.0	60.0					16																	23359988		2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23359988A>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.68A>T	16.37:g.23359988A>T	ENSP00000345751:p.Lys23Met						p.K23M	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	2	244	+			23			Cytoplasmic (By similarity).		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.68A>T	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.827378	0.71143	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.73047	-0.68;-0.71	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000001	T	0.78691	0.4323	L	0.42245	1.32	0.46044	D	0.998839	D	0.89917	1.0	D	0.85130	0.997	T	0.80991	-0.1135	10	0.87932	D	0	-5.3735	13.7283	0.62771	1.0:0.0:0.0:0.0	.	23	P51168	SCNNB_HUMAN	M	23;68	ENSP00000345751:K23M;ENSP00000302874:K68M	ENSP00000302874:K68M	K	+	2	0	SCNN1B	23267489	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.906000	0.56340	1.831000	0.53308	0.459000	0.35465	AAG		0.602	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			10	36	0	0	0	0.008291	0	10	36				
PRKCB	5579	broad.mit.edu	37	16	24202491	24202491	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:24202491G>T	ENST00000321728.7	+	16	1978	c.1803G>T	c.(1801-1803)cgG>cgT	p.R601R	PRKCB_ENST00000303531.7_Silent_p.R601R	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	601	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CATTTTTCCGGTATATTGATT	0.463																																							uc002dmd.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1801-1803)CGG>CGT		protein kinase C, beta isoform 1	Vitamin E(DB00163)						121.0	119.0	120.0					16																	24202491		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24202491G>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1803G>T	16.37:g.24202491G>T						PRKCB_uc002dme.2_Silent_p.R601R	p.R601R	NM_212535	NP_997700	P05771	KPCB_HUMAN			16	2000	+			601			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1803G>T	CCDS10618.1																																																																																				0.463	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		13	63	1	0	7.93312e-07	0.00245	9.80113e-07	13	63				
SEZ6L2	26470	broad.mit.edu	37	16	29909229	29909229	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:29909229A>T	ENST00000308713.5	-	2	683	c.156T>A	c.(154-156)gcT>gcA	p.A52A	SEZ6L2_ENST00000350527.3_Silent_p.A52A|SEZ6L2_ENST00000537485.1_Intron|ASPHD1_ENST00000308748.5_5'Flank|SEZ6L2_ENST00000346932.5_Silent_p.A52A|SEZ6L2_ENST00000562159.1_5'UTR|ASPHD1_ENST00000483405.1_5'Flank	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	52					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGCAGTTCAGCCAGGGCCT	0.637																																							uc002duq.3		NA																	0				ovary(1)|skin(1)	2						c.(154-156)GCT>GCA		seizure related 6 homolog (mouse)-like 2 isoform							56.0	60.0	58.0					16																	29909229		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29909229A>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.156T>A	16.37:g.29909229A>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.A52A|SEZ6L2_uc002dur.3_Silent_p.A52A|SEZ6L2_uc002dus.3_Silent_p.A52A|SEZ6L2_uc010vec.1_Silent_p.A52A|SEZ6L2_uc010ved.1_Intron|ASPHD1_uc002dut.2_5'Flank|ASPHD1_uc002duu.3_5'Flank|ASPHD1_uc010bzi.2_5'Flank	p.A52A	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			2	396	-			52			Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.156T>A	CCDS10659.1																																																																																				0.637	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		15	48	0	0	0	0.004007	0	15	48				
SEPT1	1731	broad.mit.edu	37	16	30390500	30390500	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:30390500C>T	ENST00000571393.1	-	10	951	c.765G>A	c.(763-765)gaG>gaA	p.E255E	SEPT1_ENST00000605106.1_Silent_p.E260E|SEPT1_ENST00000321367.3_Silent_p.E302E			Q8WYJ6	SEPT1_HUMAN	septin 1	255	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GATGTGGGTTCTCCACTGGAG	0.617																																							uc002dxy.2		NA																	0				ovary(1)	1						c.(763-765)GAG>GAA		septin 1							43.0	48.0	46.0					16																	30390500		2197	4300	6497	SO:0001819	synonymous_variant	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30390500C>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.765G>A	16.37:g.30390500C>T						SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Silent_p.E80E	p.E255E	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		10	952	-			255					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	ENST00000571393.1	37	c.765G>A																																																																																					0.617	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		4	72	0	0	0	0.009096	0	4	72				
ITGAM	3684	broad.mit.edu	37	16	31282309	31282309	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:31282309G>T	ENST00000287497.8	+	6	537	c.462G>T	c.(460-462)ttG>ttT	p.L154F	ITGAM_ENST00000544665.3_Missense_Mutation_p.L154F			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	154	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTGCCTTCTTGATTGATGGCT	0.433																																							uc002ebq.2		NA																	0				kidney(1)	1						c.(460-462)TTG>TTT		integrin alpha M isoform 2 precursor							232.0	216.0	221.0					16																	31282309		1945	4151	6096	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31282309G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.462G>T	16.37:g.31282309G>T	ENSP00000287497:p.Leu154Phe					ITGAM_uc002ebr.2_Missense_Mutation_p.L154F	p.L154F	NM_000632	NP_000623	P11215	ITAM_HUMAN			6	560	+			154			VWFA.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.462G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367293	0.61513	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.87256	-2.23;-2.23	5.5	2.15	0.27550	von Willebrand factor, type A (3);	.	.	.	.	D	0.94215	0.8143	H	0.95224	3.64	0.39081	D	0.960919	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.997	D	0.93291	0.6668	9	0.87932	D	0	.	7.5695	0.27898	0.1203:0.2379:0.6418:0.0	.	154;154	Q4VAK1;P11215	.;ITAM_HUMAN	F	154	ENSP00000441691:L154F;ENSP00000287497:L154F	ENSP00000287497:L154F	L	+	3	2	ITGAM	31189810	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	0.887000	0.28254	0.748000	0.32831	-0.459000	0.05422	TTG		0.433	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		36	205	1	0	2.00842e-17	0.010771	3.32331e-17	36	205				
ITGAX	3687	broad.mit.edu	37	16	31388167	31388167	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:31388167A>T	ENST00000268296.4	+	21	2677	c.2556A>T	c.(2554-2556)ccA>ccT	p.P852P	ITGAX_ENST00000562522.1_Silent_p.P852P	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	852					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACAGCGCCCCAGTTGGGAGCC	0.562																																							uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2554-2556)CCA>CCT		integrin alpha X precursor							67.0	66.0	67.0					16																	31388167		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31388167A>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2556A>T	16.37:g.31388167A>T						ITGAX_uc002ebt.2_Silent_p.P852P	p.P852P	NM_000887	NP_000878	P20702	ITAX_HUMAN			21	2623	+			852			Extracellular (Potential).		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.2556A>T	CCDS10711.1																																																																																				0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		14	60	0	0	0	0.003163	0	14	60				
ZNF267	10308	broad.mit.edu	37	16	31885291	31885291	+	Splice_Site	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:31885291G>A	ENST00000300870.10	+	1	212		c.e1+1		ZNF267_ENST00000394846.3_Splice_Site	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CTGGGAAATGGTGAGTGTGCG	0.647																																							uc002ecs.3		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.e1+1		zinc finger protein 267							46.0	48.0	47.0					16																	31885291		2197	4300	6497	SO:0001630	splice_region_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31885291G>A	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.3+1G>A	16.37:g.31885291G>A							p.M1_splice	NM_003414	NP_003405	Q14586	ZN267_HUMAN			1	212	+								A0JNZ9|Q8NE41|Q9NRJ0	Splice_Site	SNP	ENST00000300870.10	37	c.3_splice	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	g	8.759	0.923048	0.18056	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	.	.	.	0.775	0.775	0.18527	.	.	.	.	.	.	.	.	.	.	.	0.31497	N	0.665289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8523	0.13543	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF267	31792792	0.296000	0.24398	0.153000	0.22517	0.226000	0.24999	0.513000	0.22770	0.701000	0.31803	0.491000	0.48974	.		0.647	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	Intron	14	86	0	0	0	0.008871	0	14	86				
Unknown	0	broad.mit.edu	37	16	33784689	33784689	+	IGR	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:33784689G>C								RP11-812E19.3 (6945 upstream) : AC136932.2 (161259 downstream)																							ACTACGAGCCGCTGGTCTACA	0.637																																							uc010vgb.1		NA																	0					NA						c.(76-78)CCG>CCC		RecName: Full=Transporter;																																				SO:0001628	intergenic_variant	0							g.chr16:33784689G>C																													16.37:g.33784689G>C							p.P26P							2	98	+									Silent	SNP		37	c.78G>C																																																																																				0	0.637									5	112	0	0	0	0.00308	0	5	112				
Unknown	0	broad.mit.edu	37	16	33784709	33784709	+	IGR	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:33784709A>T								RP11-812E19.3 (6965 upstream) : AC136932.2 (161239 downstream)																							AACAACACCAACGTGTACCCG	0.617																																							uc010vgb.1		NA																	0					NA						c.(97-99)AAC>ATC		RecName: Full=Transporter;																																				SO:0001628	intergenic_variant	0							g.chr16:33784709A>T																													16.37:g.33784709A>T							p.N33I							2	118	+									Missense_Mutation	SNP		37	c.98A>T		.	.	.	.	.	.	.	.	.	.	.	4.767	0.142534	0.09083	.	.	ENSG00000198555	ENST00000359871	.	.	.	2.12	2.12	0.27331	.	0.000000	0.64402	U	0.000008	T	0.28034	0.0691	.	.	.	.	.	.	B	0.22746	0.074	B	0.17098	0.017	T	0.26744	-1.0094	6	.	.	.	.	8.1642	0.31217	1.0:0.0:0.0:0.0	.	85	F8WED4	.	I	85	.	.	N	+	2	0	AC133561.1	33692210	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	6.961000	0.76042	1.231000	0.43661	0.163000	0.16589	AAC	0	0.617									9	96	0	0	0	0.010729	0	9	96				
GPT2	84706	broad.mit.edu	37	16	46958355	46958355	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:46958355C>A	ENST00000340124.4	+	10	1379	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	GPT2_ENST00000440783.2_Missense_Mutation_p.L323M	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	423					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GACGGAAGACCTGTTTAACCA	0.517																																							uc002eel.2		NA																	0				ovary(1)|skin(1)	2						c.(1267-1269)CTG>ATG		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						117.0	102.0	107.0					16																	46958355		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46958355C>A		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1267C>A	16.37:g.46958355C>A	ENSP00000345282:p.Leu423Met					GPT2_uc002eem.2_Missense_Mutation_p.L323M|GPT2_uc002een.2_Missense_Mutation_p.L66M	p.L423M	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			10	1361	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	423					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.1267C>A	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482336	0.26598	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.23552	1.92;1.9	4.51	0.255	0.15561	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.363922	0.27437	N	0.019380	T	0.11665	0.0284	N	0.14661	0.345	0.36845	D	0.88761	B;B	0.09022	0.002;0.002	B;B	0.16289	0.009;0.015	T	0.08534	-1.0717	10	0.42905	T	0.14	.	4.3346	0.11080	0.5086:0.2564:0.0:0.235	.	323;423	Q8TD30-2;Q8TD30	.;ALAT2_HUMAN	M	423;323	ENSP00000345282:L423M;ENSP00000413804:L323M	ENSP00000345282:L423M	L	+	1	2	GPT2	45515856	0.000000	0.05858	0.999000	0.59377	0.986000	0.74619	-0.574000	0.05868	0.225000	0.20959	0.655000	0.94253	CTG		0.517	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			15	62	1	0	8.60227e-14	0.004007	1.32061e-13	15	62				
NETO2	81831	broad.mit.edu	37	16	47117479	47117479	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:47117479C>A	ENST00000562435.1	-	9	1615	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	NETO2_ENST00000303155.5_Missense_Mutation_p.D404Y	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	411					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TCTGCCAGGTCTGCAGAAATC	0.512										HNSCC(25;0.065)																													uc002eer.1		NA																	0					0						c.(1231-1233)GAC>TAC		neuropilin- and tolloid-like protein 2							76.0	77.0	77.0					16																	47117479		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47117479C>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1231G>T	16.37:g.47117479C>A	ENSP00000455169:p.Asp411Tyr	HNSCC(25;0.065)				NETO2_uc002eeq.1_Missense_Mutation_p.D146Y|NETO2_uc010vgf.1_Missense_Mutation_p.D268Y	p.D411Y	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN			9	1616	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	411			Cytoplasmic (Potential).		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.1231G>T	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493027	0.84962	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.78	5.78	0.91487	.	0.043864	0.85682	D	0.000000	T	0.77678	0.4166	M	0.62723	1.935	0.80722	D	1	D;P;D	0.76494	0.999;0.948;0.998	D;P;D	0.65987	0.94;0.62;0.935	T	0.78473	-0.2190	9	0.87932	D	0	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	268;411;87	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	Y	411	.	ENSP00000306726:D411Y	D	-	1	0	NETO2	45674980	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.807000	0.86032	2.749000	0.94314	0.655000	0.94253	GAC		0.512	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		9	50	1	0	0.00448238	0.004482	0.00485104	9	50				
ZNF423	23090	broad.mit.edu	37	16	49764838	49764838	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:49764838C>A	ENST00000561648.1	-	3	174	c.121G>T	c.(121-123)Gcg>Tcg	p.A41S	ZNF423_ENST00000262383.2_Missense_Mutation_p.A41S|ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	41					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTTCCAGCGCACGGCTGGTT	0.502																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(121-123)GCG>TCG		zinc finger protein 423							341.0	288.0	306.0					16																	49764838		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49764838C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.121G>T	16.37:g.49764838C>A	ENSP00000455426:p.Ala41Ser						p.A41S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			4	419	-		all_cancers(37;0.0155)	41					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.121G>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937575	0.34189	.	.	ENSG00000102935	ENST00000262383	T	0.08720	3.06	4.97	3.95	0.45737	.	0.640994	0.14392	N	0.322454	T	0.04092	0.0114	N	0.08118	0	0.33825	D	0.629573	B	0.02656	0.0	B	0.04013	0.001	T	0.28004	-1.0057	9	.	.	.	.	8.0846	0.30765	0.1588:0.761:0.0:0.0803	.	41	Q2M1K9	ZN423_HUMAN	S	41	ENSP00000262383:A41S	.	A	-	1	0	ZNF423	48322339	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.833000	0.55790	2.451000	0.82905	0.205000	0.17691	GCG		0.502	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		28	213	1	0	1.30897e-18	0.009535	2.20556e-18	28	213				
CYLD	1540	broad.mit.edu	37	16	50818357	50818357	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:50818357G>C	ENST00000427738.3	+	11	2149	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	CYLD_ENST00000398568.2_Silent_p.L645L|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000540145.1_Silent_p.L648L|CYLD_ENST00000566206.1_Silent_p.L645L|CYLD_ENST00000568704.2_Silent_p.L463L|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000311559.9_Silent_p.L648L|CYLD_ENST00000569418.1_Silent_p.L645L|CYLD_ENST00000564326.1_Silent_p.L645L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	648	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTAATCCTCTGAGAATGTAAG	0.333			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(1942-1944)CTG>CTC		ubiquitin carboxyl-terminal hydrolase CYLD							95.0	88.0	90.0					16																	50818357		1834	4086	5920	SO:0001819	synonymous_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50818357G>C	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1944G>C	16.37:g.50818357G>C						CYLD_uc002ego.2_Silent_p.L645L|CYLD_uc010cbs.1_Silent_p.L645L|CYLD_uc002egq.1_Silent_p.L645L|CYLD_uc002egr.1_Silent_p.L645L|CYLD_uc002egs.1_Silent_p.L645L	p.L648L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			12	2359	+		all_cancers(37;0.0156)	648					O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	c.1944G>C	CCDS45482.1																																																																																				0.333	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			7	41	0	0	0	0.006214	0	7	41				
NLRC5	84166	broad.mit.edu	37	16	57073725	57073725	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:57073725C>G	ENST00000262510.6	+	16	3059	c.2834C>G	c.(2833-2835)gCc>gGc	p.A945G	NLRC5_ENST00000308149.7_Missense_Mutation_p.A945G|NLRC5_ENST00000539144.1_Missense_Mutation_p.A945G|NLRC5_ENST00000436936.1_Missense_Mutation_p.A945G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	945					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTCATGTTTGCCCAGGAGCCA	0.532																																							uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(2833-2835)GCC>GGC		nucleotide-binding oligomerization domains 27							115.0	117.0	116.0					16																	57073725		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57073725C>G	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2834C>G	16.37:g.57073725C>G	ENSP00000262510:p.Ala945Gly					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.A694G|NLRC5_uc002ekl.2_Missense_Mutation_p.A750G|NLRC5_uc002ekm.2_Missense_Mutation_p.A750G|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_5'Flank|NLRC5_uc002ekp.1_5'Flank	p.A945G	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			16	3059	+		all_neural(199;0.225)	945			LRR 7.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2834C>G	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.49|14.49	2.550812|2.550812	0.45383|0.45383	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.76448|.	-0.98;-1.0;-1.02;-1.0;2.11;1.96|.	4.59|4.59	2.63|2.63	0.31362|0.31362	.|.	0.683570|.	0.11716|.	N|.	0.536373|.	T|T	0.45975|0.45975	0.1369|0.1369	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	D;D;D;P|.	0.89917|.	0.998;0.999;1.0;0.897|.	D;D;D;P|.	0.87578|.	0.961;0.958;0.998;0.71|.	T|T	0.34254|0.34254	-0.9836|-0.9836	10|5	0.49607|.	T|.	0.09|.	.|.	6.4987|6.4987	0.22155|0.22155	0.0:0.721:0.1826:0.0964|0.0:0.721:0.1826:0.0964	.|.	945;945;945;945|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	G|W	945;945;945;419;945;452;244|697	ENSP00000262510:A945G;ENSP00000308886:A945G;ENSP00000389739:A945G;ENSP00000441727:A945G;ENSP00000441597:A452G;ENSP00000440153:A244G|.	ENSP00000262510:A945G|.	A|C	+|+	2|3	0|2	NLRC5|NLRC5	55631226|55631226	0.983000|0.983000	0.35010|0.35010	0.098000|0.098000	0.21074|0.21074	0.009000|0.009000	0.06853|0.06853	1.829000|1.829000	0.39121|0.39121	0.852000|0.852000	0.35287|0.35287	-0.181000|-0.181000	0.13052|0.13052	GCC|TGC		0.532	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		25	129	0	0	0	0.007291	0	25	129				
POLR2C	5432	broad.mit.edu	37	16	57505025	57505025	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:57505025A>T	ENST00000219252.5	+	9	1160	c.822A>T	c.(820-822)atA>atT	p.I274I		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	274					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TGCTAACCATAAATTAACTGC	0.453																																							uc002elt.1		NA																	0					0						c.(820-822)ATA>ATT		DNA directed RNA polymerase II polypeptide C							79.0	73.0	75.0					16																	57505025		2198	4300	6498	SO:0001819	synonymous_variant	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57505025A>T		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.822A>T	16.37:g.57505025A>T							p.I274I	NM_032940	NP_116558	P19387	RPB3_HUMAN			9	908	+			274					O15161	Silent	SNP	ENST00000219252.5	37	c.822A>T	CCDS10782.1																																																																																				0.453	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		15	56	0	0	0	0.006122	0	15	56				
KCTD19	146212	broad.mit.edu	37	16	67327654	67327654	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:67327654G>T	ENST00000304372.5	-	12	2066	c.2011C>A	c.(2011-2013)Ccc>Acc	p.P671T		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	671					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTTCCCAAGGGGAGCTGCAGG	0.617																																							uc002esu.2		NA																	0				skin(1)	1						c.(2011-2013)CCC>ACC		potassium channel tetramerisation domain							78.0	88.0	84.0					16																	67327654		2082	4203	6285	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327654G>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2011C>A	16.37:g.67327654G>T	ENSP00000305702:p.Pro671Thr					KCTD19_uc002est.2_Missense_Mutation_p.P443T|KCTD19_uc010vjj.1_Missense_Mutation_p.P414T	p.P671T	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2062	-		Ovarian(137;0.192)	671					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2011C>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749692	0.30955	.	.	ENSG00000168676	ENST00000304372	T	0.59224	0.28	5.86	2.63	0.31362	.	0.504726	0.18362	N	0.143540	T	0.38374	0.1038	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27123	-1.0083	10	0.51188	T	0.08	-8.2427	7.198	0.25864	0.079:0.0:0.6194:0.3016	.	671	Q17RG1	KCD19_HUMAN	T	671	ENSP00000305702:P671T	ENSP00000305702:P671T	P	-	1	0	KCTD19	65885155	0.086000	0.21541	0.956000	0.39512	0.979000	0.70002	0.852000	0.27764	0.795000	0.33922	0.563000	0.77884	CCC		0.617	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		22	84	1	0	9.95505e-16	0.014323	1.60872e-15	22	84				
TSNAXIP1	55815	broad.mit.edu	37	16	67854847	67854847	+	Silent	SNP	C	C	A	rs373398036		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:67854847C>A	ENST00000388833.3	+	3	468	c.91C>A	c.(91-93)Cga>Aga	p.R31R	TSNAXIP1_ENST00000561639.1_Silent_p.R85R|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Intron	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CTACCGGAAGCGAGTAGGGTA	0.592																																							uc002euj.2		NA																	0					0						c.(91-93)CGA>AGA		translin-associated factor X interacting protein							133.0	135.0	134.0					16																	67854847		1978	4140	6118	SO:0001819	synonymous_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67854847C>A	AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.91C>A	16.37:g.67854847C>A						TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.3_Intron|TSNAXIP1_uc010vka.1_Silent_p.R85R|TSNAXIP1_uc010vkb.1_Intron|TSNAXIP1_uc002eug.3_Intron|TSNAXIP1_uc002euh.3_Intron|TSNAXIP1_uc002eui.3_Intron|TSNAXIP1_uc002euk.2_5'Flank	p.R31R	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	3	485	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	31						Silent	SNP	ENST00000388833.3	37	c.91C>A	CCDS10846.2																																																																																				0.592	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430		48	165	1	0	1.89013e-27	0.01441	3.36248e-27	48	165				
NPIPB15	440348	broad.mit.edu	37	16	74425572	74425572	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:74425572C>T	ENST00000429990.1	+	7	1022	c.926C>T	c.(925-927)tCt>tTt	p.S309F				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	309	Pro-rich.					extracellular region (GO:0005576)											CTTCCACCCTCTCCTCTTCCA	0.498																																							uc010vmt.1		NA																	0					NA						c.(742-744)TCT>TTT		RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;							166.0	168.0	167.0					16																	74425572		2159	4272	6431	SO:0001583	missense	0							g.chr16:74425572C>T	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.926C>T	16.37:g.74425572C>T	ENSP00000411140:p.Ser309Phe						p.S248F							6	744	+								C9J9U8	Missense_Mutation	SNP	ENST00000429990.1	37	c.743C>T		.	.	.	.	.	.	.	.	.	.	-	9.783	1.175706	0.21704	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.53206	0.63	.	.	.	.	.	.	.	.	T	0.39937	0.1097	L	0.38175	1.15	0.09310	N	1	P	0.39759	0.687	B	0.43386	0.418	T	0.29701	-1.0003	6	0.72032	D	0.01	.	.	.	.	.	248	A6NHN6	NPPL2_HUMAN	F	187;309	ENSP00000411140:S309F	ENSP00000411140:S309F	S	+	2	0	NPIPL2	72983073	.	.	.	.	.	.	.	.	.	.	.	.	TCT		0.498	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		5	300	0	0	0	0.004482	0	5	300				
CNTNAP4	85445	broad.mit.edu	37	16	76592451	76592451	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:76592451G>T	ENST00000476707.1	+	23	3946	c.3807G>T	c.(3805-3807)caG>caT	p.Q1269H	RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q1193H|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.Q1265H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q1217H|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1266					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCATTTATCAGCAGAAAAGGT	0.363																																							uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(3796-3798)CAG>CAT		cell recognition protein CASPR4 isoform 1							84.0	83.0	83.0					16																	76592451		1948	4192	6140	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76592451G>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3807G>T	16.37:g.76592451G>T	ENSP00000417628:p.Gln1269His					CNTNAP4_uc002fev.1_Missense_Mutation_p.Q1130H|CNTNAP4_uc010chb.1_Missense_Mutation_p.Q1193H|CNTNAP4_uc002fex.1_Missense_Mutation_p.Q1269H	p.Q1266H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			26	4183	+			1266			Cytoplasmic (Potential).		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3798G>T		.	.	.	.	.	.	.	.	.	.	G	17.64	3.440262	0.63067	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.65	1.16	0.20824	.	0.000000	0.39020	N	0.001493	T	0.66665	0.2812	.	.	.	0.29405	N	0.861686	D;D;D	0.76494	0.998;0.999;0.993	D;D;P	0.67231	0.91;0.95;0.885	T	0.60692	-0.7213	9	0.72032	D	0.01	.	5.0944	0.14725	0.3232:0.1576:0.5192:0.0	.	1193;1269;1266	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	H	1265;1217;1193;1269	ENSP00000306893:Q1265H;ENSP00000439733:Q1217H;ENSP00000418741:Q1193H;ENSP00000417628:Q1269H	ENSP00000306893:Q1265H	Q	+	3	2	CNTNAP4	75149952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.387000	0.34430	0.439000	0.26476	0.655000	0.94253	CAG		0.363	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		10	39	1	0	0.00010058	0.013537	0.000113598	10	39				
NUDT7	283927	broad.mit.edu	37	16	77775776	77775776	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:77775776C>T	ENST00000268533.5	+	4	715	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000437314.3_Missense_Mutation_p.L163F|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	216					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.L216I(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TCAATTTAATCTTAATGATGT	0.378																																							uc010chd.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|kidney(1)	2						c.(646-648)CTT>TTT		nudix motif 7							63.0	58.0	60.0					16																	77775776		1821	4087	5908	SO:0001583	missense	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77775776C>T	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.646C>T	16.37:g.77775776C>T	ENSP00000268533:p.Leu216Phe					NUDT7_uc010vnj.1_Missense_Mutation_p.L163F	p.L216F	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN			4	715	+			216					B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	c.646C>T	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501341	0.26861	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.52526	1.26;0.66	5.4	3.34	0.38264	.	0.311183	0.30879	N	0.008690	T	0.52996	0.1769	M	0.66939	2.045	0.80722	D	1	D;P	0.59767	0.986;0.927	P;B	0.51895	0.683;0.332	T	0.54721	-0.8251	10	0.46703	T	0.11	-22.4837	10.6198	0.45474	0.0:0.7868:0.1354:0.0777	.	163;216	B4DLE5;P0C024	.;NUDT7_HUMAN	F	216;163	ENSP00000268533:L216F;ENSP00000387707:L163F	ENSP00000268533:L216F	L	+	1	0	NUDT7	76333277	0.996000	0.38824	0.588000	0.28705	0.364000	0.29643	0.497000	0.22514	2.526000	0.85167	0.561000	0.74099	CTT		0.378	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			3	30	0	0	0	0.009096	0	3	30				
PKD1L2	114780	broad.mit.edu	37	16	81232518	81232518	+	RNA	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:81232518C>A	ENST00000525539.1	-	0	1291				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTGGTGTTGCCGGTGGCTTG	0.567																																							uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1291-1293)GGC>GTC		polycystin 1-like 2 isoform a							191.0	192.0	191.0					16																	81232518		1984	4148	6132			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232518C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232518C>A						PKD1L2_uc002fgj.2_Missense_Mutation_p.G431V	p.G431V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			7	1292	-			431			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1292G>T		.	.	.	.	.	.	.	.	.	.	C	6.520	0.464241	0.12402	.	.	ENSG00000166473	ENST00000337114	T	0.01258	5.09	4.98	3.01	0.34805	Egg jelly receptor, REJ-like (1);	0.274271	0.40908	D	0.000993	T	0.01800	0.0057	.	.	.	0.36945	D	0.892556	B;B	0.20459	0.045;0.034	B;B	0.21151	0.033;0.013	T	0.50224	-0.8853	9	0.87932	D	0	-3.8102	10.4634	0.44594	0.0:0.7927:0.1341:0.0732	.	431;431	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	V	431	ENSP00000337397:G431V	ENSP00000337397:G431V	G	-	2	0	PKD1L2	79790019	0.997000	0.39634	0.036000	0.18154	0.008000	0.06430	1.495000	0.35627	0.514000	0.28300	0.549000	0.68633	GGC		0.567	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			34	158	1	0	4.14481e-20	0.00623	7.05554e-20	34	158				
CDH13	1012	broad.mit.edu	37	16	83711848	83711848	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:83711848G>T	ENST00000566620.1	+	10	1610	c.1320G>T	c.(1318-1320)ctG>ctT	p.L440L	CDH13_ENST00000428848.3_Silent_p.L401L|CDH13_ENST00000268613.10_Silent_p.L487L	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	440	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCCACACCCTGCTGATCAAAG	0.537																																							uc002fgx.2		NA																	0				large_intestine(1)	1						c.(1318-1320)CTG>CTT		cadherin 13 preproprotein							64.0	67.0	66.0					16																	83711848		2014	4177	6191	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83711848G>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1320G>T	16.37:g.83711848G>T						CDH13_uc010vns.1_Silent_p.L487L|CDH13_uc010vnt.1_Silent_p.L186L|CDH13_uc010vnu.1_Silent_p.L401L	p.L440L	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	10	1440	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	440			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.1320G>T	CCDS58486.1																																																																																				0.537	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		11	40	1	0	2.27111e-07	0.013537	2.85698e-07	11	40				
IRF8	3394	broad.mit.edu	37	16	85946800	85946800	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:85946800A>T	ENST00000268638.5	+	5	933	c.511A>T	c.(511-513)Agt>Tgt	p.S171C	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	171					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCCTGTCGGAGTCAGCTCCT	0.612																																							uc002fjh.2		NA																	0				breast(2)|ovary(1)	3						c.(511-513)AGT>TGT		interferon regulatory factor 8							89.0	95.0	93.0					16																	85946800		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85946800A>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.511A>T	16.37:g.85946800A>T	ENSP00000268638:p.Ser171Cys					IRF8_uc010chp.2_Intron	p.S171C	NM_002163	NP_002154	Q02556	IRF8_HUMAN			5	568	+		Prostate(104;0.0771)	171					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.511A>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.410916	0.42817	.	.	ENSG00000140968	ENST00000268638	D	0.97114	-4.25	4.86	3.76	0.43208	.	0.841422	0.11217	N	0.587155	D	0.95130	0.8422	L	0.46157	1.445	0.80722	D	1	P	0.35077	0.483	B	0.38056	0.264	D	0.91283	0.5053	10	0.45353	T	0.12	-6.2331	10.7056	0.45952	0.9239:0.0:0.0761:0.0	.	171	Q02556	IRF8_HUMAN	C	171	ENSP00000268638:S171C	ENSP00000268638:S171C	S	+	1	0	IRF8	84504301	0.992000	0.36948	0.912000	0.35992	0.973000	0.67179	3.222000	0.51223	0.811000	0.34303	0.459000	0.35465	AGT		0.612	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		19	104	0	0	0	0.012319	0	19	104				
ZNF232	7775	broad.mit.edu	37	17	5009656	5009656	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:5009656C>T	ENST00000250076.3	-	5	1452	c.798G>A	c.(796-798)ctG>ctA	p.L266L	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000575898.1_Silent_p.L257L|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	239					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCTCTGCTGCAGTTCTAAGG	0.488																																							uc002gas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(715-717)CTG>CTA		zinc finger protein 232							107.0	105.0	106.0					17																	5009656		2203	4300	6503	SO:0001819	synonymous_variant	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009656C>T	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.798G>A	17.37:g.5009656C>T						ZNF232_uc002gar.1_Silent_p.L257L|ZNF232_uc002gat.2_Silent_p.L266L	p.L239L	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1471	-			239						Silent	SNP	ENST00000250076.3	37	c.717G>A	CCDS11068.1																																																																																				0.488	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		16	42	0	0	0	0.008871	0	16	42				
TP53	7157	broad.mit.edu	37	17	7578431	7578431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:7578431G>A	ENST00000269305.4	-	5	688	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	167	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCATGTGCTGTGACTGCTTG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		53	Substitution - Nonsense(25)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Substitution - Missense(2)|Complex - compound substitution(1)	p.Q167*(19)|p.Q167fs*14(8)|p.0?(7)|p.Q167R(4)|p.Q167L(3)|p.Q167H(3)|p.Q167Q(3)|p.Q167fs*13(3)|p.Q167fs*3(3)|p.K164fs*3(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Q167K(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q167E(1)|p.Q167del(1)|p.Q167fs*12(1)|p.S149fs*72(1)|p.Q167_H168>HD(1)|p.Q167_H168>YL(1)|p.Q167fs*4(1)|p.Q165_M169delQSQHM(1)|p.A159_Q167delAMAIYKQSQ(1)	upper_aerodigestive_tract(9)|lung(8)|oesophagus(8)|large_intestine(7)|breast(5)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|soft_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM942118	TP53	M		c.(499-501)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	54.0	54.0					17																	7578431		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578431G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.499C>T	17.37:g.7578431G>A	ENSP00000269305:p.Gln167*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.Q167*|TP53_uc002gih.2_Nonsense_Mutation_p.Q167*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q35*|TP53_uc010cng.1_Nonsense_Mutation_p.Q35*|TP53_uc002gii.1_Nonsense_Mutation_p.Q35*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q167*|TP53_uc010cni.1_Nonsense_Mutation_p.Q167*|TP53_uc002gij.2_Nonsense_Mutation_p.Q167*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q74*|TP53_uc002gio.2_Nonsense_Mutation_p.Q35*|TP53_uc010vug.1_Nonsense_Mutation_p.Q128*	p.Q167*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	693	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	167		QH -> HD (in a sporadic cancer; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.499C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772268	0.49680	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.106561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.276	12.4331	0.55584	0.0:0.6985:0.3015:0.0	.	.	.	.	X	167;167;167;167;167;167;156;74;35;74;35	.	ENSP00000269305:Q167X	Q	-	1	0	TP53	7519156	1.000000	0.71417	0.013000	0.15412	0.114000	0.19823	5.156000	0.64905	1.520000	0.48965	0.655000	0.94253	CAG		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	47	0	0	0	0.004007	0	14	47				
MAP2K4	6416	broad.mit.edu	37	17	12016657	12016657	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:12016657G>T	ENST00000353533.5	+	7	856	c.793G>T	c.(793-795)Ggc>Tgc	p.G265C	MAP2K4_ENST00000415385.3_Missense_Mutation_p.G276C|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AAGAGATGCTGGCTGTAGGCC	0.463			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																		uc002gnj.2		NA		Rec	yes		17	17p11.2	6416	D|Mis|N	mitogen-activated protein kinase kinase 4			E			pancreatic|breast|colorectal		11	Whole gene deletion(10)|Unknown(1)	p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58						c.(793-795)GGC>TGC		mitogen-activated protein kinase kinase 4							104.0	99.0	101.0					17																	12016657		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12016657G>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.793G>T	17.37:g.12016657G>T	ENSP00000262445:p.Gly265Cys					MAP2K4_uc002gnk.2_Missense_Mutation_p.G276C|MAP2K4_uc010vvi.1_Missense_Mutation_p.G147C|MAP2K4_uc010vvj.1_Missense_Mutation_p.G137C	p.G265C	NM_003010	NP_003001	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	7	862	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	265			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.793G>T	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551205	0.86127	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.35605	1.3;1.3	4.41	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83458	0.0052	10	0.87932	D	0	.	15.9715	0.80025	0.0:0.0:1.0:0.0	.	137;276;265	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	C	265;276;242;137	ENSP00000262445:G265C;ENSP00000410402:G276C	ENSP00000262445:G265C	G	+	1	0	MAP2K4	11957382	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	9.657000	0.98554	2.297000	0.77311	0.591000	0.81541	GGC		0.463	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			11	49	1	0	1.61879e-10	0.013537	2.29791e-10	11	49				
KSR1	8844	broad.mit.edu	37	17	25938579	25938579	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:25938579C>T	ENST00000319524.6	+	19	2483	c.2483C>T	c.(2482-2484)gCa>gTa	p.A828V	KSR1_ENST00000268763.6_Missense_Mutation_p.A691V|KSR1_ENST00000398988.3_Missense_Mutation_p.A691V|KSR1_ENST00000582410.1_Missense_Mutation_p.A42V|KSR1_ENST00000509603.2_Missense_Mutation_p.A806V			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	828	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCTGCAGAGGCATCCATCTGG	0.567																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.2		NA																	0		p.I691I(1)		lung(3)|central_nervous_system(1)	4						c.(2071-2073)GCA>GTA		kinase suppressor of ras							86.0	89.0	88.0					17																	25938579		1985	4179	6164	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25938579C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2483C>T	17.37:g.25938579C>T	ENSP00000323178:p.Ala828Val					KSR1_uc002gzm.2_Missense_Mutation_p.A470V|KSR1_uc002gzn.2_Missense_Mutation_p.A42V	p.A691V	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	19	2517	+	Lung NSC(42;0.00836)		826			Protein kinase.		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.2072C>T		.	.	.	.	.	.	.	.	.	.	C	15.92	2.976139	0.53720	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	D;D;D	0.82893	-1.66;-1.66;-1.66	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056686	0.64402	D	0.000001	T	0.72708	0.3494	L	0.35414	1.06	0.58432	D	0.999997	P;B	0.43231	0.801;0.097	B;B	0.28232	0.087;0.014	T	0.74662	-0.3590	10	0.35671	T	0.21	.	18.7782	0.91920	0.0:1.0:0.0:0.0	.	826;806	Q8IVT5;F5H0K8	KSR1_HUMAN;.	V	828;806;691;691	ENSP00000323178:A828V;ENSP00000438795:A806V;ENSP00000268763:A691V	ENSP00000268763:A691V	A	+	2	0	KSR1	22962706	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	4.841000	0.62824	2.654000	0.90174	0.655000	0.94253	GCA		0.567	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		11	36	0	0	0	0.00245	0	11	36				
RAB34	83871	broad.mit.edu	37	17	27044007	27044007	+	Silent	SNP	C	C	G	rs146560008		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:27044007C>G	ENST00000395245.3	-	2	686	c.60G>C	c.(58-60)ctG>ctC	p.L20L	RAB34_ENST00000301043.6_Silent_p.L20L|RAB34_ENST00000436730.3_Silent_p.L20L|RAB34_ENST00000453384.3_Silent_p.L77L|RAB34_ENST00000395243.3_Silent_p.L20L|RAB34_ENST00000415040.2_Silent_p.L20L|RAB34_ENST00000395242.2_Silent_p.L20L|RAB34_ENST00000450529.1_Silent_p.L20L|RPL23A_ENST00000422514.2_5'Flank|RAB34_ENST00000447716.1_Silent_p.L77L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	20					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CCTCCTTCCTCAGGCACTTAG	0.647																																					Pancreas(175;216 2049 29940 32498 41589)	Pancreas(175;216 2049 29940 32498 41589)	uc002hce.2		NA																	0					0						c.(58-60)CTG>CTC		Ras-related protein RAB34 isoform 1							61.0	62.0	61.0					17																	27044007		2203	4300	6503	SO:0001819	synonymous_variant	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27044007C>G	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.60G>C	17.37:g.27044007C>G						RAB34_uc002hcg.2_Silent_p.L20L|RAB34_uc002hcf.2_Silent_p.L20L|RAB34_uc010was.1_Silent_p.L77L|RAB34_uc010wat.1_Silent_p.L77L|RAB34_uc002hch.2_Silent_p.L20L|RAB34_uc010wau.1_Silent_p.L20L|RAB34_uc010wav.1_Silent_p.L77L|RPL23A_uc002hci.2_5'Flank	p.L20L	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN			2	684	-	Lung NSC(42;0.00431)		20					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Silent	SNP	ENST00000395245.3	37	c.60G>C	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438386	0.25900	.	.	ENSG00000109113	ENST00000419712	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.9975	9.2107	0.37318	0.1619:0.6819:0.1562:0.0	.	.	.	.	S	40	.	.	X	-	2	2	RAB34	24068134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.932000	0.28884	2.812000	0.96745	0.561000	0.74099	TGA		0.647	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		14	27	0	0	0	0.00245	0	14	27				
TIAF1	9220	broad.mit.edu	37	17	27401169	27401169	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:27401169C>A	ENST00000359450.6	-	1	4706	c.49G>T	c.(49-51)Gct>Tct	p.A17S	MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.A17S|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	17					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCGTCTCCAGCTGCACAGAGA	0.597																																							uc002hdv.1		NA																	0					0						c.(49-51)GCT>TCT		TGFB1-induced anti-apoptotic factor 1							51.0	52.0	51.0					17																	27401169		2203	4300	6503	SO:0001583	missense	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27401169C>A	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.49G>T	17.37:g.27401169C>A	ENSP00000352424:p.Ala17Ser					MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	p.A17S	NM_004740	NP_004731	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	1459	-	Lung NSC(42;0.015)		17					A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	c.49G>T	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278246	0.40294	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	5.73	4.56	0.56223	.	.	.	.	.	T	0.39118	0.1066	N	0.08118	0	0.23528	N	0.997489	D	0.89917	1.0	D	0.75020	0.985	T	0.32719	-0.9896	8	0.87932	D	0	.	12.463	0.55743	0.0:0.9074:0.0:0.0926	.	17	O95411	TIAF1_HUMAN	S	17	.	ENSP00000386130:A17S	A	-	1	0	TIAF1	24425295	0.990000	0.36364	0.993000	0.49108	0.939000	0.58152	0.952000	0.29149	2.704000	0.92352	0.655000	0.94253	GCT		0.597	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		9	62	1	0	0.000442599	0.006214	0.000490528	9	62				
NF1	4763	broad.mit.edu	37	17	29663414	29663414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:29663414G>T	ENST00000358273.4	+	41	6453	c.6070G>T	c.(6070-6072)Gga>Tga	p.G2024*	NF1_ENST00000356175.3_Nonsense_Mutation_p.G2003*|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2024					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGTGGCTTGGGATCAATAAA	0.383			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(6070-6072)GGA>TGA		neurofibromin isoform 1							110.0	97.0	101.0					17																	29663414		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29663414G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6070G>T	17.37:g.29663414G>T	ENSP00000351015:p.Gly2024*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.G2003*|NF1_uc010cso.2_Nonsense_Mutation_p.G212*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.G2024*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	41	6403	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2024					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.6070G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	48	14.480849	0.99797	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0223	0.92920	0.0:0.0:1.0:0.0	.	.	.	.	X	2024;2003;1669	.	ENSP00000348498:G2003X	G	+	1	0	NF1	26687540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.344000	0.97050	2.797000	0.96272	0.655000	0.94253	GGA		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		10	69	1	0	1.61879e-10	0.013537	2.29791e-10	10	69				
TMEM132E	124842	broad.mit.edu	37	17	32953535	32953535	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:32953535T>A	ENST00000321639.5	+	2	785	c.457T>A	c.(457-459)Tgg>Agg	p.W153R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	153						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGGCCGGGACTGGGACGACTT	0.697																																							uc002hif.2		NA																	0				central_nervous_system(1)	1						c.(457-459)TGG>AGG		transmembrane protein 132E precursor							17.0	20.0	19.0					17																	32953535		2193	4287	6480	SO:0001583	missense	124842					integral to membrane		g.chr17:32953535T>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.457T>A	17.37:g.32953535T>A	ENSP00000316532:p.Trp153Arg						p.W153R	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	785	+			153			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.457T>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	t	22.1	4.241189	0.79912	.	.	ENSG00000181291	ENST00000321639	T	0.12361	2.69	5.17	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	M	0.80616	2.505	0.35961	D	0.8346	D	0.71674	0.998	D	0.71656	0.974	T	0.48352	-0.9043	10	0.62326	D	0.03	-18.6979	9.6154	0.39687	0.0:0.0825:0.0:0.9175	.	153	Q6IEE7	T132E_HUMAN	R	153	ENSP00000316532:W153R	ENSP00000316532:W153R	W	+	1	0	TMEM132E	29977648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.000000	0.70678	1.944000	0.56390	0.444000	0.29173	TGG		0.697	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		12	21	0	0	0	0.004007	0	12	21				
C17orf78	284099	broad.mit.edu	37	17	35733069	35733069	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:35733069C>A	ENST00000300618.4	+	1	85	c.35C>A	c.(34-36)gCa>gAa	p.A12E	ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.A12E	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	12						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				CTAATCATTGCATCCTATGAT	0.458																																							uc002hns.2		NA																	0					0						c.(34-36)GCA>GAA		hypothetical protein LOC284099							131.0	129.0	130.0					17																	35733069		2008	4183	6191	SO:0001583	missense	284099					integral to membrane		g.chr17:35733069C>A	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.35C>A	17.37:g.35733069C>A	ENSP00000300618:p.Ala12Glu					ACACA_uc002hnn.2_Intron|ACACA_uc002hno.2_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Missense_Mutation_p.A12E	p.A12E	NM_173625	NP_775896	Q8N4C9	CQ078_HUMAN			1	85	+		Breast(25;0.00295)|Ovarian(249;0.15)	12					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.35C>A	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794917	0.50208	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.49720	0.77	5.79	-1.07	0.09968	.	1.419330	0.04264	N	0.340957	T	0.39279	0.1072	L	0.27053	0.805	0.24770	N	0.992874	P;P	0.43701	0.815;0.815	P;P	0.45681	0.49;0.49	T	0.34403	-0.9830	10	0.59425	D	0.04	1.1831	4.9926	0.14222	0.0:0.4177:0.1477:0.4347	.	12;12	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	E	12	ENSP00000300618:A12E	ENSP00000300618:A12E	A	+	2	0	C17orf78	32807182	0.197000	0.23362	0.873000	0.34254	0.969000	0.65631	-0.910000	0.04054	-0.136000	0.11475	-0.282000	0.10007	GCA		0.458	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		7	47	1	0	0.00448238	0.004482	0.00485104	7	47				
KRTAP4-5	85289	broad.mit.edu	37	17	39305839	39305839	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:39305839A>T	ENST00000343246.4	-	1	215	c.181T>A	c.(181-183)Tgc>Agc	p.C61S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	61	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgcagcagctaggg	0.667																																							uc002hwb.2		NA																	0					0						c.(181-183)TGC>AGC		keratin associated protein 4-5							19.0	23.0	21.0					17																	39305839		2168	4261	6429	SO:0001583	missense	85289					keratin filament		g.chr17:39305839A>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.181T>A	17.37:g.39305839A>T	ENSP00000340546:p.Cys61Ser						p.C61S	NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	216	-		Breast(137;0.000496)	61			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|9.			Missense_Mutation	SNP	ENST00000343246.4	37	c.181T>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	9.193	1.026467	0.19512	.	.	ENSG00000198271	ENST00000343246	T	0.00637	6.05	4.04	4.04	0.47022	.	0.000000	0.40302	U	0.001130	T	0.01124	0.0037	M	0.77616	2.38	0.25414	N	0.98834	B	0.25351	0.124	B	0.28553	0.091	T	0.35325	-0.9793	10	0.48119	T	0.1	.	6.1992	0.20567	0.8852:0.0:0.1148:0.0	.	61	Q9BYR2	KRA45_HUMAN	S	61	ENSP00000340546:C61S	ENSP00000340546:C61S	C	-	1	0	KRTAP4-5	36559365	1.000000	0.71417	0.957000	0.39632	0.026000	0.11368	4.257000	0.58816	1.797000	0.52628	0.533000	0.62120	TGC		0.667	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			3	61	0	0	0	0.000602	0	3	61				
LEPREL4	10609	broad.mit.edu	37	17	39967431	39967432	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:39967431_39967432CC>AA	ENST00000355468.3	-	3	1033_1034	c.567_568GG>TT	c.(565-570)ctGGac>ctTTac	p.D190Y	LEPREL4_ENST00000393928.1_Missense_Mutation_p.D190Y|FKBP10_ENST00000321562.4_5'Flank			Q92791	SC65_HUMAN	leprecan-like 4	190					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCGGCGACGTCCAGCATCCCCT	0.639																																							uc002hxt.2		NA																	0					0						c.(565-570)CTGGAC>CTTTAC		synaptonemal complex protein SC65																																				SO:0001583	missense	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39967431_39967432CC>AA	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.567_568delinsAA	17.37:g.39967431_39967432delinsAA	ENSP00000347649:p.Asp190Tyr					FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.D281Y	p.D190Y	NM_006455	NP_006446	Q92791	SC65_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.149)	2	851_852	-		Breast(137;0.000162)	190					Q53GI6|Q9H4F6	Missense_Mutation	DNP	ENST00000355468.3	37	c.567_568GG>TT	CCDS11408.1																																																																																				0.639	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			12	316	0	0	0	0.004672	0	12	316				
AOC3	8639	broad.mit.edu	37	17	41004815	41004815	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:41004815A>G	ENST00000308423.2	+	1	1615	c.1455A>G	c.(1453-1455)atA>atG	p.I485M	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	485					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTGGGGCCATAGAAATACGAT	0.547																																					NSCLC(3;192 220 10664 11501 16477)	NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1453-1455)ATA>ATG		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						128.0	113.0	118.0					17																	41004815		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004815A>G	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1455A>G	17.37:g.41004815A>G	ENSP00000312326:p.Ile485Met						p.I485M	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1615	+		Breast(137;0.000143)	485			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1455A>G	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	A	7.325	0.617760	0.14129	.	.	ENSG00000131471	ENST00000308423	T	0.06449	3.3	5.26	-5.38	0.02673	Copper amine oxidase, C-terminal (3);	0.209919	0.42172	D	0.000753	T	0.07954	0.0199	L	0.33485	1.01	0.80722	D	1	P	0.50710	0.938	D	0.65443	0.935	T	0.37361	-0.9709	10	0.39692	T	0.17	.	2.6363	0.04959	0.1265:0.4156:0.1857:0.2723	.	485	Q16853	AOC3_HUMAN	M	485	ENSP00000312326:I485M	ENSP00000312326:I485M	I	+	3	3	AOC3	38258341	0.000000	0.05858	0.780000	0.31762	0.515000	0.34225	-2.017000	0.01445	-0.917000	0.03813	0.533000	0.62120	ATA		0.547	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		16	91	0	0	0	0.008871	0	16	91				
FZD2	2535	broad.mit.edu	37	17	42635099	42635099	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:42635099C>A	ENST00000315323.3	+	1	175	c.43C>A	c.(43-45)Ctg>Atg	p.L15M		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	15					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		gctgccgctgctgctgctgcC	0.781																																							uc002igx.1		NA																	0				ovary(2)|lung(1)	3						c.(43-45)CTG>ATG		frizzled 2 precursor							16.0	17.0	17.0					17																	42635099		2198	4295	6493	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635099C>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.43C>A	17.37:g.42635099C>A	ENSP00000323901:p.Leu15Met						p.L15M	NM_001466	NP_001457	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	175	+		Prostate(33;0.0181)	15					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.43C>A	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	9.272	1.045959	0.19748	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.74842	-0.88	3.09	3.09	0.35607	.	0.337533	0.24341	U	0.039367	T	0.55529	0.1926	N	0.19112	0.55	0.23893	N	0.996545	B	0.27229	0.172	B	0.20577	0.03	T	0.47005	-0.9150	10	0.34782	T	0.22	.	9.6029	0.39615	0.0:0.7847:0.2153:0.0	.	15	Q14332	FZD2_HUMAN	M	91;15	ENSP00000323901:L15M	ENSP00000323901:L15M	L	+	1	2	FZD2	39990625	0.996000	0.38824	0.990000	0.47175	0.815000	0.46073	1.768000	0.38511	1.558000	0.49541	0.457000	0.33378	CTG		0.781	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		4	20	1	0	0.00909568	0.009096	0.00967948	4	20				
NPEPPS	9520	broad.mit.edu	37	17	45669330	45669330	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:45669330G>T	ENST00000322157.4	+	11	1506	c.1269G>T	c.(1267-1269)gtG>gtT	p.V423V	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Silent_p.V419V|NPEPPS_ENST00000544660.1_Silent_p.V343V	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	423					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AGGTCAGTGTGGGCCATCCAT	0.423																																							uc002ilr.3		NA																	0					0						c.(1267-1269)GTG>GTT		aminopeptidase puromycin sensitive							127.0	82.0	97.0					17																	45669330		2055	4181	6236	SO:0001819	synonymous_variant	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45669330G>T	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1269G>T	17.37:g.45669330G>T						NPEPPS_uc010wkt.1_Silent_p.V419V|NPEPPS_uc010wku.1_Silent_p.V387V|NPEPPS_uc010wkv.1_5'UTR	p.V423V	NM_006310	NP_006301	P55786	PSA_HUMAN			11	1492	+			423					B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	ENST00000322157.4	37	c.1269G>T	CCDS45721.1																																																																																				0.423	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		3	63	1	0	0.00909568	0.009096	0.00967948	3	63				
TBX21	30009	broad.mit.edu	37	17	45811281	45811281	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:45811281A>T	ENST00000177694.1	+	1	672	c.461A>T	c.(460-462)cAg>cTg	p.Q154L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	154					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATCAGCACCAGACAGAGATG	0.617																																							uc002ilv.1		NA																	0					0						c.(460-462)CAG>CTG		T-box 21							38.0	42.0	41.0					17																	45811281		2006	4177	6183	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45811281A>T	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.461A>T	17.37:g.45811281A>T	ENSP00000177694:p.Gln154Leu						p.Q154L	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			1	672	+			154			T-box.			Missense_Mutation	SNP	ENST00000177694.1	37	c.461A>T	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704489	0.88924	.	.	ENSG00000073861	ENST00000177694	D	0.87809	-2.3	3.87	3.87	0.44632	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.221597	0.28952	N	0.013602	D	0.90126	0.6915	M	0.78223	2.4	0.80722	D	1	P	0.39831	0.69	P	0.49361	0.608	D	0.91041	0.4871	10	0.72032	D	0.01	.	11.7933	0.52082	1.0:0.0:0.0:0.0	.	154	Q9UL17	TBX21_HUMAN	L	154	ENSP00000177694:Q154L	ENSP00000177694:Q154L	Q	+	2	0	TBX21	43166280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.726000	0.91474	1.637000	0.50538	0.402000	0.26972	CAG		0.617	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		7	46	0	0	0	0.004482	0	7	46				
MRPL10	124995	broad.mit.edu	37	17	45904472	45904472	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:45904472C>A	ENST00000351111.2	-	3	326	c.321G>T	c.(319-321)gaG>gaT	p.E107D	MRPL10_ENST00000414011.1_Missense_Mutation_p.E117D|MRPL10_ENST00000290208.7_Missense_Mutation_p.E117D	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	107					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GAAGCTTGTCCTCTGCACTCA	0.557																																							uc002ilz.2		NA																	0				ovary(1)	1						c.(319-321)GAG>GAT		mitochondrial ribosomal protein L10 precursor							114.0	98.0	103.0					17																	45904472		2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904472C>A	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.321G>T	17.37:g.45904472C>A	ENSP00000324100:p.Glu107Asp					MRPL10_uc010wky.1_Missense_Mutation_p.E68D|MRPL10_uc002ily.2_Missense_Mutation_p.E117D	p.E107D	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN			3	347	-			107					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.321G>T	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137074	0.56936	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.44083	0.93;0.93;0.93	5.62	3.63	0.41609	.	0.043745	0.85682	D	0.000000	T	0.52419	0.1733	M	0.71581	2.175	0.58432	D	0.999995	D;D	0.63880	0.993;0.993	P;P	0.61003	0.882;0.843	T	0.50482	-0.8823	10	0.27785	T	0.31	-2.0874	6.3229	0.21227	0.1512:0.6883:0.0:0.1605	.	107;117	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	D	107;117;117	ENSP00000324100:E107D;ENSP00000290208:E117D;ENSP00000395870:E117D	ENSP00000290208:E117D	E	-	3	2	MRPL10	43259471	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	0.644000	0.24766	1.373000	0.46208	0.561000	0.74099	GAG		0.557	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		18	104	1	0	3.62473e-10	0.012319	5.07585e-10	18	104				
BZRAP1	9256	broad.mit.edu	37	17	56384267	56384267	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:56384267G>A	ENST00000343736.4	-	25	5209	c.5046C>T	c.(5044-5046)taC>taT	p.Y1682Y	BZRAP1_ENST00000268893.6_Silent_p.Y1622Y|BZRAP1_ENST00000355701.3_Silent_p.Y1682Y			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1682	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAGGGAATGTAGCCTGTCC	0.587																																							uc002ivx.3		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(5044-5046)TAC>TAT		peripheral benzodiazepine receptor-associated							70.0	57.0	61.0					17																	56384267		2203	4299	6502	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56384267G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5046C>T	17.37:g.56384267G>A						BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Silent_p.Y1622Y|BZRAP1_uc010wnt.1_Silent_p.Y1682Y	p.Y1682Y	NM_004758	NP_004749	O95153	RIMB1_HUMAN			25	5917	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1682			SH3 2.		O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.5046C>T	CCDS11605.1																																																																																				0.587	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		24	82	0	0	0	0.004656	0	24	82				
TEX14	56155	broad.mit.edu	37	17	56663276	56663276	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:56663276C>G	ENST00000240361.8	-	18	3059	c.2974G>C	c.(2974-2976)Gag>Cag	p.E992Q	TEX14_ENST00000349033.5_Missense_Mutation_p.E986Q|TEX14_ENST00000389934.3_Missense_Mutation_p.E986Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	992					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTATGATACTCAATAACTCGC	0.527																																							uc010dcz.1		NA																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(2974-2976)GAG>CAG		testis expressed sequence 14 isoform a							168.0	155.0	159.0					17																	56663276		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56663276C>G	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2974G>C	17.37:g.56663276C>G	ENSP00000240361:p.Glu992Gln					TEX14_uc002iwr.1_Missense_Mutation_p.E986Q|TEX14_uc002iws.1_Missense_Mutation_p.E986Q|TEX14_uc010dda.1_Missense_Mutation_p.E766Q	p.E992Q	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			18	3092	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		992					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2974G>C	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174342	0.57692	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.81415	-1.49;-1.49;-1.43	4.85	3.88	0.44766	.	0.822874	0.11147	N	0.594556	D	0.83147	0.5191	L	0.54323	1.7	0.09310	N	1	D;D;D	0.55800	0.973;0.967;0.967	P;P;P	0.53689	0.544;0.732;0.732	T	0.72060	-0.4404	10	0.59425	D	0.04	-1.4863	11.022	0.47724	0.0:0.8121:0.1879:0.0	.	992;986;986	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Q	992;986;986	ENSP00000240361:E992Q;ENSP00000374584:E986Q;ENSP00000268910:E986Q	ENSP00000240361:E992Q	E	-	1	0	TEX14	54018275	0.045000	0.20229	0.006000	0.13384	0.147000	0.21601	1.902000	0.39848	1.264000	0.44198	0.561000	0.74099	GAG		0.527	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			4	113	0	0	0	0.001168	0	4	113				
TRIM37	4591	broad.mit.edu	37	17	57105837	57105837	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:57105837C>A	ENST00000262294.7	-	19	2455	c.2196G>T	c.(2194-2196)ttG>ttT	p.L732F	TRIM37_ENST00000393066.3_Missense_Mutation_p.L732F|TRIM37_ENST00000393065.2_Missense_Mutation_p.L698F|TRIM37_ENST00000376149.3_Missense_Mutation_p.L610F	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	732					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CCAAATCCTGCAATCTGCCAG	0.453									Mulibrey Nanism																														uc002iwy.3		NA																	0				lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(2194-2196)TTG>TTT		tripartite motif-containing 37 protein							62.0	59.0	60.0					17																	57105837		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57105837C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2196G>T	17.37:g.57105837C>A	ENSP00000262294:p.Leu732Phe					TRIM37_uc002iwz.3_Missense_Mutation_p.L732F|TRIM37_uc002ixa.3_Missense_Mutation_p.L610F|TRIM37_uc010woc.1_Missense_Mutation_p.L698F	p.L732F	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			19	2640	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		732					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.2196G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282582	0.59867	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.61	2.14	0.27477	.	0.227173	0.30293	N	0.009950	T	0.38983	0.1061	L	0.29908	0.895	0.44807	D	0.997812	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.10917	-1.0609	10	0.87932	D	0	-1.0196	9.07	0.36486	0.0:0.3524:0.0:0.6476	.	698;610;732	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	F	732;732;610;698	ENSP00000376785:L732F;ENSP00000262294:L732F;ENSP00000365319:L610F;ENSP00000376784:L698F	ENSP00000262294:L732F	L	-	3	2	TRIM37	54460619	0.971000	0.33674	0.998000	0.56505	0.972000	0.66771	-0.101000	0.10973	0.072000	0.16694	-0.385000	0.06624	TTG		0.453	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		12	46	1	0	1.52009e-12	0.003163	2.28289e-12	12	46				
BCAS3	54828	broad.mit.edu	37	17	59067346	59067346	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:59067346C>T	ENST00000390652.5	+	15	1267	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	BCAS3_ENST00000408905.3_Silent_p.C412C|BCAS3_ENST00000588874.1_Silent_p.C183C|BCAS3_ENST00000585744.1_Silent_p.C183C|BCAS3_ENST00000588462.1_Silent_p.C412C|BCAS3_ENST00000589222.1_Silent_p.C412C|BCAS3_ENST00000407086.3_Silent_p.C412C	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGGACATCTGCTTCAGCCATG	0.433																																							uc002iyv.3		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1234-1236)TGC>TGT		breast carcinoma amplified sequence 3 isoform 1							124.0	119.0	120.0					17																	59067346		1919	4118	6037	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59067346C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1236C>T	17.37:g.59067346C>T						BCAS3_uc010wow.1_Silent_p.C199C|BCAS3_uc002iyu.3_Silent_p.C412C|BCAS3_uc002iyw.3_Silent_p.C408C|BCAS3_uc002iyx.1_Silent_p.C227C|BCAS3_uc002iyy.3_Silent_p.C183C|BCAS3_uc002iyz.3_5'UTR|BCAS3_uc002iza.3_5'UTR	p.C412C	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		15	1345	+			412			WD 3.			Silent	SNP	ENST00000390652.5	37	c.1236C>T	CCDS45749.1																																																																																				0.433	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		12	83	0	0	0	0.003163	0	12	83				
KCNJ16	3773	broad.mit.edu	37	17	68128429	68128429	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:68128429C>T	ENST00000589377.1	+	2	364	c.201C>T	c.(199-201)gaC>gaT	p.D67D	KCNJ16_ENST00000283936.1_Silent_p.D67D|KCNJ16_ENST00000586462.1_Silent_p.D106D|KCNJ16_ENST00000392670.1_Silent_p.D67D|KCNJ16_ENST00000585558.1_Silent_p.D102D|KCNJ16_ENST00000392671.1_Silent_p.D67D	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	67					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CTCTTGTGGACACCAAGTGGC	0.418																																							uc002jin.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(199-201)GAC>GAT		potassium inwardly-rectifying channel J16							288.0	251.0	264.0					17																	68128429		2203	4300	6503	SO:0001819	synonymous_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128429C>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.201C>T	17.37:g.68128429C>T						KCNJ16_uc002jio.2_Silent_p.D67D|KCNJ16_uc002jip.2_Silent_p.D67D|KCNJ16_uc002jiq.2_Silent_p.D99D	p.D67D	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	687	+	Breast(10;2.96e-09)		67			Cytoplasmic (By similarity).			Silent	SNP	ENST00000589377.1	37	c.201C>T	CCDS11687.1																																																																																				0.418	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		21	90	0	0	0	0.00333	0	21	90				
DNAI2	64446	broad.mit.edu	37	17	72297275	72297275	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:72297275G>T	ENST00000311014.6	+	8	1022	c.955G>T	c.(955-957)Ggg>Tgg	p.G319W	DNAI2_ENST00000579490.1_Missense_Mutation_p.G376W|DNAI2_ENST00000307504.5_Missense_Mutation_p.G176W|DNAI2_ENST00000582036.1_Missense_Mutation_p.G319W|DNAI2_ENST00000446837.2_Missense_Mutation_p.G319W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	319					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAATGCCTTGGGGGCCATCTC	0.542									Kartagener syndrome																														uc002jkf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(955-957)GGG>TGG		dynein, axonemal, intermediate polypeptide 2							214.0	189.0	197.0					17																	72297275		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72297275G>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.955G>T	17.37:g.72297275G>T	ENSP00000308312:p.Gly319Trp					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.G319W	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			8	1054	+			319					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.955G>T	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330993	0.81690	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.16324	2.35;2.35;2.35	5.32	5.32	0.75619	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	0.56514	0.1990	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69606	-0.5100	10	0.87932	D	0	-68.5875	19.4438	0.94838	0.0:0.0:1.0:0.0	.	319	Q9GZS0	DNAI2_HUMAN	W	319;176;319	ENSP00000308312:G319W;ENSP00000302929:G176W;ENSP00000400252:G319W	ENSP00000302929:G176W	G	+	1	0	DNAI2	69808870	1.000000	0.71417	0.993000	0.49108	0.618000	0.37518	9.355000	0.97087	2.661000	0.90470	0.650000	0.86243	GGG		0.542	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		47	176	1	0	1.54886e-18	0.01441	2.60447e-18	47	176				
TMEM104	54868	broad.mit.edu	37	17	72832430	72832430	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:72832430C>T	ENST00000335464.5	+	10	1257	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	TMEM104_ENST00000582330.1_Silent_p.I365I|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	365						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCTTCACCATCAGCACCAACT	0.627																																							uc002jls.3		NA																	0					0						c.(1093-1095)ATC>ATT		transmembrane protein 104							240.0	201.0	214.0					17																	72832430		2203	4300	6503	SO:0001819	synonymous_variant	54868					integral to membrane		g.chr17:72832430C>T	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1095C>T	17.37:g.72832430C>T						TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.I365I	p.I365I	NM_017728	NP_060198	Q8NE00	TM104_HUMAN			10	1257	+	all_lung(278;0.23)		365			Helical; (Potential).		Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	c.1095C>T	CCDS32723.1																																																																																				0.627	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		24	279	0	0	0	0.010818	0	24	279				
OTOP3	347741	broad.mit.edu	37	17	72943385	72943385	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:72943385G>C	ENST00000328801.4	+	6	1435	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	479						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCCACTCTGGGAGACAGTTCC	0.667																																							uc010wrr.1		NA																	0				ovary(1)	1						c.(1435-1437)GAG>CAG		otopetrin 3							30.0	29.0	29.0					17																	72943385		2203	4300	6503	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72943385G>C	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1435G>C	17.37:g.72943385G>C	ENSP00000328090:p.Glu479Gln					OTOP3_uc010wrq.1_Missense_Mutation_p.E461Q	p.E479Q	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN			6	1435	+	all_lung(278;0.151)|Lung NSC(278;0.185)		479						Missense_Mutation	SNP	ENST00000328801.4	37	c.1435G>C	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414613	0.62511	.	.	ENSG00000182938	ENST00000328801	T	0.22336	1.96	4.02	4.02	0.46733	.	0.447374	0.20778	N	0.085847	T	0.34716	0.0907	M	0.75264	2.295	0.41592	D	0.9888	D	0.54397	0.966	P	0.53313	0.723	T	0.10245	-1.0638	10	0.31617	T	0.26	-22.7518	11.493	0.50391	0.0:0.0:1.0:0.0	.	479	Q7RTS5	OTOP3_HUMAN	Q	479	ENSP00000328090:E479Q	ENSP00000328090:E479Q	E	+	1	0	OTOP3	70454980	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	2.835000	0.48175	2.073000	0.62155	0.462000	0.41574	GAG		0.667	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		3	17	0	0	0	0.004672	0	3	17				
MIF4GD	57409	broad.mit.edu	37	17	73263692	73263692	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:73263692A>T	ENST00000325102.8	-	5	492	c.368T>A	c.(367-369)aTg>aAg	p.M123K	MIF4GD_ENST00000578305.1_Missense_Mutation_p.D34E|MIF4GD_ENST00000579119.1_Missense_Mutation_p.M123K|MIF4GD_ENST00000577542.1_Missense_Mutation_p.M164K|MIF4GD_ENST00000580571.1_Missense_Mutation_p.M71K|MIF4GD_ENST00000579297.1_Missense_Mutation_p.M164K|MIF4GD_ENST00000245551.5_Missense_Mutation_p.M157K	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	123	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CACCAGGGCCATCATGGGCAT	0.617																																							uc002jnr.2		NA																	0				ovary(1)	1						c.(367-369)ATG>AAG		RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;							95.0	94.0	94.0					17																	73263692		2203	4300	6503	SO:0001583	missense	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73263692A>T	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.368T>A	17.37:g.73263692A>T	ENSP00000321625:p.Met123Lys					MIF4GD_uc002jno.2_Missense_Mutation_p.M164K|MIF4GD_uc002jnp.2_Missense_Mutation_p.M157K|MIF4GD_uc002jnq.2_Missense_Mutation_p.M164K	p.M123K			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		5	497	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		123			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	c.368T>A	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563337	0.45694	.	.	ENSG00000125457	ENST00000245551;ENST00000325102	T;T	0.22539	1.95;1.95	5.89	5.89	0.94794	MIF4G-like, type 3 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.180962	0.56097	D	0.000024	T	0.17109	0.0411	N	0.22421	0.69	0.28232	N	0.926051	B;P;P	0.43938	0.144;0.813;0.822	B;B;P	0.45343	0.113;0.281;0.477	T	0.13255	-1.0516	10	0.02654	T	1	-21.4188	16.2977	0.82784	1.0:0.0:0.0:0.0	.	123;157;164	A9UHW6;A9UHW6-2;B4DUM7	MI4GD_HUMAN;.;.	K	157;123	ENSP00000245551:M157K;ENSP00000321625:M123K	ENSP00000245551:M157K	M	-	2	0	MIF4GD	70775287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.629000	0.67798	2.255000	0.74692	0.533000	0.62120	ATG		0.617	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679		20	87	0	0	0	0.00278	0	20	87				
WBP2	23558	broad.mit.edu	37	17	73847686	73847686	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:73847686C>A	ENST00000591399.1	-	3	555	c.131G>T	c.(130-132)gGg>gTg	p.G44V	WBP2_ENST00000254806.3_Missense_Mutation_p.G44V|WBP2_ENST00000344296.4_Missense_Mutation_p.G22V|WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000585462.1_Missense_Mutation_p.G22V|WBP2_ENST00000590221.1_Missense_Mutation_p.G44V|WBP2_ENST00000433525.2_Missense_Mutation_p.G44V			Q969T9	WBP2_HUMAN	WW domain binding protein 2	44	GRAM.				cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTCTTGGTCCCTTTGAAGGC	0.488																																							uc002jps.2		NA																	0					0						c.(130-132)GGG>GTG		WW domain binding protein 2							336.0	276.0	296.0					17																	73847686		2203	4300	6503	SO:0001583	missense	23558						protein binding	g.chr17:73847686C>A	U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.131G>T	17.37:g.73847686C>A	ENSP00000467579:p.Gly44Val					WBP2_uc002jpr.2_Missense_Mutation_p.G10V|WBP2_uc010wsl.1_Missense_Mutation_p.G10V|WBP2_uc002jpt.2_Missense_Mutation_p.G44V|WBP2_uc002jpu.1_RNA|WBP2_uc010wsm.1_Missense_Mutation_p.G44V|WBP2_uc010wsn.1_Missense_Mutation_p.G44V	p.G44V	NM_012478	NP_036610	Q969T9	WBP2_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	254	-			44			GRAM.		O95638	Missense_Mutation	SNP	ENST00000591399.1	37	c.131G>T	CCDS11731.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.734824	0.69189	.	.	ENSG00000132471	ENST00000254806;ENST00000344296;ENST00000433525;ENST00000431190;ENST00000416574	D;D;D	0.87334	-2.24;-2.24;-2.24	4.72	3.75	0.43078	GRAM (1);	0.148161	0.64402	D	0.000009	D	0.93363	0.7884	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.995;0.993;0.993	D	0.92752	0.6217	10	0.37606	T	0.19	-10.3192	13.165	0.59565	0.0:0.9216:0.0:0.0784	.	44;44;44;44	B4DV07;B4DFG2;Q7Z511;Q969T9	.;.;.;WBP2_HUMAN	V	44;22;44;44;44	ENSP00000254806:G44V;ENSP00000341570:G22V;ENSP00000415251:G44V	ENSP00000254806:G44V	G	-	2	0	WBP2	71359281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.467000	0.66737	1.103000	0.41568	-0.258000	0.10820	GGG		0.488	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	NM_012478		33	146	1	0	1.59361e-14	0.006999	2.47861e-14	33	146				
QRICH2	84074	broad.mit.edu	37	17	74287225	74287225	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:74287225C>G	ENST00000262765.5	-	4	3264	c.3085G>C	c.(3085-3087)Gag>Cag	p.E1029Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1029										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGAAATGTCTCCACTGCCGTG	0.527																																							uc002jrd.1		NA																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(3085-3087)GAG>CAG		glutamine rich 2							119.0	114.0	116.0					17																	74287225		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74287225C>G	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3085G>C	17.37:g.74287225C>G	ENSP00000262765:p.Glu1029Gln					QRICH2_uc010wsz.1_Missense_Mutation_p.E955Q|QRICH2_uc010dgw.1_Intron	p.E1029Q	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	3265	-			1029					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.3085G>C	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138098	0.56936	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.60920	2.12;0.15	5.54	5.54	0.83059	.	.	.	.	.	T	0.67664	0.2917	L	0.32530	0.975	0.31679	N	0.643392	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.973	T	0.69950	-0.5006	9	0.51188	T	0.08	-15.3145	16.216	0.82217	0.0:1.0:0.0:0.0	.	1029;1029	B5MD94;Q9H0J4	.;QRIC2_HUMAN	Q	1029;37;1029	ENSP00000262765:E1029Q;ENSP00000394461:E37Q	ENSP00000262765:E1029Q	E	-	1	0	QRICH2	71798820	1.000000	0.71417	0.992000	0.48379	0.015000	0.08874	2.316000	0.43761	2.610000	0.88304	0.555000	0.69702	GAG		0.527	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		7	130	0	0	0	0.006214	0	7	130				
ASPSCR1	79058	broad.mit.edu	37	17	79943454	79943454	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr17:79943454G>C	ENST00000306739.4	+	4	442	c.345G>C	c.(343-345)tgG>tgC	p.W115C	ASPSCR1_ENST00000581647.1_Missense_Mutation_p.W115C|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.W38C|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.W115C	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	115					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGACCCTCTGGGAGCTTCTCA	0.557			T	TFE3	alveolar soft part sarcoma																																		uc002kcx.2		NA		Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(161)	0				soft_tissue(118)|kidney(43)|breast(1)	162						c.(343-345)TGG>TGC		alveolar soft part sarcoma chromosome region,							88.0	78.0	82.0					17																	79943454		2203	4300	6503	SO:0001583	missense	79058						protein binding	g.chr17:79943454G>C	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.345G>C	17.37:g.79943454G>C	ENSP00000302176:p.Trp115Cys					ASPSCR1_uc002kcw.1_Missense_Mutation_p.W115C|ASPSCR1_uc002kcy.2_Missense_Mutation_p.W115C|ASPSCR1_uc002kcz.2_Missense_Mutation_p.W115C|ASPSCR1_uc002kda.2_Missense_Mutation_p.W38C|ASPSCR1_uc002kdb.1_Missense_Mutation_p.W38C	p.W115C	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	442	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		115					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.345G>C	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742678	0.30865	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.08282	3.11;3.11	5.44	5.44	0.79542	.	0.121454	0.64402	D	0.000013	T	0.34193	0.0889	M	0.86864	2.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.995;0.998	T	0.15694	-1.0428	10	0.87932	D	0	-19.51	14.752	0.69533	0.0:0.0:1.0:0.0	.	38;38;115;115;38	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	C	115;115;38	ENSP00000302176:W115C;ENSP00000306625:W115C	ENSP00000306625:W115C	W	+	3	0	ASPSCR1	77536743	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.380000	0.79704	2.548000	0.85928	0.467000	0.42956	TGG		0.557	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		12	43	0	0	0	0.001855	0	12	43				
ESCO1	114799	broad.mit.edu	37	18	19147950	19147950	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:19147950T>A	ENST00000269214.5	-	5	2573	c.1636A>T	c.(1636-1638)Aaa>Taa	p.K546*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	546					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CCTGGAAATTTATTCTCTCCT	0.348																																							uc002kth.1		NA																	0					0						c.(1636-1638)AAA>TAA		establishment of cohesion 1 homolog 1							77.0	77.0	77.0					18																	19147950		2203	4300	6503	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19147950T>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1636A>T	18.37:g.19147950T>A	ENSP00000269214:p.Lys546*					ESCO1_uc002kti.1_RNA	p.K546*	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			5	2570	-			546					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.1636A>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	46	12.531202	0.99675	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	5.22	2.85	0.33270	.	0.353834	0.27802	N	0.017788	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4284	5.5982	0.17339	0.0:0.281:0.0:0.719	.	.	.	.	X	546	.	ENSP00000269214:K546X	K	-	1	0	ESCO1	17401948	0.998000	0.40836	0.921000	0.36526	0.921000	0.55340	1.296000	0.33389	0.947000	0.37659	0.528000	0.53228	AAA		0.348	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		24	39	0	0	0	0.003954	0	24	39				
ESCO1	114799	broad.mit.edu	37	18	19153945	19153945	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:19153945T>C	ENST00000269214.5	-	4	1797	c.860A>G	c.(859-861)cAa>cGa	p.Q287R		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	287					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTATCACTTTGTTCAGGCAC	0.428																																							uc002kth.1		NA																	0					0						c.(859-861)CAA>CGA		establishment of cohesion 1 homolog 1							112.0	112.0	112.0					18																	19153945		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153945T>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.860A>G	18.37:g.19153945T>C	ENSP00000269214:p.Gln287Arg					ESCO1_uc002kti.1_RNA	p.Q287R	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			4	1794	-			287					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.860A>G	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691172	0.30052	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.58210	0.35;1.91	5.5	2.73	0.32206	.	0.835337	0.10695	N	0.644671	T	0.41673	0.1169	L	0.51422	1.61	0.24876	N	0.992258	B	0.23442	0.085	B	0.16722	0.016	T	0.28808	-1.0032	10	0.15952	T	0.53	-27.9937	6.8667	0.24098	0.0:0.0898:0.368:0.5421	.	287	Q5FWF5	ESCO1_HUMAN	R	287	ENSP00000269214:Q287R;ENSP00000372763:Q287R	ENSP00000269214:Q287R	Q	-	2	0	ESCO1	17407943	0.971000	0.33674	0.993000	0.49108	0.986000	0.74619	0.278000	0.18753	0.903000	0.36546	0.533000	0.62120	CAA		0.428	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		19	37	0	0	0	0.006122	0	19	37				
DSC2	1824	broad.mit.edu	37	18	28654794	28654794	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:28654794T>A	ENST00000280904.6	-	12	2186	c.1743A>T	c.(1741-1743)acA>acT	p.T581T	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Silent_p.T581T	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	581	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGATGATCACTGTCTTTTTAG	0.438																																							uc002kwl.3		NA																	0				ovary(2)|skin(1)	3						c.(1741-1743)ACA>ACT		desmocollin 2 isoform Dsc2a preproprotein							153.0	126.0	135.0					18																	28654794		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28654794T>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1743A>T	18.37:g.28654794T>A						DSC2_uc002kwk.3_Silent_p.T581T	p.T581T	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		12	2197	-			581			Extracellular (Potential).|Cadherin 5.			Silent	SNP	ENST00000280904.6	37	c.1743A>T	CCDS11892.1																																																																																				0.438	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		10	20	0	0	0	0.010729	0	10	20				
RIT2	6014	broad.mit.edu	37	18	40503687	40503687	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:40503687C>T	ENST00000326695.5	-	4	447	c.276G>A	c.(274-276)ggG>ggA	p.G92G	RIT2_ENST00000590910.1_Missense_Mutation_p.G113E|RIT2_ENST00000282028.4_Silent_p.G92G|RIT2_ENST00000589109.1_Silent_p.G92G	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	92					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAAGCCTTCCCCACCTCGCA	0.433																																							uc002lav.2		NA																	0				ovary(1)	1						c.(274-276)GGG>GGA		Ras-like without CAAX 2							196.0	200.0	199.0					18																	40503687		2203	4300	6503	SO:0001819	synonymous_variant	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40503687C>T	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.276G>A	18.37:g.40503687C>T						RIT2_uc010dnf.2_Silent_p.G92G	p.G92G	NM_002930	NP_002921	Q99578	RIT2_HUMAN			4	449	-			92					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Silent	SNP	ENST00000326695.5	37	c.276G>A	CCDS11921.1																																																																																				0.433	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		49	167	0	0	0	0.01441	0	49	167				
TCEB3B	51224	broad.mit.edu	37	18	44560930	44560930	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:44560930G>T	ENST00000332567.4	-	1	1058	c.706C>A	c.(706-708)Ccc>Acc	p.P236T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	236				P -> L (in Ref. 1; BAA90665). {ECO:0000305}.	regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCACACAAGGGGCGTTTTTCC	0.617																																							uc002lcr.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(706-708)CCC>ACC		elongin A2							41.0	43.0	42.0					18																	44560930		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560930G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.706C>A	18.37:g.44560930G>T	ENSP00000331302:p.Pro236Thr					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P236T	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1059	-			236	P -> L (in Ref. 1; BAA90665).				Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.706C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379821	0.24944	.	.	ENSG00000206181	ENST00000332567	T	0.06528	3.29	1.8	1.8	0.24995	.	0.811066	0.09840	U	0.749004	T	0.06188	0.0160	L	0.42245	1.32	0.09310	N	1	P	0.37864	0.61	B	0.34722	0.188	T	0.33701	-0.9858	10	0.48119	T	0.1	.	7.0871	0.25264	0.0:0.0:1.0:0.0	.	236	Q8IYF1	ELOA2_HUMAN	T	236	ENSP00000331302:P236T	ENSP00000331302:P236T	P	-	1	0	TCEB3B	42814928	0.041000	0.20044	0.002000	0.10522	0.002000	0.02628	2.265000	0.43311	1.320000	0.45209	0.462000	0.41574	CCC		0.617	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		7	20	1	0	5.18039e-06	0.00308	6.22398e-06	7	20				
CFAP53	220136	broad.mit.edu	37	18	47769339	47769339	+	Missense_Mutation	SNP	C	C	G	rs200321140		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:47769339C>G	ENST00000398545.4	-	6	1261	c.1144G>C	c.(1144-1146)Gaa>Caa	p.E382Q		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCCTCCTTTTCAAGTCTCAGC	0.403																																							uc002lee.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1144-1146)GAA>CAA		coiled-coil domain containing 11							264.0	267.0	266.0					18																	47769339		2112	4240	6352	SO:0001583	missense	220136							g.chr18:47769339C>G																												ENST00000398545.4:c.1144G>C	18.37:g.47769339C>G	ENSP00000381553:p.Glu382Gln						p.E382Q	NM_145020	NP_659457	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	6	1235	-			382			Potential.			Missense_Mutation	SNP	ENST00000398545.4	37	c.1144G>C	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	C	7.500	0.652506	0.14580	.	.	ENSG00000172361	ENST00000398545	T	0.14640	2.49	5.38	2.57	0.30868	.	0.248873	0.37219	N	0.002189	T	0.11024	0.0269	L	0.38175	1.15	0.28466	N	0.915662	B	0.23806	0.091	B	0.24394	0.053	T	0.14364	-1.0475	10	0.42905	T	0.14	-4.7036	9.5036	0.39033	0.0:0.6566:0.267:0.0764	.	382	Q96M91	CCD11_HUMAN	Q	382	ENSP00000381553:E382Q	ENSP00000381553:E382Q	E	-	1	0	CCDC11	46023337	0.997000	0.39634	0.557000	0.28306	0.031000	0.12232	1.503000	0.35715	0.231000	0.21079	-0.304000	0.09214	GAA		0.403	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			4	158	0	0	0	0.001168	0	4	158				
SMAD4	4089	broad.mit.edu	37	18	48575104	48575104	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:48575104A>T	ENST00000342988.3	+	3	836	c.298A>T	c.(298-300)Agg>Tgg	p.R100W	SMAD4_ENST00000398417.2_Missense_Mutation_p.R100W|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.R100W|SMAD4_ENST00000452201.2_Missense_Mutation_p.R100W	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	100	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCGTCTCTGGAGGTGGCCTGA	0.378																																							uc010xdp.1		NA																	40	Whole gene deletion(36)|Unknown(4)	p.0?(35)|p.?(4)|p.R100T(2)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(298-300)AGG>TGG		mothers against decapentaplegic homolog 4							155.0	142.0	146.0					18																	48575104		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575104A>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.298A>T	18.37:g.48575104A>T	ENSP00000341551:p.Arg100Trp					SMAD4_uc010xdo.1_RNA	p.R100W	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	836	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	100			MH1.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.298A>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124122	0.77436	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.80738	-1.41;-1.41;-1.41	5.32	2.73	0.32206	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.91280	0.7251	H	0.94658	3.565	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.91973	0.5588	10	0.87932	D	0	.	11.1159	0.48259	0.7077:0.2923:0.0:0.0	.	100	Q13485	SMAD4_HUMAN	W	100	ENSP00000409551:R100W;ENSP00000341551:R100W;ENSP00000381452:R100W	ENSP00000341551:R100W	R	+	1	2	SMAD4	46829102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.352000	0.34033	0.817000	0.34445	0.477000	0.44152	AGG		0.378	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		20	49	0	0	0	0.003954	0	20	49				
HMSD	284293	broad.mit.edu	37	18	61620700	61620700	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:61620700C>T	ENST00000408945.3	+	2	213	c.11C>T	c.(10-12)tCa>tTa	p.S4L	HMSD_ENST00000526932.1_5'Flank|HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	4						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ATGAGCATATCATCAGCCTTG	0.418																																							uc010dqj.2		NA																	0					0						c.(10-12)TCA>TTA		histocompatibility (minor) serpin domain							81.0	73.0	75.0					18																	61620700		1568	3582	5150	SO:0001583	missense	284293					extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61620700C>T	AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.11C>T	18.37:g.61620700C>T	ENSP00000386207:p.Ser4Leu						p.S4L	NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN			2	160	+			4						Missense_Mutation	SNP	ENST00000408945.3	37	c.11C>T	CCDS42441.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147303	0.37923	.	.	ENSG00000221887	ENST00000408945	D	0.83673	-1.75	2.49	-1.03	0.10102	Serpin domain (2);	.	.	.	.	D	0.87900	0.6294	M	0.80982	2.52	0.19945	N	0.999944	D	0.69078	0.997	D	0.73380	0.98	T	0.75769	-0.3201	9	0.87932	D	0	.	3.4361	0.07446	0.1995:0.5159:0.0:0.2846	.	4	A8MTL9	HMSD_HUMAN	L	4	ENSP00000386207:S4L	ENSP00000386207:S4L	S	+	2	0	HMSD	59771680	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.121000	0.15667	-0.019000	0.14055	0.313000	0.20887	TCA		0.418	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134010.2	XM_209104		5	22	0	0	0	0.001168	0	5	22				
CTDP1	9150	broad.mit.edu	37	18	77474845	77474845	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr18:77474845G>C	ENST00000299543.7	+	8	1532	c.1385G>C	c.(1384-1386)aGt>aCt	p.S462T	CTDP1_ENST00000075430.7_Missense_Mutation_p.S462T	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	462	Ser-rich.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GAGAGCAGCAGTGAGTCCGAG	0.677																																							uc002lnh.1		NA																	0					0						c.(1384-1386)AGT>ACT		CTD (carboxy-terminal domain, RNA polymerase II,							13.0	14.0	14.0					18																	77474845		2188	4281	6469	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77474845G>C	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1385G>C	18.37:g.77474845G>C	ENSP00000299543:p.Ser462Thr					CTDP1_uc002lni.1_Missense_Mutation_p.S462T|CTDP1_uc010drd.1_Missense_Mutation_p.S462T	p.S462T	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	8	1532	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	462			Ser-rich.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.1385G>C	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	7.948	0.744171	0.15710	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.10573	2.86;2.87	4.42	4.42	0.53409	.	1.094360	0.06762	N	0.781942	T	0.11580	0.0282	L	0.39898	1.24	0.20638	N	0.999875	B;B;B	0.14438	0.01;0.008;0.003	B;B;B	0.12156	0.005;0.007;0.002	T	0.32640	-0.9899	10	0.14252	T	0.57	-0.3262	12.8901	0.58066	0.0827:0.0:0.9173:0.0	.	343;462;462	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	T	462	ENSP00000299543:S462T;ENSP00000075430:S462T	ENSP00000075430:S462T	S	+	2	0	CTDP1	75575833	0.413000	0.25400	0.875000	0.34327	0.128000	0.20619	1.570000	0.36439	2.171000	0.68590	0.563000	0.77884	AGT		0.677	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		3	5	0	0	0	0.004672	0	3	5				
CCDC94	55702	broad.mit.edu	37	19	4249230	4249230	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:4249230C>G	ENST00000262962.7	+	2	98	c.30C>G	c.(28-30)taC>taG	p.Y10*		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	10										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		TGCAGAAATACTACCCGCCGG	0.582																																							uc002lzv.3		NA																	0					0						c.(28-30)TAC>TAG		coiled-coil domain containing 94							64.0	51.0	56.0					19																	4249230		2203	4300	6503	SO:0001587	stop_gained	55702							g.chr19:4249230C>G	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.30C>G	19.37:g.4249230C>G	ENSP00000262962:p.Tyr10*						p.Y10*	NM_018074	NP_060544	Q9BW85	CCD94_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	2	63	+			10					O75270|Q9H862|Q9NW16	Nonsense_Mutation	SNP	ENST00000262962.7	37	c.30C>G	CCDS12124.1	.	.	.	.	.	.	.	.	.	.	C	37	6.037248	0.97226	.	.	ENSG00000105248	ENST00000262962	.	.	.	5.75	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4813	8.2176	0.31521	0.0:0.7671:0.0:0.2329	.	.	.	.	X	10	.	ENSP00000262962:Y10X	Y	+	3	2	CCDC94	4200230	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.771000	0.55318	1.567000	0.49668	0.650000	0.86243	TAC		0.582	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		11	25	0	0	0	0.001855	0	11	25				
CD70	970	broad.mit.edu	37	19	6590996	6590996	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:6590996C>A	ENST00000245903.3	-	1	167	c.18G>T	c.(16-18)tcG>tcT	p.S6S	CD70_ENST00000423145.3_Silent_p.S6S	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	6					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						CCGAGCAGCCCGAACCCTCCT	0.692																																					Pancreas(183;2617 2876 10173 34193)	Pancreas(183;2617 2876 10173 34193)	uc002mfi.2		NA																	0					0						c.(16-18)TCG>TCT		tumor necrosis factor ligand superfamily, member							35.0	37.0	36.0					19																	6590996		2202	4299	6501	SO:0001819	synonymous_variant	970				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding	g.chr19:6590996C>A	L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.18G>T	19.37:g.6590996C>A						CD70_uc010xjf.1_Silent_p.S6S	p.S6S	NM_001252	NP_001243	P32970	CD70_HUMAN			1	168	-			6			Cytoplasmic (Potential).		B4DPR8|Q53XX4|Q96J57	Silent	SNP	ENST00000245903.3	37	c.18G>T	CCDS12170.1																																																																																				0.692	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457860.1			15	33	1	0	4.14922e-12	0.004007	6.15331e-12	15	33				
XAB2	56949	broad.mit.edu	37	19	7688058	7688058	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:7688058C>T	ENST00000358368.4	-	9	1274	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	XAB2_ENST00000534844.1_Missense_Mutation_p.D410N	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	413					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GTGCTCACATCGTCCAGCTGT	0.522								Direct reversal of damage;Nucleotide excision repair (NER)																															uc002mgx.2		NA																	0				central_nervous_system(2)|breast(1)|skin(1)	4						c.(1237-1239)GAT>AAT	Direct_reversal_of_damage|NER	XPA binding protein 2							172.0	138.0	149.0					19																	7688058		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7688058C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1237G>A	19.37:g.7688058C>T	ENSP00000351137:p.Asp413Asn						p.D413N	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			9	1263	-			413					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1237G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367236	0.41902	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03951	3.75;3.75	5.08	5.08	0.68730	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.121581	0.53938	D	0.000055	T	0.03011	0.0089	N	0.11870	0.19	0.80722	D	1	B	0.32396	0.369	B	0.22880	0.042	T	0.54282	-0.8317	10	0.10111	T	0.7	-28.1453	17.237	0.87001	0.0:1.0:0.0:0.0	.	413	Q9HCS7	SYF1_HUMAN	N	413;410	ENSP00000351137:D413N;ENSP00000438225:D410N	ENSP00000351137:D413N	D	-	1	0	XAB2	7594058	1.000000	0.71417	0.981000	0.43875	0.939000	0.58152	7.230000	0.78097	2.375000	0.81037	0.643000	0.83706	GAT		0.522	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		6	73	0	0	0	0.001168	0	6	73				
MUC16	94025	broad.mit.edu	37	19	9003616	9003616	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:9003616G>A	ENST00000397910.4	-	49	40227	c.40024C>T	c.(40024-40026)Cgc>Tgc	p.R13342C	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13344	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGGGCGACGCATGTCC	0.552																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40024-40026)CGC>TGC		mucin 16							246.0	203.0	217.0					19																	9003616		2034	4185	6219	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9003616G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40024C>T	19.37:g.9003616G>A	ENSP00000381008:p.Arg13342Cys					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R159C|MUC16_uc010xki.1_Intron	p.R13342C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			49	40228	-			13344			Extracellular (Potential).|SEA 9.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40024C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.339	0.620604	0.14193	.	.	ENSG00000181143	ENST00000397910	T	0.29917	1.55	3.24	-1.05	0.10036	SEA (1);	.	.	.	.	T	0.45558	0.1348	M	0.73598	2.24	.	.	.	P;D	0.65815	0.938;0.995	P;D	0.69307	0.469;0.963	T	0.50725	-0.8794	8	0.87932	D	0	0.0858	3.0157	0.06059	0.3282:0.2321:0.4396:0.0	.	20987;13342	Q8WXI7;B5ME49	MUC16_HUMAN;.	C	13342	ENSP00000381008:R13342C	ENSP00000381008:R13342C	R	-	1	0	MUC16	8864616	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.421000	0.07053	0.092000	0.17331	0.455000	0.32223	CGC		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	249	0	0	0	0.010729	0	11	249				
MUC16	94025	broad.mit.edu	37	19	9077685	9077685	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:9077685C>A	ENST00000397910.4	-	3	9964	c.9761G>T	c.(9760-9762)aGt>aTt	p.S3254I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3255	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGCTGCCACTTCCTAGGGC	0.522																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(9760-9762)AGT>ATT		mucin 16							135.0	138.0	137.0					19																	9077685		2125	4226	6351	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077685C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9761G>T	19.37:g.9077685C>A	ENSP00000381008:p.Ser3254Ile						p.S3254I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	9965	-			3255			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9761G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.476	0.088291	0.08583	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	2.19	-0.0692	0.13752	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.63793	0.918	T	0.44967	-0.9293	8	0.87932	D	0	.	4.6391	0.12540	0.0:0.6625:0.0:0.3375	.	3254	B5ME49	.	I	3254	ENSP00000381008:S3254I	ENSP00000381008:S3254I	S	-	2	0	MUC16	8938685	0.025000	0.19082	0.001000	0.08648	0.126000	0.20510	0.831000	0.27476	0.047000	0.15862	0.313000	0.20887	AGT		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	128	1	0	3.73988e-18	0.00632	6.26336e-18	23	128				
CDC37	11140	broad.mit.edu	37	19	10505933	10505933	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:10505933T>C	ENST00000222005.2	-	4	627	c.574A>G	c.(574-576)Att>Gtt	p.I192V		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	192					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		ATGCACCAAATGACCAGGTAA	0.582																																							uc002mof.1		NA																	0					0						c.(574-576)ATT>GTT		cell division cycle 37 protein							234.0	202.0	213.0					19																	10505933		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505933T>C	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.574A>G	19.37:g.10505933T>C	ENSP00000222005:p.Ile192Val					CDC37_uc002moe.1_Missense_Mutation_p.I147V|CDC37_uc010dxf.1_Missense_Mutation_p.I29V|CDC37_uc002mog.1_Missense_Mutation_p.I192V|CDC37_uc002moh.2_Missense_Mutation_p.I192V	p.I192V	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	4	690	-			192					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.574A>G	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114706	0.37339	.	.	ENSG00000105401	ENST00000222005	T	0.44482	0.92	4.01	4.01	0.46588	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.76838	2.35	0.58432	D	0.999999	B;B	0.19073	0.033;0.033	B;B	0.15870	0.014;0.014	T	0.49588	-0.8924	10	0.66056	D	0.02	.	11.1837	0.48644	0.0:0.0:0.0:1.0	.	192;192	Q6FG59;Q16543	.;CDC37_HUMAN	V	192	ENSP00000222005:I192V	ENSP00000222005:I192V	I	-	1	0	CDC37	10366933	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.208000	0.77907	1.586000	0.49944	0.379000	0.24179	ATT		0.582	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		34	175	0	0	0	0.00874	0	34	175				
ZNF20	7568	broad.mit.edu	37	19	12243512	12243512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:12243512C>A	ENST00000334213.5	-	4	1713	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*	ZNF20_ENST00000485451.1_5'Flank|ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						TGAGTCCTTTCATGATATCGA	0.413																																							uc002mtf.1		NA																	0					0						c.(1489-1491)GAA>TAA		zinc finger protein 20							171.0	182.0	178.0					19																	12243512		2201	4298	6499	SO:0001587	stop_gained	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12243512C>A	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1489G>T	19.37:g.12243512C>A	ENSP00000335437:p.Glu497*					ZNF20_uc002mte.1_Nonsense_Mutation_p.E462*|ZNF20_uc002mtg.1_Nonsense_Mutation_p.E497*	p.E497*	NM_021143	NP_066966	P17024	ZNF20_HUMAN			4	1632	-			497			C2H2-type 14.		Q8N457|Q9UG41	Nonsense_Mutation	SNP	ENST00000334213.5	37	c.1489G>T	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	C	37	6.311530	0.97462	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	.	.	.	0.94	-1.45	0.08828	.	.	.	.	.	.	.	.	.	.	.	0.49483	D	0.999791	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	3.9357	0.09305	0.0:0.468:0.0:0.532	.	.	.	.	X	497	.	ENSP00000292241:E497X	E	-	1	0	ZNF20	12104512	0.000000	0.05858	0.002000	0.10522	0.967000	0.64934	-3.880000	0.00343	-0.568000	0.06038	0.313000	0.20887	GAA		0.413	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		31	119	1	0	2.61193e-14	0.009535	4.03972e-14	31	119				
OR7C2	26658	broad.mit.edu	37	19	15052757	15052757	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:15052757G>T	ENST00000248072.3	+	1	457	c.457G>T	c.(457-459)Gtc>Ttc	p.V153F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GTGCATCAGTGTCATGGGTTC	0.517																																							uc010xoc.1		NA																	0				ovary(2)|skin(1)	3						c.(457-459)GTC>TTC		olfactory receptor, family 7, subfamily C,							198.0	193.0	195.0					19																	15052757		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052757G>T	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.457G>T	19.37:g.15052757G>T	ENSP00000248072:p.Val153Phe						p.V153F	NM_012377	NP_036509	O60412	OR7C2_HUMAN			1	457	+	Ovarian(108;0.203)		153			Helical; Name=4; (Potential).		O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.457G>T	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	g	7.308	0.614506	0.14129	.	.	ENSG00000127529	ENST00000248072	T	0.00039	8.85	4.19	-2.46	0.06461	GPCR, rhodopsin-like superfamily (1);	0.646542	0.12699	U	0.446493	T	0.00039	0.0001	N	0.02674	-0.535	0.09310	N	1	B	0.17038	0.02	B	0.28991	0.097	T	0.09228	-1.0684	10	0.22109	T	0.4	.	0.7686	0.01020	0.2981:0.1627:0.3727:0.1665	.	153	O60412	OR7C2_HUMAN	F	153	ENSP00000248072:V153F	ENSP00000248072:V153F	V	+	1	0	OR7C2	14913757	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-2.674000	0.00842	-0.067000	0.12976	-0.426000	0.05927	GTC		0.517	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			23	150	1	0	1.55469e-16	0.00333	2.52714e-16	23	150				
MAP1S	55201	broad.mit.edu	37	19	17844205	17844205	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:17844205G>T	ENST00000324096.4	+	6	3143	c.2992G>T	c.(2992-2994)Gcc>Tcc	p.A998S	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A972S	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	998	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGCGCTACTGGCCAGCAAGCA	0.627																																							uc002nhe.1		NA																	0				central_nervous_system(1)	1						c.(2992-2994)GCC>TCC		BPY2 interacting protein 1							36.0	27.0	30.0					19																	17844205		2202	4299	6501	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17844205G>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2992G>T	19.37:g.17844205G>T	ENSP00000325313:p.Ala998Ser					MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.A246S|MAP1S_uc010xpv.1_Missense_Mutation_p.A972S	p.A998S	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			6	3001	+			998			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2992G>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923485	0.33908	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.19250	2.16;2.16	4.49	4.49	0.54785	.	0.000000	0.48767	D	0.000168	T	0.20170	0.0485	L	0.50333	1.59	0.30252	N	0.793971	P;P	0.52316	0.952;0.782	B;B	0.43413	0.419;0.199	T	0.13388	-1.0511	10	0.44086	T	0.13	-13.9996	8.5088	0.33204	0.1088:0.0:0.8912:0.0	.	972;998	B4DH53;Q66K74	.;MAP1S_HUMAN	S	998;972	ENSP00000325313:A998S;ENSP00000439243:A972S	ENSP00000325313:A998S	A	+	1	0	MAP1S	17705205	1.000000	0.71417	0.041000	0.18516	0.011000	0.07611	4.699000	0.61796	2.023000	0.59567	0.655000	0.94253	GCC		0.627	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		3	16	1	0	1.23904e-05	0.000602	1.45697e-05	3	16				
NCAN	1463	broad.mit.edu	37	19	19339151	19339151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:19339151C>T	ENST00000252575.6	+	8	2821	c.2722C>T	c.(2722-2724)Cag>Tag	p.Q908*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.Q359*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	908					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGTGGAGACCCAGGGAACATC	0.622																																							uc002nlz.2		NA																	0				ovary(4)	4						c.(2722-2724)CAG>TAG		chondroitin sulfate proteoglycan 3 precursor							85.0	88.0	87.0					19																	19339151		2203	4300	6503	SO:0001587	stop_gained	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339151C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2722C>T	19.37:g.19339151C>T	ENSP00000252575:p.Gln908*					NCAN_uc010ecc.1_Nonsense_Mutation_p.Q472*	p.Q908*	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2821	+			908					Q9UPK6	Nonsense_Mutation	SNP	ENST00000252575.6	37	c.2722C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954203	0.92726	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	.	.	.	3.49	1.19	0.21007	.	0.581258	0.13383	N	0.391979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	9.5056	0.39044	0.0:0.5194:0.4806:0.0	.	.	.	.	X	922;908;359	.	ENSP00000252575:Q908X	Q	+	1	0	NCAN	19200151	0.008000	0.16893	0.310000	0.25168	0.379000	0.30106	-0.083000	0.11286	0.442000	0.26555	0.491000	0.48974	CAG		0.622	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		13	76	0	0	0	0.004007	0	13	76				
ZNF100	163227	broad.mit.edu	37	19	21926894	21926894	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:21926894C>A	ENST00000358296.6	-	4	445	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	ZNF100_ENST00000305570.6_Missense_Mutation_p.D19Y	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTGATCAGGTCTGGCTTAGTG	0.408																																							uc002nqi.2		NA																	0					0						c.(247-249)GAC>TAC		zinc finger protein 100							102.0	107.0	106.0					19																	21926894		2203	4300	6503	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21926894C>A	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.247G>T	19.37:g.21926894C>A	ENSP00000351042:p.Asp83Tyr					ZNF100_uc002nqh.2_Missense_Mutation_p.D19Y	p.D83Y	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			4	446	-			83			KRAB.		Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.247G>T	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	7.955	0.745724	0.15710	.	.	ENSG00000197020	ENST00000358296	T	0.00976	5.48	0.456	-0.714	0.11219	Krueppel-associated box (3);	.	.	.	.	T	0.03263	0.0095	M	0.71871	2.18	0.09310	N	1	B;D	0.76494	0.377;0.999	B;D	0.69307	0.234;0.963	T	0.34925	-0.9809	8	0.62326	D	0.03	.	.	.	.	.	83;137	Q8IYN0;Q4G131	ZN100_HUMAN;.	Y	83	ENSP00000351042:D83Y	ENSP00000351042:D83Y	D	-	1	0	ZNF100	21718734	0.000000	0.05858	0.012000	0.15200	0.126000	0.20510	0.161000	0.16481	-0.339000	0.08401	0.298000	0.19748	GAC		0.408	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		14	109	1	0	1.99824e-07	0.00499	2.52521e-07	14	109				
ZNF98	148198	broad.mit.edu	37	19	22574916	22574916	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:22574916C>A	ENST00000357774.5	-	4	1242	c.1121G>T	c.(1120-1122)gGa>gTa	p.G374V		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(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)				GGGTTTCTCTCCAGAATGAAT	0.373																																							uc002nqt.2		NA																	0				ovary(1)|skin(1)	2						c.(1120-1122)GGA>GTA		zinc finger protein 98							18.0	18.0	18.0					19																	22574916		1604	3503	5107	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574916C>A		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.1121G>T	19.37:g.22574916C>A	ENSP00000350418:p.Gly374Val						p.G374V	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	1243	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	374						Missense_Mutation	SNP	ENST00000357774.5	37	c.1121G>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	14.25	2.479608	0.44044	.	.	ENSG00000197360	ENST00000357774	T	0.23552	1.9	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44540	0.1298	M	0.71920	2.185	0.58432	D	0.999999	D	0.67145	0.996	D	0.70227	0.968	T	0.43015	-0.9417	9	0.87932	D	0	.	9.428	0.38592	0.0:1.0:0.0:0.0	.	374	A6NK75	ZNF98_HUMAN	V	374	ENSP00000350418:G374V	ENSP00000350418:G374V	G	-	2	0	ZNF98	22366756	0.021000	0.18746	0.048000	0.18961	0.057000	0.15508	1.965000	0.40471	0.676000	0.31285	0.305000	0.20034	GGA		0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		4	21	1	0	1.06961e-07	0.00308	1.37474e-07	4	21				
ZNF99	7652	broad.mit.edu	37	19	22940385	22940385	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:22940385G>A	ENST00000596209.1	-	4	2416	c.2326C>T	c.(2326-2328)Ctt>Ttt	p.L776F	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.L685F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTTCTAAGGGCTGAGAAA	0.353																																							uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2053-2055)CTT>TTT		zinc finger protein 99							31.0	33.0	33.0					19																	22940385		1946	4122	6068	SO:0001583	missense	7652							g.chr19:22940385G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2326C>T	19.37:g.22940385G>A	ENSP00000472969:p.Leu776Phe						p.L685F	NM_001080409	NP_001073878					5	2053	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2053C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	9.484	1.098792	0.20552	.	.	ENSG00000213973	ENST00000397104	T	0.52057	0.68	1.26	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61299	0.2336	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.48525	-0.9028	9	0.54805	T	0.06	.	9.4522	0.38734	0.0:0.0:1.0:0.0	.	685	A8MXY4	ZNF99_HUMAN	F	685	ENSP00000380293:L685F	ENSP00000380293:L685F	L	-	1	0	ZNF99	22732225	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.275000	0.18698	0.663000	0.31027	0.380000	0.24917	CTT		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		7	42	0	0	0	0.00308	0	7	42				
TSHZ3	57616	broad.mit.edu	37	19	31768982	31768983	+	Silent	DNP	GG	GG	AT			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:31768982_31768983GG>AT	ENST00000240587.4	-	2	2043_2044	c.1716_1717CC>AT	c.(1714-1719)ccCCtg>ccATtg	p.572_573PL>PL		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	572					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGGGTTTCAGGGGCGTGCTCT	0.589																																							uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1714-1719)CCCCTG>CCATTG		zinc finger protein 537																																				SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768982_31768983GG>AT	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1716_1717delinsAT	19.37:g.31768982_31768983delinsAT							p.572_573PL>PL	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1781_1782	-	Esophageal squamous(110;0.226)		572_573					Q9H0G6|Q9P254	Silent	DNP	ENST00000240587.4	37	c.1716_1717CC>AT	CCDS12421.2																																																																																				0.589	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		20	96	0	0	0	0.004672	0	20	96				
CHST8	64377	broad.mit.edu	37	19	34263536	34263536	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:34263536G>A	ENST00000262622.4	+	4	1601	c.843G>A	c.(841-843)ccG>ccA	p.P281P	CHST8_ENST00000434302.1_Silent_p.P281P|CHST8_ENST00000438847.3_Silent_p.P281P	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	281					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACTATCACCCGGTCTTCGGCA	0.632																																							uc002nus.3		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(841-843)CCG>CCA		carbohydrate (N-acetylgalactosamine 4-0)							86.0	83.0	84.0					19																	34263536		2203	4300	6503	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263536G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.843G>A	19.37:g.34263536G>A						CHST8_uc002nut.3_Silent_p.P281P|CHST8_uc002nuu.2_Silent_p.P281P	p.P281P	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1348	+	Esophageal squamous(110;0.162)		281			Lumenal (Potential).		Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.843G>A	CCDS12433.1																																																																																				0.632	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		22	83	0	0	0	0.012319	0	22	83				
ZBTB32	27033	broad.mit.edu	37	19	36205655	36205655	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:36205655C>G	ENST00000392197.2	+	3	445	c.127C>G	c.(127-129)Cac>Gac	p.H43D	ZBTB32_ENST00000262630.3_Missense_Mutation_p.H43D			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	43	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTCCCCGCCCACAGCCTGGT	0.637																																							uc002oay.2		NA																	0				ovary(1)|skin(1)	2						c.(127-129)CAC>GAC		zinc finger and BTB domain containing 32							44.0	48.0	47.0					19																	36205655		2203	4300	6503	SO:0001583	missense	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205655C>G	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.127C>G	19.37:g.36205655C>G	ENSP00000376035:p.His43Asp					ZBTB32_uc002oaz.2_RNA	p.H43D	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	337	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		43			BTB.		Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	c.127C>G	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520278	0.85495	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.37752	1.18;1.18	5.54	5.54	0.83059	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.48767	D	0.000164	T	0.70988	0.3287	H	0.95365	3.66	0.46849	D	0.99922	D	0.89917	1.0	D	0.97110	1.0	T	0.79082	-0.1949	10	0.87932	D	0	-14.243	14.8575	0.70351	0.0:1.0:0.0:0.0	.	43	Q9Y2Y4	ZBT32_HUMAN	D	43	ENSP00000262630:H43D;ENSP00000376035:H43D	ENSP00000262630:H43D	H	+	1	0	ZBTB32	40897495	0.990000	0.36364	0.996000	0.52242	0.977000	0.68977	2.876000	0.48498	2.884000	0.98904	0.655000	0.94253	CAC		0.637	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		9	38	0	0	0	0.008291	0	9	38				
PROSER3	148137	broad.mit.edu	37	19	36259083	36259083	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:36259083G>T	ENST00000544099.1	+	10	1310	c.1247G>T	c.(1246-1248)cGa>cTa	p.R416L	AC002398.13_ENST00000589397.1_RNA|C19orf55_ENST00000396908.4_Missense_Mutation_p.D415Y			Q2NL68	PRSR3_HUMAN		0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTCCAGGACGATCCCGTGCT	0.632																																							uc002obq.1		NA																	0				ovary(1)	1						c.(1246-1248)CGA>CTA		hypothetical protein LOC148137							32.0	38.0	36.0					19																	36259083		1966	4167	6133	SO:0001583	missense	148137							g.chr19:36259083G>T																												ENST00000544099.1:c.1247G>T	19.37:g.36259083G>T	ENSP00000467267:p.Arg416Leu						p.R416L	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1320	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		Error:Variant_position_missing_in_Q2NL68_after_alignment					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37	c.1247G>T		.	.	.	.	.	.	.	.	.	.	G	18.28	3.588441	0.66105	.	.	ENSG00000167595	ENST00000396908	T	0.64803	-0.12	5.03	3.99	0.46301	.	.	.	.	.	T	0.45915	0.1366	N	0.08118	0	0.29923	N	0.822549	.	.	.	.	.	.	T	0.52041	-0.8628	7	0.87932	D	0	-8.683	9.8769	0.41209	0.0972:0.0:0.9028:0.0	.	.	.	.	Y	415	ENSP00000380116:D415Y	ENSP00000380116:D415Y	D	+	1	0	C19orf55	40950923	0.995000	0.38212	0.972000	0.41901	0.656000	0.38851	4.634000	0.61325	1.440000	0.47531	0.563000	0.77884	GAT		0.632	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			9	31	1	0	0.00185496	0.001855	0.00203139	9	31				
NPHS1	4868	broad.mit.edu	37	19	36340164	36340164	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:36340164G>T	ENST00000378910.5	-	7	813	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.P272T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	272	Ig-like C2-type 3.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGCTAAGGGATTACCCCCT	0.677																																							uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.(814-816)CCC>ACC		nephrin precursor							38.0	35.0	36.0					19																	36340164		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340164G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.814C>A	19.37:g.36340164G>T	ENSP00000368190:p.Pro272Thr						p.P272T	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	814	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		272			Ig-like C2-type 3.|Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.814C>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707898	0.68615	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.92495	-3.05;-3.05	4.8	4.8	0.61643	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97040	0.9033	H	0.95187	3.635	0.52099	D	0.999943	D	0.89917	1.0	D	0.97110	1.0	D	0.97622	1.0136	10	0.72032	D	0.01	-19.078	13.2248	0.59909	0.0:0.0:1.0:0.0	.	272	O60500	NPHN_HUMAN	T	272	ENSP00000368190:P272T;ENSP00000343634:P272T	ENSP00000343634:P272T	P	-	1	0	NPHS1	41032004	1.000000	0.71417	0.693000	0.30195	0.703000	0.40648	6.187000	0.72039	2.500000	0.84329	0.591000	0.81541	CCC		0.677	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			7	51	1	0	0.00198382	0.001984	0.00215825	7	51				
ZNF382	84911	broad.mit.edu	37	19	37117284	37117284	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:37117284G>C	ENST00000292928.2	+	5	598	c.485G>C	c.(484-486)gGt>gCt	p.G162A	CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Missense_Mutation_p.G161A|ZNF382_ENST00000423582.1_Missense_Mutation_p.G113A|ZNF382_ENST00000435416.1_Missense_Mutation_p.G161A	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	162	Represses transcription. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGAAGTTTGGTGACAGTACT	0.343																																							uc002oek.2		NA																	0					0						c.(484-486)GGT>GCT		zinc finger protein 382							99.0	108.0	105.0					19																	37117284		2200	4299	6499	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117284G>C	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.485G>C	19.37:g.37117284G>C	ENSP00000292928:p.Gly162Ala					ZNF382_uc010efa.2_Missense_Mutation_p.G113A|ZNF382_uc010efb.2_Missense_Mutation_p.G161A|ZNF382_uc002oel.2_Missense_Mutation_p.G161A	p.G162A	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	598	+	Esophageal squamous(110;0.198)		162			Represses transcription (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.485G>C	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	0.068	-1.208656	0.01568	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.05319	3.46;3.59;3.6;3.6	4.83	0.303	0.15791	.	0.704689	0.12326	N	0.478792	T	0.02047	0.0064	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.022	B;B;B	0.15484	0.013;0.013;0.004	T	0.45556	-0.9253	10	0.25106	T	0.35	.	1.0936	0.01668	0.1739:0.1528:0.3581:0.3152	.	161;161;162	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	A	113;162;161;161	ENSP00000389722:G113A;ENSP00000292928:G162A;ENSP00000407593:G161A;ENSP00000410113:G161A	ENSP00000292928:G162A	G	+	2	0	ZNF382	41809124	0.000000	0.05858	0.425000	0.26659	0.193000	0.23685	-0.318000	0.08050	0.326000	0.23384	-0.224000	0.12420	GGT		0.343	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		25	102	0	0	0	0.005443	0	25	102				
RYR1	6261	broad.mit.edu	37	19	39003104	39003104	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:39003104G>T	ENST00000359596.3	+	63	9453	c.9453G>T	c.(9451-9453)caG>caT	p.Q3151H	RYR1_ENST00000355481.4_Missense_Mutation_p.Q3151H|RYR1_ENST00000360985.3_Missense_Mutation_p.Q3151H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3151					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCAGCACCAGTTCGGAGATG	0.642																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(9451-9453)CAG>CAT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						67.0	57.0	61.0					19																	39003104		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39003104G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9453G>T	19.37:g.39003104G>T	ENSP00000352608:p.Gln3151His					RYR1_uc002oiu.2_Missense_Mutation_p.Q3151H|RYR1_uc002oiv.1_Missense_Mutation_p.Q71H|RYR1_uc010xuf.1_Missense_Mutation_p.Q71H	p.Q3151H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		63	9583	+	all_cancers(60;7.91e-06)		3151					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9453G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690436	0.29962	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96774	-4.11;-4.12;-4.11	4.39	3.34	0.38264	.	0.093166	0.44902	U	0.000402	D	0.92004	0.7467	L	0.31752	0.955	0.41283	D	0.986929	B;B;B	0.14438	0.003;0.01;0.006	B;B;B	0.13407	0.004;0.009;0.004	D	0.87803	0.2626	10	0.31617	T	0.26	.	12.3671	0.55234	0.0:0.0:0.6964:0.3036	.	3151;3151;3151	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	3151;3151;3151;71	ENSP00000352608:Q3151H;ENSP00000347667:Q3151H;ENSP00000354254:Q3151H	ENSP00000347667:Q3151H	Q	+	3	2	RYR1	43694944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.291000	0.51764	1.035000	0.39972	0.591000	0.81541	CAG		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			19	78	1	0	7.45023e-12	0.010504	1.09314e-11	19	78				
LGALS4	3960	broad.mit.edu	37	19	39303124	39303124	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:39303124G>C	ENST00000307751.4	-	2	558	c.81C>G	c.(79-81)ctC>ctG	p.L27L	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	27	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCCCACGTTGAGCCCGCCCG	0.612																																							uc002ojg.2		NA																	0				ovary(1)|skin(1)	2						c.(79-81)CTC>CTG		galectin-4							72.0	65.0	67.0					19																	39303124		2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39303124G>C		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.81C>G	19.37:g.39303124G>C						LGALS4_uc010xuj.1_Silent_p.L27L	p.L27L	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		2	295	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		27			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.81C>G	CCDS12521.1																																																																																				0.612	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		7	87	0	0	0	0.006214	0	7	87				
SIRT2	22933	broad.mit.edu	37	19	39369807	39369807	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:39369807C>G	ENST00000249396.7	-	16	1459	c.1158G>C	c.(1156-1158)gaG>gaC	p.E386D	RINL_ENST00000598904.1_5'Flank|RINL_ENST00000591812.1_5'Flank|RINL_ENST00000340740.3_5'Flank|SIRT2_ENST00000358931.5_3'UTR|SIRT2_ENST00000392081.2_Missense_Mutation_p.E349D	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	386					autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			ACTGGGGTTTCTCCCTCTCTG	0.657																																							uc002ojt.1		NA																	0					0						c.(1156-1158)GAG>GAC		sirtuin 2 isoform 1							71.0	65.0	67.0					19																	39369807		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39369807C>G	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.1158G>C	19.37:g.39369807C>G	ENSP00000249396:p.Glu386Asp					RINL_uc002ojq.2_5'Flank|RINL_uc010xuo.1_5'Flank|SIRT2_uc010egh.1_3'UTR|SIRT2_uc010egi.1_Missense_Mutation_p.E349D|SIRT2_uc002ojs.1_Missense_Mutation_p.E366D|SIRT2_uc002oju.1_Missense_Mutation_p.E349D|SIRT2_uc010egj.1_Missense_Mutation_p.E349D|SIRT2_uc002ojv.1_Missense_Mutation_p.E384D	p.E386D	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		16	1358	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		386					A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.1158G>C	CCDS12523.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.89|11.89	1.773196|1.773196	0.31411|0.31411	.|.	.|.	ENSG00000068903|ENSG00000068903	ENST00000249396;ENST00000392081|ENST00000456703	T;T|.	0.31510|.	1.49;1.51|.	4.8|4.8	1.45|1.45	0.22620|0.22620	.|.	0.458821|0.458821	0.20648|0.20648	N|N	0.088264|0.088264	T|T	0.44519|0.44519	0.1297|0.1297	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	D;D;D|.	0.61697|.	0.99;0.982;0.99|.	D;D;D|.	0.72982|.	0.979;0.952;0.979|.	T|T	0.27706|0.27706	-1.0066|-1.0066	10|7	0.38643|0.49607	T|T	0.18|0.09	-10.9807|-10.9807	4.6972|4.6972	0.12809|0.12809	0.0:0.574:0.1596:0.2664|0.0:0.574:0.1596:0.2664	.|.	349;386;366|.	Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3|.	.;SIRT2_HUMAN;.|.	D|Q	386;349|371	ENSP00000249396:E386D;ENSP00000375931:E349D|.	ENSP00000249396:E386D|ENSP00000400725:E371Q	E|E	-|-	3|1	2|0	SIRT2|SIRT2	44061647|44061647	0.373000|0.373000	0.25073|0.25073	0.773000|0.773000	0.31616|0.31616	0.131000|0.131000	0.20780|0.20780	2.193000|2.193000	0.42658|0.42658	0.196000|0.196000	0.20367|0.20367	0.460000|0.460000	0.39030|0.39030	GAG|GAA		0.657	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			3	72	0	0	0	0.009096	0	3	72				
IFNL3	282617	broad.mit.edu	37	19	39735580	39735580	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:39735580C>G	ENST00000413851.2	-	1	66	c.28G>C	c.(28-30)Gtg>Ctg	p.V10L	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	10					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GCCATCAGCACCAGCACTGGC	0.637																																							uc010xut.1		NA																	0					0						c.(28-30)GTG>CTG		interleukin 28B							69.0	64.0	66.0					19																	39735580		2203	4300	6503	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39735580C>G	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.28G>C	19.37:g.39735580C>G	ENSP00000409000:p.Val10Leu					IL28B_uc010xuu.1_Missense_Mutation_p.V10L	p.V10L	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	32	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		10					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.28G>C	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932681	0.34096	.	.	ENSG00000197110	ENST00000413851	T	0.11277	2.79	2.58	-4.92	0.03075	.	2.313730	0.01826	N	0.034368	T	0.09158	0.0226	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36866	-0.9730	10	0.62326	D	0.03	0.1842	4.3987	0.11376	0.0:0.3801:0.3245:0.2954	.	10	Q8IZI9	IL28B_HUMAN	L	10	ENSP00000409000:V10L	ENSP00000409000:V10L	V	-	1	0	IL28B	44427420	0.000000	0.05858	0.010000	0.14722	0.023000	0.10783	-1.884000	0.01622	-0.990000	0.03481	-0.474000	0.04947	GTG		0.637	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		18	67	0	0	0	0.012319	0	18	67				
SPTBN4	57731	broad.mit.edu	37	19	40978613	40978613	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:40978613G>A	ENST00000352632.3	+	2	171	c.85G>A	c.(85-87)Gat>Aat	p.D29N	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D29N|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D29N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D29N|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D29N			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	29	Actin-binding.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGAGTCCGGATCGGGGCTG	0.677																																							uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(85-87)GAT>AAT		spectrin, beta, non-erythrocytic 4 isoform							35.0	28.0	30.0					19																	40978613		2202	4300	6502	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40978613G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.85G>A	19.37:g.40978613G>A	ENSP00000263373:p.Asp29Asn					SPTBN4_uc002onx.2_Missense_Mutation_p.D29N|SPTBN4_uc002onz.2_Missense_Mutation_p.D29N	p.D29N	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	171	+			29			Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.85G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971732	0.74246	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.77489	-1.04;-1.05;-1.1	6.17	6.17	0.99709	.	0.514922	0.17666	U	0.166150	T	0.75642	0.3877	L	0.51422	1.61	0.80722	D	1	P;B	0.40970	0.734;0.002	B;B	0.40165	0.321;0.004	T	0.75557	-0.3276	10	0.48119	T	0.1	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	29;29	Q9H254;Q71S06	SPTN4_HUMAN;.	N	29	ENSP00000263373:D29N;ENSP00000340345:D29N;ENSP00000340741:D29N	ENSP00000340345:D29N	D	+	1	0	SPTBN4	45670453	0.996000	0.38824	0.583000	0.28640	0.977000	0.68977	4.641000	0.61375	2.941000	0.99782	0.655000	0.94253	GAT		0.677	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	22	0	0	0	0.004672	0	3	22				
CD79A	973	broad.mit.edu	37	19	42383065	42383065	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:42383065G>A	ENST00000221972.3	+	2	270	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	CD79A_ENST00000444740.2_Missense_Mutation_p.G29R	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	29					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						CACAGGCCCTGGGTGCCAGGC	0.627			"""O, S"""		DLBCL																																		uc002orv.2		NA		Dom	yes		19	19q13.2	973	O|S	"""CD79a molecule, immunoglobulin-associated alpha"""			L			DLBCL		0				ovary(2)|pancreas(1)	3						c.(85-87)GGG>AGG		CD79A antigen isoform 1 precursor							30.0	30.0	30.0					19																	42383065		2203	4300	6503	SO:0001583	missense	973				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42383065G>A	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.85G>A	19.37:g.42383065G>A	ENSP00000221972:p.Gly29Arg					CD79A_uc002oru.2_Missense_Mutation_p.G29R	p.G29R	NM_001783	NP_001774	P11912	CD79A_HUMAN			2	270	+			29					A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	c.85G>A	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	G	2.314	-0.357123	0.05138	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	T	0.76316	-1.01	4.53	-1.4	0.08968	Immunoglobulin-like (1);	0.254926	0.28312	N	0.015808	T	0.53158	0.1779	L	0.34521	1.04	0.09310	N	1	B;P	0.37122	0.335;0.583	B;B	0.29942	0.071;0.109	T	0.47923	-0.9079	10	0.15499	T	0.54	-9.8795	3.7659	0.08622	0.3643:0.0:0.4733:0.1625	.	29;29	P11912;A0N775	CD79A_HUMAN;.	R	29	ENSP00000221972:G29R	ENSP00000221972:G29R	G	+	1	0	CD79A	47074905	0.000000	0.05858	0.004000	0.12327	0.985000	0.73830	-1.377000	0.02558	-0.080000	0.12685	0.650000	0.86243	GGG		0.627	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			5	31	0	0	0	0.001168	0	5	31				
ZNF526	116115	broad.mit.edu	37	19	42728695	42728695	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:42728695C>T	ENST00000301215.3	+	3	365	c.140C>T	c.(139-141)gCc>gTc	p.A47V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	47					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GAGGCCCTTGCCTCATCCCTC	0.537																																							uc002osz.1		NA																	0					0						c.(139-141)GCC>GTC		zinc finger protein 526							180.0	153.0	162.0					19																	42728695		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42728695C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.140C>T	19.37:g.42728695C>T	ENSP00000301215:p.Ala47Val						p.A47V	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	296	+		Prostate(69;0.0704)	47					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.140C>T	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653168	0.47362	.	.	ENSG00000167625	ENST00000301215	T	0.09817	2.94	4.61	3.5	0.40072	.	0.099589	0.42053	D	0.000780	T	0.07458	0.0188	N	0.24115	0.695	0.20926	N	0.999821	P	0.47762	0.9	B	0.42214	0.38	T	0.30475	-0.9977	9	.	.	.	-12.3249	9.4867	0.38933	0.1556:0.6927:0.1517:0.0	.	47	Q8TF50	ZN526_HUMAN	V	47	ENSP00000301215:A47V	.	A	+	2	0	ZNF526	47420535	0.956000	0.32656	0.995000	0.50966	0.985000	0.73830	1.570000	0.36439	2.562000	0.86427	0.462000	0.41574	GCC		0.537	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		34	106	0	0	0	0.004289	0	34	106				
CADM4	199731	broad.mit.edu	37	19	44129230	44129230	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:44129230C>A	ENST00000222374.2	-	7	976	c.928G>T	c.(928-930)Gac>Tac	p.D310Y	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	310					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CTGCTCTCACCGTAGACCACA	0.672																																							uc002oxc.1		NA																	0					0						c.(928-930)GAC>TAC		cell adhesion molecule 4 precursor							31.0	23.0	26.0					19																	44129230		2203	4300	6503	SO:0001630	splice_region_variant	199731				cell adhesion	integral to membrane		g.chr19:44129230C>A	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.928+1G>T	19.37:g.44129230C>A							p.D310Y	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			7	977	-		Prostate(69;0.0199)	310			Extracellular (Potential).		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.928G>T	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318607	0.60524	.	.	ENSG00000105767	ENST00000222374	D	0.82984	-1.67	5.14	5.14	0.70334	Immunoglobulin-like fold (1);	0.208574	0.36167	N	0.002751	T	0.78104	0.4231	L	0.46157	1.445	0.53688	D	0.999979	B	0.15473	0.013	B	0.09377	0.004	T	0.72481	-0.4280	9	.	.	.	.	16.154	0.81644	0.0:1.0:0.0:0.0	.	310	Q8NFZ8	CADM4_HUMAN	Y	310	ENSP00000222374:D310Y	.	D	-	1	0	CADM4	48821070	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.448000	0.66612	2.421000	0.82119	0.555000	0.69702	GAC		0.672	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296	Missense_Mutation	9	27	1	0	3.86212e-05	0.008291	4.46541e-05	9	27				
ZNF229	7772	broad.mit.edu	37	19	44933973	44933973	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:44933973C>A	ENST00000588931.1	-	6	1416	c.983G>T	c.(982-984)cGg>cTg	p.R328L	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.R322L|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCTGACGCCCCGACCACGCTC	0.498																																							uc002oze.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(982-984)CGG>CTG		zinc finger protein 229							59.0	57.0	58.0					19																	44933973		1932	4150	6082	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933973C>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.983G>T	19.37:g.44933973C>A	ENSP00000466519:p.Arg328Leu					ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.R322L	p.R328L	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	1417	-		Prostate(69;0.0352)	328					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.983G>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644447	0.29246	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.15	-5.21	0.02815	.	.	.	.	.	T	0.29423	0.0733	L	0.47716	1.5	0.09310	N	1	B	0.24092	0.097	B	0.15870	0.014	T	0.28618	-1.0038	8	0.87932	D	0	.	6.1845	0.20490	0.0:0.163:0.1391:0.698	.	328	Q9UJW7	ZN229_HUMAN	L	328	.	ENSP00000291187:R328L	R	-	2	0	ZNF229	49625813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.173000	0.16724	-1.220000	0.02594	-1.195000	0.01675	CGG		0.498	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		7	32	1	0	8.12818e-05	0.001984	9.20528e-05	7	32				
BCAM	4059	broad.mit.edu	37	19	45322685	45322685	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:45322685G>T	ENST00000270233.6	+	12	1578	c.1556G>T	c.(1555-1557)gGc>gTc	p.G519V	BCAM_ENST00000589651.1_Missense_Mutation_p.G519V	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	519	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCCGCGATGGCATCTCCTGT	0.642																																							uc002ozu.2		NA																	0				skin(1)	1						c.(1555-1557)GGC>GTC		basal cell adhesion molecule isoform 1							78.0	85.0	82.0					19																	45322685		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322685G>T	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1556G>T	19.37:g.45322685G>T	ENSP00000270233:p.Gly519Val					BCAM_uc002ozt.1_Missense_Mutation_p.G519V	p.G519V	NM_005581	NP_005572	P50895	BCAM_HUMAN			12	1600	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	519			Extracellular (Potential).|Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1556G>T	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	13.97	2.397276	0.42512	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.13778	2.56;2.56	4.27	3.18	0.36537	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22085	0.0532	L	0.35854	1.095	0.34834	D	0.74003	D	0.89917	1.0	D	0.97110	1.0	T	0.17561	-1.0365	9	0.17832	T	0.49	-23.2664	9.3785	0.38297	0.0:0.0:0.786:0.214	.	519	P50895	BCAM_HUMAN	V	519	ENSP00000270233:G519V;ENSP00000375817:G519V	ENSP00000270233:G519V	G	+	2	0	BCAM	50014525	0.999000	0.42202	0.064000	0.19789	0.576000	0.36127	5.106000	0.64597	0.864000	0.35578	0.538000	0.68166	GGC		0.642	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		16	68	1	0	4.96729e-08	0.008871	6.41415e-08	16	68				
PPFIA3	8541	broad.mit.edu	37	19	49643283	49643283	+	Missense_Mutation	SNP	G	G	A	rs566360934		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:49643283G>A	ENST00000334186.4	+	18	2655	c.2306G>A	c.(2305-2307)cGt>cAt	p.R769H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R769H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	769					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCCATAGGCCGTCTCTTTGGC	0.537													g|||	1	0.000199681	0.0	0.0014	5008	,	,		16983	0.0		0.0	False		,,,				2504	0.0						uc002pmr.2		NA																	0				lung(1)	1						c.(2305-2307)CGT>CAT		PTPRF interacting protein alpha 3							120.0	118.0	118.0					19																	49643283		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49643283G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2306G>A	19.37:g.49643283G>A	ENSP00000335614:p.Arg769His					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R637H|PPFIA3_uc002pmt.2_5'Flank	p.R769H	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	18	2638	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	769					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2306G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	g	27.9	4.875887	0.91664	.	.	ENSG00000177380	ENST00000334186	T	0.26810	1.71	4.17	4.17	0.49024	.	0.279825	0.23861	U	0.043858	T	0.55561	0.1928	M	0.85777	2.775	0.80722	D	1	P;D	0.89917	0.831;1.0	P;D	0.91635	0.498;0.999	T	0.65240	-0.6216	10	0.87932	D	0	-1.0548	15.6306	0.76906	0.0:0.0:1.0:0.0	.	769;769	O75145-2;O75145	.;LIPA3_HUMAN	H	769	ENSP00000335614:R769H	ENSP00000335614:R769H	R	+	2	0	PPFIA3	54335095	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	9.728000	0.98792	2.041000	0.60428	0.450000	0.29827	CGT		0.537	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		19	76	0	0	0	0.014323	0	19	76				
KLK3	354	broad.mit.edu	37	19	51361545	51361545	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:51361545G>T	ENST00000326003.2	+	3	508	c.467G>T	c.(466-468)gGc>gTc	p.G156V	KLK3_ENST00000597483.1_Missense_Mutation_p.G113V|KLK3_ENST00000360617.3_Missense_Mutation_p.G156V|KLK3_ENST00000593997.1_Missense_Mutation_p.G156V|KLK3_ENST00000595952.1_Missense_Mutation_p.G113V	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	156	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TACGCCTCAGGCTGGGGCAGC	0.657																																					Colon(185;1767 2023 13025 30120 37630)	Colon(185;1767 2023 13025 30120 37630)	uc002pts.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(466-468)GGC>GTC		prostate specific antigen isoform 3							51.0	49.0	50.0					19																	51361545		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361545G>T	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.467G>T	19.37:g.51361545G>T	ENSP00000314151:p.Gly156Val					KLK3_uc010ycj.1_Intron|KLK3_uc002ptr.1_Missense_Mutation_p.G113V|KLK3_uc010eof.1_RNA	p.G156V	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	508	+		all_neural(266;0.057)	156			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.467G>T	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.301745	0.60195	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617	T;T	0.55413	0.52;0.52	2.31	2.31	0.28768	.	0.191591	0.25801	N	0.028202	T	0.81254	0.4784	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86213	0.1626	10	0.87932	D	0	.	10.698	0.45909	0.0:0.0:1.0:0.0	.	156;113	G3XAE3;G3V0H4	.;.	V	156;113;156	ENSP00000314151:G156V;ENSP00000353829:G156V	ENSP00000314151:G156V	G	+	2	0	KLK3	56053357	1.000000	0.71417	0.650000	0.29550	0.153000	0.21895	6.051000	0.71072	1.583000	0.49898	0.505000	0.49811	GGC		0.657	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		8	30	1	0	2.17888e-05	0.006214	2.54407e-05	8	30				
ZNF534	147658	broad.mit.edu	37	19	52941259	52941259	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:52941259G>A	ENST00000332323.6	+	4	646	c.585G>A	c.(583-585)agG>agA	p.R195R	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.R182R	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TACACATTAGGGAAAAGCCTT	0.328																																							uc002pzk.2		NA																	0					0						c.(583-585)AGG>AGA		zinc finger protein 534 isoform 2							113.0	100.0	104.0					19																	52941259		1568	3582	5150	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941259G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.585G>A	19.37:g.52941259G>A						ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.R182R	p.R195R	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	646	+			195					Q76KX9	Silent	SNP	ENST00000332323.6	37	c.585G>A	CCDS46165.1																																																																																				0.328	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		5	61	0	0	0	0.001984	0	5	61				
ZNF578	147660	broad.mit.edu	37	19	53013861	53013861	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:53013861C>A	ENST00000421239.2	+	6	471	c.227C>A	c.(226-228)tCa>tAa	p.S76*	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GAGGTCTTGTCAACAGGGCAA	0.383																																							uc002pzp.3		NA																	0					0						c.(226-228)TCA>TAA		zinc finger protein 578							139.0	141.0	140.0					19																	53013861		2203	4300	6503	SO:0001587	stop_gained	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53013861C>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.227C>A	19.37:g.53013861C>A	ENSP00000459216:p.Ser76*						p.S76*	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	471	+			Error:Variant_position_missing_in_Q96N58_after_alignment					B4DR51|I3L1Y6	Nonsense_Mutation	SNP	ENST00000421239.2	37	c.227C>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	14.46	2.541659	0.45280	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6627	0.12650	0.3694:0.6306:0.0:0.0	.	.	.	.	X	76	.	.	S	+	2	0	ZNF578	57705673	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.335000	0.07873	0.681000	0.31386	0.134000	0.15878	TCA		0.383	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		39	159	1	0	2.51966e-14	0.01441	3.91161e-14	39	159				
ZNF320	162967	broad.mit.edu	37	19	53384015	53384015	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:53384015T>G	ENST00000595635.1	-	8	1865	c.1364A>C	c.(1363-1365)cAc>cCc	p.H455P	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H455P	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CCTAATAAGGTGTGAAGGTGA	0.418																																							uc002qag.2		NA																	0					0						c.(1363-1365)CAC>CCC		zinc finger protein 320							87.0	75.0	79.0					19																	53384015		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384015T>G	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1364A>C	19.37:g.53384015T>G	ENSP00000473091:p.His455Pro					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.H401P|ZNF320_uc002qai.2_Missense_Mutation_p.H455P	p.H455P	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1555	-			455			C2H2-type 11.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1364A>C	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	5.699	0.313497	0.10789	.	.	ENSG00000182986	ENST00000391781	T	0.35789	1.29	1.75	-3.49	0.04724	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35566	0.0936	L	0.48642	1.525	0.09310	N	1	D	0.63880	0.993	P	0.57911	0.829	T	0.15150	-1.0447	9	0.29301	T	0.29	.	1.5676	0.02608	0.1511:0.3816:0.1518:0.3154	.	455	A2RRD8	ZN320_HUMAN	P	455	ENSP00000375660:H455P	ENSP00000375660:H455P	H	-	2	0	ZNF320	58075827	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-4.047000	0.00306	-1.243000	0.02519	0.163000	0.16589	CAC		0.418	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		11	36	0	0	0	0.010729	0	11	36				
VN1R2	317701	broad.mit.edu	37	19	53762294	53762294	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:53762294G>A	ENST00000341702.3	+	1	750	c.666G>A	c.(664-666)ctG>ctA	p.L222L		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	222					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TCCACATGCTGGTAAATGCCA	0.448																																							uc002qbi.2		NA																	0					0						c.(664-666)CTG>CTA		vomeronasal 1 receptor 2							60.0	60.0	60.0					19																	53762294		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762294G>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.666G>A	19.37:g.53762294G>A							p.L222L	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	750	+			222			Helical; Name=4; (Potential).		A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.666G>A	CCDS12862.1																																																																																				0.448	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		4	32	0	0	0	0.001168	0	4	32				
VN1R4	317703	broad.mit.edu	37	19	53770608	53770608	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:53770608A>G	ENST00000311170.4	-	1	364	c.311T>C	c.(310-312)tTc>tCc	p.F104S	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	104					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GATCACCTGGAAGACACTCAA	0.493										HNSCC(26;0.072)																													uc010ydu.1		NA																	0				ovary(2)	2						c.(310-312)TTC>TCC		vomeronasal 1 receptor 4							27.0	23.0	24.0					19																	53770608		2203	4296	6499	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770608A>G	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.311T>C	19.37:g.53770608A>G	ENSP00000310856:p.Phe104Ser	HNSCC(26;0.072)					p.F104S	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	311	-			104			Helical; Name=3; (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.311T>C	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.593759	0.28445	.	.	ENSG00000228567	ENST00000311170	T	0.37752	1.18	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.720175	0.11451	N	0.562790	T	0.56140	0.1965	M	0.85859	2.78	0.23144	N	0.998224	D	0.67145	0.996	D	0.67103	0.949	T	0.39941	-0.9589	10	0.44086	T	0.13	.	4.6977	0.12811	0.7181:0.0:0.0:0.2819	.	104	Q7Z5H5	VN1R4_HUMAN	S	104	ENSP00000310856:F104S	ENSP00000310856:F104S	F	-	2	0	VN1R4	58462420	0.992000	0.36948	0.985000	0.45067	0.469000	0.32828	0.561000	0.23515	1.312000	0.45043	0.445000	0.29226	TTC		0.493	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		3	36	0	0	0	0.009096	0	3	36				
NLRP7	199713	broad.mit.edu	37	19	55451341	55451341	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:55451341G>T	ENST00000590030.1	-	3	886	c.846C>A	c.(844-846)ctC>ctA	p.L282L	NLRP7_ENST00000588756.1_Silent_p.L282L|NLRP7_ENST00000446217.1_Silent_p.L310L|NLRP7_ENST00000592784.1_Silent_p.L282L|NLRP7_ENST00000340844.2_Silent_p.L282L|NLRP7_ENST00000328092.5_Silent_p.L282L|NLRP7_ENST00000448121.2_Silent_p.L282L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	282	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AACTCCCCAGGAGGACGGGCA	0.632																																							uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(844-846)CTC>CTA		NACHT, leucine rich repeat and PYD containing 7							50.0	50.0	50.0					19																	55451341		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451341G>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.846C>A	19.37:g.55451341G>T						NLRP7_uc002qig.3_Silent_p.L282L|NLRP7_uc002qii.3_Silent_p.L282L|NLRP7_uc010esk.2_Silent_p.L282L|NLRP7_uc010esl.2_Silent_p.L310L	p.L282L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	922	-			282			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.846C>A	CCDS33109.1																																																																																				0.632	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		7	54	1	0	1.76689e-08	0.006214	2.31765e-08	7	54				
UBE2S	27338	broad.mit.edu	37	19	55918297	55918297	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:55918297T>A	ENST00000264552.9	-	2	224	c.37A>T	c.(37-39)Atc>Ttc	p.I13F	UBE2S_ENST00000592570.1_5'Flank|UBE2S_ENST00000589978.1_Missense_Mutation_p.I13F	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	13					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		ACCAGGCGGATGATGTGCGGG	0.602																																							uc002qkx.1		NA																	0					0						c.(37-39)ATC>TTC		ubiquitin-conjugating enzyme E2S							117.0	102.0	107.0					19																	55918297		2203	4300	6503	SO:0001583	missense	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55918297T>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.37A>T	19.37:g.55918297T>A	ENSP00000264552:p.Ile13Phe					uc002qky.2_5'Flank	p.I13F	NM_014501	NP_055316	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	2	405	-	Breast(117;0.155)		13					Q9BTC1	Missense_Mutation	SNP	ENST00000264552.9	37	c.37A>T	CCDS33114.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424718	0.62733	.	.	ENSG00000108106	ENST00000264552	T	0.72282	-0.64	3.98	3.98	0.46160	Ubiquitin-conjugating enzyme/RWD-like (2);	0.134155	0.48286	D	0.000184	T	0.63815	0.2543	M	0.63843	1.955	0.58432	D	0.999998	P	0.42584	0.784	B	0.35240	0.198	T	0.70575	-0.4834	10	0.87932	D	0	-20.229	11.1383	0.48388	0.0:0.0:0.0:1.0	.	13	Q16763	UBE2S_HUMAN	F	13	ENSP00000264552:I13F	ENSP00000264552:I13F	I	-	1	0	UBE2S	60610109	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.457000	0.53007	1.805000	0.52779	0.374000	0.22700	ATC		0.602	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		12	75	0	0	0	0.00245	0	12	75				
NLRP8	126205	broad.mit.edu	37	19	56467274	56467274	+	Missense_Mutation	SNP	G	G	T	rs75924528	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:56467274G>T	ENST00000291971.3	+	3	1921	c.1850G>T	c.(1849-1851)cGg>cTg	p.R617L	NLRP8_ENST00000590542.1_Missense_Mutation_p.R617L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	617					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CATGAAATCCGGGAGGAAGCC	0.448																																							uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1849-1851)CGG>CTG		NLR family, pyrin domain containing 8							88.0	82.0	84.0					19																	56467274		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467274G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1850G>T	19.37:g.56467274G>T	ENSP00000291971:p.Arg617Leu					NLRP8_uc010etg.2_Missense_Mutation_p.R617L	p.R617L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1921	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	617					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1850G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739053	0.30774	.	.	ENSG00000179709	ENST00000291971	D	0.84070	-1.8	2.03	-3.84	0.04256	.	.	.	.	.	T	0.79534	0.4462	L	0.36672	1.1	0.09310	N	1	D;P	0.54601	0.967;0.906	P;P	0.54026	0.74;0.52	T	0.72033	-0.4412	9	0.87932	D	0	.	7.4358	0.27154	0.332:0.0:0.668:0.0	.	617;617	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	617	ENSP00000291971:R617L	ENSP00000291971:R617L	R	+	2	0	NLRP8	61159086	0.002000	0.14202	0.011000	0.14972	0.016000	0.09150	0.725000	0.25970	-1.026000	0.03330	-0.507000	0.04495	CGG		0.448	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		12	66	1	0	4.36969e-10	0.001855	6.07798e-10	12	66				
ZNF71	58491	broad.mit.edu	37	19	57133482	57133482	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:57133482G>T	ENST00000328070.6	+	3	1061	c.827G>T	c.(826-828)gGg>gTg	p.G276V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCCGAGTGCGGGCGAGCCTTC	0.662																																							uc002qnm.3		NA																	0				skin(1)	1						c.(826-828)GGG>GTG		zinc finger protein 71							54.0	57.0	56.0					19																	57133482		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133482G>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.827G>T	19.37:g.57133482G>T	ENSP00000328245:p.Gly276Val						p.G276V	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1065	+			276			C2H2-type 6.		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.827G>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165304	0.78339	.	.	ENSG00000197951	ENST00000328070	T	0.58358	0.34	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78329	0.4266	M	0.93939	3.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	D	0.85003	0.0901	9	0.72032	D	0.01	.	14.6514	0.68800	0.0:0.0:1.0:0.0	.	276	Q9NQZ8	ZNF71_HUMAN	V	276	ENSP00000328245:G276V	ENSP00000328245:G276V	G	+	2	0	ZNF71	61825294	0.999000	0.42202	0.010000	0.14722	0.980000	0.70556	2.856000	0.48341	1.958000	0.56883	0.561000	0.74099	GGG		0.662	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		10	74	1	0	4.68919e-08	0.008291	6.06449e-08	10	74				
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:57955885C>G	ENST00000334181.4	+	3	1619	c.1369C>G	c.(1369-1371)Cag>Gag	p.Q457E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q457E(1)|p.Q370E(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423																																							uc002qoq.2		NA																	2	Substitution - Missense(2)		endometrium(2)		0						c.(1369-1371)CAG>GAG		zinc finger protein 749							92.0	89.0	90.0					19																	57955885		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955885C>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1369C>G	19.37:g.57955885C>G	ENSP00000333980:p.Gln457Glu					ZNF547_uc002qpm.3_Intron	p.Q457E	NM_001023561	NP_001018855	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1623	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	457			C2H2-type 10.			Missense_Mutation	SNP	ENST00000334181.4	37	c.1369C>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410685	0.25465	.	.	ENSG00000186230	ENST00000334181	T	0.07327	3.2	1.62	0.523	0.17060	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	L	0.38649	1.16	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.33904	-0.9850	9	0.52906	T	0.07	.	5.9852	0.19430	0.5886:0.4114:0.0:0.0	.	457	O43361	ZN749_HUMAN	E	457	ENSP00000333980:Q457E	ENSP00000333980:Q457E	Q	+	1	0	ZNF749	62647697	.	.	0.001000	0.08648	0.750000	0.42670	.	.	0.202000	0.20498	0.650000	0.86243	CAG		0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		3	64	0	0	0	0.009096	0	3	64				
ZSCAN4	201516	broad.mit.edu	37	19	58190216	58190216	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:58190216G>A	ENST00000318203.5	+	5	1942	c.1245G>A	c.(1243-1245)atG>atA	p.M415I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	415					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCGCCATATGAGGACTCATG	0.453																																							uc002qpu.2		NA																	0				ovary(1)	1						c.(1243-1245)ATG>ATA		zinc finger and SCAN domain containing 4							72.0	75.0	74.0					19																	58190216		2203	4299	6502	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58190216G>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1245G>A	19.37:g.58190216G>A	ENSP00000321963:p.Met415Ile						p.M415I	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1942	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	415			C2H2-type 4.		Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.1245G>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	7.642	0.681114	0.14907	.	.	ENSG00000180532	ENST00000318203	T	0.09073	3.02	4.41	0.928	0.19443	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.074650	0.07261	N	0.867441	T	0.07007	0.0178	L	0.31664	0.95	0.09310	N	0.999991	B	0.23377	0.084	B	0.18561	0.022	T	0.41179	-0.9523	10	0.38643	T	0.18	-2.6746	7.5476	0.27777	0.0:0.3282:0.48:0.1918	.	415	Q8NAM6	ZSCA4_HUMAN	I	415	ENSP00000321963:M415I	ENSP00000321963:M415I	M	+	3	0	ZSCAN4	62882028	0.122000	0.22280	0.049000	0.19019	0.120000	0.20174	2.070000	0.41491	0.305000	0.22832	0.650000	0.86243	ATG		0.453	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		9	73	0	0	0	0.006214	0	9	73				
ZNF551	90233	broad.mit.edu	37	19	58198259	58198259	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:58198259C>T	ENST00000282296.5	+	3	801	c.616C>T	c.(616-618)Cac>Tac	p.H206Y	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H190Y			Q7Z340	ZN551_HUMAN	zinc finger protein 551	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGGAGCCACACAGTAGCAG	0.483																																							uc002qpw.3		NA																	0				ovary(1)	1						c.(568-570)CAC>TAC		zinc finger protein 551							61.0	63.0	62.0					19																	58198259		2201	4299	6500	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198259C>T	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.616C>T	19.37:g.58198259C>T	ENSP00000282296:p.His206Tyr					ZNF551_uc002qpv.3_Missense_Mutation_p.H133Y|ZNF776_uc002qpx.2_Intron	p.H190Y	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	791	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	206					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.568C>T	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449292	0.01080	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	1.44	0.316	0.15857	.	.	.	.	.	T	0.11922	0.0290	N	0.03268	-0.37	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.34030	-0.9845	8	0.02654	T	1	.	5.4944	0.16795	0.0:0.6449:0.3551:0.0	.	206	Q7Z340	ZN551_HUMAN	Y	206;190;100	.	ENSP00000282296:H190Y	H	+	1	0	ZNF551	62890071	0.001000	0.12720	0.002000	0.10522	0.049000	0.14656	-0.303000	0.08210	0.165000	0.19558	0.484000	0.47621	CAC		0.483	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		30	94	0	0	0	0.00632	0	30	94				
ZNF154	7710	broad.mit.edu	37	19	58213959	58213959	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:58213959T>A	ENST00000512439.2	-	3	554	c.358A>T	c.(358-360)Agc>Tgc	p.S120C	ZNF154_ENST00000426889.1_Missense_Mutation_p.S120C|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCACCGTCGCTTTTGCTATTT	0.502																																							uc010euf.2		NA																	0					0						c.(358-360)AGC>TGC		zinc finger protein 154							151.0	147.0	148.0					19																	58213959		1954	4152	6106	SO:0001583	missense	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58213959T>A	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.358A>T	19.37:g.58213959T>A	ENSP00000421258:p.Ser120Cys					ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA	p.S120C	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	598	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	120					A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	c.358A>T	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.497729	0.26861	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.08282	3.11;3.11	3.17	-4.81	0.03180	.	.	.	.	.	T	0.05868	0.0153	L	0.58925	1.835	0.09310	N	1	P	0.34412	0.453	B	0.18561	0.022	T	0.15578	-1.0432	9	0.72032	D	0.01	.	2.1748	0.03859	0.1368:0.3815:0.1394:0.3423	.	120	Q13106	ZN154_HUMAN	C	120	ENSP00000421258:S120C;ENSP00000442370:S120C	ENSP00000442370:S120C	S	-	1	0	ZNF154	62905771	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.529000	0.06186	-1.348000	0.02205	0.454000	0.30748	AGC		0.502	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			30	106	0	0	0	0.00632	0	30	106				
C19orf18	147685	broad.mit.edu	37	19	58485792	58485792	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:58485792C>A	ENST00000314391.3	-	1	110	c.9G>T	c.(7-9)aaG>aaT	p.K3N		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	3						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CACTCTGAACCTTGTCCATCA	0.383																																							uc002qqv.2		NA																	0				ovary(1)	1						c.(7-9)AAG>AAT		hypothetical protein LOC147685 precursor							123.0	124.0	123.0					19																	58485792		2203	4300	6503	SO:0001583	missense	147685					integral to membrane		g.chr19:58485792C>A	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.9G>T	19.37:g.58485792C>A	ENSP00000321519:p.Lys3Asn						p.K3N	NM_152474	NP_689687	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	1	113	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	3						Missense_Mutation	SNP	ENST00000314391.3	37	c.9G>T	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448896	0.43531	.	.	ENSG00000177025	ENST00000314391	T	0.51817	0.69	4.24	0.983	0.19767	.	0.695406	0.12514	N	0.462241	T	0.47655	0.1457	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.59487	0.858	T	0.32241	-0.9914	10	0.87932	D	0	0.0583	6.8788	0.24160	0.0:0.7294:0.0:0.2706	.	3	Q8NEA5	CS018_HUMAN	N	3	ENSP00000321519:K3N	ENSP00000321519:K3N	K	-	3	2	C19orf18	63177604	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	0.138000	0.16016	0.327000	0.23409	0.655000	0.94253	AAG		0.383	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		8	51	1	0	0.00621372	0.006214	0.0066725	8	51				
NT5C1B	93034	broad.mit.edu	37	2	18766133	18766133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:18766133G>A	ENST00000359846.2	-	5	627	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B-RDH14_ENST00000532967.1_Nonsense_Mutation_p.Q184*|NT5C1B_ENST00000600945.1_Nonsense_Mutation_p.Q184*|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Nonsense_Mutation_p.Q124*	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	184	Pro-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGGGGCAGCTGGGGCGACGCG	0.721																																							uc002rcz.2		NA																	0				skin(2)|ovary(1)	3						c.(550-552)CAG>TAG		5' nucleotidase, cytosolic IB isoform 1							12.0	17.0	15.0					2																	18766133		2146	4170	6316	SO:0001587	stop_gained	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18766133G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.550C>T	2.37:g.18766133G>A	ENSP00000352904:p.Gln184*					NT5C1B_uc002rcy.2_Nonsense_Mutation_p.Q184*|NT5C1B_uc010exr.2_Nonsense_Mutation_p.Q126*|NT5C1B_uc010yju.1_Nonsense_Mutation_p.Q124*|NT5C1B_uc002rda.2_Nonsense_Mutation_p.Q124*|NT5C1B_uc010yjv.1_Nonsense_Mutation_p.Q201*|NT5C1B_uc010yjw.1_Nonsense_Mutation_p.Q167*|NT5C1B_uc010exs.2_Nonsense_Mutation_p.Q186*|NT5C1B_uc002rdb.1_5'UTR	p.Q184*	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			5	654	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	184			Pro-rich.		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Nonsense_Mutation	SNP	ENST00000359846.2	37	c.550C>T	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487213	0.44249	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	.	.	.	4.18	-1.89	0.07689	.	3.194860	0.01099	N	0.005332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.4525	6.1464	0.20289	0.1317:0.0:0.4783:0.39	.	.	.	.	X	184;126;124;184;201	.	ENSP00000305979:Q124X	Q	-	1	0	NT5C1B-RDH14;NT5C1B	18629614	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.627000	0.00874	-0.087000	0.12528	0.563000	0.77884	CAG		0.721	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			6	17	0	0	0	0.004482	0	6	17				
APOB	338	broad.mit.edu	37	2	21233305	21233305	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:21233305G>T	ENST00000233242.1	-	26	6562	c.6435C>A	c.(6433-6435)ctC>ctA	p.L2145L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2145	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTTTTTGTGAGAGCAGTCA	0.358																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6433-6435)CTC>CTA		apolipoprotein B precursor	Atorvastatin(DB01076)						58.0	58.0	58.0					2																	21233305		2203	4299	6502	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233305G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6435C>A	2.37:g.21233305G>T							p.L2145L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6563	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2145			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.6435C>A	CCDS1703.1																																																																																				0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			6	12	1	0	8.12818e-05	0.001984	9.20528e-05	6	12				
PFN4	375189	broad.mit.edu	37	2	24342519	24342519	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:24342519G>C	ENST00000313213.4	-	4	660	c.289C>G	c.(289-291)Ctg>Gtg	p.L97V	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	97					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGATACAGATGGGTCTTC	0.468																																							uc002rfa.1		NA																	0				ovary(1)	1						c.(289-291)CTG>GTG		profilin family, member 4							129.0	118.0	122.0					2																	24342519		2203	4300	6503	SO:0001583	missense	375189				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding	g.chr2:24342519G>C	BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.289C>G	2.37:g.24342519G>C	ENSP00000322170:p.Leu97Val					LOC375190_uc002rew.2_Intron	p.L97V	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN			4	465	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		97					Q53TL9	Missense_Mutation	SNP	ENST00000313213.4	37	c.289C>G	CCDS1709.1	.	.	.	.	.	.	.	.	.	.	G	3.676	-0.066478	0.07273	.	.	ENSG00000176732	ENST00000313213	D	0.85629	-2.01	5.42	-3.38	0.04883	.	1.085110	0.07152	N	0.849257	T	0.75939	0.3918	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.58411	-0.7641	10	0.35671	T	0.21	1.3846	5.559	0.17133	0.0756:0.1134:0.2079:0.6031	.	97	Q8NHR9	PROF4_HUMAN	V	97	ENSP00000322170:L97V	ENSP00000322170:L97V	L	-	1	2	PFN4	24196023	0.000000	0.05858	0.003000	0.11579	0.332000	0.28634	-0.068000	0.11561	-0.483000	0.06772	-0.188000	0.12872	CTG		0.468	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346		3	59	0	0	0	0.009096	0	3	59				
NCOA1	8648	broad.mit.edu	37	2	24981020	24981020	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:24981020G>C	ENST00000406961.1	+	21	4712	c.4060G>C	c.(4060-4062)Gag>Cag	p.E1354Q	NCOA1_ENST00000405141.1_Missense_Mutation_p.E1354Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.E1354Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.E1354Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.E1203Q|NCOA1_ENST00000395856.3_Missense_Mutation_p.E1354Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.E1354Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1354					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGTGCCCTGAGCAGGTAAG	0.473			T	PAX3	alveolar rhadomyosarcoma																																		uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(4060-4062)GAG>CAG		nuclear receptor coactivator 1 isoform 1							103.0	92.0	96.0					2																	24981020		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24981020G>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4060G>C	2.37:g.24981020G>C	ENSP00000385216:p.Glu1354Gln					NCOA1_uc010eye.2_Missense_Mutation_p.E1354Q|NCOA1_uc002rfi.2_Missense_Mutation_p.E1203Q|NCOA1_uc002rfj.2_Missense_Mutation_p.E1354Q|NCOA1_uc002rfl.2_Missense_Mutation_p.E1354Q|NCOA1_uc010eyf.2_Missense_Mutation_p.E247Q	p.E1354Q	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			19	4318	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1354					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.4060G>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301951	0.81136	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.03124	4.29;4.1;4.04;4.1;4.29;4.1;4.29	4.94	4.94	0.65067	.	0.353674	0.31438	N	0.007646	T	0.09113	0.0225	N	0.13235	0.315	0.47374	D	0.999402	D;P;D;D;P	0.67145	0.993;0.59;0.99;0.996;0.455	D;B;D;D;B	0.75484	0.968;0.293;0.966;0.986;0.153	T	0.43180	-0.9407	10	0.62326	D	0.03	.	17.9528	0.89058	0.0:0.0:1.0:0.0	.	1354;1354;1354;1354;1203	A8K1V4;Q15788-3;Q15788;Q15788-2;B5MCN7	.;.;NCOA1_HUMAN;.;.	Q	1354;1354;1203;1354;1354;1354;1354	ENSP00000385216:E1354Q;ENSP00000385097:E1354Q;ENSP00000385195:E1203Q;ENSP00000444039:E1354Q;ENSP00000320940:E1354Q;ENSP00000288599:E1354Q;ENSP00000379197:E1354Q	ENSP00000288599:E1354Q	E	+	1	0	NCOA1	24834524	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.684000	0.74538	2.563000	0.86464	0.585000	0.79938	GAG		0.473	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		4	110	0	0	0	0.000602	0	4	110				
OTOF	9381	broad.mit.edu	37	2	26706361	26706361	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:26706361G>T	ENST00000272371.2	-	13	1487	c.1361C>A	c.(1360-1362)cCc>cAc	p.P454H	OTOF_ENST00000403946.3_Missense_Mutation_p.P454H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	454	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCACGTAGGGGTCCACGAG	0.542																																					GBM(102;732 1451 20652 24062 31372)	GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1360-1362)CCC>CAC		otoferlin isoform a							90.0	79.0	83.0					2																	26706361		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26706361G>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1361C>A	2.37:g.26706361G>T	ENSP00000272371:p.Pro454His						p.P454H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1488	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		454			Cytoplasmic (Potential).|C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1361C>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750511	0.89753	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.78003	-1.14;-1.14	5.04	5.04	0.67666	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92355	0.7574	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94994	0.8137	10	0.87932	D	0	-24.7693	17.9794	0.89136	0.0:0.0:1.0:0.0	.	454	Q9HC10	OTOF_HUMAN	H	454	ENSP00000272371:P454H;ENSP00000385255:P454H	ENSP00000272371:P454H	P	-	2	0	OTOF	26559865	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.798000	0.99111	2.340000	0.79590	0.643000	0.83706	CCC		0.542	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			15	55	1	0	1.15088e-07	0.004007	1.46331e-07	15	55				
PREB	10113	broad.mit.edu	37	2	27354694	27354694	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:27354694G>A	ENST00000260643.2	-	8	1258	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_Silent_p.L277L	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	335					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACGTAGTAGAGGCACTGTG	0.562																																							uc002rix.1		NA																	0				ovary(1)	1						c.(1003-1005)CTC>CTT		prolactin regulatory element binding protein							138.0	131.0	133.0					2																	27354694		2203	4300	6503	SO:0001819	synonymous_variant	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27354694G>A		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.1005C>T	2.37:g.27354694G>A						PREB_uc002riy.1_Silent_p.L263L|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Silent_p.L277L	p.L335L	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN			8	1258	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		335			Cytoplasmic (Potential).|WD 3.		Q53SZ8|Q9UH94	Silent	SNP	ENST00000260643.2	37	c.1005C>T	CCDS1738.1																																																																																				0.562	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		6	149	0	0	0	0.001984	0	6	149				
CCDC121	79635	broad.mit.edu	37	2	27850292	27850292	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:27850292C>G	ENST00000324364.3	-	2	555	c.375G>C	c.(373-375)caG>caC	p.Q125H	GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000515877.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000264718.3_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.Q287H|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000503738.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	125										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					TTGTCTCCTCCTGTAATGTCT	0.438																																							uc002rle.2		NA																	0					0						c.(373-375)CAG>CAC		coiled-coil domain containing 121 isoform 3							141.0	148.0	145.0					2																	27850292		2203	4300	6503	SO:0001583	missense	79635							g.chr2:27850292C>G	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.375G>C	2.37:g.27850292C>G	ENSP00000339087:p.Gln125His					ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.Q289H|CCDC121_uc002rld.2_Missense_Mutation_p.Q287H|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	p.Q125H	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN			2	556	-	Acute lymphoblastic leukemia(172;0.155)		125			Potential.		B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.375G>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507633	0.44558	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.31247	1.5;1.5	5.56	2.35	0.29111	.	0.758522	0.11979	N	0.510966	T	0.44393	0.1291	L	0.54323	1.7	0.09310	N	1	D	0.69078	0.997	D	0.63192	0.912	T	0.17684	-1.0361	10	0.72032	D	0.01	-22.8796	7.8055	0.29200	0.0:0.6972:0.0:0.3028	.	125	Q6ZUS5	CC121_HUMAN	H	125;287	ENSP00000339087:Q125H;ENSP00000412150:Q287H	ENSP00000339087:Q125H	Q	-	3	2	CCDC121	27703796	0.017000	0.18338	0.011000	0.14972	0.735000	0.41995	0.645000	0.24782	0.719000	0.32188	0.591000	0.81541	CAG		0.438	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		7	138	0	0	0	0.00308	0	7	138				
LTBP1	4052	broad.mit.edu	37	2	33413810	33413810	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:33413810C>G	ENST00000404816.2	+	7	1946	c.1593C>G	c.(1591-1593)acC>acG	p.T531T	LTBP1_ENST00000407925.1_Silent_p.T205T|LTBP1_ENST00000418533.2_Silent_p.T205T|LTBP1_ENST00000404525.1_Silent_p.T205T|LTBP1_ENST00000402934.1_Silent_p.T205T|LTBP1_ENST00000354476.3_Silent_p.T531T|LTBP1_ENST00000390003.4_Silent_p.T205T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	531					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCCAGAAGACCCAGACCATAC	0.527																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1591-1593)ACC>ACG		latent transforming growth factor beta binding							147.0	139.0	142.0					2																	33413810		2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33413810C>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1593C>G	2.37:g.33413810C>G						LTBP1_uc002rot.2_Silent_p.T205T|LTBP1_uc002rou.2_Silent_p.T205T|LTBP1_uc002rov.2_Silent_p.T205T|LTBP1_uc010ymz.1_Silent_p.T205T|LTBP1_uc010yna.1_Silent_p.T205T	p.T531T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			7	1593	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	531					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.1593C>G	CCDS33177.2																																																																																				0.527	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		30	85	0	0	0	0.010818	0	30	85				
LTBP1	4052	broad.mit.edu	37	2	33500974	33500974	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:33500974G>T	ENST00000404816.2	+	18	3329	c.2976G>T	c.(2974-2976)caG>caT	p.Q992H	LTBP1_ENST00000407925.1_Missense_Mutation_p.Q666H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q666H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q613H|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q613H|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q993H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q667H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	992	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCATGACTCAGAGAGGCCGTT	0.577																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2977-2979)CAG>CAT		latent transforming growth factor beta binding							116.0	104.0	108.0					2																	33500974		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33500974G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2976G>T	2.37:g.33500974G>T	ENSP00000386043:p.Gln992His					LTBP1_uc002rot.2_Missense_Mutation_p.Q667H|LTBP1_uc002rou.2_Missense_Mutation_p.Q666H|LTBP1_uc002rov.2_Missense_Mutation_p.Q613H|LTBP1_uc010ymz.1_Missense_Mutation_p.Q666H|LTBP1_uc010yna.1_Missense_Mutation_p.Q613H	p.Q993H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			18	2979	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	992			EGF-like 6; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2979G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365366	0.24684	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.92149	-2.27;-2.27;-2.27;-2.27;-2.98;-2.27;-2.27	4.73	-4.3	0.03710	EGF-like calcium-binding (2);	.	.	.	.	D	0.88100	0.6346	N	0.21508	0.67	0.09310	N	0.999997	P;B;B;B;B;P	0.40107	0.703;0.24;0.0;0.343;0.234;0.654	P;B;B;B;B;P	0.51229	0.663;0.109;0.006;0.404;0.218;0.532	T	0.81202	-0.1040	9	0.66056	D	0.02	.	6.6678	0.23052	0.351:0.3203:0.3286:0.0	.	992;666;613;666;667;993	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	H	992;993;667;666;613;613;666	ENSP00000386043:Q992H;ENSP00000346467:Q993H;ENSP00000374653:Q667H;ENSP00000393057:Q666H;ENSP00000384373:Q613H;ENSP00000385359:Q613H;ENSP00000384091:Q666H	ENSP00000346467:Q993H	Q	+	3	2	LTBP1	33354478	0.052000	0.20516	0.000000	0.03702	0.504000	0.33889	-0.167000	0.09940	-0.855000	0.04125	0.655000	0.94253	CAG		0.577	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		13	85	1	0	1.05317e-09	0.00245	1.44549e-09	13	85				
EML4	27436	broad.mit.edu	37	2	42556062	42556062	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:42556062A>G	ENST00000318522.5	+	22	2640	c.2378A>G	c.(2377-2379)aAt>aGt	p.N793S	EML4_ENST00000453191.2_Missense_Mutation_p.N57S|EML4_ENST00000401738.3_Missense_Mutation_p.N804S|EML4_ENST00000402711.2_Missense_Mutation_p.N735S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	793					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACAGATATCAATGCACTGGTG	0.418			T	ALK	NSCLC																																		uc002rsi.2		NA		Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	0				lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(2377-2379)AAT>AGT		echinoderm microtubule associated protein like 4							143.0	131.0	135.0					2																	42556062		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42556062A>G	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2378A>G	2.37:g.42556062A>G	ENSP00000320663:p.Asn793Ser					EML4_uc010fap.2_Missense_Mutation_p.N735S|EML4_uc002rsj.2_Missense_Mutation_p.N482S|EML4_uc010faq.2_Missense_Mutation_p.N138S|EML4_uc010ynv.1_Missense_Mutation_p.N57S	p.N793S	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			22	2640	+			793					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2378A>G	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	32	5.169209	0.94768	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.70282	2.35;1.63;2.35;-0.47	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	M	0.80422	2.495	0.80722	D	1	D;P;D;D	0.89917	0.998;0.765;1.0;0.998	D;B;D;D	0.83275	0.993;0.418;0.996;0.993	D	0.86288	0.1672	10	0.59425	D	0.04	-26.9465	16.8222	0.85835	1.0:0.0:0.0:0.0	.	735;735;804;793	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	S	793;735;804;57	ENSP00000320663:N793S;ENSP00000385059:N735S;ENSP00000384939:N804S;ENSP00000400590:N57S	ENSP00000320663:N793S	N	+	2	0	EML4	42409566	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.220000	0.95180	2.371000	0.80710	0.533000	0.62120	AAT		0.418	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		13	61	0	0	0	0.006122	0	13	61				
BCL11A	53335	broad.mit.edu	37	2	60687738	60687738	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:60687738T>C	ENST00000335712.6	-	4	2536	c.2309A>G	c.(2308-2310)tAt>tGt	p.Y770C	BCL11A_ENST00000538214.1_Missense_Mutation_p.Y736C|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.Y736C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	770					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCGCATTTATAAGGCCTTTC	0.522			T	IGH@	B-CLL																																		uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2308-2310)TAT>TGT		B-cell CLL/lymphoma 11A isoform 1							131.0	133.0	132.0					2																	60687738		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687738T>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2309A>G	2.37:g.60687738T>C	ENSP00000338774:p.Tyr770Cys					BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.Y736C|BCL11A_uc002sad.1_Missense_Mutation_p.Y618C|BCL11A_uc002saf.1_Missense_Mutation_p.Y736C	p.Y770C	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2537	-			770			C2H2-type 5.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.2309A>G	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.755932	0.31137	.	.	ENSG00000119866	ENST00000538214;ENST00000335712;ENST00000358510	T;T;T	0.25414	1.8;1.8;1.8	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.074199	0.56097	D	0.000032	T	0.57344	0.2047	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.996;1.0	T	0.63821	-0.6550	10	0.87932	D	0	-1.3393	16.5655	0.84588	0.0:0.0:0.0:1.0	.	736;736;770	F5H2Y4;Q9H165-6;Q9H165	.;.;BC11A_HUMAN	C	736;770;736	ENSP00000438303:Y736C;ENSP00000338774:Y770C;ENSP00000351307:Y736C	ENSP00000338774:Y770C	Y	-	2	0	BCL11A	60541242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.302000	0.77476	0.533000	0.62120	TAT		0.522	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		14	68	0	0	0	0.003163	0	14	68				
XPO1	7514	broad.mit.edu	37	2	61712950	61712950	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:61712950G>C	ENST00000401558.2	-	20	3188	c.2461C>G	c.(2461-2463)Caa>Gaa	p.Q821E	RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.Q821E|RP11-355B11.2_ENST00000603028.1_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.Q821E	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	821					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.Q821E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCAAATATTTGAGGTATTTCA	0.358			Mis		CLL																																		uc002sbj.2		NA	-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					1	Substitution - Missense(1)		endometrium(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(2461-2463)CAA>GAA		exportin 1							102.0	91.0	94.0					2																	61712950		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61712950G>C	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2461C>G	2.37:g.61712950G>C	ENSP00000384863:p.Gln821Glu					XPO1_uc010fcl.2_Missense_Mutation_p.Q817E|XPO1_uc010ypn.1_Missense_Mutation_p.Q817E|XPO1_uc002sbk.2_Missense_Mutation_p.Q382E|XPO1_uc002sbg.2_Missense_Mutation_p.Q18E|XPO1_uc002sbh.2_Missense_Mutation_p.Q468E	p.Q821E	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		20	3189	-			821					A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.2461C>G	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683628	0.14907	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66099	-0.19;-0.19;-0.19	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.051410	0.85682	D	0.000000	T	0.52256	0.1723	L	0.38531	1.155	0.53688	D	0.999975	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.52653	-0.8547	10	0.02654	T	1	-14.1104	20.8598	0.99761	0.0:0.0:1.0:0.0	.	468;821	B3KWD0;O14980	.;XPO1_HUMAN	E	821	ENSP00000384863:Q821E;ENSP00000385942:Q821E;ENSP00000385559:Q821E	ENSP00000384863:Q821E	Q	-	1	0	XPO1	61566454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.117000	0.64667	2.937000	0.99478	0.650000	0.86243	CAA		0.358	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		9	81	0	0	0	0.006214	0	9	81				
PROKR1	10887	broad.mit.edu	37	2	68873314	68873314	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:68873314G>A	ENST00000303786.3	+	2	781	c.361G>A	c.(361-363)Gac>Aac	p.D121N	PROKR1_ENST00000394342.2_Missense_Mutation_p.D121N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	121					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTTGAGATGGACTACTATGT	0.577																																							uc010yqj.1		NA																	0				ovary(1)	1						c.(361-363)GAC>AAC		G protein-coupled receptor 73							167.0	148.0	154.0					2																	68873314		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873314G>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.361G>A	2.37:g.68873314G>A	ENSP00000303775:p.Asp121Asn					PROKR1_uc002ses.2_RNA	p.D121N	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN			1	361	+			121			Extracellular (Potential).		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.361G>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415207	0.96092	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.71579	-0.58;-0.58	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	L	0.39633	1.23	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.74674	-0.3586	10	0.34782	T	0.22	.	16.6708	0.85266	0.0:0.0:1.0:0.0	.	121	Q8TCW9	PKR1_HUMAN	N	121	ENSP00000303775:D121N;ENSP00000377874:D121N	ENSP00000303775:D121N	D	+	1	0	PROKR1	68726818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.633000	0.83260	2.890000	0.99128	0.650000	0.86243	GAC		0.577	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			32	180	0	0	0	0.00623	0	32	180				
FAM136A	84908	broad.mit.edu	37	2	70524579	70524579	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:70524579T>A	ENST00000037869.3	-	3	337	c.259A>T	c.(259-261)Aac>Tac	p.N87Y	FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Missense_Mutation_p.N194Y	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	87						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCTTTGTCGTTGCAATGCATG	0.507																																							uc002sgq.3		NA																	0					0						c.(259-261)AAC>TAC		hypothetical protein LOC84908							96.0	90.0	92.0					2																	70524579		2203	4300	6503	SO:0001583	missense	84908					mitochondrion	protein binding	g.chr2:70524579T>A	BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.259A>T	2.37:g.70524579T>A	ENSP00000037869:p.Asn87Tyr					FAM136A_uc010fdp.2_RNA	p.N87Y	NM_032822	NP_116211	Q96C01	F136A_HUMAN			3	336	-			87					Q96SS3	Missense_Mutation	SNP	ENST00000037869.3	37	c.259A>T	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296247	0.81025	.	.	ENSG00000035141	ENST00000037869;ENST00000430566;ENST00000438759	.	.	.	5.01	5.01	0.66863	.	0.098629	0.64402	D	0.000004	T	0.70622	0.3245	M	0.75884	2.315	0.49299	D	0.999771	D	0.64830	0.994	D	0.67900	0.954	T	0.69427	-0.5148	9	0.29301	T	0.29	.	9.8849	0.41255	0.1528:0.0:0.0:0.8472	.	87	Q96C01	F136A_HUMAN	Y	87;194;157	.	ENSP00000037869:N87Y	N	-	1	0	FAM136A	70378083	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.430000	0.66501	1.999000	0.58509	0.459000	0.35465	AAC		0.507	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822		20	80	0	0	0	0.003954	0	20	80				
DYSF	8291	broad.mit.edu	37	2	71780294	71780294	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:71780294C>G	ENST00000258104.3	+	20	2183	c.1906C>G	c.(1906-1908)Cag>Gag	p.Q636E	DYSF_ENST00000394120.2_Missense_Mutation_p.Q637E|DYSF_ENST00000409651.1_Missense_Mutation_p.Q668E|DYSF_ENST00000409744.1_Missense_Mutation_p.Q623E|DYSF_ENST00000429174.2_Missense_Mutation_p.Q636E|DYSF_ENST00000413539.2_Missense_Mutation_p.Q667E|DYSF_ENST00000409762.1_Missense_Mutation_p.Q653E|DYSF_ENST00000410020.3_Missense_Mutation_p.Q654E|DYSF_ENST00000410041.1_Missense_Mutation_p.Q654E|DYSF_ENST00000409582.3_Missense_Mutation_p.Q653E|DYSF_ENST00000409366.1_Missense_Mutation_p.Q637E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	636					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCCACCACTCAGTACAGCCG	0.592																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1906-1908)CAG>GAG		dysferlin isoform 8							104.0	89.0	94.0					2																	71780294		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71780294C>G	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1906C>G	2.37:g.71780294C>G	ENSP00000258104:p.Gln636Glu					DYSF_uc010feg.2_Missense_Mutation_p.Q667E|DYSF_uc010feh.2_Missense_Mutation_p.Q622E|DYSF_uc002sig.3_Missense_Mutation_p.Q622E|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.Q636E|DYSF_uc010fef.2_Missense_Mutation_p.Q653E|DYSF_uc010fei.2_Missense_Mutation_p.Q653E|DYSF_uc010fek.2_Missense_Mutation_p.Q654E|DYSF_uc010fej.2_Missense_Mutation_p.Q623E|DYSF_uc010fel.2_Missense_Mutation_p.Q623E|DYSF_uc010feo.2_Missense_Mutation_p.Q668E|DYSF_uc010fem.2_Missense_Mutation_p.Q637E|DYSF_uc010fen.2_Missense_Mutation_p.Q654E|DYSF_uc002sif.2_Missense_Mutation_p.Q637E	p.Q636E	NM_003494	NP_003485	O75923	DYSF_HUMAN			20	2282	+			636			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1906C>G	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409545	0.83340	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82711	-1.62;-1.63;-1.63;-1.63;-1.63;-1.62;-1.63;-1.64;-1.63;-1.63;-1.63	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88872	0.6555	M	0.69248	2.105	0.58432	D	0.99999	P;P;P;P;D;P;D;D;P;P;P;P;P;P	0.53885	0.819;0.819;0.819;0.819;0.963;0.458;0.963;0.963;0.819;0.498;0.855;0.708;0.819;0.724	P;P;P;P;D;B;D;D;P;B;P;P;P;B	0.63113	0.615;0.615;0.615;0.615;0.91;0.359;0.91;0.911;0.615;0.23;0.615;0.615;0.615;0.41	D	0.86989	0.2109	10	0.30854	T	0.27	-25.8843	16.4751	0.84130	0.0:1.0:0.0:0.0	.	668;654;637;623;654;623;653;622;667;653;636;622;637;636	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	E	667;653;653;636;636;668;637;623;637;654;654	ENSP00000407046:Q667E;ENSP00000387137:Q653E;ENSP00000386547:Q653E;ENSP00000398305:Q636E;ENSP00000258104:Q636E;ENSP00000386683:Q668E;ENSP00000377678:Q637E;ENSP00000386285:Q623E;ENSP00000386512:Q637E;ENSP00000386881:Q654E;ENSP00000386617:Q654E	ENSP00000258104:Q636E	Q	+	1	0	DYSF	71633802	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.794000	0.85869	2.488000	0.83962	0.655000	0.94253	CAG		0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		6	132	0	0	0	0.00308	0	6	132				
SMYD5	10322	broad.mit.edu	37	2	73441427	73441427	+	Missense_Mutation	SNP	C	C	G	rs199583148	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:73441427C>G	ENST00000389501.4	+	1	78	c.33C>G	c.(31-33)ttC>ttG	p.F11L		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	11							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGTTCTCCTTCTGCGTGGGCG	0.697																																							uc002siw.2		NA																	0					0						c.(31-33)TTC>TTG		SMYD family member 5							100.0	119.0	113.0					2																	73441427		1999	4160	6159	SO:0001583	missense	10322						metal ion binding	g.chr2:73441427C>G	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.33C>G	2.37:g.73441427C>G	ENSP00000374152:p.Phe11Leu					SMYD5_uc010yre.1_5'UTR	p.F11L	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			1	62	+			11					D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.33C>G	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614839	0.46631	.	.	ENSG00000135632	ENST00000389501	T	0.42513	0.97	5.46	3.55	0.40652	.	0.488221	0.22934	N	0.053875	T	0.24314	0.0589	N	0.19112	0.55	0.35371	D	0.789032	B	0.06786	0.001	B	0.06405	0.002	T	0.16512	-1.0400	10	0.45353	T	0.12	-15.1621	5.1617	0.15064	0.0:0.6487:0.1713:0.18	.	11	Q6GMV2	SMYD5_HUMAN	L	11	ENSP00000374152:F11L	ENSP00000258100:F11L	F	+	3	2	SMYD5	73294935	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.215000	0.32431	1.307000	0.44944	-0.136000	0.14681	TTC		0.697	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		7	193	0	0	0	0.00245	0	7	193				
DQX1	165545	broad.mit.edu	37	2	74745595	74745595	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:74745595C>T	ENST00000404568.3	-	12	2351	c.2132G>A	c.(2131-2133)aGa>aAa	p.R711K	DQX1_ENST00000393951.2_Missense_Mutation_p.R711K	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	711						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ACAGGGATCTCTGAACTCCTG	0.522																																							uc010yrw.1		NA																	0				ovary(2)	2						c.(2131-2133)AGA>AAA		DEAQ box polypeptide 1 (RNA-dependent ATPase)							141.0	126.0	131.0					2																	74745595		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74745595C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.2132G>A	2.37:g.74745595C>T	ENSP00000384621:p.Arg711Lys					DQX1_uc002smc.2_Missense_Mutation_p.R272K	p.R711K	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			12	2297	-			711					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.2132G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	0.579	-0.837800	0.02692	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02682	4.2;4.2	5.0	3.18	0.36537	.	0.918968	0.09159	N	0.840407	T	0.01730	0.0055	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47623	-0.9103	10	0.21540	T	0.41	.	8.2075	0.31465	0.0:0.8061:0.0:0.1939	.	711	Q8TE96	DQX1_HUMAN	K	711	ENSP00000377523:R711K;ENSP00000384621:R711K	ENSP00000377523:R711K	R	-	2	0	DQX1	74599103	0.008000	0.16893	0.212000	0.23672	0.494000	0.33585	1.218000	0.32467	1.096000	0.41439	0.563000	0.77884	AGA		0.522	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		16	65	0	0	0	0.00499	0	16	65				
LRRTM4	80059	broad.mit.edu	37	2	77746718	77746718	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:77746718C>G	ENST00000409093.1	-	3	613	c.277G>C	c.(277-279)Gac>Cac	p.D93H	LRRTM4_ENST00000409282.1_Missense_Mutation_p.D94H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D94H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.D93H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D93H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	93					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAATTATGGTCAAGATAAAGC	0.388																																							uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(277-279)GAC>CAC		leucine rich repeat transmembrane neuronal 4							134.0	125.0	128.0					2																	77746718		1878	4112	5990	SO:0001583	missense	80059					integral to membrane		g.chr2:77746718C>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.277G>C	2.37:g.77746718C>G	ENSP00000386357:p.Asp93His					LRRTM4_uc002snq.2_Missense_Mutation_p.D93H|LRRTM4_uc002sns.2_Missense_Mutation_p.D93H|LRRTM4_uc002snt.2_Missense_Mutation_p.D94H	p.D93H	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	692	-			93			LRR 2.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.277G>C	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596221	0.66332	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	N	0.17764	0.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.62277	-0.6888	10	0.49607	T	0.09	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	94;93;93	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	94;93;93;93;94	ENSP00000387228:D94H;ENSP00000387297:D93H;ENSP00000386357:D93H;ENSP00000386236:D93H;ENSP00000386286:D94H	ENSP00000386236:D93H	D	-	1	0	LRRTM4	77600226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAC		0.388	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		9	47	0	0	0	0.008291	0	9	47				
REG3A	5068	broad.mit.edu	37	2	79385829	79385829	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:79385829C>A	ENST00000409839.3	-	3	179	c.143G>T	c.(142-144)gGc>gTc	p.G48V	REG3A_ENST00000393878.1_Missense_Mutation_p.G48V|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.G48V	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	48	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCAGTGGGAGCCATAGGCCTT	0.552																																							uc002sod.1		NA																	0				skin(1)	1						c.(142-144)GGC>GTC		pancreatitis-associated protein precursor							109.0	98.0	102.0					2																	79385829		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385829C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.143G>T	2.37:g.79385829C>A	ENSP00000386630:p.Gly48Val					REG3A_uc002soe.1_Missense_Mutation_p.G48V|REG3A_uc002sof.1_Missense_Mutation_p.G48V	p.G48V	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	398	-			48			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.143G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054488	0.36277	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.16743	2.32;2.32;2.32	3.87	-7.74	0.01241	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	1.514980	0.03830	N	0.268970	T	0.29061	0.0722	M	0.85041	2.73	0.09310	N	0.999995	B	0.27117	0.168	B	0.29524	0.103	T	0.43782	-0.9370	10	0.72032	D	0.01	.	17.5759	0.87949	0.0:0.7869:0.1252:0.0878	.	48	Q06141	REG3A_HUMAN	V	48	ENSP00000386630:G48V;ENSP00000377456:G48V;ENSP00000304311:G48V	ENSP00000304311:G48V	G	-	2	0	REG3A	79239337	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.917000	0.04025	-2.226000	0.00723	-0.232000	0.12228	GGC		0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		13	43	1	0	0.000308642	0.003163	0.000343903	13	43				
SLC9A2	6549	broad.mit.edu	37	2	103299909	103299909	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:103299909G>T	ENST00000233969.2	+	4	1336	c.1194G>T	c.(1192-1194)ctG>ctT	p.L398L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	398					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCTTCACCCTGGCCTTCTGCC	0.502																																							uc002tca.2		NA																	0				central_nervous_system(3)|skin(3)|breast(2)	8						c.(1192-1194)CTG>CTT		solute carrier family 9 (sodium/hydrogen							152.0	128.0	136.0					2																	103299909		2203	4300	6503	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103299909G>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1194G>T	2.37:g.103299909G>T							p.L398L	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			4	1336	+			398			Helical; Name=K/M9; (Potential).		B2RMS2	Silent	SNP	ENST00000233969.2	37	c.1194G>T	CCDS2062.1																																																																																				0.502	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			10	35	1	0	1.58986e-06	0.008291	1.94395e-06	10	35				
MFSD9	84804	broad.mit.edu	37	2	103335097	103335097	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:103335097C>T	ENST00000258436.5	-	6	1250	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	403					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TGGGCCCCGCCCACAGTCAGC	0.657																																							uc002tcb.2		NA																	0				ovary(2)|breast(2)	4						c.(1207-1209)GGC>AGC		major facilitator superfamily domain containing							27.0	32.0	31.0					2																	103335097		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335097C>T		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1207G>A	2.37:g.103335097C>T	ENSP00000258436:p.Gly403Ser					MFSD9_uc010fja.2_RNA	p.G403S	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			6	1275	-			403					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.1207G>A	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455530	0.84209	.	.	ENSG00000135953	ENST00000258436	T	0.80033	-1.33	5.18	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.107774	0.64402	D	0.000006	D	0.87358	0.6157	M	0.72894	2.215	0.58432	D	0.999997	D	0.89917	1.0	D	0.74348	0.983	D	0.85534	0.1211	10	0.26408	T	0.33	-0.7494	13.916	0.63897	0.0:0.9257:0.0:0.0743	.	403	Q8NBP5	MFSD9_HUMAN	S	403	ENSP00000258436:G403S	ENSP00000258436:G403S	G	-	1	0	MFSD9	102701529	1.000000	0.71417	0.068000	0.19968	0.980000	0.70556	7.245000	0.78237	1.313000	0.45069	0.650000	0.86243	GGC		0.657	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		7	39	0	0	0	0.004482	0	7	39				
GPR45	11250	broad.mit.edu	37	2	105858977	105858977	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:105858977C>T	ENST00000258456.1	+	1	778	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						ATCCTCAACACGGTCCGCAAG	0.677																																							uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(661-663)ACG>ATG		G protein-coupled receptor 45							60.0	58.0	59.0					2																	105858977		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858977C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.662C>T	2.37:g.105858977C>T	ENSP00000258456:p.Thr221Met						p.T221M	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	778	+			221			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.662C>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588704	0.86851	.	.	ENSG00000135973	ENST00000258456	T	0.40476	1.03	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.119854	0.56097	D	0.000037	T	0.69169	0.3081	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74203	-0.3741	10	0.56958	D	0.05	-15.437	18.125	0.89583	0.0:1.0:0.0:0.0	.	221	Q9Y5Y3	GPR45_HUMAN	M	221	ENSP00000258456:T221M	ENSP00000258456:T221M	T	+	2	0	GPR45	105225409	1.000000	0.71417	0.942000	0.38095	0.988000	0.76386	6.041000	0.70988	2.373000	0.80994	0.462000	0.41574	ACG		0.677	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		7	32	0	0	0	0.001984	0	7	32				
GPR45	11250	broad.mit.edu	37	2	105858998	105858998	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:105858998G>T	ENST00000258456.1	+	1	799	c.683G>T	c.(682-684)cGc>cTc	p.R228L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AACGCCGTGCGCGTGCACAAC	0.652																																							uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(682-684)CGC>CTC		G protein-coupled receptor 45							72.0	73.0	73.0					2																	105858998		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858998G>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.683G>T	2.37:g.105858998G>T	ENSP00000258456:p.Arg228Leu						p.R228L	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	799	+			228			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.683G>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299191	0.81025	.	.	ENSG00000135973	ENST00000258456	T	0.72615	-0.67	5.1	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.85379	0.5683	M	0.88775	2.98	0.47123	D	0.999326	D	0.89917	1.0	D	0.87578	0.998	D	0.86633	0.1887	10	0.46703	T	0.11	-13.8955	13.5861	0.61931	0.0772:0.0:0.9228:0.0	.	228	Q9Y5Y3	GPR45_HUMAN	L	228	ENSP00000258456:R228L	ENSP00000258456:R228L	R	+	2	0	GPR45	105225430	0.998000	0.40836	0.347000	0.25668	0.940000	0.58332	7.951000	0.87819	1.136000	0.42199	0.462000	0.41574	CGC		0.652	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		8	57	1	0	5.18039e-06	0.00308	6.22398e-06	8	57				
SLC5A7	60482	broad.mit.edu	37	2	108622574	108622574	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:108622574C>A	ENST00000264047.2	+	7	1087	c.811C>A	c.(811-813)Caa>Aaa	p.Q271K	SLC5A7_ENST00000540517.1_Missense_Mutation_p.Q166K|SLC5A7_ENST00000409059.1_Missense_Mutation_p.Q271K	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	271					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CACCTATGCTCAAGTGCTGTC	0.537																																							uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(811-813)CAA>AAA		solute carrier family 5 (choline transporter),	Choline(DB00122)						129.0	107.0	114.0					2																	108622574		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108622574C>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.811C>A	2.37:g.108622574C>A	ENSP00000264047:p.Gln271Lys					SLC5A7_uc010ywm.1_Missense_Mutation_p.Q24K|SLC5A7_uc010fjj.2_Missense_Mutation_p.Q271K|SLC5A7_uc010ywn.1_Missense_Mutation_p.Q158K	p.Q271K	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			7	1087	+			271			Extracellular (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.811C>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321371	0.60634	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.90676	-2.52;-2.71;-2.52	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	L	0.39085	1.19	0.80722	D	1	B	0.23806	0.091	B	0.40329	0.326	T	0.82084	-0.0632	10	0.06365	T	0.9	-11.0443	19.8703	0.96847	0.0:1.0:0.0:0.0	.	271	Q9GZV3	SC5A7_HUMAN	K	271;166;271	ENSP00000387346:Q271K;ENSP00000445351:Q166K;ENSP00000264047:Q271K	ENSP00000264047:Q271K	Q	+	1	0	SLC5A7	107989006	1.000000	0.71417	0.997000	0.53966	0.637000	0.38172	7.773000	0.85462	2.770000	0.95276	0.650000	0.86243	CAA		0.537	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			23	78	1	0	7.92952e-12	0.003954	1.15732e-11	23	78				
RANBP2	5903	broad.mit.edu	37	2	109352623	109352623	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:109352623G>T	ENST00000283195.6	+	6	826	c.700G>T	c.(700-702)Gac>Tac	p.D234Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	234					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AACCAATACAGACTTACTGCT	0.388																																							uc002tem.3		NA																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(700-702)GAC>TAC		RAN binding protein 2							116.0	141.0	133.0					2																	109352623		2202	4281	6483	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109352623G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.700G>T	2.37:g.109352623G>T	ENSP00000283195:p.Asp234Tyr						p.D234Y	NM_006267	NP_006258	P49792	RBP2_HUMAN			6	826	+			234					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.700G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170665	0.78452	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.30448	1.53	5.13	5.13	0.70059	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.51143	0.1657	L	0.51422	1.61	0.39211	D	0.963325	D	0.89917	1.0	D	0.68765	0.96	T	0.54761	-0.8245	9	0.72032	D	0.01	-19.4231	18.9341	0.92579	0.0:0.0:1.0:0.0	.	234	P49792	RBP2_HUMAN	Y	234	ENSP00000283195:D234Y	ENSP00000283195:D234Y	D	+	1	0	RANBP2	108719055	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	6.406000	0.73276	2.567000	0.86603	0.555000	0.69702	GAC		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		18	78	1	0	4.35082e-09	0.010504	5.87431e-09	18	78				
CNTNAP5	129684	broad.mit.edu	37	2	125555898	125555898	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:125555898G>T	ENST00000431078.1	+	19	3578		c.e19+1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G1072V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCAAGAATGGTGAGTGTGAT	0.502																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.e19+1		contactin associated protein-like 5 precursor							88.0	87.0	87.0					2																	125555898		1989	4172	6161	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125555898G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3214+1G>T	2.37:g.125555898G>T						CNTNAP5_uc010flu.2_Splice_Site_p.G1073_splice	p.G1072_splice	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	19	3578	+								Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37	c.3214_splice	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812169	0.90707	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3095	0.94179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	125272368	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.861000	0.92277	2.810000	0.96702	0.650000	0.86243	.		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Intron	4	22	1	0	0.00909568	0.009096	0.00967948	4	22				
SMPD4	55627	broad.mit.edu	37	2	130931107	130931107	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:130931107C>A	ENST00000339679.7	-	4	357	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	SMPD4_ENST00000351288.6_Silent_p.V122V|SMPD4_ENST00000409031.1_Silent_p.V122V|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000426662.2_Intron			Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	0					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GAAATTCCATCACGATGCTGT	0.527																																							uc002tqq.1		NA																	0					0						c.(364-366)GTG>GTT		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						59.0	54.0	56.0					2																	130931107		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130931107C>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000339679.7:c.103G>T	2.37:g.130931107C>A	ENSP00000339721:p.Asp35Tyr					SMPD4_uc002tqp.1_5'Flank|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Silent_p.V122V|SMPD4_uc002tqs.1_Intron|SMPD4_uc002tqt.1_5'UTR|SMPD4_uc010zaa.1_Missense_Mutation_p.D35Y|SMPD4_uc010zab.1_Intron|SMPD4_uc010zac.1_Intron|SMPD4_uc010zad.1_Intron	p.V122V	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			4	886	-	Colorectal(110;0.1)		83					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000339679.7	37	c.366G>T		.	.	.	.	.	.	.	.	.	.	c	0.608	-0.826294	0.02734	.	.	ENSG00000136699	ENST00000339679	.	.	.	3.74	-7.47	0.01365	.	.	.	.	.	T	0.35307	0.0927	.	.	.	0.22737	N	0.998799	B	0.18968	0.032	B	0.21360	0.034	T	0.30475	-0.9977	7	0.56958	D	0.05	.	11.8233	0.52252	0.0:0.2411:0.6096:0.1492	.	35	B4E0T5	.	Y	35	.	ENSP00000339721:D35Y	D	-	1	0	SMPD4	130647577	0.000000	0.05858	0.107000	0.21349	0.309000	0.27889	-2.431000	0.01023	-2.905000	0.00310	-0.519000	0.04390	GAT		0.527	SMPD4-201	KNOWN	basic	protein_coding	protein_coding		NM_017751		9	42	1	0	1.76689e-08	0.006214	2.31765e-08	9	42				
LOC401010	401010	broad.mit.edu	37	2	132201296	132201296	+	IGR	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:132201296G>C								AC073869.19 (34674 upstream) : RP11-109E12.1 (18097 downstream)																							GCATTGTGCAGGTGTATGGCG	0.607																																							uc002tst.2		NA																	0					0						c.(706-708)CTG>GTG		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132201296G>C																													2.37:g.132201296G>C							p.L236V	NR_002826						1	1172	-									Missense_Mutation	SNP		37	c.706C>G																																																																																				0	0.607									13	43	0	0	0	0.00245	0	13	43				
MCM6	4175	broad.mit.edu	37	2	136630325	136630325	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:136630325C>T	ENST00000264156.2	-	2	256	c.196G>A	c.(196-198)Gtg>Atg	p.V66M		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	66					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TCCAGGTCCACAAAACTCACA	0.403																																					Ovarian(196;141 2104 8848 24991 25939)	Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NA																	0					0						c.(196-198)GTG>ATG		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						170.0	159.0	162.0					2																	136630325		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136630325C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.196G>A	2.37:g.136630325C>T	ENSP00000264156:p.Val66Met						p.V66M	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	2	272	-			66					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.196G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931968	0.34096	.	.	ENSG00000076003	ENST00000264156	T	0.11169	2.8	5.85	-1.32	0.09201	Nucleic acid-binding, OB-fold-like (1);	0.631136	0.17458	N	0.173548	T	0.05502	0.0145	N	0.22421	0.69	0.19300	N	0.999975	B	0.10296	0.003	B	0.17433	0.018	T	0.30060	-0.9991	10	0.52906	T	0.07	1.0721	1.62	0.02711	0.2449:0.3873:0.0931:0.2748	.	66	Q14566	MCM6_HUMAN	M	66	ENSP00000264156:V66M	ENSP00000264156:V66M	V	-	1	0	MCM6	136346795	0.349000	0.24870	0.860000	0.33809	0.986000	0.74619	0.138000	0.16016	-0.129000	0.11620	-0.345000	0.07892	GTG		0.403	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		16	71	0	0	0	0.003163	0	16	71				
NEB	4703	broad.mit.edu	37	2	152507090	152507090	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:152507090C>G	ENST00000172853.10	-	53	7372	c.7225G>C	c.(7225-7227)Gag>Cag	p.E2409Q	NEB_ENST00000397345.3_Missense_Mutation_p.E2409Q|NEB_ENST00000409198.1_Missense_Mutation_p.E2409Q|NEB_ENST00000603639.1_Missense_Mutation_p.E2409Q|NEB_ENST00000427231.2_Missense_Mutation_p.E2409Q|NEB_ENST00000604864.1_Missense_Mutation_p.E2409Q			P20929	NEBU_HUMAN	nebulin	2409					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAACTGACCTCACTTTGCAGT	0.338																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(7225-7227)GAG>CAG		nebulin isoform 3							108.0	102.0	104.0					2																	152507090		1887	4112	5999	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152507090C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7225G>C	2.37:g.152507090C>G	ENSP00000172853:p.Glu2409Gln						p.E2409Q	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	53	7416	-			2409			Nebulin 64.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7225G>C		.	.	.	.	.	.	.	.	.	.	C	22.3	4.277326	0.80580	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.47	5.47	0.80525	.	0.126271	0.53938	D	0.000056	T	0.51719	0.1691	L	0.49126	1.545	0.80722	D	1	P	0.43024	0.798	P	0.48334	0.574	T	0.52764	-0.8532	10	0.56958	D	0.05	.	13.6041	0.62037	0.0:0.9259:0.0:0.0741	.	2409	P20929	NEBU_HUMAN	Q	2409	ENSP00000386259:E2409Q;ENSP00000380505:E2409Q;ENSP00000416578:E2409Q;ENSP00000172853:E2409Q	ENSP00000172853:E2409Q	E	-	1	0	NEB	152215336	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.899000	0.63245	2.583000	0.87209	0.650000	0.86243	GAG		0.338	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	92	0	0	0	0.001984	0	5	92				
TBR1	10716	broad.mit.edu	37	2	162273430	162273430	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:162273430C>T	ENST00000389554.3	+	1	826	c.509C>T	c.(508-510)cCc>cTc	p.P170L	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	170					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CAGGGATACCCCACGGCCGGC	0.647																																							uc002ubw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(508-510)CCC>CTC		T-box, brain, 1							70.0	74.0	73.0					2																	162273430		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273430C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.509C>T	2.37:g.162273430C>T	ENSP00000374205:p.Pro170Leu					TBR1_uc010foy.2_5'Flank	p.P170L	NM_006593	NP_006584	Q16650	TBR1_HUMAN			1	811	+			170					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.509C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267555	0.40095	.	.	ENSG00000136535	ENST00000389554	D	0.87256	-2.23	5.39	5.39	0.77823	.	0.136158	0.49916	D	0.000123	D	0.90861	0.7129	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89084	0.3478	10	0.34782	T	0.22	.	17.8745	0.88821	0.0:1.0:0.0:0.0	.	170	Q16650	TBR1_HUMAN	L	170	ENSP00000374205:P170L	ENSP00000374205:P170L	P	+	2	0	TBR1	161981676	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	5.790000	0.69038	2.803000	0.96430	0.655000	0.94253	CCC		0.647	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		30	129	0	0	0	0.013726	0	30	129				
ITGA6	3655	broad.mit.edu	37	2	173333936	173333936	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:173333936G>T	ENST00000264106.6	+	4	674	c.471G>T	c.(469-471)ctG>ctT	p.L157L	ITGA6_ENST00000343713.4_Silent_p.L157L|ITGA6_ENST00000375221.2_Silent_p.L157L|ITGA6_ENST00000409080.1_Silent_p.L157L|ITGA6_ENST00000409532.1_Silent_p.L43L|ITGA6_ENST00000264107.7_Silent_p.L157L			P23229	ITA6_HUMAN	integrin, alpha 6	157					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GTTATGTCCTGAGTCAGAATC	0.478																																							uc002uhp.1		NA																	0				ovary(1)|lung(1)	2						c.(469-471)CTG>CTT		integrin alpha chain, alpha 6 isoform a							180.0	173.0	176.0					2																	173333936		2203	4300	6503	SO:0001819	synonymous_variant	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173333936G>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.471G>T	2.37:g.173333936G>T						ITGA6_uc010fqk.1_Silent_p.L43L|ITGA6_uc010zdy.1_Silent_p.L43L|ITGA6_uc002uho.1_Silent_p.L157L|ITGA6_uc010fql.2_5'Flank	p.L157L	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		4	674	+			157			Extracellular (Potential).|FG-GAP 2.		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.471G>T																																																																																					0.478	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				36	98	1	0	4.14481e-20	0.00623	7.05554e-20	36	98				
ITGA6	3655	broad.mit.edu	37	2	173340351	173340351	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:173340351G>A	ENST00000264106.6	+	9	1527	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	ITGA6_ENST00000343713.4_Missense_Mutation_p.D398N|ITGA6_ENST00000375221.2_Missense_Mutation_p.D442N|ITGA6_ENST00000409080.1_Missense_Mutation_p.D403N|ITGA6_ENST00000409532.1_Missense_Mutation_p.D284N|ITGA6_ENST00000264107.7_Missense_Mutation_p.D403N			P23229	ITA6_HUMAN	integrin, alpha 6	442					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCCGTATGATGACTTGGGAAA	0.348																																							uc002uhp.1		NA																	0				ovary(1)|lung(1)	2						c.(1207-1209)GAC>AAC		integrin alpha chain, alpha 6 isoform a							158.0	164.0	162.0					2																	173340351		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173340351G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1324G>A	2.37:g.173340351G>A	ENSP00000264106:p.Asp442Asn					ITGA6_uc010zdy.1_Missense_Mutation_p.D284N|ITGA6_uc002uho.1_Missense_Mutation_p.D403N|ITGA6_uc010fqm.1_Missense_Mutation_p.D49N	p.D403N	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		8	1410	+			442			FG-GAP 6.|Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.1207G>A		.	.	.	.	.	.	.	.	.	.	G	19.65	3.866404	0.72065	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.55	4.66	0.58398	.	0.316308	0.38164	N	0.001784	T	0.63674	0.2531	L	0.37750	1.13	0.40322	D	0.978832	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.17722	0.008;0.012;0.019;0.011	T	0.61826	-0.6983	10	0.59425	D	0.04	.	15.7069	0.77592	0.0:0.0:0.862:0.138	.	398;442;403;403	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	N	284;403;442;442;398;403;442;398	ENSP00000386614:D284N;ENSP00000264107:D403N;ENSP00000264106:D442N;ENSP00000364369:D442N;ENSP00000341078:D398N;ENSP00000386896:D403N;ENSP00000406694:D442N;ENSP00000394169:D398N	ENSP00000264106:D442N	D	+	1	0	ITGA6	173048597	1.000000	0.71417	0.779000	0.31741	0.929000	0.56500	7.984000	0.88150	1.323000	0.45263	0.644000	0.83932	GAC		0.348	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				4	135	0	0	0	0.009096	0	4	135				
TTN	7273	broad.mit.edu	37	2	179404688	179404688	+	Missense_Mutation	SNP	G	G	T	rs74984787		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179404688G>T	ENST00000591111.1	-	302	93405	c.93181C>A	c.(93181-93183)Cct>Act	p.P31061T	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23762T|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32702T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23829T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30134T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23637T			Q8WZ42	TITIN_HUMAN	titin	31061	Ig-like 139.				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)			TCATAATCAGGATATTCTGGA	0.373																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(90400-90402)CCT>ACT		titin isoform N2-A							82.0	77.0	78.0					2																	179404688		1855	4102	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404688G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93181C>A	2.37:g.179404688G>T	ENSP00000465570:p.Pro31061Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P23829T|TTN_uc010zfi.1_Missense_Mutation_p.P23762T|TTN_uc010zfj.1_Missense_Mutation_p.P23637T	p.P30134T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		301	90624	-			31061					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.90400C>A		.	.	.	.	.	.	.	.	.	.	G	18.30	3.592678	0.66219	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;D;T;D	0.89123	-0.78;-2.44;-1.39;-2.47	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.96253	0.8778	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	D	0.96083	0.9055	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	23637;23762;23829;31061	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	30134;23637;23829;23762;23634	ENSP00000343764:P30134T;ENSP00000434586:P23637T;ENSP00000340554:P23829T;ENSP00000352154:P23762T	ENSP00000340554:P23829T	P	-	1	0	TTN	179112934	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.912000	0.87465	2.941000	0.99782	0.655000	0.94253	CCT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	36	1	0	0.00116845	0.001168	0.00128127	6	36				
TTN	7273	broad.mit.edu	37	2	179458737	179458737	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179458737C>A	ENST00000591111.1	-	247	53684	c.53460G>T	c.(53458-53460)gtG>gtT	p.V17820V	TTN_ENST00000359218.5_Silent_p.V10521V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.V19461V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Silent_p.V10588V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V16893V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.V10396V			Q8WZ42	TITIN_HUMAN	titin	17820	Ig-like 104.				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)			TACTGTTCTCCACAACCACAC	0.398																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(50677-50679)GTG>GTT		titin isoform N2-A							185.0	182.0	183.0					2																	179458737		1993	4178	6171	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458737C>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.53460G>T	2.37:g.179458737C>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V10588V|TTN_uc010zfi.1_Silent_p.V10521V|TTN_uc010zfj.1_Silent_p.V10396V	p.V16893V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	50903	-			17820					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.50679G>T																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	87	1	0	2.08457e-15	0.010818	3.36208e-15	30	87				
TTN	7273	broad.mit.edu	37	2	179575482	179575482	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179575482G>T	ENST00000591111.1	-	96	27615	c.27391C>A	c.(27391-27393)Ctg>Atg	p.L9131M	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L9448M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8204M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13262	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)			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)			CTGTTTTCCAGATAACTAATC	0.478																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(24610-24612)CTG>ATG		titin isoform N2-A							159.0	152.0	154.0					2																	179575482		1951	4152	6103	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575482G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27391C>A	2.37:g.179575482G>T	ENSP00000465570:p.Leu9131Met					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L4865M	p.L8204M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	24834	-			9131					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.24610C>A		.	.	.	.	.	.	.	.	.	.	G	12.21	1.868812	0.32977	.	.	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	6.17	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73369	0.3578	M	0.71036	2.16	0.80722	D	1	P	0.49696	0.927	P	0.52758	0.708	T	0.75714	-0.3221	9	0.87932	D	0	.	10.6922	0.45877	0.0737:0.1708:0.7555:0.0	.	9131	Q8WZ42	TITIN_HUMAN	M	8204	ENSP00000343764:L8204M	ENSP00000343764:L8204M	L	-	1	2	TTN	179283727	0.729000	0.28090	0.991000	0.47740	0.989000	0.77384	0.953000	0.29162	2.941000	0.99782	0.655000	0.94253	CTG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	65	1	0	4.3838e-07	0.001855	5.4814e-07	13	65				
TTN	7273	broad.mit.edu	37	2	179641604	179641605	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:179641604_179641605GG>AA	ENST00000591111.1	-	28	5210_5211	c.4986_4987CC>TT	c.(4984-4989)atCCca>atTTca	p.P1663S	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P1617S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P1663S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P1663S|TTN_ENST00000342175.6_Missense_Mutation_p.P1617S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P1663S|TTN_ENST00000460472.2_Missense_Mutation_p.P1617S			Q8WZ42	TITIN_HUMAN	titin	12510					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)			GTCCCCCGTGGGATGATTAACT	0.47																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(4984-4989)ATCCCA>ATTTCA		titin isoform N2-A																																				SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641604_179641605GG>AA	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.4986_4987delinsAA	2.37:g.179641604_179641605delinsAA	ENSP00000465570:p.Pro1663Ser					TTN_uc010zfh.1_Missense_Mutation_p.P1617S|TTN_uc010zfi.1_Missense_Mutation_p.P1617S|TTN_uc010zfj.1_Missense_Mutation_p.P1617S|TTN_uc002unb.2_Missense_Mutation_p.P1663S|uc002unc.1_5'Flank	p.P1663S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5210_5211	-			1663					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	DNP	ENST00000591111.1	37	c.4986_4987CC>TT																																																																																					0.470	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	46	0	0	0	0.004672	0	14	46				
FAM171B	165215	broad.mit.edu	37	2	187626597	187626597	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:187626597G>T	ENST00000304698.5	+	8	1731	c.1528G>T	c.(1528-1530)Gat>Tat	p.D510Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	510						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGATGCTCAAGATGAAAAGAG	0.423																																							uc002ups.2		NA																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.(1528-1530)GAT>TAT		KIAA1946							77.0	72.0	74.0					2																	187626597		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626597G>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1528G>T	2.37:g.187626597G>T	ENSP00000304108:p.Asp510Tyr					FAM171B_uc002upr.1_Missense_Mutation_p.D477Y|FAM171B_uc002upt.2_5'UTR	p.D510Y	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	1640	+			510			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1528G>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193644	0.58017	.	.	ENSG00000144369	ENST00000304698	T	0.29142	1.58	5.12	5.12	0.69794	.	0.182081	0.47093	D	0.000257	T	0.28665	0.0710	N	0.08118	0	0.44061	D	0.996807	P;P	0.36599	0.56;0.56	P;P	0.47528	0.549;0.549	T	0.33007	-0.9885	10	0.72032	D	0.01	-14.6561	16.9085	0.86134	0.0:0.0:1.0:0.0	.	510;511	Q6P995;A8K122	F171B_HUMAN;.	Y	510	ENSP00000304108:D510Y	ENSP00000304108:D510Y	D	+	1	0	FAM171B	187334842	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	5.195000	0.65131	2.627000	0.88993	0.655000	0.94253	GAT		0.423	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		4	14	1	0	0.00909568	0.009096	0.00967948	4	14				
FAM171B	165215	broad.mit.edu	37	2	187627401	187627401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:187627401G>T	ENST00000304698.5	+	8	2535	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	778						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.E778K(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCCTGGAGAAGAGTCGCCAGG	0.512																																							uc002ups.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(2332-2334)GAG>TAG		KIAA1946							60.0	60.0	60.0					2																	187627401		2203	4299	6502	SO:0001587	stop_gained	165215					integral to membrane	DNA binding	g.chr2:187627401G>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2332G>T	2.37:g.187627401G>T	ENSP00000304108:p.Glu778*					FAM171B_uc002upr.1_Nonsense_Mutation_p.E745*|FAM171B_uc002upt.2_Nonsense_Mutation_p.E247*	p.E778*	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	2444	+			778			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Nonsense_Mutation	SNP	ENST00000304698.5	37	c.2332G>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	38	6.749551	0.97809	.	.	ENSG00000144369	ENST00000304698	.	.	.	6.02	6.02	0.97574	.	0.109041	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-23.0115	15.2844	0.73816	0.0:0.0:0.8599:0.14	.	.	.	.	X	778	.	ENSP00000304108:E778X	E	+	1	0	FAM171B	187335646	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.909000	0.63314	2.850000	0.98022	0.650000	0.86243	GAG		0.512	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		7	30	1	0	8.12818e-05	0.001984	9.20528e-05	7	30				
HECW2	57520	broad.mit.edu	37	2	197184311	197184311	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:197184311T>A	ENST00000260983.3	-	9	1485	c.1303A>T	c.(1303-1305)Acc>Tcc	p.T435S	HECW2_ENST00000409111.1_Missense_Mutation_p.T79S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	435					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCAGAGCAGGTCGCTGTCCCC	0.502																																							uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1303-1305)ACC>TCC		HECT, C2 and WW domain containing E3 ubiquitin							56.0	57.0	57.0					2																	197184311		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184311T>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1303A>T	2.37:g.197184311T>A	ENSP00000260983:p.Thr435Ser					HECW2_uc002utl.1_Missense_Mutation_p.T79S	p.T435S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1486	-			435					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1303A>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	1.506	-0.550696	0.03996	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.29397	1.57;1.58	5.64	-11.3	0.00108	.	1.482540	0.03607	N	0.234303	T	0.09905	0.0243	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08743	-1.0707	10	0.09590	T	0.72	.	3.995	0.09554	0.1629:0.2227:0.441:0.1734	.	435	Q9P2P5	HECW2_HUMAN	S	79;435	ENSP00000386775:T79S;ENSP00000260983:T435S	ENSP00000260983:T435S	T	-	1	0	HECW2	196892556	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.852000	0.00731	-2.474000	0.00527	-1.267000	0.01435	ACC		0.502	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		11	44	0	0	0	0.00245	0	11	44				
INO80D	54891	broad.mit.edu	37	2	206869966	206869966	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:206869966C>G	ENST00000403263.1	-	11	2614	c.2210G>C	c.(2209-2211)cGt>cCt	p.R737P	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	737					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGTAGCAGAACGGAGCAGGTT	0.527																																							uc002vaz.3		NA																	0				ovary(1)	1						c.(2209-2211)CGT>CCT		INO80 complex subunit D							83.0	80.0	81.0					2																	206869966		1924	4139	6063	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869966C>G		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2210G>C	2.37:g.206869966C>G	ENSP00000384198:p.Arg737Pro						p.R737P	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	2615	-			737					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.2210G>C	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321488	0.23994	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.33438	1.41	5.81	2.04	0.26737	.	0.321645	0.37348	N	0.002128	T	0.19927	0.0479	N	0.19112	0.55	0.29147	N	0.878664	B	0.23490	0.086	B	0.29524	0.103	T	0.14200	-1.0481	10	0.42905	T	0.14	.	9.7831	0.40660	0.0:0.7225:0.0:0.2775	.	737	Q53TQ3-2	.	P	737	ENSP00000384198:R737P	ENSP00000233270:R737P	R	-	2	0	INO80D	206578211	1.000000	0.71417	0.993000	0.49108	0.390000	0.30446	2.647000	0.46639	0.097000	0.17492	-0.229000	0.12294	CGT		0.527	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		16	47	0	0	0	0.006122	0	16	47				
INO80D	54891	broad.mit.edu	37	2	206911327	206911327	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:206911327C>G	ENST00000403263.1	-	5	1378	c.974G>C	c.(973-975)tGg>tCg	p.W325S		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	325					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTCTTCAGACCAGTCCAAACC	0.433																																							uc002vaz.3		NA																	0				ovary(1)	1						c.(973-975)TGG>TCG		INO80 complex subunit D							67.0	65.0	65.0					2																	206911327		1866	4104	5970	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206911327C>G		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.974G>C	2.37:g.206911327C>G	ENSP00000384198:p.Trp325Ser						p.W325S	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			5	1379	-			325					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.974G>C	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223414	0.58668	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.46451	0.87;0.87	5.65	5.65	0.86999	.	0.113950	0.64402	D	0.000004	T	0.55257	0.1909	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.55270	-0.8167	10	0.59425	D	0.04	.	16.9322	0.86193	0.0:1.0:0.0:0.0	.	325	Q53TQ3-2	.	S	325;325;220	ENSP00000384198:W325S;ENSP00000402369:W220S	ENSP00000233270:W325S	W	-	2	0	INO80D	206619572	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.288000	0.72679	2.685000	0.91497	0.650000	0.86243	TGG		0.433	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		11	44	0	0	0	0.013537	0	11	44				
INO80D	54891	broad.mit.edu	37	2	206921201	206921201	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:206921201C>G	ENST00000403263.1	-	4	1089	c.685G>C	c.(685-687)Gtc>Ctc	p.V229L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	229					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GACTTGCAGACTGAACCCTGC	0.562																																							uc002vaz.3		NA																	0				ovary(1)	1						c.(685-687)GTC>CTC		INO80 complex subunit D							87.0	95.0	92.0					2																	206921201		2118	4233	6351	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206921201C>G		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.685G>C	2.37:g.206921201C>G	ENSP00000384198:p.Val229Leu						p.V229L	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			4	1090	-			229					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.685G>C	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179073	0.38511	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.27890	1.64;1.72	5.84	4.96	0.65561	.	0.301114	0.36374	N	0.002628	T	0.17450	0.0419	N	0.08118	0	0.42541	D	0.993071	B	0.02656	0.0	B	0.01281	0.0	T	0.04781	-1.0927	10	0.25751	T	0.34	.	14.7238	0.69329	0.0:0.931:0.0:0.069	.	229	Q53TQ3-2	.	L	229;229;124	ENSP00000384198:V229L;ENSP00000402369:V124L	ENSP00000233270:V229L	V	-	1	0	INO80D	206629446	1.000000	0.71417	0.981000	0.43875	0.959000	0.62525	2.594000	0.46189	1.479000	0.48272	0.655000	0.94253	GTC		0.562	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		7	29	0	0	0	0.008291	0	7	29				
MDH1B	130752	broad.mit.edu	37	2	207620124	207620124	+	Silent	SNP	C	C	T	rs111448923		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:207620124C>T	ENST00000374412.3	-	5	794	c.519G>A	c.(517-519)gcG>gcA	p.A173A	MDH1B_ENST00000454776.2_Silent_p.A173A|MDH1B_ENST00000449792.1_Silent_p.A75A|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	173					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GATGTTCTTCCGCCTGCTTGT	0.522																																					Pancreas(76;29 1355 28675 37177 51207)	Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(517-519)GCG>GCA		malate dehydrogenase 1B, NAD (soluble)							97.0	86.0	90.0					2																	207620124		2203	4300	6503	SO:0001819	synonymous_variant	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207620124C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.519G>A	2.37:g.207620124C>T						MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.A173A|MDH1B_uc010fuj.2_Silent_p.A75A|MDH1B_uc002vbt.2_Intron	p.A173A	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	574	-			173					A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	c.519G>A	CCDS33365.1																																																																																				0.522	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		3	72	0	0	0	0.004672	0	3	72				
CRYGC	1420	broad.mit.edu	37	2	208994205	208994205	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:208994205C>A	ENST00000282141.3	-	2	249	c.212G>T	c.(211-213)gGc>gTc	p.G71V		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	71	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCGCTGAGGCCCATCCATTG	0.552																																							uc002vco.3		NA																	0					0						c.(211-213)GGC>GTC		crystallin, gamma C							63.0	68.0	66.0					2																	208994205		2203	4300	6503	SO:0001583	missense	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994205C>A		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.212G>T	2.37:g.208994205C>A	ENSP00000282141:p.Gly71Val						p.G71V	NM_020989	NP_066269	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	250	-			71			Beta/gamma crystallin 'Greek key' 2.		Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	c.212G>T	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570917	0.86542	.	.	ENSG00000163254	ENST00000282141	T	0.75704	-0.96	4.98	4.98	0.66077	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93375	0.6738	10	0.87932	D	0	.	16.1101	0.81259	0.0:1.0:0.0:0.0	.	71	P07315	CRGC_HUMAN	V	71	ENSP00000282141:G71V	ENSP00000282141:G71V	G	-	2	0	CRYGC	208702450	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	5.779000	0.68948	2.468000	0.83385	0.462000	0.41574	GGC		0.552	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		23	90	1	0	4.26978e-12	0.00333	6.30953e-12	23	90				
MAP2	4133	broad.mit.edu	37	2	210560504	210560504	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:210560504A>T	ENST00000360351.4	+	7	4116	c.3610A>T	c.(3610-3612)Agc>Tgc	p.S1204C	MAP2_ENST00000447185.1_Missense_Mutation_p.S1200C|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1204					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAAGAAGAAAGCAAAGAGAC	0.463																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(3610-3612)AGC>TGC		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						56.0	58.0	57.0					2																	210560504		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560504A>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3610A>T	2.37:g.210560504A>T	ENSP00000353508:p.Ser1204Cys					MAP2_uc002vdc.1_Missense_Mutation_p.S1204C|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S1200C	p.S1204C	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3858	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1204					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3610A>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	7.610	0.674521	0.14841	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25749	1.78;1.78	5.76	4.42	0.53409	MAP2/Tau projection (1);	0.371936	0.26847	N	0.022188	T	0.36496	0.0969	L	0.47716	1.5	0.09310	N	1	D;D	0.56287	0.969;0.975	P;P	0.57204	0.719;0.815	T	0.11397	-1.0589	10	0.72032	D	0.01	-3.1899	11.6594	0.51337	0.8767:0.0:0.1233:0.0	.	1200;1204	P11137-3;P11137	.;MAP2_HUMAN	C	1204;1200	ENSP00000353508:S1204C;ENSP00000392164:S1200C	ENSP00000353508:S1204C	S	+	1	0	MAP2	210268749	0.001000	0.12720	0.986000	0.45419	0.069000	0.16628	0.496000	0.22499	2.212000	0.71576	0.528000	0.53228	AGC		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	21	0	0	0	0.000602	0	5	21				
PNKD	25953	broad.mit.edu	37	2	219136165	219136165	+	Missense_Mutation	SNP	C	C	G	rs199629886		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:219136165C>G	ENST00000273077.4	+	2	180	c.129C>G	c.(127-129)agC>agG	p.S43R	AAMP_ENST00000248450.4_5'Flank|AAMP_ENST00000444053.1_5'Flank|AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Missense_Mutation_p.S43R	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	43					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGCAAAGCCACAGCTCCC	0.557																																							uc002vhn.2		NA																	0					0						c.(127-129)AGC>AGG		myofibrillogenesis regulator 1 isoform 1							75.0	83.0	80.0					2																	219136165		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219136165C>G		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.129C>G	2.37:g.219136165C>G	ENSP00000273077:p.Ser43Arg					AAMP_uc002vhj.2_5'Flank|AAMP_uc002vhk.2_5'Flank|AAMP_uc010fvo.2_5'Flank|AAMP_uc002vhl.2_5'Flank|PNKD_uc002vhm.1_Missense_Mutation_p.S43R	p.S43R	NM_015488	NP_056303	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	273	+		Renal(207;0.0474)	43					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.129C>G	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659376	0.67586	.	.	ENSG00000127838	ENST00000248451;ENST00000273077	D;D	0.97553	-2.2;-4.43	5.25	5.25	0.73442	.	0.402514	0.24303	N	0.039713	D	0.93009	0.7775	N	0.14661	0.345	0.80722	D	1	B;B	0.23650	0.004;0.089	B;B	0.22152	0.002;0.038	D	0.90643	0.4576	10	0.72032	D	0.01	-18.3169	15.6032	0.76642	0.0:1.0:0.0:0.0	.	43;43	Q8N490;Q8N490-2	PNKD_HUMAN;.	R	43	ENSP00000248451:S43R;ENSP00000273077:S43R	ENSP00000248451:S43R	S	+	3	2	PNKD	218844409	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.923000	0.40055	2.467000	0.83353	0.561000	0.74099	AGC		0.557	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			4	99	0	0	0	0.009096	0	4	99				
DNPEP	23549	broad.mit.edu	37	2	220247885	220247885	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:220247885C>A	ENST00000273075.4	-	10	1124	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	DNPEP_ENST00000373972.1_Missense_Mutation_p.V227L|DNPEP_ENST00000490371.1_5'Flank|DNPEP_ENST00000523282.1_Missense_Mutation_p.V310L	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	292					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCATGCGCACGTGAGGCTCT	0.572																																							uc010zlg.1		NA																	0					0						c.(928-930)GTG>TTG		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						79.0	83.0	82.0					2																	220247885		2071	4199	6270	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220247885C>A		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.904G>T	2.37:g.220247885C>A	ENSP00000273075:p.Val302Leu					DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.V302L|DNPEP_uc002vlf.1_Missense_Mutation_p.V288L|DNPEP_uc002vlh.2_Missense_Mutation_p.V249L|DNPEP_uc002vli.1_Missense_Mutation_p.V249L	p.V310L	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1010	-		Renal(207;0.0474)	292					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.928G>T	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175537	0.38413	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935	.	.	.	4.93	4.93	0.64822	.	0.060728	0.64402	D	0.000003	T	0.59459	0.2195	L	0.60904	1.88	0.54753	D	0.999989	P;P;P;P	0.43973	0.823;0.532;0.549;0.823	B;B;B;B	0.42214	0.38;0.29;0.235;0.259	T	0.66272	-0.5965	9	0.66056	D	0.02	-25.0532	18.3468	0.90325	0.0:1.0:0.0:0.0	.	310;310;292;302	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	L	302;302;227;310;195;274	.	ENSP00000273075:V302L	V	-	1	0	DNPEP	219956129	0.977000	0.34250	0.954000	0.39281	0.296000	0.27459	2.230000	0.42999	2.553000	0.86117	0.462000	0.41574	GTG		0.572	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		20	75	1	0	1.42536e-11	0.004656	2.07666e-11	20	75				
DOCK10	55619	broad.mit.edu	37	2	225639826	225639826	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:225639826G>T	ENST00000258390.7	-	52	5876	c.5809C>A	c.(5809-5811)Ccc>Acc	p.P1937T	DOCK10_ENST00000409592.3_Missense_Mutation_p.P1931T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1937	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAATCCTTGGGGTTTACCTGT	0.502																																							uc010fwz.1		NA																	0				ovary(2)	2						c.(5809-5811)CCC>ACC		dedicator of cytokinesis 10							68.0	68.0	68.0					2																	225639826		1971	4160	6131	SO:0001583	missense	55619						GTP binding	g.chr2:225639826G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5809C>A	2.37:g.225639826G>T	ENSP00000258390:p.Pro1937Thr					DOCK10_uc002vob.2_Missense_Mutation_p.P1931T|DOCK10_uc002voa.2_Missense_Mutation_p.P593T	p.P1937T	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	52	6048	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1937			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5809C>A	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.84|14.84	2.655830|2.655830	0.47467|0.47467	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000535663|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.19669	.|2.13;2.13	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.22475|0.22475	0.0542|0.0542	L|L	0.39514|0.39514	1.22|1.22	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.28900	.|0.118;0.138;0.227	.|B;B;B	.|0.30646	.|0.118;0.118;0.074	T|T	0.02352|0.02352	-1.1172|-1.1172	6|10	.|0.29301	.|T	.|0.29	.|.	19.7173|19.7173	0.96127|0.96127	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1937;1931;599	.|Q96BY6;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.	H|T	86|1931;1937;444	.|ENSP00000386694:P1931T;ENSP00000258390:P1937T	.|ENSP00000258390:P1937T	P|P	-|-	2|1	0|0	DOCK10|DOCK10	225348070|225348070	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.420000|9.420000	0.97426|0.97426	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	CCC|CCC		0.502	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	21	1	0	0.00198382	0.001984	0.00215825	7	21				
NYAP2	57624	broad.mit.edu	37	2	226378343	226378343	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:226378343A>T	ENST00000272907.6	+	3	891	c.478A>T	c.(478-480)Agc>Tgc	p.S160C	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	160	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GACAGTCAGCAGCACTGCAGC	0.532																																							uc002voe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(478-480)AGC>TGC		hypothetical protein LOC57624							58.0	73.0	68.0					2																	226378343		2077	4230	6307	SO:0001583	missense	57624							g.chr2:226378343A>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.478A>T	2.37:g.226378343A>T	ENSP00000272907:p.Ser160Cys					KIAA1486_uc010fxa.1_Intron	p.S160C	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	3	653	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	160					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.478A>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736513	0.49045	.	.	ENSG00000144460	ENST00000272907	T	0.45668	0.89	5.56	3.16	0.36331	.	0.377661	0.27841	N	0.017626	T	0.35422	0.0931	L	0.27053	0.805	0.80722	D	1	P	0.44946	0.846	P	0.50378	0.639	T	0.17107	-1.0380	10	0.72032	D	0.01	-4.0603	4.7969	0.13277	0.6631:0.0:0.2089:0.128	.	160	Q9P242	K1486_HUMAN	C	160	ENSP00000272907:S160C	ENSP00000272907:S160C	S	+	1	0	KIAA1486	226086587	1.000000	0.71417	0.954000	0.39281	0.522000	0.34438	1.278000	0.33179	0.946000	0.37632	0.460000	0.39030	AGC		0.532	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		6	42	0	0	0	0.00308	0	6	42				
ANKMY1	51281	broad.mit.edu	37	2	241463418	241463418	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:241463418C>A	ENST00000272972.3	-	7	1663	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	ANKMY1_ENST00000373320.4_Missense_Mutation_p.Q253H|ANKMY1_ENST00000405002.1_Missense_Mutation_p.Q253H|ANKMY1_ENST00000536462.1_Missense_Mutation_p.Q295H|ANKMY1_ENST00000401804.1_Missense_Mutation_p.Q572H|ANKMY1_ENST00000361678.4_Missense_Mutation_p.Q342H|ANKMY1_ENST00000406958.1_Missense_Mutation_p.Q244H|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000405523.3_Missense_Mutation_p.Q342H|ANKMY1_ENST00000391987.1_Missense_Mutation_p.Q483H|ANKMY1_ENST00000403283.1_Missense_Mutation_p.Q421H|ANKMY1_ENST00000373318.2_Missense_Mutation_p.Q342H	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	483							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCAGCATGGCCTGCGAGAGCT	0.592																																							uc002vyz.1		NA																	0				central_nervous_system(1)	1						c.(1447-1449)CAG>CAT		ankyrin repeat and MYND domain containing 1							110.0	99.0	103.0					2																	241463418		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241463418C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1449G>T	2.37:g.241463418C>A	ENSP00000272972:p.Gln483His					ANKMY1_uc002vza.1_Missense_Mutation_p.Q342H|ANKMY1_uc010fzd.1_Missense_Mutation_p.Q572H|ANKMY1_uc002vzb.1_Missense_Mutation_p.Q244H|ANKMY1_uc002vzc.1_Missense_Mutation_p.Q342H|ANKMY1_uc002vzd.1_Missense_Mutation_p.Q342H|ANKMY1_uc010fze.1_Missense_Mutation_p.Q152H|ANKMY1_uc002vze.2_Missense_Mutation_p.Q244H	p.Q483H	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	7	1678	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	483					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.1449G>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403175	0.42613	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T;T	0.57107	2.83;3.57;0.44;2.15;0.44;4.31;2.4;0.42;2.15;2.12;2.42	4.06	-0.0685	0.13755	Ankyrin repeat-containing domain (1);	4.004540	0.00550	N	0.000255	T	0.55289	0.1911	L	0.32530	0.975	0.09310	N	1	P;B;D;B;D;D;P	0.61697	0.855;0.047;0.989;0.012;0.99;0.986;0.855	B;B;P;B;P;P;B	0.58172	0.359;0.014;0.834;0.005;0.783;0.808;0.359	T	0.40459	-0.9562	10	0.49607	T	0.09	-39.6105	4.4205	0.11477	0.0:0.359:0.4136:0.2274	.	483;295;253;342;244;342;483	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;ANKY1_HUMAN	H	342;244;483;342;483;253;421;572;295;342;253	ENSP00000362415:Q342H;ENSP00000384555:Q244H;ENSP00000272972:Q483H;ENSP00000355097:Q342H;ENSP00000375847:Q483H;ENSP00000362417:Q253H;ENSP00000383968:Q421H;ENSP00000385887:Q572H;ENSP00000444707:Q295H;ENSP00000385635:Q342H;ENSP00000385145:Q253H	ENSP00000272972:Q483H	Q	-	3	2	ANKMY1	241112091	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.528000	0.06193	0.064000	0.16427	-0.479000	0.04858	CAG		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		26	99	1	0	3.99451e-17	0.009535	6.57033e-17	26	99				
ANKMY1	51281	broad.mit.edu	37	2	241468821	241468821	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:241468821T>A	ENST00000272972.3	-	4	533	c.319A>T	c.(319-321)Acc>Tcc	p.T107S	ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.T196S|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.T107S|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373318.2_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	107							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGGATCTGGGTGCACAGCTTG	0.592																																							uc002vyz.1		NA																	0				central_nervous_system(1)	1						c.(319-321)ACC>TCC		ankyrin repeat and MYND domain containing 1							50.0	57.0	55.0					2																	241468821		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468821T>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.319A>T	2.37:g.241468821T>A	ENSP00000272972:p.Thr107Ser					ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Missense_Mutation_p.T196S|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	p.T107S	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	548	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	107					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.319A>T	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.03|11.03	1.518784|1.518784	0.27211|0.27211	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000443318|ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	.|T;T;T;T	.|0.39229	.|1.09;1.09;1.09;1.09	4.91|4.91	0.774|0.774	0.18521|0.18521	.|.	.|0.724800	.|0.13033	.|N	.|0.419183	T|T	0.29458|0.29458	0.0734|0.0734	L|L	0.56769|0.56769	1.78|1.78	0.43330|0.43330	D|D	0.995361|0.995361	.|B;B	.|0.22080	.|0.064;0.064	.|B;B	.|0.20767	.|0.031;0.031	T|T	0.12167|0.12167	-1.0558|-1.0558	5|10	.|0.10111	.|T	.|0.7	-15.1845|-15.1845	2.1027|2.1027	0.03683|0.03683	0.1591:0.0992:0.1487:0.5929|0.1591:0.0992:0.1487:0.5929	.|.	.|107;107	.|Q4ZFV3;Q9P2S6	.|.;ANKY1_HUMAN	L|S	51|107;107;196;107;107	.|ENSP00000272972:T107S;ENSP00000375847:T107S;ENSP00000385887:T196S;ENSP00000407015:T107S	.|ENSP00000272972:T107S	H|T	-|-	2|1	0|0	ANKMY1|ANKMY1	241117494|241117494	0.971000|0.971000	0.33674|0.33674	0.172000|0.172000	0.22920|0.22920	0.709000|0.709000	0.40893|0.40893	2.210000|2.210000	0.42816|0.42816	-0.019000|-0.019000	0.14055|0.14055	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		12	39	0	0	0	0.013537	0	12	39				
GPR35	2859	broad.mit.edu	37	2	241569781	241569781	+	Missense_Mutation	SNP	G	G	T	rs376265458		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:241569781G>T	ENST00000319838.5	+	6	1354	c.412G>T	c.(412-414)Gcg>Tcg	p.A138S	GPR35_ENST00000403859.1_Missense_Mutation_p.A138S|GPR35_ENST00000430267.1_Missense_Mutation_p.A138S|GPR35_ENST00000407714.1_Missense_Mutation_p.A138S|GPR35_ENST00000438013.2_Missense_Mutation_p.A169S	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	138					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A138T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGCCGTGTGCGCGGTCCTCTG	0.706																																							uc002vzs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(412-414)GCG>TCG		G protein-coupled receptor 35							16.0	18.0	17.0					2																	241569781		2159	4213	6372	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569781G>T		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.412G>T	2.37:g.241569781G>T	ENSP00000322731:p.Ala138Ser					GPR35_uc010fzh.1_Missense_Mutation_p.A169S|GPR35_uc010fzi.1_Missense_Mutation_p.A169S	p.A138S	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	1	987	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	138			Helical; Name=4; (Potential).		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.412G>T	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	7.611	0.674820	0.14841	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.01	-2.87	0.05700	GPCR, rhodopsin-like superfamily (1);	5.692270	0.02888	N	0.133775	T	0.44561	0.1299	M	0.75615	2.305	0.09310	N	1	P;P;P	0.49862	0.929;0.778;0.664	P;P;B	0.46362	0.506;0.514;0.391	T	0.42378	-0.9455	10	0.49607	T	0.09	-2.895	1.9157	0.03297	0.2545:0.3782:0.2378:0.1294	.	223;169;138	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	S	138;138;169;138;138	ENSP00000322731:A138S;ENSP00000385140:A138S;ENSP00000415890:A169S;ENSP00000384263:A138S;ENSP00000411788:A138S	ENSP00000322731:A138S	A	+	1	0	GPR35	241218454	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.225000	0.09151	-0.791000	0.04486	-0.384000	0.06662	GCG		0.706	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		3	31	1	0	6.4e-05	0.004672	7.33993e-05	3	31				
ATG4B	23192	broad.mit.edu	37	2	242590432	242590432	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:242590432G>T	ENST00000404914.3	+	2	121	c.18G>T	c.(16-18)ctG>ctT	p.L6L	ATG4B_ENST00000396411.3_5'UTR|ATG4B_ENST00000402096.1_5'UTR|ATG4B_ENST00000491867.1_3'UTR|ATG4B_ENST00000405546.3_Silent_p.L6L|ATG4B_ENST00000474739.2_5'UTR	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	6					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		CAGCTACTCTGACCTACGACA	0.418																																					Melanoma(78;458 1323 6342 12171 39523)	Melanoma(78;458 1323 6342 12171 39523)	uc002wbv.2		NA																	0					0						c.(16-18)CTG>CTT		APG4 autophagy 4 homolog B isoform a							72.0	66.0	68.0					2																	242590432		1921	4131	6052	SO:0001819	synonymous_variant	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242590432G>T	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.18G>T	2.37:g.242590432G>T						ATG4B_uc002wbu.2_5'UTR|ATG4B_uc002wbw.2_Silent_p.L6L|ATG4B_uc010zox.1_5'UTR|ATG4B_uc010zoy.1_5'UTR|ATG4B_uc010fzp.2_Silent_p.L6L|ATG4B_uc010zoz.1_5'Flank	p.L6L	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	2	121	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	6					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Silent	SNP	ENST00000404914.3	37	c.18G>T	CCDS46564.1																																																																																				0.418	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		6	20	1	0	5.18039e-06	0.00308	6.22398e-06	6	20				
SIRPA	140885	broad.mit.edu	37	20	1902288	1902288	+	Nonsense_Mutation	SNP	C	C	A	rs376873084		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:1902288C>A	ENST00000358771.4	+	3	836	c.684C>A	c.(682-684)tgC>tgA	p.C228*	SIRPA_ENST00000356025.3_Nonsense_Mutation_p.C228*|SIRPA_ENST00000400068.3_Nonsense_Mutation_p.C228*	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	228	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AAGTCATCTGCGAGGTGGCCC	0.612																																					GBM(155;1668 1920 5945 42733 48121)	GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2		NA																	0				ovary(1)	1						c.(682-684)TGC>TGA		signal-regulatory protein alpha precursor							65.0	56.0	59.0					20																	1902288		2203	4295	6498	SO:0001587	stop_gained	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902288C>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.684C>A	20.37:g.1902288C>A	ENSP00000351621:p.Cys228*					SIRPA_uc010zps.1_Nonsense_Mutation_p.C208*|SIRPA_uc002wfr.2_Nonsense_Mutation_p.C228*|SIRPA_uc002wfs.2_Nonsense_Mutation_p.C228*|SIRPA_uc002wft.2_Nonsense_Mutation_p.C228*	p.C228*	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	4	1044	+			228			Ig-like C1-type 1.|Extracellular (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Nonsense_Mutation	SNP	ENST00000358771.4	37	c.684C>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613542	0.87359	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	.	.	.	4.86	-2.52	0.06346	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4195	0.38541	0.0:0.442:0.0:0.558	.	.	.	.	X	228	.	ENSP00000348307:C228X	C	+	3	2	SIRPA	1850288	0.238000	0.23825	0.964000	0.40570	0.818000	0.46254	-1.225000	0.02956	-0.531000	0.06340	-0.145000	0.13849	TGC		0.612	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		13	63	1	0	2.5808e-16	0.006122	4.17867e-16	13	63				
SLC4A11	83959	broad.mit.edu	37	20	3211846	3211846	+	Silent	SNP	G	G	T	rs138137682	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:3211846G>T	ENST00000380056.3	-	8	1086	c.1039C>A	c.(1039-1041)Cgg>Agg	p.R347R	SLC4A11_ENST00000539553.2_Silent_p.R331R|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.R374R	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	347					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						ATGTCCTCCCGGATGCCCTTC	0.632																																					NSCLC(190;922 2139 10266 10292 38692)	NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NA																	0				ovary(1)	1						c.(1039-1041)CGG>AGG		solute carrier family 4 member 11							126.0	115.0	119.0					20																	3211846		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3211846G>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1039C>A	20.37:g.3211846G>T						SLC4A11_uc010zqe.1_Silent_p.R374R|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.R331R	p.R347R	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			8	1087	-			347			Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.1039C>A	CCDS13052.1																																																																																				0.632	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			18	89	1	0	1.40151e-16	0.010504	2.28262e-16	18	89				
SLC4A11	83959	broad.mit.edu	37	20	3211888	3211888	+	Splice_Site	SNP	G	G	A	rs546282306		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:3211888G>A	ENST00000380056.3	-	8	1044	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	SLC4A11_ENST00000539553.2_Splice_Site_p.P317S|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Splice_Site_p.P360S	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	333					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CACTTTGGGGGCTGGAGGAGA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		15575	0.0		0.001	False		,,,				2504	0.0				NSCLC(190;922 2139 10266 10292 38692)	NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NA																	0				ovary(1)	1						c.(997-999)CCC>TCC		solute carrier family 4 member 11							69.0	65.0	67.0					20																	3211888		2203	4300	6503	SO:0001630	splice_region_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3211888G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.997-1C>T	20.37:g.3211888G>A						SLC4A11_uc010zqe.1_Missense_Mutation_p.P360S|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.P317S	p.P333S	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			8	1045	-			333			Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.997C>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259844	0.39995	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.81078	-1.45;-1.44;-1.44	5.32	2.04	0.26737	.	0.271361	0.19710	U	0.107829	T	0.54191	0.1843	N	0.08118	0	0.09310	N	0.999997	P;P;P	0.43094	0.787;0.799;0.682	B;B;B	0.39258	0.295;0.212;0.154	T	0.52660	-0.8546	10	0.08599	T	0.76	.	6.1522	0.20318	0.2333:0.1439:0.6228:0.0	.	317;360;333	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	S	360;333;317	ENSP00000369399:P360S;ENSP00000369396:P333S;ENSP00000441370:P317S	ENSP00000369396:P333S	P	-	1	0	SLC4A11	3159888	0.807000	0.29009	0.629000	0.29254	0.304000	0.27724	1.224000	0.32539	1.241000	0.43820	0.563000	0.77884	CCC		0.647	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1		Missense_Mutation	16	33	0	0	0	0.004007	0	16	33				
CHGB	1114	broad.mit.edu	37	20	5903076	5903076	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:5903076C>A	ENST00000378961.4	+	4	490	c.286C>A	c.(286-288)Cac>Aac	p.H96N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	96						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CTCGGAAGCCCACGAGTCCTC	0.517																																							uc002wmg.2		NA																	0				breast(3)|skin(2)|ovary(1)	6						c.(286-288)CAC>AAC		chromogranin B precursor							49.0	50.0	49.0					20																	5903076		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903076C>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.286C>A	20.37:g.5903076C>A	ENSP00000368244:p.His96Asn					CHGB_uc010zqz.1_Intron	p.H96N	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	592	+			96					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.286C>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454069	0.26161	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01548	4.78;4.78	5.64	2.54	0.30619	.	0.896444	0.09646	N	0.774242	T	0.01627	0.0052	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.49542	-0.8929	10	0.33141	T	0.24	-0.0155	4.6589	0.12632	0.1348:0.5078:0.2624:0.095	.	96	P05060	SCG1_HUMAN	N	96;76	ENSP00000368244:H96N;ENSP00000416643:H76N	ENSP00000368244:H96N	H	+	1	0	CHGB	5851076	0.000000	0.05858	0.002000	0.10522	0.080000	0.17528	0.391000	0.20784	0.274000	0.22072	0.563000	0.77884	CAC		0.517	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		11	38	1	0	1.08611e-07	0.010729	1.38734e-07	11	38				
PLCB1	23236	broad.mit.edu	37	20	8713960	8713960	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:8713960T>C	ENST00000338037.6	+	19	1991	c.1964T>C	c.(1963-1965)aTg>aCg	p.M655T	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.M655T|PLCB1_ENST00000378637.2_Missense_Mutation_p.M655T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	655	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCAGAGTTCATGAGGAGGCCT	0.423																																							uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1963-1965)ATG>ACG		phosphoinositide-specific phospholipase C beta 1							144.0	127.0	133.0					20																	8713960		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8713960T>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1964T>C	20.37:g.8713960T>C	ENSP00000338185:p.Met655Thr					PLCB1_uc010zrb.1_Missense_Mutation_p.M554T|PLCB1_uc002wna.2_Missense_Mutation_p.M655T|PLCB1_uc002wnc.1_Missense_Mutation_p.M554T|PLCB1_uc002wnd.1_Missense_Mutation_p.M232T	p.M655T	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			19	1967	+			655			PI-PLC Y-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1964T>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099306	0.76983	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061	T;T;T	0.56611	0.45;0.45;0.45	5.13	5.13	0.70059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	H	0.97131	3.945	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.97110	0.998;1.0	D	0.88150	0.2850	10	0.87932	D	0	.	15.227	0.73359	0.0:0.0:0.0:1.0	.	655;655	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	T	655;655;655;575;575;1	ENSP00000367908:M655T;ENSP00000338185:M655T;ENSP00000367904:M655T	ENSP00000338185:M655T	M	+	2	0	PLCB1	8661960	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.974000	0.88039	2.047000	0.60756	0.491000	0.48974	ATG		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			19	84	0	0	0	0.010504	0	19	84				
PAK7	57144	broad.mit.edu	37	20	9561032	9561032	+	Silent	SNP	C	C	T	rs144202772	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:9561032C>T	ENST00000378429.3	-	5	1296	c.750G>A	c.(748-750)ctG>ctA	p.L250L	PAK7_ENST00000353224.5_Silent_p.L250L|RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Silent_p.L250L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	250	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CACTGTACGCCAGGCTCTCCT	0.552																																							uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(748-750)CTG>CTA		p21-activated kinase 7							79.0	76.0	77.0					20																	9561032		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561032C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.750G>A	20.37:g.9561032C>T						PAK7_uc002wnk.2_Silent_p.L250L|PAK7_uc002wnj.2_Silent_p.L250L|PAK7_uc010gby.1_Silent_p.L250L	p.L250L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1295	-			250			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.750G>A	CCDS13107.1																																																																																				0.552	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			10	63	0	0	0	0.008291	0	10	63				
JAG1	182	broad.mit.edu	37	20	10644641	10644641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:10644641C>A	ENST00000254958.5	-	3	924	c.409G>T	c.(409-411)Gag>Tag	p.E137*	JAG1_ENST00000423891.2_5'Flank	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	137					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCCCACGCCTCCACAAGCAAC	0.473									Alagille Syndrome																														uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(409-411)GAG>TAG		jagged 1 precursor							168.0	133.0	145.0					20																	10644641		2203	4300	6503	SO:0001587	stop_gained	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10644641C>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.409G>T	20.37:g.10644641C>A	ENSP00000254958:p.Glu137*						p.E137*	NM_000214	NP_000205	P78504	JAG1_HUMAN			3	925	-			137			Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Nonsense_Mutation	SNP	ENST00000254958.5	37	c.409G>T	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	43	9.852046	0.99280	.	.	ENSG00000101384	ENST00000254958	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000254958:E137X	E	-	1	0	JAG1	10592641	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.313000	0.78978	2.677000	0.91161	0.655000	0.94253	GAG		0.473	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		16	64	1	0	1.67942e-08	0.006122	2.21694e-08	16	64				
TASP1	55617	broad.mit.edu	37	20	13610663	13610663	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:13610663C>A	ENST00000337743.4	-	2	183	c.63G>T	c.(61-63)tcG>tcT	p.S21S	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000544472.1_Silent_p.S21S|TASP1_ENST00000539805.1_Silent_p.S21S	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	21					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TTTTACCAGCCGAAACCTGAG	0.468																																							uc002woi.2		NA																	0					0						c.(61-63)TCG>TCT		taspase 1 precursor							130.0	122.0	125.0					20																	13610663		2203	4300	6503	SO:0001819	synonymous_variant	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13610663C>A	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.63G>T	20.37:g.13610663C>A						TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Silent_p.S21S|TASP1_uc010zrj.1_RNA|TASP1_uc010zrk.1_Silent_p.S21S	p.S21S	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			2	180	-			21					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Silent	SNP	ENST00000337743.4	37	c.63G>T	CCDS13116.1																																																																																				0.468	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		12	78	1	0	1.5842e-08	0.001855	2.09458e-08	12	78				
FLRT3	23767	broad.mit.edu	37	20	14307371	14307371	+	Missense_Mutation	SNP	C	C	A	rs376150945		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:14307371C>A	ENST00000378053.3	-	2	1038	c.782G>T	c.(781-783)cGg>cTg	p.R261L	FLRT3_ENST00000341420.4_Missense_Mutation_p.R261L|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	261					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGGGGGCACCCGATTGATGTG	0.443																																							uc002wov.1		NA																	0				kidney(1)	1						c.(781-783)CGG>CTG		fibronectin leucine rich transmembrane protein 3							47.0	48.0	48.0					20																	14307371		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307371C>A	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.782G>T	20.37:g.14307371C>A	ENSP00000367292:p.Arg261Leu					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R261L	p.R261L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1249	-		Colorectal(1;0.0464)	261			Extracellular (Potential).|LRR 9.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.782G>T	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127282	0.20959	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.57907	0.37;0.37	5.9	4.92	0.64577	.	0.407214	0.22765	N	0.055905	T	0.35128	0.0921	N	0.17082	0.46	0.39582	D	0.969445	B	0.28400	0.21	B	0.34093	0.175	T	0.15723	-1.0427	10	0.12103	T	0.63	-1.3012	9.722	0.40308	0.0:0.7745:0.0:0.2255	.	261	Q9NZU0	FLRT3_HUMAN	L	261	ENSP00000367292:R261L;ENSP00000339912:R261L	ENSP00000339912:R261L	R	-	2	0	FLRT3	14255371	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.241000	0.43097	1.404000	0.46819	-0.355000	0.07637	CGG		0.443	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		7	39	1	0	8.12818e-05	0.001984	9.20528e-05	7	39				
KIF16B	55614	broad.mit.edu	37	20	16485072	16485072	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:16485072C>A	ENST00000354981.2	-	10	1278	c.1121G>T	c.(1120-1122)cGt>cTt	p.R374L	KIF16B_ENST00000355755.3_Missense_Mutation_p.R374L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.R374L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	374					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCGCAGCTCACGGATAAGTTT	0.408																																							uc002wpg.1		NA																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(1120-1122)CGT>CTT		kinesin-like motor protein C20orf23							248.0	227.0	234.0					20																	16485072		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16485072C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1121G>T	20.37:g.16485072C>A	ENSP00000347076:p.Arg374Leu					KIF16B_uc010gch.1_Missense_Mutation_p.R374L|KIF16B_uc010gci.1_Missense_Mutation_p.R374L|KIF16B_uc010gcj.1_Missense_Mutation_p.R374L	p.R374L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			10	1279	-			374			Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1121G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092014	0.94149	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.72615	-0.67;-0.67;-0.67	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.89044	0.6603	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	D	0.90906	0.4772	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	374;374;374;374	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	L	374	ENSP00000347076:R374L;ENSP00000347995:R374L;ENSP00000384164:R374L	ENSP00000347076:R374L	R	-	2	0	KIF16B	16433072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	CGT		0.408	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		27	121	1	0	3.1745e-13	0.008361	4.83761e-13	27	121				
SYNDIG1	79953	broad.mit.edu	37	20	24646039	24646039	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:24646039G>T	ENST00000376862.3	+	4	1309	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	226					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCCCGGCGGGCCCTATTCCT	0.587																																							uc002wtw.1		NA																	0					0						c.(676-678)GCC>TCC		transmembrane protein 90B							125.0	134.0	131.0					20																	24646039		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24646039G>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.676G>T	20.37:g.24646039G>T	ENSP00000366058:p.Ala226Ser						p.A226S	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			4	1309	+			226			Extracellular (Potential).		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.676G>T	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893644	0.91889	.	.	ENSG00000101463	ENST00000376862	D	0.93811	-3.29	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95227	0.8339	10	0.66056	D	0.02	-39.5477	17.4359	0.87552	0.0:0.0:1.0:0.0	.	226	Q9H7V2	SYNG1_HUMAN	S	226	ENSP00000366058:A226S	ENSP00000366058:A226S	A	+	1	0	SYNDIG1	24594039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.529000	0.98049	2.714000	0.92807	0.561000	0.74099	GCC		0.587	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		28	155	1	0	1.30988e-24	0.010818	2.3055e-24	28	155				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																							uc010ztl.1		NA																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(31-33)GCC>ACC		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625877G>A			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.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.A11T							2	63	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	52	0	0	0	0.004672	0	3	52				
ITCH	83737	broad.mit.edu	37	20	33068418	33068418	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:33068418G>T	ENST00000262650.6	+	20	2092	c.1956G>T	c.(1954-1956)ggG>ggT	p.G652G	ITCH_ENST00000374864.4_Silent_p.G611G|ITCH_ENST00000535650.1_Silent_p.G501G|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	652	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGTTCCATGGGAAATTCATAG	0.308																																							uc010geu.1		NA																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(1954-1956)GGG>GGT		itchy homolog E3 ubiquitin protein ligase							104.0	110.0	108.0					20																	33068418		2202	4300	6502	SO:0001819	synonymous_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33068418G>T	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1956G>T	20.37:g.33068418G>T						ITCH_uc002xak.2_Silent_p.G611G|ITCH_uc010zuj.1_Silent_p.G501G	p.G652G	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			20	2148	+			652			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	c.1956G>T	CCDS58768.1																																																																																				0.308	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			17	64	1	0	7.41877e-09	0.012319	9.93564e-09	17	64				
NCOA6	23054	broad.mit.edu	37	20	33345462	33345462	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:33345462T>G	ENST00000374796.2	-	8	3659	c.1089A>C	c.(1087-1089)ttA>ttC	p.L363F	NCOA6_ENST00000359003.2_Missense_Mutation_p.L363F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	363	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GTACCGTGGCTAAGGATGGTC	0.582																																							uc002xav.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(1087-1089)TTA>TTC		nuclear receptor coactivator 6							98.0	95.0	96.0					20																	33345462		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345462T>G	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1089A>C	20.37:g.33345462T>G	ENSP00000363929:p.Leu363Phe					NCOA6_uc002xaw.2_Missense_Mutation_p.L363F|NCOA6_uc010gew.1_Missense_Mutation_p.L320F	p.L363F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3660	-			363			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.1089A>C	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796083	0.50208	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.38887	1.11;1.11	5.64	4.54	0.55810	.	0.000000	0.52532	D	0.000079	T	0.47820	0.1466	L	0.32530	0.975	0.47094	D	0.999316	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	T	0.28681	-1.0036	10	0.14252	T	0.57	-3.853	11.0191	0.47707	0.0:0.0725:0.0:0.9275	.	363;363	F6M2K2;Q14686	.;NCOA6_HUMAN	F	363;363;320	ENSP00000363929:L363F;ENSP00000351894:L363F	ENSP00000351894:L363F	L	-	3	2	NCOA6	32809123	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.105000	0.31086	2.149000	0.67028	0.383000	0.25322	TTA		0.582	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		22	92	0	0	0	0.00632	0	22	92				
CEP250	11190	broad.mit.edu	37	20	34090820	34090820	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:34090820G>C	ENST00000397527.1	+	30	5343	c.4623G>C	c.(4621-4623)caG>caC	p.Q1541H	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1485H	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1541	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTGAGTCCCAGAGAGGACAGG	0.493																																							uc002xcm.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(4621-4623)CAG>CAC		centrosomal protein 2							68.0	73.0	71.0					20																	34090820		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34090820G>C	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4623G>C	20.37:g.34090820G>C	ENSP00000380661:p.Gln1541His					CEP250_uc010zve.1_Missense_Mutation_p.Q909H	p.Q1541H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		31	5294	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1541			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.4623G>C	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145554	0.37923	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.50548	2.68;2.66;0.74	4.36	4.36	0.52297	.	0.000000	0.52532	D	0.000065	T	0.67154	0.2863	M	0.83012	2.62	0.34393	D	0.694359	D	0.89917	1.0	D	0.91635	0.999	T	0.77370	-0.2613	10	0.62326	D	0.03	.	8.7961	0.34881	0.1434:0.0:0.8566:0.0	.	1541	Q9BV73	CP250_HUMAN	H	1541;1485;29	ENSP00000380661:Q1541H;ENSP00000341541:Q1485H;ENSP00000395992:Q29H	ENSP00000341541:Q1485H	Q	+	3	2	CEP250	33554234	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	2.810000	0.47979	2.278000	0.76064	0.561000	0.74099	CAG		0.493	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	58	0	0	0	0.000602	0	5	58				
DHX35	60625	broad.mit.edu	37	20	37634934	37634934	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:37634934C>T	ENST00000252011.3	+	12	1190	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	DHX35_ENST00000373323.4_Missense_Mutation_p.S355L|DHX35_ENST00000373325.2_Missense_Mutation_p.S386L	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	386	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCCAGGCATCAGCTAATCAG	0.502																																							uc002xjh.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(1156-1158)TCA>TTA		DEAH (Asp-Glu-Ala-His) box polypeptide 35							216.0	209.0	211.0					20																	37634934		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634934C>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1157C>T	20.37:g.37634934C>T	ENSP00000252011:p.Ser386Leu					DHX35_uc010zwa.1_Missense_Mutation_p.S231L|DHX35_uc010zwb.1_Missense_Mutation_p.S231L|DHX35_uc010zwc.1_Missense_Mutation_p.S355L	p.S386L	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			12	1168	+		Myeloproliferative disorder(115;0.00878)	386			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1157C>T	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640918	0.96693	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323	T;T;T	0.03242	4.0;4.0;4.0	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.979	T	0.54649	-0.8262	10	0.87932	D	0	.	20.0893	0.97812	0.0:1.0:0.0:0.0	.	355;386	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	L	386;386;355	ENSP00000362422:S386L;ENSP00000252011:S386L;ENSP00000362420:S355L	ENSP00000252011:S386L	S	+	2	0	DHX35	37068348	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.816000	0.86201	2.761000	0.94854	0.655000	0.94253	TCA		0.502	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		5	242	0	0	0	0.000602	0	5	242				
SEMG2	6407	broad.mit.edu	37	20	43851221	43851221	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:43851221C>A	ENST00000372769.3	+	2	1038	c.948C>A	c.(946-948)atC>atA	p.I316I		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	316	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GCATTTCTATCCAAACTGAAG	0.363																																							uc010ggz.2		NA																	0				skin(1)	1						c.(946-948)ATC>ATA		semenogelin II precursor							84.0	78.0	80.0					20																	43851221		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851221C>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.948C>A	20.37:g.43851221C>A						SEMG2_uc002xnk.2_Silent_p.I316I|SEMG2_uc002xnl.2_Silent_p.I316I	p.I316I	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	1005	+		Myeloproliferative disorder(115;0.0122)	316			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.948C>A	CCDS13346.1																																																																																				0.363	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		11	42	1	0	0.000673444	0.008291	0.000743389	11	42				
ZSWIM3	140831	broad.mit.edu	37	20	44507109	44507109	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:44507109C>A	ENST00000255152.2	+	2	2121	c.1912C>A	c.(1912-1914)Ctg>Atg	p.L638M	ZSWIM1_ENST00000372520.1_5'Flank|ZSWIM1_ENST00000372523.1_5'Flank|ZSWIM3_ENST00000454862.2_Missense_Mutation_p.L632M	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	638							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGGGCCAGAGCTGGAGGAACG	0.572																																							uc002xqd.2		NA																	0				ovary(2)	2						c.(1912-1914)CTG>ATG		zinc finger, SWIM domain containing 3							134.0	124.0	127.0					20																	44507109		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44507109C>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1912C>A	20.37:g.44507109C>A	ENSP00000255152:p.Leu638Met					ZSWIM3_uc010zxg.1_Missense_Mutation_p.L632M|ZSWIM1_uc010zxh.1_5'Flank|ZSWIM1_uc010ghi.2_5'Flank	p.L638M	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	2115	+		Myeloproliferative disorder(115;0.0122)	638					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.1912C>A	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931807	0.52866	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.34275	1.44;1.37	5.18	4.21	0.49690	.	0.104781	0.41938	D	0.000789	T	0.45856	0.1363	L	0.34521	1.04	0.34177	D	0.670426	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.56697	-0.7936	10	0.72032	D	0.01	-15.1978	10.3616	0.43998	0.0:0.8473:0.0:0.1527	.	632;638	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	M	638;632	ENSP00000255152:L638M;ENSP00000406313:L632M	ENSP00000255152:L638M	L	+	1	2	ZSWIM3	43940516	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.598000	0.24074	2.698000	0.92095	0.491000	0.48974	CTG		0.572	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		20	194	1	0	2.89027e-11	0.014323	4.1962e-11	20	194				
PCIF1	63935	broad.mit.edu	37	20	44567633	44567633	+	5'UTR	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:44567633G>A	ENST00000372409.3	+	0	359					NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1						negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CTGTGTGGGTGTGGAGATGGC	0.612																																							uc002xqs.2		NA																	0				skin(1)	1						c.(-7--3)GTGTG>GTATG		phosphorylated CTD interacting factor 1							71.0	72.0	72.0					20																	44567633		2203	4300	6503	SO:0001623	5_prime_UTR_variant	63935					nucleus		g.chr20:44567633G>A	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.-6G>A	20.37:g.44567633G>A								NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			3	309	+								E1P5P1|Q54AB9|Q9NT85	Translation_Start_Site	SNP	ENST00000372409.3	37	c.-5G>A	CCDS13388.1																																																																																				0.612	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		18	135	0	0	0	0.010504	0	18	135				
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																							uc002xtk.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(3757-3759)CAG>CAA		nuclear receptor coactivator 3 isoform a							46.0	53.0	50.0					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_uc010ght.1_Silent_p.Q1244Q|NCOA3_uc002xtl.2_Silent_p.Q1249Q|NCOA3_uc002xtm.2_Silent_p.Q1248Q|NCOA3_uc002xtn.2_Silent_p.Q1252Q|NCOA3_uc010zyc.1_Silent_p.Q1048Q	p.Q1253Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			20	3964	+			1253			Poly-Gln.|Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3759G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	38	0	0	0	0.004672	0	3	38				
CYP24A1	1591	broad.mit.edu	37	20	52773741	52773741	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:52773741G>A	ENST00000216862.3	-	11	1915	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S	CYP24A1_ENST00000395954.3_Missense_Mutation_p.P366S|CYP24A1_ENST00000395955.3_Missense_Mutation_p.P442S|CYP24A1_ENST00000460643.1_5'UTR	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	508					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AACGCGATGGGGAGTTCCCGG	0.537																																							uc002xwv.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(1522-1524)CCC>TCC		cytochrome P450 family 24 subfamily A	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						71.0	60.0	64.0					20																	52773741		2203	4300	6503	SO:0001583	missense	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52773741G>A	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1522C>T	20.37:g.52773741G>A	ENSP00000216862:p.Pro508Ser					CYP24A1_uc002xwu.1_Missense_Mutation_p.P366S|CYP24A1_uc002xww.2_Missense_Mutation_p.P442S	p.P508S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		11	1920	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		508					Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	c.1522C>T	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	g	17.70	3.455102	0.63401	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.79554	-0.15;4.95;-1.28	5.53	5.53	0.82687	.	0.107189	0.64402	D	0.000004	D	0.86234	0.5884	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.82287	-0.0532	10	0.20519	T	0.43	-0.1722	18.474	0.90785	0.0:0.0:1.0:0.0	.	442;508;366	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	S	508;442;366	ENSP00000216862:P508S;ENSP00000379285:P442S;ENSP00000379284:P366S	ENSP00000216862:P508S	P	-	1	0	CYP24A1	52207148	1.000000	0.71417	0.985000	0.45067	0.430000	0.31655	9.110000	0.94302	2.590000	0.87494	0.645000	0.84053	CCC		0.537	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			6	29	0	0	0	0.00308	0	6	29				
HMGB1P1	10357	broad.mit.edu	37	20	56063859	56063859	+	IGR	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:56063859C>T								RBM38 (79470 upstream) : CTCFL (7175 downstream)																							TATAGGTTTTCATTTGTCTTT	0.458																																							uc010zzl.1		NA																	0					NA						c.(223-225)ATG>ATA		high-mobility group box 1-like 1							143.0	151.0	148.0					20																	56063859		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr20:56063859C>T																													20.37:g.56063859C>T							p.M75I	NM_001008735	NP_001008735					1	225	-									Missense_Mutation	SNP		37	c.225G>A																																																																																				0	0.458									11	96	0	0	0	0.013537	0	11	96				
ZNF831	128611	broad.mit.edu	37	20	57769423	57769423	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:57769423G>T	ENST00000371030.2	+	1	3349	c.3349G>T	c.(3349-3351)Ggg>Tgg	p.G1117W		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1117							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCTTCTTCAGGGCCCCTGGT	0.667																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(3349-3351)GGG>TGG		zinc finger protein 831							33.0	37.0	36.0					20																	57769423		1876	4087	5963	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769423G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3349G>T	20.37:g.57769423G>T	ENSP00000360069:p.Gly1117Trp						p.G1117W	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3349	+	all_lung(29;0.0085)		1117					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3349G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190666	0.58017	.	.	ENSG00000124203	ENST00000371030	T	0.05447	3.44	4.61	3.65	0.41850	.	0.265847	0.26510	N	0.023978	T	0.13713	0.0332	L	0.32530	0.975	0.09310	N	0.999997	D	0.76494	0.999	D	0.75484	0.986	T	0.02560	-1.1141	10	0.66056	D	0.02	-16.6526	9.8237	0.40899	0.0978:0.0:0.9022:0.0	.	1117	Q5JPB2	ZN831_HUMAN	W	1117	ENSP00000360069:G1117W	ENSP00000360069:G1117W	G	+	1	0	ZNF831	57202818	0.001000	0.12720	0.014000	0.15608	0.210000	0.24377	1.061000	0.30542	1.060000	0.40578	0.609000	0.83330	GGG		0.667	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		11	54	1	0	5.50884e-06	0.013537	6.60901e-06	11	54				
LAMA5	3911	broad.mit.edu	37	20	60885062	60885062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:60885062G>A	ENST00000252999.3	-	78	10876	c.10810C>T	c.(10810-10812)Cag>Tag	p.Q3604*	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3604	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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)			CGGTGCCACTGGCCATCACAC	0.697																																							uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(10810-10812)CAG>TAG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						26.0	29.0	28.0					20																	60885062		2190	4284	6474	SO:0001587	stop_gained	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.chr20:60885062G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10810C>T	20.37:g.60885062G>A	ENSP00000252999:p.Gln3604*						p.Q3604*	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		78	10877	-	Breast(26;1.57e-08)		3604			Laminin G-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Nonsense_Mutation	SNP	ENST00000252999.3	37	c.10810C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	52	18.980155	0.99913	.	.	ENSG00000130702	ENST00000252999	.	.	.	5.51	4.54	0.55810	.	0.723975	0.13516	U	0.382091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	15.2555	0.73582	0.0:0.0:0.858:0.142	.	.	.	.	X	3604	.	ENSP00000252999:Q3604X	Q	-	1	0	LAMA5	60318457	0.980000	0.34600	0.185000	0.23176	0.198000	0.23893	3.910000	0.56371	1.300000	0.44818	0.457000	0.33378	CAG		0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		6	48	0	0	0	0.00308	0	6	48				
NTSR1	4923	broad.mit.edu	37	20	61391515	61391515	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:61391515G>T	ENST00000370501.3	+	4	1524	c.1153G>T	c.(1153-1155)Gtg>Ttg	p.V385L	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	385					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCTCTGCCCGGTGTGGCGGCG	0.622																																					GBM(37;400 780 6403 19663 35669)	GBM(37;400 780 6403 19663 35669)	uc002ydf.2		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(1153-1155)GTG>TTG		neurotensin receptor 1							135.0	113.0	121.0					20																	61391515		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61391515G>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.1153G>T	20.37:g.61391515G>T	ENSP00000359532:p.Val385Leu						p.V385L	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		4	1524	+	Breast(26;3.65e-08)		385			Cytoplasmic (Potential).		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.1153G>T	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136663	0.06711	.	.	ENSG00000101188	ENST00000370501	T	0.36157	1.27	4.43	-0.111	0.13576	.	0.908506	0.09258	N	0.826961	T	0.19287	0.0463	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.25572	-1.0128	10	0.27082	T	0.32	-0.5637	11.5822	0.50898	0.1116:0.7182:0.1702:0.0	.	385	P30989	NTR1_HUMAN	L	385	ENSP00000359532:V385L	ENSP00000359532:V385L	V	+	1	0	NTSR1	60861960	0.038000	0.19896	0.013000	0.15412	0.003000	0.03518	2.106000	0.41835	-0.304000	0.08843	-0.903000	0.02851	GTG		0.622	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			25	118	1	0	1.2476e-16	0.00632	2.03594e-16	25	118				
COL20A1	57642	broad.mit.edu	37	20	61957465	61957465	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:61957465G>T	ENST00000358894.6	+	30	3520	c.3420G>T	c.(3418-3420)gaG>gaT	p.E1140D	COL20A1_ENST00000326996.6_Missense_Mutation_p.E1172D|COL20A1_ENST00000435874.1_Missense_Mutation_p.E1147D|COL20A1_ENST00000422202.1_Missense_Mutation_p.E1147D	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1140	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAGGCCTGGAGGGAACTGCTG	0.667																																							uc011aau.1		NA																	0				central_nervous_system(1)	1						c.(3418-3420)GAG>GAT		collagen, type XX, alpha 1							52.0	62.0	59.0					20																	61957465		1958	4147	6105	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61957465G>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3420G>T	20.37:g.61957465G>T	ENSP00000351767:p.Glu1140Asp					COL20A1_uc011aav.1_Missense_Mutation_p.E961D	p.E1140D	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			30	3520	+	all_cancers(38;1.39e-10)		1140			Collagen-like 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3420G>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805851	0.50421	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-1.76;-1.76	3.73	2.61	0.31194	.	0.000000	0.85682	U	0.000000	D	0.88396	0.6425	N	0.04275	-0.24	0.32851	D	0.506614	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.85159	0.0991	10	0.22706	T	0.39	.	3.8105	0.08795	0.2699:0.0:0.7301:0.0	.	1147;1140	Q9P218-2;Q9P218	.;COKA1_HUMAN	D	1140;1172;1147;1147;275;130	ENSP00000351767:E1140D;ENSP00000323077:E1172D;ENSP00000408690:E1147D;ENSP00000414753:E1147D;ENSP00000410799:E275D;ENSP00000406345:E130D	ENSP00000323077:E1172D	E	+	3	2	COL20A1	61427910	0.985000	0.35326	0.985000	0.45067	0.665000	0.39181	0.257000	0.18369	1.644000	0.50603	0.491000	0.48974	GAG		0.667	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		11	71	1	0	0.000308642	0.003163	0.000343903	11	71				
APP	351	broad.mit.edu	37	21	27328036	27328036	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:27328036C>T	ENST00000346798.3	-	12	1525	c.1492G>A	c.(1492-1494)Gtc>Atc	p.V498I	APP_ENST00000359726.3_Missense_Mutation_p.V442I|APP_ENST00000357903.3_Missense_Mutation_p.V479I|APP_ENST00000440126.3_Missense_Mutation_p.V474I|APP_ENST00000439274.2_Missense_Mutation_p.V442I|APP_ENST00000348990.5_Missense_Mutation_p.V423I|APP_ENST00000358918.3_Missense_Mutation_p.V498I|APP_ENST00000448388.2_Missense_Mutation_p.V388I|APP_ENST00000354192.3_Missense_Mutation_p.V367I	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	498	Heparin-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCTGCGCGGACATACTTCTTT	0.483																																							uc002ylz.2		NA																	0				ovary(1)	1						c.(1492-1494)GTC>ATC		amyloid beta A4 protein isoform a precursor							231.0	184.0	200.0					21																	27328036		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27328036C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1492G>A	21.37:g.27328036C>T	ENSP00000284981:p.Val498Ile					APP_uc011acg.1_Missense_Mutation_p.V6I|APP_uc010glk.2_Missense_Mutation_p.V474I|APP_uc002yma.2_Missense_Mutation_p.V479I|APP_uc011ach.1_Missense_Mutation_p.V442I|APP_uc002ymb.2_Missense_Mutation_p.V423I|APP_uc010glj.2_Missense_Mutation_p.V367I|APP_uc011aci.1_Missense_Mutation_p.V388I	p.V498I	NM_000484	NP_000475	P05067	A4_HUMAN			12	1692	-		Breast(209;0.00295)	498			Heparin-binding.|Extracellular (Potential).		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1492G>A	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.399862|3.399862	0.62177|0.62177	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000448850|ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	.|T;T;T;T;T;T;T;T;T;T	.|0.40225	.|1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Amyloidogenic glycoprotein, E2 domain (2);	.|0.057139	.|0.64402	.|D	.|0.000001	T|T	0.40791|0.40791	0.1131|0.1131	L|L	0.31752|0.31752	0.955|0.955	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;B;B;B;B;B	.|0.35700	.|0.477;0.516;0.034;0.422;0.053;0.053;0.333	.|B;B;B;B;B;B;B	.|0.41917	.|0.142;0.37;0.038;0.087;0.041;0.041;0.298	T|T	0.21314|0.21314	-1.0249|-1.0249	5|10	.|0.45353	.|T	.|0.12	-27.9374|-27.9374	18.0151|18.0151	0.89236|0.89236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|388;442;474;367;423;479;498	.|E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.|.;.;.;.;.;.;A4_HUMAN	Y|I	400|498;367;423;479;498;442;388;474;442;85	.|ENSP00000284981:V498I;ENSP00000346129:V367I;ENSP00000345463:V423I;ENSP00000350578:V479I;ENSP00000351796:V498I;ENSP00000352760:V442I;ENSP00000388538:V388I;ENSP00000387483:V474I;ENSP00000398879:V442I;ENSP00000397795:V85I	.|ENSP00000284981:V498I	C|V	-|-	2|1	0|0	APP|APP	26249907|26249907	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.431000|0.431000	0.31685|0.31685	3.602000|3.602000	0.54066|0.54066	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.483	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		26	57	0	0	0	0.012213	0	26	57				
KRTAP19-8	728299	broad.mit.edu	37	21	32410681	32410681	+	Missense_Mutation	SNP	C	C	A	rs372923818		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:32410681C>A	ENST00000382822.2	-	1	114	c.82G>T	c.(82-84)Ggc>Tgc	p.G28C		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	28						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						CTGCCATAGCCGCAGCCATAG	0.537																																							uc010glt.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(82-84)GGC>TGC		keratin associated protein 19-8							95.0	114.0	108.0					21																	32410681		2203	4300	6503	SO:0001583	missense	728299					intermediate filament		g.chr21:32410681C>A	AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"""Keratin associated proteins"""	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.82G>T	21.37:g.32410681C>A	ENSP00000372272:p.Gly28Cys						p.G28C	NM_001099219	NP_001092689	Q3LI54	KR198_HUMAN			1	115	-			28						Missense_Mutation	SNP	ENST00000382822.2	37	c.82G>T	CCDS42917.1	.	.	.	.	.	.	.	.	.	.	C	7.373	0.627153	0.14257	.	.	ENSG00000206102	ENST00000382822	T	0.16597	2.33	4.32	3.44	0.39384	.	0.000000	0.35378	U	0.003241	T	0.36663	0.0975	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06826	-1.0805	9	0.87932	D	0	.	8.531	0.33335	0.0:0.8925:0.0:0.1075	.	28	Q3LI54	KR198_HUMAN	C	28	ENSP00000372272:G28C	ENSP00000372272:G28C	G	-	1	0	KRTAP19-8	31332552	0.206000	0.23470	0.008000	0.14137	0.010000	0.07245	1.569000	0.36428	1.167000	0.42706	0.511000	0.50034	GGC		0.537	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	NM_001099219		26	146	1	0	3.65163e-15	0.00632	5.84402e-15	26	146				
TIAM1	7074	broad.mit.edu	37	21	32526654	32526654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:32526654G>A	ENST00000286827.3	-	18	3553	c.3082C>T	c.(3082-3084)Cag>Tag	p.Q1028*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.Q968*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1028					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)			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						GTCGCCAGCTGAGGCCCCGTG	0.567																																							uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3082-3084)CAG>TAG		T-cell lymphoma invasion and metastasis 1							109.0	102.0	105.0					21																	32526654		2203	4300	6503	SO:0001587	stop_gained	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.chr21:32526654G>A		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.3082C>T	21.37:g.32526654G>A	ENSP00000286827:p.Gln1028*					TIAM1_uc011adk.1_Nonsense_Mutation_p.Q1028*|TIAM1_uc011adl.1_Nonsense_Mutation_p.Q968*	p.Q1028*	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			18	3554	-			1028					B7ZLR6|F5GZ53|Q17RT7	Nonsense_Mutation	SNP	ENST00000286827.3	37	c.3082C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	46	12.460661	0.99670	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	.	.	.	5.65	5.65	0.86999	.	0.206931	0.45361	D	0.000378	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	15.3988	0.74818	0.0:0.1384:0.8616:0.0	.	.	.	.	X	1028;869;968	.	ENSP00000286827:Q1028X	Q	-	1	0	TIAM1	31448525	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.926000	0.70070	2.941000	0.99782	0.655000	0.94253	CAG		0.567	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		6	83	0	0	0	0.001984	0	6	83				
RIPK4	54101	broad.mit.edu	37	21	43166827	43166827	+	Missense_Mutation	SNP	G	G	T	rs149749209		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:43166827G>T	ENST00000352483.2	-	5	842	c.778C>A	c.(778-780)Cgc>Agc	p.R260S	RIPK4_ENST00000332512.3_Missense_Mutation_p.R260S|RIPK4_ENST00000542057.1_Missense_Mutation_p.R197S|RIPK4_ENST00000544709.1_Missense_Mutation_p.R197S			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCATGAGGCGTATCAGGTGG	0.672																																							uc002yzn.1		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(778-780)CGC>AGC		ankyrin repeat domain 3		G	SER/ARG	1,4403	2.1+/-5.4	0,1,2201	44.0	45.0	45.0		778	0.9	0.6	21	dbSNP_134	45	0,8598		0,0,4299	no	missense	RIPK4	NM_020639.2	110	0,1,6500	TT,TG,GG		0.0,0.0227,0.0077	benign	260/785	43166827	1,13001	2202	4299	6501	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43166827G>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.778C>A	21.37:g.43166827G>T	ENSP00000330161:p.Arg260Ser						p.R260S	NM_020639	NP_065690	P57078	RIPK4_HUMAN			5	826	-			260					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.778C>A		.	.	.	.	.	.	.	.	.	.	G	8.774	0.926680	0.18056	2.27E-4	0.0	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.28	0.889	0.19212	.	0.325981	0.25138	N	0.032849	T	0.35885	0.0947	N	0.17312	0.475	0.09310	N	0.999997	B	0.23249	0.082	B	0.22753	0.041	T	0.13710	-1.0499	10	0.11485	T	0.65	-28.5892	5.44	0.16501	0.084:0.1078:0.6109:0.1974	.	260	P57078-2	.	S	260;260;197;197	ENSP00000332454:R260S;ENSP00000330161:R260S;ENSP00000441754:R197S;ENSP00000442901:R197S	ENSP00000332454:R260S	R	-	1	0	RIPK4	42039896	0.341000	0.24801	0.559000	0.28332	0.671000	0.39405	0.607000	0.24209	0.588000	0.29660	0.561000	0.74099	CGC		0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		4	92	1	0	0.00024832	0.009096	0.000278186	4	92				
ITGB2	3689	broad.mit.edu	37	21	46319066	46319066	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr21:46319066C>T	ENST00000397850.2	-	9	1361	c.909G>A	c.(907-909)tcG>tcA	p.S303S	ITGB2_ENST00000397857.1_Silent_p.S303S|ITGB2_ENST00000302347.5_Silent_p.S303S|ITGB2_ENST00000355153.4_Silent_p.S303S|ITGB2_ENST00000397852.1_Silent_p.S303S|ITGB2_ENST00000397854.3_Silent_p.S246S			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	303	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCTGGCCCACCGATGGGTAGT	0.622																																							uc002zgd.2		NA																	0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(907-909)TCG>TCA		integrin, beta 2 precursor	Simvastatin(DB00641)						121.0	87.0	99.0					21																	46319066		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46319066C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.909G>A	21.37:g.46319066C>T						ITGB2_uc002zge.2_Silent_p.S303S|ITGB2_uc002zgf.3_Silent_p.S303S|ITGB2_uc011afl.1_Silent_p.S225S|ITGB2_uc010gpw.2_Silent_p.S246S|ITGB2_uc002zgg.2_Silent_p.S303S	p.S303S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	7	953	-			303			Extracellular (Potential).|VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.909G>A	CCDS13716.1																																																																																				0.622	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		8	39	0	0	0	0.004482	0	8	39				
OR11H1	81061	broad.mit.edu	37	22	16449068	16449068	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:16449068C>A	ENST00000252835.4	-	1	737	c.737G>T	c.(736-738)aGc>aTc	p.S246I		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TCTCCCAGTGCTTGAAGGCAT	0.428																																							uc011agd.1		NA																	0					0						c.(736-738)AGC>ATC		olfactory receptor, family 11, subfamily H,							168.0	163.0	165.0					22																	16449068		2201	4298	6499	SO:0001583	missense	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449068C>A	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.737G>T	22.37:g.16449068C>A	ENSP00000252835:p.Ser246Ile						p.S246I	NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	737	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	246			Cytoplasmic (Potential).		Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	c.737G>T	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	c	2.742	-0.261930	0.05791	.	.	ENSG00000130538	ENST00000252835	T	0.00145	8.67	1.73	0.47	0.16747	GPCR, rhodopsin-like superfamily (1);	0.575743	0.13881	N	0.356352	T	0.00178	0.0005	M	0.69523	2.12	0.09310	N	1	B	0.21071	0.051	B	0.24155	0.051	T	0.39035	-0.9633	10	0.87932	D	0	.	4.2522	0.10700	0.0:0.2978:0.473:0.2291	.	246	Q8NG94	O11H1_HUMAN	I	246	ENSP00000252835:S246I	ENSP00000252835:S246I	S	-	2	0	OR11H1	14829068	0.000000	0.05858	0.955000	0.39395	0.326000	0.28443	-0.367000	0.07553	-0.039000	0.13602	0.368000	0.22195	AGC		0.428	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		36	128	1	0	1.15181e-12	0.01441	1.73609e-12	36	128				
CECR5	27440	broad.mit.edu	37	22	17619447	17619447	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:17619447C>A	ENST00000336737.4	-	7	953	c.928G>T	c.(928-930)Gct>Tct	p.A310S	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.A280S	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	310						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TACCCCACAGCATAGAGCTTC	0.577																																							uc002zmf.2		NA																	0					0						c.(928-930)GCT>TCT		cat eye syndrome chromosome region, candidate 5							94.0	101.0	98.0					22																	17619447		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619447C>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.928G>T	22.37:g.17619447C>A	ENSP00000337358:p.Ala310Ser					CECR5_uc002zmd.2_Missense_Mutation_p.A121S|CECR5_uc002zme.2_Missense_Mutation_p.A102S|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.A280S	p.A310S	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			7	956	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	310					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.928G>T	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123391	0.77436	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.31510	1.49;1.49	4.43	2.29	0.28610	HAD-like domain (2);	0.102504	0.64402	D	0.000002	T	0.54351	0.1853	M	0.88310	2.945	0.80722	D	1	D;D;D	0.71674	0.97;0.997;0.998	P;P;D	0.68192	0.844;0.87;0.956	T	0.54754	-0.8246	10	0.32370	T	0.25	-4.4799	9.4224	0.38559	0.0:0.7756:0.1451:0.0793	.	280;310;174	Q9BXW7-2;Q9BXW7;B3KVW8	.;CECR5_HUMAN;.	S	280;310	ENSP00000155674:A280S;ENSP00000337358:A310S	ENSP00000155674:A280S	A	-	1	0	CECR5	15999447	1.000000	0.71417	0.066000	0.19879	0.911000	0.54048	7.068000	0.76748	0.579000	0.29504	0.549000	0.68633	GCT		0.577	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		24	130	1	0	1.1804e-14	0.003954	1.86746e-14	24	130				
CCDC116	164592	broad.mit.edu	37	22	21991000	21991000	+	Missense_Mutation	SNP	C	C	T	rs202055808		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:21991000C>T	ENST00000292779.3	+	5	1644	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	495										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGAGACCCACCGGAGCTGCCT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17618	0.0		0.001	False		,,,				2504	0.0						uc002zve.2		NA																	0				ovary(1)|skin(1)	2						c.(1483-1485)CGG>TGG		coiled-coil domain containing 116							56.0	58.0	57.0					22																	21991000		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21991000C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1483C>T	22.37:g.21991000C>T	ENSP00000292779:p.Arg495Trp						p.R495W	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			5	1576	+	Colorectal(54;0.105)		495					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.1483C>T	CCDS13791.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.47	1.946673	0.34377	.	.	ENSG00000161180	ENST00000292779	T	0.08634	3.07	4.7	3.66	0.41972	.	0.531595	0.16200	N	0.224974	T	0.02533	0.0077	N	0.01576	-0.805	0.26888	N	0.967395	B	0.02656	0.0	B	0.01281	0.0	T	0.44832	-0.9302	10	0.11182	T	0.66	.	6.3913	0.21589	0.0:0.1145:0.0:0.8855	.	495	Q8IYX3-2	.	W	495	ENSP00000292779:R495W	ENSP00000292779:R495W	R	+	1	2	CCDC116	20321000	1.000000	0.71417	0.540000	0.28089	0.002000	0.02628	2.280000	0.43443	0.840000	0.34995	-0.350000	0.07774	CGG		0.622	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		17	68	0	0	0	0.014323	0	17	68				
SMARCB1	6598	broad.mit.edu	37	22	24145550	24145550	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:24145550G>T	ENST00000263121.7	+	5	765	c.569G>T	c.(568-570)cGg>cTg	p.R190L	SMARCB1_ENST00000407422.3_Missense_Mutation_p.R181L|SMARCB1_ENST00000344921.6_Missense_Mutation_p.R199L|SMARCB1_ENST00000407082.3_Missense_Mutation_p.R144L	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	190	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(7)|p.V185_M193del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GTCCCCATCCGGCTGGACATG	0.582			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																	uc002zyb.2		NA	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	D|N|F|S	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid 		8	Unknown(4)|Deletion - Frameshift(3)|Deletion - In frame(1)	p.?(6)|p.V185_M193del(1)	soft_tissue(5)|central_nervous_system(3)	soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407						c.(568-570)CGG>CTG		SWI/SNF related, matrix associated, actin							111.0	100.0	103.0					22																	24145550		2203	4300	6503	SO:0001583	missense	6598	Rhabdoid_Predisposition_syndrome|Schwannomatosis			cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24145550G>T	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.569G>T	22.37:g.24145550G>T	ENSP00000263121:p.Arg190Leu					SMARCB1_uc002zya.2_Missense_Mutation_p.R190L|SMARCB1_uc002zyc.2_Missense_Mutation_p.R181L|SMARCB1_uc002zyd.2_Missense_Mutation_p.R199L|SMARCB1_uc002zye.1_Missense_Mutation_p.R116L|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_RNA	p.R190L	NM_003073	NP_003064	Q12824	SNF5_HUMAN			5	776	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	190			HIV-1 integrase-binding.|1.|2 X approximate tandem repeats.|MYC-binding.		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.569G>T	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392681	0.96009	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	H	0.96142	3.775	0.80722	D	1	P;P;D;B	0.65815	0.756;0.95;0.995;0.423	P;P;D;B	0.74348	0.542;0.872;0.983;0.219	D	0.95822	0.8850	10	0.87932	D	0	-25.9714	17.5295	0.87810	0.0:0.0:1.0:0.0	.	199;181;190;208	G5E975;Q17S11;Q12824;C9JTA6	.;.;SNF5_HUMAN;.	L	208;199;190;181;144	ENSP00000388489:R208L;ENSP00000340883:R199L;ENSP00000263121:R190L;ENSP00000383984:R181L;ENSP00000385226:R144L	ENSP00000263121:R190L	R	+	2	0	SMARCB1	22475550	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	9.822000	0.99363	2.472000	0.83506	0.644000	0.83932	CGG		0.582	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		22	89	1	0	9.62636e-23	0.014323	1.68005e-22	22	89				
MYO18B	84700	broad.mit.edu	37	22	26423231	26423231	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:26423231C>A	ENST00000407587.2	+	43	7463	c.7294C>A	c.(7294-7296)Ctc>Atc	p.L2432I	MYO18B_ENST00000536101.1_Missense_Mutation_p.L2431I|MYO18B_ENST00000335473.7_Missense_Mutation_p.L2431I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2431						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACTCCCAAGCCTCGACTACGA	0.557																																							uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(7291-7293)CTC>ATC		myosin XVIIIB							113.0	115.0	114.0					22																	26423231		2000	4168	6168	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423231C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7294C>A	22.37:g.26423231C>A	ENSP00000386096:p.Leu2432Ile					MYO18B_uc003aca.1_Missense_Mutation_p.L2312I|MYO18B_uc010guy.1_Missense_Mutation_p.L2313I|MYO18B_uc010guz.1_Missense_Mutation_p.L2311I|MYO18B_uc011aka.1_Missense_Mutation_p.L1585I|MYO18B_uc011akb.1_Missense_Mutation_p.L1944I|MYO18B_uc010gva.1_Missense_Mutation_p.L414I|MYO18B_uc010gvb.1_RNA	p.L2431I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7541	+			2431					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7291C>A		.	.	.	.	.	.	.	.	.	.	C	11.02	1.515480	0.27123	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.92858	-3.1;-3.1;-3.12	4.26	2.11	0.27256	.	0.000000	0.46442	D	0.000284	D	0.93815	0.8022	M	0.62723	1.935	0.09310	N	1	B;D;D;B;D	0.76494	0.077;0.999;0.999;0.129;0.999	B;D;D;B;D	0.80764	0.031;0.987;0.987;0.067;0.994	D	0.86515	0.1812	10	0.87932	D	0	.	8.1962	0.31398	0.1566:0.7567:0.0:0.0867	.	1944;2433;2431;2432;2431	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	I	2431;2431;2432	ENSP00000441229:L2431I;ENSP00000334563:L2431I;ENSP00000386096:L2432I	ENSP00000334563:L2431I	L	+	1	0	MYO18B	24753231	0.998000	0.40836	0.010000	0.14722	0.012000	0.07955	2.746000	0.47467	0.505000	0.28104	0.561000	0.74099	CTC		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		24	103	1	0	9.86323e-18	0.003954	1.6386e-17	24	103				
TFIP11	24144	broad.mit.edu	37	22	26899709	26899709	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:26899709C>T	ENST00000407690.1	-	7	854	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	TFIP11_ENST00000405938.1_Missense_Mutation_p.G191R|TFIP11_ENST00000407431.1_Missense_Mutation_p.G191R|TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.G191R	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	191	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCATAAGCCCCCACAGCACCT	0.468																																							uc003acr.2		NA																	0					0						c.(571-573)GGG>AGG		tuftelin interacting protein 11							146.0	132.0	137.0					22																	26899709		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26899709C>T	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.571G>A	22.37:g.26899709C>T	ENSP00000384421:p.Gly191Arg					TFIP11_uc003acs.2_Missense_Mutation_p.G191R|TFIP11_uc003act.2_Missense_Mutation_p.G191R	p.G191R	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			6	945	-			191			G-patch.		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.571G>A	CCDS13838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.27|17.27	3.346652|3.346652	0.61073|0.61073	.|.	.|.	ENSG00000100109|ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938|ENST00000450493	T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5|.	5.92|5.92	4.88|4.88	0.63580|0.63580	D111/G-patch (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85767|.	0.5773|.	M|M	0.93678|0.93678	3.445|3.445	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.89944|.	0.4075|.	10|.	0.66056|.	D|.	0.02|.	-45.5352|-45.5352	16.01|16.01	0.80396|0.80396	0.0:0.8654:0.1346:0.0|0.0:0.8654:0.1346:0.0	.|.	191|.	Q9UBB9|.	TFP11_HUMAN|.	R|X	191|27	ENSP00000384421:G191R;ENSP00000383892:G191R;ENSP00000385861:G191R;ENSP00000384297:G191R|.	ENSP00000384297:G191R|.	G|W	-|-	1|3	0|0	TFIP11|TFIP11	25229709|25229709	1.000000|1.000000	0.71417|0.71417	0.298000|0.298000	0.25002|0.25002	0.022000|0.022000	0.10575|0.10575	7.501000|7.501000	0.81600|0.81600	1.468000|1.468000	0.48064|0.48064	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.468	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		9	49	0	0	0	0.006214	0	9	49				
CCDC157	550631	broad.mit.edu	37	22	30762169	30762169	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:30762169C>T	ENST00000405659.1	+	3	889	c.180C>T	c.(178-180)gaC>gaT	p.D60D	CCDC157_ENST00000399824.2_Silent_p.D60D|CCDC157_ENST00000338306.3_Silent_p.D60D			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	60										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AGCACTATGACCATGTTCCGG	0.637																																							uc011aku.1		NA																	0				central_nervous_system(1)	1						c.(178-180)GAC>GAT		coiled-coil domain containing 157							167.0	141.0	150.0					22																	30762169		2203	4300	6503	SO:0001819	synonymous_variant	550631							g.chr22:30762169C>T	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.180C>T	22.37:g.30762169C>T						CCDC157_uc011akv.1_Silent_p.D60D	p.D60D	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN			3	840	+			60					Q0VD76|Q9BYA4	Silent	SNP	ENST00000405659.1	37	c.180C>T	CCDS33632.2																																																																																				0.637	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		26	180	0	0	0	0.00632	0	26	180				
SEC14L3	266629	broad.mit.edu	37	22	30863060	30863060	+	Missense_Mutation	SNP	C	C	A	rs558774611		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:30863060C>A	ENST00000215812.4	-	6	518	c.428G>T	c.(427-429)gGg>gTg	p.G143V	SEC14L3_ENST00000402286.1_Missense_Mutation_p.G66V|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G84V|SEC14L3_ENST00000403066.1_Missense_Mutation_p.G84V|SEC14L3_ENST00000539629.1_Missense_Mutation_p.G84V|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G84V|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G66V	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	143	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AATCTTCTTCCCTAGCTGCAA	0.488																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(427-429)GGG>GTG		SEC14-like 3	Vitamin E(DB00163)						147.0	128.0	134.0					22																	30863060		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30863060C>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.428G>T	22.37:g.30863060C>A	ENSP00000215812:p.Gly143Val					SEC14L3_uc003ahz.2_Missense_Mutation_p.G66V|SEC14L3_uc003aia.2_Missense_Mutation_p.G84V|SEC14L3_uc003aib.2_Missense_Mutation_p.G84V	p.G143V	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			6	517	-			143			CRAL-TRIO.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.428G>T	CCDS13877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.679613|3.679613	0.68042|0.68042	.|.	.|.	ENSG00000100012|ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910|ENST00000435069	T;T;T;T;T;T;T|.	0.61510|.	0.1;0.1;0.1;1.54;0.1;0.1;1.54|.	4.63|4.63	4.63|4.63	0.57726|0.57726	Cellular retinaldehyde-binding/triple function, C-terminal (5);|.	0.185057|0.185057	0.46442|0.46442	D|D	0.000300|0.000300	D|.	0.86255|.	0.5889|.	M|M	0.93939|0.93939	3.475|3.475	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.997|.	D|.	0.90515|.	0.4484|.	10|.	0.87932|0.87932	D|D	0|0	-26.7874|-26.7874	17.0827|17.0827	0.86603|0.86603	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	66;143|.	E9PE57;Q9UDX4|.	.;S14L3_HUMAN|.	V|X	84;84;143;66;84;84;66|109	ENSP00000385941:G84V;ENSP00000401864:G84V;ENSP00000215812:G143V;ENSP00000385004:G66V;ENSP00000383896:G84V;ENSP00000444691:G84V;ENSP00000439752:G66V|.	ENSP00000215812:G143V|ENSP00000402986:G109X	G|G	-|-	2|1	0|0	SEC14L3|SEC14L3	29193060|29193060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.826000|0.826000	0.46750|0.46750	5.641000|5.641000	0.67881|0.67881	2.117000|2.117000	0.64856|0.64856	0.557000|0.557000	0.71058|0.71058	GGG|GGA		0.488	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		30	109	1	0	8.4185e-14	0.012213	1.29479e-13	30	109				
SMTN	6525	broad.mit.edu	37	22	31491288	31491288	+	Splice_Site	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:31491288G>C	ENST00000347557.2	+	12	1850		c.e12-1		SMTN_ENST00000333137.7_Splice_Site|SMTN_ENST00000358743.1_Splice_Site|SMTN_ENST00000404574.1_Splice_Site	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCACCCTGCAGATGGAAGCAG	0.592																																							uc003ajl.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.e12-1		smoothelin isoform c							39.0	39.0	39.0					22																	31491288		2203	4300	6503	SO:0001630	splice_region_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31491288G>C	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1633-1G>C	22.37:g.31491288G>C						SMTN_uc003ajk.1_Splice_Site_p.M545_splice|SMTN_uc003ajm.1_Splice_Site_p.M545_splice|SMTN_uc011ale.1_Splice_Site_p.M630_splice|SMTN_uc011alf.1_Splice_Site_p.M601_splice|SMTN_uc003ajn.1_Splice_Site_p.M568_splice|SMTN_uc011alg.1_Splice_Site_p.M1_splice|SMTN_uc003ajo.1_Splice_Site_p.M144_splice|SMTN_uc011alh.1_Splice_Site|SMTN_uc010gwe.1_Splice_Site_p.M1_splice	p.M545_splice	NM_006932	NP_008863	P53814	SMTN_HUMAN			12	1851	+								O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Splice_Site	SNP	ENST00000347557.2	37	c.1633_splice	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753972	0.69648	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0343	0.89294	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMTN	29821288	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	6.823000	0.75282	2.686000	0.91538	0.561000	0.74099	.		0.592	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270	Intron	3	47	0	0	0	0.000602	0	3	47				
PICK1	9463	broad.mit.edu	37	22	38465057	38465057	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:38465057C>T	ENST00000404072.3	+	6	714	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	PICK1_ENST00000356976.3_Missense_Mutation_p.H123Y|RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000468288.1_3'UTR	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	123					ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GAAAGTCAAGCACCGGCTGGT	0.627																																							uc003auq.2		NA																	0					0						c.(367-369)CAC>TAC		protein interacting with C kinase 1							54.0	45.0	48.0					22																	38465057		2203	4300	6503	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38465057C>T	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.367C>T	22.37:g.38465057C>T	ENSP00000385205:p.His123Tyr					PICK1_uc003aur.2_Missense_Mutation_p.H123Y|PICK1_uc003aus.2_Missense_Mutation_p.H123Y|PICK1_uc003aut.2_Missense_Mutation_p.H123Y	p.H123Y	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN			6	757	+	Melanoma(58;0.045)		123					B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.367C>T	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664531	0.88251	.	.	ENSG00000100151	ENST00000404072;ENST00000424694;ENST00000356976;ENST00000435166	T;T;T;T	0.71579	-0.58;-0.58;-0.58;1.37	4.86	4.86	0.63082	Arfaptin-like (1);	0.000000	0.85682	D	0.000000	T	0.80396	0.4615	M	0.85299	2.745	0.80722	D	1	P	0.40266	0.71	P	0.45971	0.499	D	0.84533	0.0634	10	0.87932	D	0	-32.3972	18.3685	0.90399	0.0:1.0:0.0:0.0	.	123	Q9NRD5	PICK1_HUMAN	Y	123	ENSP00000385205:H123Y;ENSP00000398141:H123Y;ENSP00000349465:H123Y;ENSP00000397588:H123Y	ENSP00000349465:H123Y	H	+	1	0	PICK1	36795003	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.606000	0.82863	2.404000	0.81709	0.561000	0.74099	CAC		0.627	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		4	22	0	0	0	0.000602	0	4	22				
TCF20	6942	broad.mit.edu	37	22	42605808	42605808	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:42605808C>A	ENST00000359486.3	-	1	5640	c.5504G>T	c.(5503-5505)gGc>gTc	p.G1835V	TCF20_ENST00000404876.1_Missense_Mutation_p.G136V|TCF20_ENST00000335626.4_Missense_Mutation_p.G1835V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1835					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGCTCAGGGCCACCTTCTGA	0.517																																							uc003bcj.1		NA																	0				ovary(4)|skin(1)	5						c.(5503-5505)GGC>GTC		transcription factor 20 isoform 1							131.0	134.0	133.0					22																	42605808		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605808C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5504G>T	22.37:g.42605808C>A	ENSP00000352463:p.Gly1835Val					TCF20_uc003bck.1_Missense_Mutation_p.G1835V|TCF20_uc003bnt.2_Missense_Mutation_p.G1835V	p.G1835V	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	5638	-			1835					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5504G>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680291	0.68042	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.69175	0.22;0.22;-0.38	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81211	0.4775	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80848	-0.1199	10	0.87932	D	0	-17.7289	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1835;1835	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	V	1835;1835;136	ENSP00000352463:G1835V;ENSP00000335561:G1835V;ENSP00000385531:G136V	ENSP00000335561:G1835V	G	-	2	0	TCF20	40935752	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.637000	0.61346	2.884000	0.98904	0.655000	0.94253	GGC		0.517	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		46	135	1	0	4.53422e-39	0.01441	8.26124e-39	46	135				
SCUBE1	80274	broad.mit.edu	37	22	43735195	43735195	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:43735195G>A	ENST00000360835.4	-	2	261	c.135C>T	c.(133-135)caC>caT	p.H45H	SCUBE1_ENST00000290460.7_Silent_p.H45H	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	45	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGCATCGATGTGGCAGTCAT	0.592																																							uc003bdt.1		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(133-135)CAC>CAT		signal peptide, CUB domain, EGF-like 1							168.0	115.0	133.0					22																	43735195		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43735195G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.135C>T	22.37:g.43735195G>A						SCUBE1_uc003bdu.1_Silent_p.H45H	p.H45H	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			2	223	-		all_neural(38;0.0414)|Ovarian(80;0.07)	45			EGF-like 1; calcium-binding (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.135C>T	CCDS14048.1																																																																																				0.592	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		8	70	0	0	0	0.00308	0	8	70				
WNT7B	7477	broad.mit.edu	37	22	46345813	46345813	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:46345813T>A	ENST00000339464.4	-	2	659	c.285A>T	c.(283-285)caA>caT	p.Q95H	WNT7B_ENST00000410089.1_Missense_Mutation_p.Q79H|WNT7B_ENST00000409496.3_Missense_Mutation_p.Q99H|WNT7B_ENST00000410058.1_Missense_Mutation_p.Q95H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	95					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGGAGCTCTTGCCCGAAGA	0.662																																							uc003bgo.2		NA																	0				lung(1)	1						c.(283-285)CAA>CAT		wingless-type MMTV integration site family,							33.0	30.0	31.0					22																	46345813		2203	4300	6503	SO:0001583	missense	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46345813T>A	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.285A>T	22.37:g.46345813T>A	ENSP00000341032:p.Gln95His					WNT7B_uc010haa.2_Missense_Mutation_p.Q99H	p.Q95H	NM_058238	NP_478679	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	2	659	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	95					B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	c.285A>T	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434717	0.25813	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	3.81	0.104	0.14531	.	0.073003	0.56097	U	0.000021	T	0.46190	0.1380	N	0.04260	-0.245	0.54753	D	0.999983	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.006	T	0.06023	-1.0850	10	0.26408	T	0.33	.	7.2624	0.26212	0.0:0.3242:0.0:0.6758	.	99;95	A8K0G1;P56706	.;WNT7B_HUMAN	H	95;79;99;95;28	ENSP00000341032:Q95H;ENSP00000386781:Q79H;ENSP00000386546:Q99H;ENSP00000387217:Q95H;ENSP00000392750:Q28H	ENSP00000341032:Q95H	Q	-	3	2	WNT7B	44724477	0.968000	0.33430	0.998000	0.56505	0.959000	0.62525	0.081000	0.14823	-0.193000	0.10415	0.454000	0.30748	CAA		0.662	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		9	38	0	0	0	0.006214	0	9	38				
PLXNB2	23654	broad.mit.edu	37	22	50716158	50716158	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:50716158G>A	ENST00000449103.1	-	33	5198	c.5058C>T	c.(5056-5058)ctC>ctT	p.L1686L	PLXNB2_ENST00000359337.4_Silent_p.L1686L			O15031	PLXB2_HUMAN	plexin B2	1686					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGAACCGGAGCGGTAAGC	0.647																																							uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(5056-5058)CTC>CTT		plexin B2 precursor							55.0	63.0	61.0					22																	50716158		2108	4244	6352	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716158G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5058C>T	22.37:g.50716158G>A						PLXNB2_uc003bkt.1_Silent_p.L478L|PLXNB2_uc003bku.1_Silent_p.L671L	p.L1686L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	33	5164	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1686			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.5058C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	1.600	-0.526818	0.04141	.	.	ENSG00000196576	ENST00000399991	.	.	.	4.21	-2.27	0.06846	.	.	.	.	.	T	0.53400	0.1794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55003	-0.8208	5	0.87932	D	0	.	1.8943	0.03254	0.2938:0.3908:0.1835:0.1319	.	.	.	.	F	157	.	ENSP00000382873:S157F	S	-	2	0	PLXNB2	49058285	0.169000	0.23002	0.211000	0.23655	0.309000	0.27889	-0.372000	0.07504	-0.528000	0.06366	-1.431000	0.01090	TCC		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		8	129	0	0	0	0.00308	0	8	129				
CHL1	10752	broad.mit.edu	37	3	439977	439977	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:439977G>T	ENST00000256509.2	+	25	3804	c.3162G>T	c.(3160-3162)gaG>gaT	p.E1054D	CHL1_ENST00000397491.2_Missense_Mutation_p.E1038D	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGGTATTTGAGCCGGGAGCTG	0.378																																							uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(3112-3114)GAG>GAT		cell adhesion molecule with homology to L1CAM							71.0	70.0	70.0					3																	439977		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:439977G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3162G>T	3.37:g.439977G>T	ENSP00000256509:p.Glu1054Asp					CHL1_uc003bot.2_Missense_Mutation_p.E1054D|CHL1_uc003bow.1_Missense_Mutation_p.E1038D|CHL1_uc011asi.1_Intron	p.E1038D	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	24	3385	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1038			Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3114G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480298	0.26598	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.60171	0.21;0.23	5.72	2.77	0.32553	.	0.297364	0.37053	N	0.002271	T	0.38931	0.1059	L	0.27053	0.805	0.35605	D	0.808182	B;B	0.11235	0.001;0.004	B;B	0.13407	0.004;0.009	T	0.37753	-0.9692	10	0.20046	T	0.44	.	8.7571	0.34652	0.1505:0.1372:0.7123:0.0	.	1038;1054	O00533;O00533-2	CHL1_HUMAN;.	D	1054;1038	ENSP00000256509:E1054D;ENSP00000380628:E1038D	ENSP00000256509:E1054D	E	+	3	2	CHL1	414977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.960000	0.29253	1.405000	0.46838	0.650000	0.86243	GAG		0.378	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		12	38	1	0	2.27111e-07	0.013537	2.85698e-07	12	38				
SRGAP3	9901	broad.mit.edu	37	3	9034648	9034648	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:9034648C>T	ENST00000383836.3	-	20	2927	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N	SRGAP3_ENST00000360413.3_Missense_Mutation_p.D810N	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	834					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GACTGGAGGTCGTTTTTGGAA	0.582			T	RAF1	pilocytic astrocytoma																																		uc003brf.1		NA		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(2500-2502)GAC>AAC		SLIT-ROBO Rho GTPase activating protein 3							84.0	73.0	76.0					3																	9034648		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034648C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2500G>A	3.37:g.9034648C>T	ENSP00000373347:p.Asp834Asn					SRGAP3_uc003brg.1_Missense_Mutation_p.D810N	p.D834N	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	3176	-			834					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2500G>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699175	0.88830	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.25912	1.77;2.17	5.41	5.41	0.78517	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.959	T	0.09228	-1.0684	10	0.30854	T	0.27	.	18.7906	0.91973	0.0:1.0:0.0:0.0	.	810;834	O43295-2;O43295	.;SRGP2_HUMAN	N	834;810	ENSP00000373347:D834N;ENSP00000353587:D810N	ENSP00000353587:D810N	D	-	1	0	SRGAP3	9009648	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	5.859000	0.69539	2.526000	0.85167	0.591000	0.81541	GAC		0.582	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			3	49	0	0	0	0.004672	0	3	49				
RAF1	5894	broad.mit.edu	37	3	12645693	12645693	+	Missense_Mutation	SNP	G	G	A	rs397516827		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:12645693G>A	ENST00000251849.4	-	7	1215	c.776C>T	c.(775-777)tCc>tTc	p.S259F	RAF1_ENST00000534997.1_Missense_Mutation_p.S44F|RAF1_ENST00000442415.2_Missense_Mutation_p.S259F|RAF1_ENST00000542177.1_Missense_Mutation_p.S178F	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	259			S -> A (in an ovarian serous carcinoma sample; somatic mutation; increased ERK activation). {ECO:0000269|PubMed:17344846}.|S -> F (in NS5). {ECO:0000269|PubMed:17603483}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATTAGGTGTGGATGTCGACCT	0.517			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																														uc003bxf.3		NA		Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|SRGAP3/RAF1(4)	0		p.S259A(1)		central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14	GRCh37	CM073300	RAF1	M		c.(775-777)TCC>TTC		v-raf-1 murine leukemia viral oncogene homolog	Sorafenib(DB00398)						155.0	138.0	144.0					3																	12645693		2203	4300	6503	SO:0001583	missense	5894	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12645693G>A	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.776C>T	3.37:g.12645693G>A	ENSP00000251849:p.Ser259Phe					RAF1_uc011aut.1_Missense_Mutation_p.S44F|RAF1_uc011auu.1_Missense_Mutation_p.S177F	p.S259F	NM_002880	NP_002871	P04049	RAF1_HUMAN			7	1191	-			259	S->A: Increased ERK activation.	S -> A (in an ovarian serous carcinoma sample; somatic mutation).|S -> F (in NS5).			B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.776C>T	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151647	0.78001	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	T;T;T;T;T	0.78003	-1.13;-1.14;-1.08;-0.99;-1.11	5.73	5.73	0.89815	.	0.094049	0.85682	D	0.000000	D	0.89174	0.6640	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74023	0.982;0.977;0.95	D	0.89494	0.3759	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	178;44;259	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	F	259;259;138;44;178	ENSP00000251849:S259F;ENSP00000401888:S259F;ENSP00000398591:S138F;ENSP00000441186:S44F;ENSP00000443567:S178F	ENSP00000251849:S259F	S	-	2	0	RAF1	12620693	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	TCC		0.517	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		6	76	0	0	0	0.001984	0	6	76				
NUP210	23225	broad.mit.edu	37	3	13438872	13438872	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:13438872C>A	ENST00000254508.5	-	3	503	c.421G>T	c.(421-423)Gcc>Tcc	p.A141S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	141					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GAGTCCAGGGCCTGGATCTTC	0.597																																							uc003bxv.1		NA																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(421-423)GCC>TCC		nucleoporin 210 precursor							66.0	61.0	63.0					3																	13438872		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13438872C>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.421G>T	3.37:g.13438872C>A	ENSP00000254508:p.Ala141Ser						p.A141S	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			3	504	-	all_neural(104;0.187)		141			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.421G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131612	0.77662	.	.	ENSG00000132182	ENST00000254508	T	0.32515	1.45	3.96	3.96	0.45880	.	0.054063	0.64402	N	0.000001	T	0.53351	0.1791	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59107	-0.7516	10	0.72032	D	0.01	-30.4073	15.3799	0.74648	0.0:1.0:0.0:0.0	.	141	Q8TEM1	PO210_HUMAN	S	141	ENSP00000254508:A141S	ENSP00000254508:A141S	A	-	1	0	NUP210	13413872	1.000000	0.71417	0.988000	0.46212	0.591000	0.36615	7.057000	0.76669	2.232000	0.73038	0.555000	0.69702	GCC		0.597	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		8	33	1	0	3.09899e-07	0.004482	3.88075e-07	8	33				
C3orf20	84077	broad.mit.edu	37	3	14798905	14798905	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:14798905C>A	ENST00000253697.3	+	13	2420	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	C3orf20_ENST00000412910.1_Silent_p.P534P|C3orf20_ENST00000435614.1_Silent_p.P534P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	656						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGCGCAGCCCCACCAGGTGGG	0.672																																							uc003byy.2		NA																	0				ovary(3)|skin(1)	4						c.(1966-1968)CCC>CCA		hypothetical protein LOC84077							27.0	28.0	27.0					3																	14798905		2203	4300	6503	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14798905C>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1968C>A	3.37:g.14798905C>A						C3orf20_uc003byz.2_Silent_p.P534P|C3orf20_uc003bza.2_Silent_p.P534P|C3orf20_uc003bzb.1_Silent_p.P157P|C3orf20_uc011avj.1_5'UTR	p.P656P	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			13	2372	+			656					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.1968C>A	CCDS33706.1																																																																																				0.672	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		5	18	1	0	1.23904e-05	0.000602	1.45697e-05	5	18				
ARPP21	10777	broad.mit.edu	37	3	35835217	35835217	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:35835217G>A	ENST00000187397.4	+	20	2662	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	ARPP21_ENST00000337271.5_Missense_Mutation_p.G717R|ARPP21_ENST00000458225.1_Missense_Mutation_p.G737R|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000417925.1_Missense_Mutation_p.G737R|ARPP21_ENST00000444190.1_Missense_Mutation_p.G717R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	736	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGGTTCTCAAGGACTGCCCCA	0.473																																							uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(2206-2208)GGA>AGA		cyclic AMP-regulated phosphoprotein, 21 kD							84.0	84.0	84.0					3																	35835217		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35835217G>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2206G>A	3.37:g.35835217G>A	ENSP00000187397:p.Gly736Arg					ARPP21_uc003cga.2_Missense_Mutation_p.G717R|ARPP21_uc011axy.1_Missense_Mutation_p.G737R|ARPP21_uc003cgf.2_Missense_Mutation_p.G572R|ARPP21_uc003cgg.2_Missense_Mutation_p.G259R	p.G736R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			20	2470	+			736			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2206G>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916065	0.73098	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.25749	1.85;1.78;1.78;1.88;1.85	6.03	6.03	0.97812	.	0.086125	0.50627	D	0.000109	T	0.47414	0.1444	M	0.63843	1.955	0.31505	N	0.664366	P;D;D;P	0.69078	0.642;0.997;0.964;0.687	P;D;P;P	0.67103	0.518;0.949;0.754;0.503	T	0.52465	-0.8572	10	0.52906	T	0.07	-10.528	15.3018	0.73958	0.0:0.0:0.8601:0.1399	.	737;259;736;717	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	R	737;717;717;736;737	ENSP00000414351:G737R;ENSP00000337792:G717R;ENSP00000405276:G717R;ENSP00000187397:G736R;ENSP00000412326:G737R	ENSP00000187397:G736R	G	+	1	0	ARPP21	35810221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.974000	0.70465	2.854000	0.98071	0.655000	0.94253	GGA		0.473	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		6	57	0	0	0	0.001168	0	6	57				
SLC22A14	9389	broad.mit.edu	37	3	38348825	38348825	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:38348825C>T	ENST00000273173.4	+	2	688	c.597C>T	c.(595-597)ctC>ctT	p.L199L	SLC22A14_ENST00000448498.1_Silent_p.L199L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	199					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TAGGCTCTCTCATCTTCAGGC	0.542																																							uc010hhc.1		NA																	0					0						c.(595-597)CTC>CTT		organic cation transporter like 4							124.0	115.0	118.0					3																	38348825		2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38348825C>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.597C>T	3.37:g.38348825C>T						SLC22A14_uc003cia.2_Silent_p.L199L|SLC22A14_uc003cib.2_Silent_p.L199L|SLC22A14_uc011ayo.1_RNA	p.L199L	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	3	639	+			199			Helical; (Potential).		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.597C>T	CCDS2677.1																																																																																				0.542	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		13	99	0	0	0	0.004007	0	13	99				
SCN5A	6331	broad.mit.edu	37	3	38639443	38639443	+	Missense_Mutation	SNP	C	C	T	rs199473142		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:38639443C>T	ENST00000333535.4	-	14	2188	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	SCN5A_ENST00000413689.1_Missense_Mutation_p.R680H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R680H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R680H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R680H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R680H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R680H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R680H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R680H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R680H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	680			R -> H (in LQT3).		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ACACTTGTGGCGAGACTCCTC	0.507																																							uc003cio.2		NA																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	GRCh37	CM070260	SCN5A	M		c.(2038-2040)CGC>CAC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						97.0	102.0	101.0					3																	38639443		2121	4227	6348	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639443C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2039G>A	3.37:g.38639443C>T	ENSP00000328968:p.Arg680His					SCN5A_uc003cin.2_Missense_Mutation_p.R680H|SCN5A_uc003cil.3_Missense_Mutation_p.R680H|SCN5A_uc010hhi.2_Missense_Mutation_p.R680H|SCN5A_uc010hhk.2_Missense_Mutation_p.R680H|SCN5A_uc011ayr.1_Missense_Mutation_p.R680H|SCN5A_uc010hhj.1_Missense_Mutation_p.R291H	p.R680H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2233	-	Medulloblastoma(35;0.163)		680		R -> H (in LQT3).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2039G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	7.229	0.598907	0.13939	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96136	-3.83;-3.86;-3.86;-3.88;-3.86;-3.83;-3.86;-3.92;-3.88;-3.88	4.69	2.02	0.26589	.	0.343393	0.28140	N	0.016456	D	0.88187	0.6369	N	0.12961	0.28	0.28037	N	0.933898	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.001;0.001	B;B;B;B;B;B;B	0.06405	0.0;0.0;0.002;0.001;0.0;0.002;0.002	T	0.79836	-0.1635	10	0.48119	T	0.1	.	7.7527	0.28907	0.0:0.243:0.0:0.757	.	680;680;680;680;680;680;680	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	H	680	ENSP00000398962:R680H;ENSP00000398266:R680H;ENSP00000410257:R680H;ENSP00000388797:R680H;ENSP00000397915:R680H;ENSP00000416634:R680H;ENSP00000328968:R680H;ENSP00000399524:R680H;ENSP00000403355:R680H;ENSP00000413996:R680H	ENSP00000328968:R680H	R	-	2	0	SCN5A	38614447	1.000000	0.71417	0.991000	0.47740	0.369000	0.29798	1.197000	0.32211	0.285000	0.22329	-0.658000	0.03865	CGC		0.507	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		13	77	0	0	0	0.00245	0	13	77				
SCN10A	6336	broad.mit.edu	37	3	38770075	38770075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:38770075G>T	ENST00000449082.2	-	15	2597	c.2598C>A	c.(2596-2598)tgC>tgA	p.C866*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	866					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AAAGGATGAGGCATATGGATT	0.527																																							uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2596-2598)TGC>TGA		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						94.0	84.0	88.0					3																	38770075		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770075G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2598C>A	3.37:g.38770075G>T	ENSP00000390600:p.Cys866*						p.C866*	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2598	-			866			II.|Helical; Name=S6 of repeat II; (Potential).		A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.2598C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	37	6.013853	0.97200	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.92	3.08	0.35506	.	0.048448	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7132	0.45997	0.2166:0.0:0.7834:0.0	.	.	.	.	X	866	.	ENSP00000390600:C866X	C	-	3	2	SCN10A	38745079	1.000000	0.71417	0.999000	0.59377	0.411000	0.31082	2.548000	0.45794	1.295000	0.44724	0.561000	0.74099	TGC		0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		13	45	1	0	2.32078e-09	0.003163	3.14368e-09	13	45				
SCN10A	6336	broad.mit.edu	37	3	38835477	38835477	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:38835477C>T	ENST00000449082.2	-	1	24	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	9					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTGTTAGTTTCGAGGGATCCA	0.453																																							uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(25-27)GAA>AAA		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						157.0	160.0	159.0					3																	38835477		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835477C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.25G>A	3.37:g.38835477C>T	ENSP00000390600:p.Glu9Lys						p.E9K	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	25	-			9					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.25G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427085	0.25726	.	.	ENSG00000185313	ENST00000449082	D	0.95949	-3.86	5.05	-1.65	0.08291	.	0.681226	0.15364	N	0.266203	D	0.92873	0.7733	M	0.63843	1.955	0.19575	N	0.999961	P	0.41710	0.76	B	0.29716	0.106	T	0.83103	-0.0127	10	0.72032	D	0.01	.	21.0046	0.99943	0.0:0.3474:0.6526:0.0	.	9	Q9Y5Y9	SCNAA_HUMAN	K	9	ENSP00000390600:E9K	ENSP00000390600:E9K	E	-	1	0	SCN10A	38810481	0.001000	0.12720	0.180000	0.23079	0.008000	0.06430	1.296000	0.33389	-0.545000	0.06224	-0.300000	0.09419	GAA		0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		18	130	0	0	0	0.014323	0	18	130				
HHATL	57467	broad.mit.edu	37	3	42734344	42734344	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:42734344T>A	ENST00000441594.1	-	12	1675	c.1414A>T	c.(1414-1416)Atc>Ttc	p.I472F	HHATL_ENST00000310417.5_Missense_Mutation_p.I472F	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	472					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACAAACAGGATGGACAGCGTG	0.582																																							uc003clw.2		NA																	0				ovary(3)	3						c.(1414-1416)ATC>TTC		hedgehog acyltransferase-like							95.0	84.0	87.0					3																	42734344		2203	4300	6503	SO:0001583	missense	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42734344T>A	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1414A>T	3.37:g.42734344T>A	ENSP00000405423:p.Ile472Phe					HHATL_uc003clx.2_Missense_Mutation_p.I472F	p.I472F	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	13	1561	-			472			Helical; (Potential).		Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	c.1414A>T	CCDS2704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.066|6.066	0.380516|0.380516	0.11466|0.11466	.|.	.|.	ENSG00000010282|ENSG00000010282	ENST00000426666|ENST00000310417;ENST00000441594	.|T;T	.|0.18502	.|2.21;2.21	3.25|3.25	-2.8|-2.8	0.05823|0.05823	.|.	.|0.399071	.|0.25411	.|N	.|0.030873	T|T	0.10078|0.10078	0.0247|0.0247	L|L	0.43152|0.43152	1.355|1.355	0.37871|0.37871	D|D	0.930077|0.930077	.|B	.|0.34103	.|0.437	.|B	.|0.26310	.|0.068	T|T	0.14504|0.14504	-1.0470|-1.0470	5|10	.|0.31617	.|T	.|0.26	-3.3854|-3.3854	8.0582|8.0582	0.30617|0.30617	0.0:0.4053:0.0:0.5947|0.0:0.4053:0.0:0.5947	.|.	.|472	.|Q9HCP6	.|HHATL_HUMAN	L|F	91|472	.|ENSP00000310621:I472F;ENSP00000405423:I472F	.|ENSP00000310621:I472F	H|I	-|-	2|1	0|0	HHATL|HHATL	42709348|42709348	0.000000|0.000000	0.05858|0.05858	0.206000|0.206000	0.23566|0.23566	0.022000|0.022000	0.10575|0.10575	-0.471000|-0.471000	0.06631|0.06631	-0.756000|-0.756000	0.04703|0.04703	-1.519000|-1.519000	0.00935|0.00935	CAT|ATC		0.582	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		4	54	0	0	0	0.009096	0	4	54				
ZKSCAN7	55888	broad.mit.edu	37	3	44612228	44612228	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:44612228G>T	ENST00000273320.3	+	6	2055	c.1626G>T	c.(1624-1626)caG>caT	p.Q542H	RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.Q542H|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	542					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)										TTGACCATCAGAGAATCCACA	0.463																																						Esophageal Squamous(121;907 1626 38429 48584 52774)	uc010hin.2		NA																	0				ovary(2)	2						c.(1624-1626)CAG>CAT		zinc finger protein 167 isoform 1							112.0	115.0	114.0					3																	44612228		2203	4300	6503	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44612228G>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1626G>T	3.37:g.44612228G>T	ENSP00000273320:p.Gln542His					ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.Q542H|ZNF167_uc003cnk.2_Intron	p.Q542H	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	2014	+			542			C2H2-type 6.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1626G>T	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	15.07	2.725278	0.48833	.	.	ENSG00000196345	ENST00000426540;ENST00000273320	T;T	0.07567	3.18;3.18	4.36	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.366044	0.16384	N	0.216799	T	0.15869	0.0382	L	0.58302	1.8	0.80722	D	1	D	0.64830	0.994	P	0.57548	0.823	T	0.02450	-1.1157	10	0.48119	T	0.1	-10.4507	5.4471	0.16541	0.1849:0.1659:0.6492:0.0	.	542	Q9P0L1	ZN167_HUMAN	H	542	ENSP00000395524:Q542H;ENSP00000273320:Q542H	ENSP00000273320:Q542H	Q	+	3	2	ZNF167	44587232	0.873000	0.30073	1.000000	0.80357	0.992000	0.81027	1.599000	0.36751	0.493000	0.27837	0.655000	0.94253	CAG		0.463	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		7	74	1	0	0.000157383	0.00308	0.00017703	7	74				
TGM4	7047	broad.mit.edu	37	3	44929264	44929264	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:44929264C>A	ENST00000296125.4	+	3	345	c.277C>A	c.(277-279)Ctt>Att	p.L93I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	93					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCAGGCAACCCTTCAAAATGA	0.612																																							uc003coc.3		NA																	0				ovary(1)	1						c.(277-279)CTT>ATT		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						83.0	75.0	78.0					3																	44929264		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44929264C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.277C>A	3.37:g.44929264C>A	ENSP00000296125:p.Leu93Ile					TGM4_uc003coa.2_Missense_Mutation_p.L93I|TGM4_uc003cob.2_Intron	p.L93I	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	3	350	+			93					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.277C>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.190733	0.01607	.	.	ENSG00000163810	ENST00000296125	D	0.82984	-1.67	1.63	-1.62	0.08372	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.857574	0.09514	N	0.791874	T	0.64238	0.2580	N	0.21142	0.635	0.09310	N	1	B;B	0.23937	0.094;0.01	B;B	0.22601	0.04;0.009	T	0.51387	-0.8712	10	0.02654	T	1	.	6.308	0.21149	0.4098:0.5902:0.0:0.0	.	93;93	P49221;B4YUQ1	TGM4_HUMAN;.	I	93	ENSP00000296125:L93I	ENSP00000296125:L93I	L	+	1	0	TGM4	44904268	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.161000	0.10026	-0.401000	0.07644	0.467000	0.42956	CTT		0.612	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		18	59	1	0	1.33834e-09	0.007413	1.82181e-09	18	59				
TGM4	7047	broad.mit.edu	37	3	44952822	44952822	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:44952822C>A	ENST00000296125.4	+	13	1905	c.1837C>A	c.(1837-1839)Ctg>Atg	p.L613M		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	613					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CAAGAATACCCTGGCCATCCC	0.493																																							uc003coc.3		NA																	0				ovary(1)	1						c.(1837-1839)CTG>ATG		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						179.0	163.0	168.0					3																	44952822		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44952822C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1837C>A	3.37:g.44952822C>A	ENSP00000296125:p.Leu613Met						p.L613M	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	13	1910	+			613					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1837C>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502664	0.26949	.	.	ENSG00000163810	ENST00000296125	D	0.86297	-2.1	2.72	0.748	0.18376	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.000000	0.36303	U	0.002674	D	0.89125	0.6626	L	0.58810	1.83	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79574	-0.1747	10	0.87932	D	0	.	4.4707	0.11712	0.1752:0.6169:0.0:0.2079	.	613	P49221	TGM4_HUMAN	M	613	ENSP00000296125:L613M	ENSP00000296125:L613M	L	+	1	2	TGM4	44927826	0.041000	0.20044	0.000000	0.03702	0.007000	0.05969	1.391000	0.34475	-0.139000	0.11414	-1.119000	0.02030	CTG		0.493	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		10	116	1	0	1.58986e-06	0.008291	1.94395e-06	10	116				
FBXW12	285231	broad.mit.edu	37	3	48421036	48421036	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:48421036T>C	ENST00000296438.5	+	7	948	c.762T>C	c.(760-762)cgT>cgC	p.R254R	RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000415155.1_Silent_p.R184R|FBXW12_ENST00000436231.1_Silent_p.R97R|FBXW12_ENST00000445170.1_Silent_p.R235R	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	254										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATACAGTCGTACCTTGCCAC	0.418																																							uc003csr.2		NA																	0					0						c.(760-762)CGT>CGC		F-box and WD repeat domain containing 12 isoform							241.0	214.0	223.0					3																	48421036		2203	4300	6503	SO:0001819	synonymous_variant	285231							g.chr3:48421036T>C	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.762T>C	3.37:g.48421036T>C						FBXW12_uc010hjv.2_Silent_p.R235R|FBXW12_uc003css.2_Silent_p.R184R|FBXW12_uc010hjw.2_Silent_p.R153R	p.R254R	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	7	948	+			254					E9PG36|Q494Y9|Q494Z0	Silent	SNP	ENST00000296438.5	37	c.762T>C	CCDS2764.1																																																																																				0.418	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		13	140	0	0	0	0.003163	0	13	140				
COL7A1	1294	broad.mit.edu	37	3	48619155	48619155	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:48619155C>A	ENST00000328333.8	-	48	4813	c.4706G>T	c.(4705-4707)gGa>gTa	p.G1569V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1569V|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1569	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTTGGACTCCGGTAGCTCC	0.592																																							uc003ctz.2		NA																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(4705-4707)GGA>GTA		alpha 1 type VII collagen precursor							142.0	147.0	146.0					3																	48619155		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48619155C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4706G>T	3.37:g.48619155C>A	ENSP00000332371:p.Gly1569Val					MIR711_hsa-mir-711|MI0012488_5'Flank	p.G1569V	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	48	4707	-			1569			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4706G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719125	0.30503	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.97941	-4.62;-4.62	5.11	5.11	0.69529	.	0.000000	0.46145	D	0.000317	D	0.99165	0.9711	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99044	1.0825	10	0.87932	D	0	.	15.2543	0.73573	0.0:1.0:0.0:0.0	.	1569	Q02388	CO7A1_HUMAN	V	1569	ENSP00000332371:G1569V;ENSP00000412569:G1569V	ENSP00000332371:G1569V	G	-	2	0	COL7A1	48594159	0.995000	0.38212	0.990000	0.47175	0.089000	0.18198	5.074000	0.64401	2.371000	0.80710	0.655000	0.94253	GGA		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		28	115	1	0	1.16021e-09	0.007291	1.58977e-09	28	115				
COL7A1	1294	broad.mit.edu	37	3	48628112	48628112	+	Missense_Mutation	SNP	G	G	A	rs147470888		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:48628112G>A	ENST00000328333.8	-	13	1881	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R592C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	592	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACCCCGGCGGACAGTGAGG	0.597																																							uc003ctz.2		NA																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(1774-1776)CGC>TGC		alpha 1 type VII collagen precursor		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	91.0	75.0	80.0		1774	5.0	0.8	3	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL7A1	NM_000094.3	180	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	592/2945	48628112	3,13003	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48628112G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1774C>T	3.37:g.48628112G>A	ENSP00000332371:p.Arg592Cys						p.R592C	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	13	1775	-			592			Fibronectin type-III 4.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1774C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	8.052	0.766234	0.15983	4.54E-4	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.86627	-2.14;-2.15	5.01	5.01	0.66863	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.282256	0.25197	N	0.032416	D	0.87811	0.6271	L	0.48642	1.525	0.32538	N	0.534078	D	0.67145	0.996	P	0.50791	0.65	D	0.90626	0.4563	10	0.87932	D	0	.	16.6423	0.85129	0.0:0.0:1.0:0.0	.	592	Q02388	CO7A1_HUMAN	C	592	ENSP00000332371:R592C;ENSP00000412569:R592C	ENSP00000332371:R592C	R	-	1	0	COL7A1	48603116	1.000000	0.71417	0.838000	0.33150	0.165000	0.22458	4.138000	0.58017	2.787000	0.95880	0.650000	0.86243	CGC		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		26	59	0	0	0	0.004656	0	26	59				
UBA7	7318	broad.mit.edu	37	3	49847796	49847796	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:49847796C>A	ENST00000333486.3	-	13	1691	c.1533G>T	c.(1531-1533)ccG>ccT	p.P511P	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	511	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTAGGTGAGCGGGATCACCT	0.597																																							uc003cxr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1531-1533)CCG>CCT		ubiquitin-like modifier activating enzyme 7							97.0	100.0	99.0					3																	49847796		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847796C>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1533G>T	3.37:g.49847796C>A							p.P511P	NM_003335	NP_003326	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	13	1704	-			511			1-2.|2 approximate repeats.		Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.1533G>T	CCDS2805.1																																																																																				0.597	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		26	116	1	0	2.24059e-21	0.00632	3.87777e-21	26	116				
ADAMTS9	56999	broad.mit.edu	37	3	64633707	64633707	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:64633707C>A	ENST00000498707.1	-	11	1961	c.1619G>T	c.(1618-1620)cGg>cTg	p.R540L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R512L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	540	Disintegrin.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCACCAGAGCCGTCTGCACTG	0.473																																							uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(1618-1620)CGG>CTG		ADAM metallopeptidase with thrombospondin type 1							128.0	114.0	119.0					3																	64633707		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64633707C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1619G>T	3.37:g.64633707C>A	ENSP00000418735:p.Arg540Leu					ADAMTS9_uc011bfo.1_Missense_Mutation_p.R512L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R369L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R540L	p.R540L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	11	1651	-		Lung NSC(201;0.00682)	540			Disintegrin.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.1619G>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661571	0.88154	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.60672	0.17;0.18	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.89917	0.99;0.994;1.0;0.996	P;D;D;D	0.91635	0.869;0.938;0.999;0.91	D	0.85930	0.1451	10	0.72032	D	0.01	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	512;540;540;540	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	L	512;540	ENSP00000295903:R512L;ENSP00000418735:R540L	ENSP00000295903:R512L	R	-	2	0	ADAMTS9	64608747	1.000000	0.71417	0.970000	0.41538	0.606000	0.37113	7.433000	0.80362	2.788000	0.95919	0.585000	0.79938	CGG		0.473	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			23	89	1	0	7.92952e-12	0.003954	1.15732e-11	23	89				
OR5H2	79310	broad.mit.edu	37	3	98001766	98001766	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:98001766C>T	ENST00000355273.2	+	1	35	c.35C>T	c.(34-36)aCa>aTa	p.T12I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GATAATACAACATTGCTGACA	0.408																																							uc003dsj.1		NA																	0				ovary(3)	3						c.(34-36)ACA>ATA		olfactory receptor, family 5, subfamily H,							209.0	198.0	202.0					3																	98001766		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001766C>T		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.35C>T	3.37:g.98001766C>T	ENSP00000347418:p.Thr12Ile						p.T12I	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	35	+			12			Extracellular (Potential).		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.35C>T	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696907	0.48202	.	.	ENSG00000197938	ENST00000355273	T	0.54675	0.56	3.2	2.31	0.28768	.	0.000000	0.40908	U	0.000997	T	0.72732	0.3497	H	0.94847	3.59	0.09310	N	1	D	0.71674	0.998	D	0.66716	0.946	T	0.63382	-0.6650	10	0.72032	D	0.01	.	3.8484	0.08945	0.2374:0.63:0.0:0.1327	.	12	Q8NGV7	OR5H2_HUMAN	I	12	ENSP00000347418:T12I	ENSP00000347418:T12I	T	+	2	0	OR5H2	99484456	0.000000	0.05858	0.005000	0.12908	0.478000	0.33099	0.005000	0.13129	0.675000	0.31264	0.543000	0.68304	ACA		0.408	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			24	130	0	0	0	0.004656	0	24	130				
CCDC54	84692	broad.mit.edu	37	3	107096967	107096967	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:107096967C>A	ENST00000261058.1	+	1	780	c.533C>A	c.(532-534)aCt>aAt	p.T178N		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	178										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CAACCAGCAACTCTGAAGAAC	0.423																																							uc003dwi.1		NA																	0					0						c.(532-534)ACT>AAT		coiled-coil domain containing 54							82.0	74.0	77.0					3																	107096967		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107096967C>A	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.533C>A	3.37:g.107096967C>A	ENSP00000261058:p.Thr178Asn						p.T178N	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			1	780	+			178					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.533C>A	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904593	0.17760	.	.	ENSG00000138483	ENST00000261058	T	0.48522	0.81	4.7	2.74	0.32292	.	0.573193	0.15600	N	0.253980	T	0.56978	0.2022	M	0.62723	1.935	0.09310	N	1	D	0.61697	0.99	P	0.62382	0.901	T	0.42582	-0.9443	10	0.56958	D	0.05	-0.7844	5.6569	0.17647	0.0:0.751:0.0:0.249	.	178	Q8NEL0	CCD54_HUMAN	N	178	ENSP00000261058:T178N	ENSP00000261058:T178N	T	+	2	0	CCDC54	108579657	0.011000	0.17503	0.058000	0.19502	0.044000	0.14063	0.365000	0.20348	1.213000	0.43380	0.460000	0.39030	ACT		0.423	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		23	54	1	0	2.39556e-15	0.00278	3.84124e-15	23	54				
DZIP3	9666	broad.mit.edu	37	3	108363053	108363053	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:108363053A>T	ENST00000361582.3	+	14	1414	c.1184A>T	c.(1183-1185)cAt>cTt	p.H395L	DZIP3_ENST00000463306.1_Missense_Mutation_p.H395L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	395					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TATTTCTATCATCTGCTTCAT	0.308																																							uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1183-1185)CAT>CTT		DAZ interacting protein 3, zinc finger							48.0	52.0	51.0					3																	108363053		2202	4294	6496	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363053A>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1184A>T	3.37:g.108363053A>T	ENSP00000355028:p.His395Leu					DZIP3_uc003dxf.1_Missense_Mutation_p.H395L|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.H395L|DZIP3_uc003dxg.1_Missense_Mutation_p.H118L	p.H395L	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			14	1606	+			395					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1184A>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293680	0.60086	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.46451	0.87;0.87;0.87	4.6	4.6	0.57074	.	0.000000	0.49916	D	0.000129	T	0.47619	0.1455	N	0.22421	0.69	0.37736	D	0.925453	D;D	0.71674	0.997;0.998	D;D	0.78314	0.991;0.987	T	0.55270	-0.8167	10	0.66056	D	0.02	-19.0763	10.5563	0.45118	1.0:0.0:0.0:0.0	.	395;395	C9J9M8;Q86Y13	.;DZIP3_HUMAN	L	395	ENSP00000355028:H395L;ENSP00000418115:H395L;ENSP00000419981:H395L	ENSP00000355028:H395L	H	+	2	0	DZIP3	109845743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.944000	0.56629	2.063000	0.61619	0.533000	0.62120	CAT		0.308	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		8	25	0	0	0	0.004482	0	8	25				
GUCA1C	9626	broad.mit.edu	37	3	108672552	108672552	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:108672552G>T	ENST00000261047.3	-	1	190	c.58C>A	c.(58-60)Cat>Aat	p.H20N	GUCA1C_ENST00000393963.3_Missense_Mutation_p.H20N|GUCA1C_ENST00000471108.1_Missense_Mutation_p.H20N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	20	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TACCACACATGGGTCTCTTGT	0.433																																					NSCLC(157;1360 1999 30631 40189 44208)	NSCLC(157;1360 1999 30631 40189 44208)	uc003dxj.2		NA																	0					0						c.(58-60)CAT>AAT		guanylate cyclase activator 1C							156.0	158.0	157.0					3																	108672552		2203	4300	6503	SO:0001583	missense	9626				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr3:108672552G>T	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.58C>A	3.37:g.108672552G>T	ENSP00000261047:p.His20Asn					GUCA1C_uc003dxk.2_Missense_Mutation_p.H20N	p.H20N	NM_005459	NP_005450	O95843	GUC1C_HUMAN			1	126	-			20			EF-hand 1.		O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	c.58C>A	CCDS2954.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536336	0.45176	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.66460	-0.21;-0.21;-0.21	5.6	0.0455	0.14230	EF-hand-like domain (1);	0.595983	0.18610	N	0.136191	T	0.69780	0.3149	L	0.53249	1.67	0.28994	N	0.887853	D;B	0.69078	0.997;0.0	D;B	0.66847	0.947;0.002	T	0.61618	-0.7026	10	0.66056	D	0.02	.	3.7286	0.08484	0.4019:0.0:0.4142:0.1839	.	20;20	C9JNI2;O95843	.;GUC1C_HUMAN	N	20	ENSP00000377535:H20N;ENSP00000261047:H20N;ENSP00000417761:H20N	ENSP00000261047:H20N	H	-	1	0	GUCA1C	110155242	1.000000	0.71417	0.033000	0.17914	0.455000	0.32408	1.580000	0.36547	0.131000	0.18576	-0.312000	0.09012	CAT		0.433	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459		8	65	1	0	0.00621372	0.006214	0.0066725	8	65				
C3orf30	152405	broad.mit.edu	37	3	118870133	118870133	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:118870133G>T	ENST00000295622.1	+	3	1645	c.1605G>T	c.(1603-1605)caG>caT	p.Q535H	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	535										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TGCTGTGCCAGGTATAGAATT	0.368																																							uc003ecb.1		NA																	0				ovary(2)	2						c.(1603-1605)CAG>CAT		hypothetical protein LOC152405							160.0	172.0	168.0					3																	118870133		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118870133G>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1605G>T	3.37:g.118870133G>T	ENSP00000295622:p.Gln535His					C3orf30_uc011biw.1_Missense_Mutation_p.Q534H	p.Q535H	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	1645	+			535					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.1605G>T	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.16|14.16	2.452257|2.452257	0.43531|0.43531	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000492792|ENST00000295622;ENST00000470341	.|T	.|0.18657	.|2.2	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.128392	.|0.35151	.|N	.|0.003411	T|T	0.36771|0.36771	0.0979|0.0979	L|L	0.39633|0.39633	1.23|1.23	0.40081|0.40081	D|D	0.976135|0.976135	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.991;0.991	T|T	0.10917|0.10917	-1.0609|-1.0609	5|10	.|0.87932	.|D	.|0	-7.7128|-7.7128	13.6835|13.6835	0.62502|0.62502	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|534;535	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	C|H	221|535;534	.|ENSP00000295622:Q535H	.|ENSP00000295622:Q535H	G|Q	+|+	1|3	0|2	C3orf30|C3orf30	120352823|120352823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.807000|0.807000	0.45602|0.45602	4.828000|4.828000	0.62730|0.62730	2.608000|2.608000	0.88229|0.88229	0.591000|0.591000	0.81541|0.81541	GGT|CAG		0.368	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		15	139	1	0	0.00400662	0.004007	0.0043475	15	139				
POPDC2	64091	broad.mit.edu	37	3	119367326	119367326	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:119367326G>A	ENST00000264231.3	-	3	956	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	POPDC2_ENST00000468801.1_Missense_Mutation_p.L264F|POPDC2_ENST00000493094.1_Missense_Mutation_p.L264F|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000538678.1_Missense_Mutation_p.L264F	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	264					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGGCTGGGAAGGCGGATGTCA	0.557																																							uc003ecx.1		NA																	0				central_nervous_system(1)	1						c.(790-792)CTT>TTT		popeye protein 2							102.0	96.0	98.0					3																	119367326		2203	4300	6503	SO:0001583	missense	64091					integral to membrane		g.chr3:119367326G>A	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.790C>T	3.37:g.119367326G>A	ENSP00000264231:p.Leu264Phe					POPDC2_uc010hqw.1_Missense_Mutation_p.L264F|POPDC2_uc003ecy.1_Missense_Mutation_p.L82F	p.L264F	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	3	924	-			264					Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	c.790C>T	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095782	0.76870	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.28666	1.6;1.61;1.6;1.6	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55023	-0.8205	10	0.72032	D	0.01	.	12.4557	0.55702	0.087:0.0:0.913:0.0	.	264;264	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	F	264	ENSP00000264231:L264F;ENSP00000417250:L264F;ENSP00000420715:L264F;ENSP00000438271:L264F	ENSP00000264231:L264F	L	-	1	0	POPDC2	120850016	1.000000	0.71417	0.999000	0.59377	0.805000	0.45488	4.408000	0.59761	2.629000	0.89072	0.561000	0.74099	CTT		0.557	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		9	65	0	0	0	0.004482	0	9	65				
SEMA5B	54437	broad.mit.edu	37	3	122645471	122645471	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:122645471G>T	ENST00000357599.3	-	9	1290	c.904C>A	c.(904-906)Cgg>Agg	p.R302R	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Silent_p.R356R|SEMA5B_ENST00000195173.4_Silent_p.R302R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	302	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCGTTCTCCCGCAGGAAGAAG	0.612																																							uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(904-906)CGG>AGG		semaphorin 5B isoform 1							64.0	52.0	56.0					3																	122645471		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122645471G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.904C>A	3.37:g.122645471G>T						SEMA5B_uc011bju.1_Silent_p.R244R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.R302R|SEMA5B_uc010hro.1_Silent_p.R244R|SEMA5B_uc010hrp.1_RNA	p.R302R	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	9	1208	-			302			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.904C>A	CCDS35491.1																																																																																				0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		14	40	1	0	0.000151284	0.001855	0.000170632	14	40				
KALRN	8997	broad.mit.edu	37	3	124438088	124438088	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:124438088C>A	ENST00000291478.5	+	27	3804	c.3641C>A	c.(3640-3642)gCc>gAc	p.A1214D	KALRN_ENST00000428018.2_Missense_Mutation_p.A1182D|KALRN_ENST00000360013.3_Missense_Mutation_p.A2911D	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2910					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCAATGCTGCCAGAGATTTC	0.512																																							uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8731-8733)GCC>GAC		kalirin, RhoGEF kinase isoform 1							73.0	70.0	71.0					3																	124438088		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124438088C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3641C>A	3.37:g.124438088C>A	ENSP00000291478:p.Ala1214Asp					KALRN_uc003ehk.2_Missense_Mutation_p.A1214D	p.A2911D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			60	8859	+			2910			Protein kinase.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8732C>A	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.315286|4.315286	0.81358|0.81358	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.68903|.	-0.36;-0.36;-0.36|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88716|0.88716	0.6512|0.6512	H|H	0.96576|0.96576	3.845|3.845	0.52501|0.52501	D|D	0.999959|0.999959	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.998|.	D|D	0.91733|0.91733	0.5398|0.5398	10|5	0.87932|.	D|.	0|.	.|.	19.6296|19.6296	0.95694|0.95694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1214;2910|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	D|T	2911;1214;1182|2880	ENSP00000353109:A2911D;ENSP00000291478:A1214D;ENSP00000402419:A1182D|.	ENSP00000291478:A1214D|.	A|P	+|+	2|1	0|0	KALRN|KALRN	125920778|125920778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	7.651000|7.651000	0.83577|0.83577	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.512	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		7	42	1	0	0.00829132	0.008291	0.00888049	7	42				
PIK3R4	30849	broad.mit.edu	37	3	130400427	130400428	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:130400427_130400428CC>AA	ENST00000356763.3	-	17	4172_4173	c.3615_3616GG>TT	c.(3613-3618)caGGgc>caTTgc	p.1205_1206QG>HC	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1205					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TCGTTGTTGCCCTGAACAGCTA	0.436																																							uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(3613-3618)CAGGGC>CATTGC		phosphoinositide-3-kinase, regulatory subunit 4																																				SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130400427_130400428CC>AA	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3615_3616delinsAA	3.37:g.130400427_130400428delinsAA	ENSP00000349205:p.Q1205_G1206delinsHC						p.1205_1206QG>HC	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			17	4196_4197	-			1205_1206			WD 5.		Q2TBF4	Missense_Mutation	DNP	ENST00000356763.3	37	c.3615_3616GG>TT	CCDS3067.1																																																																																				0.436	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		5	54	0	0	0	0.004672	0	5	54				
NPHP3	27031	broad.mit.edu	37	3	132416140	132416140	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:132416140T>A	ENST00000337331.5	-	14	2138	c.2052A>T	c.(2050-2052)gaA>gaT	p.E684D	NPHP3_ENST00000326682.8_Missense_Mutation_p.E684D	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	684					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGAGTGGCATTCTGCAATTA	0.308																																							uc003epe.1		NA																	0				ovary(1)	1						c.(2050-2052)GAA>GAT		nephrocystin 3							143.0	159.0	153.0					3																	132416140		2202	4298	6500	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132416140T>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2052A>T	3.37:g.132416140T>A	ENSP00000338766:p.Glu684Asp					NPHP3_uc003epd.1_5'UTR	p.E684D	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			14	2129	-			684					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.2052A>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974397	0.74246	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	T;T	0.81163	-1.46;-0.02	6.07	-0.269	0.12930	.	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.67103	0.949	T	0.79971	-0.1578	10	0.35671	T	0.21	-29.7418	11.6717	0.51406	0.0:0.4661:0.0:0.5339	.	684	Q7Z494	NPHP3_HUMAN	D	684	ENSP00000319909:E684D;ENSP00000338766:E684D	ENSP00000319909:E684D	E	-	3	2	NPHP3	133898830	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	0.588000	0.23924	-0.248000	0.09583	-0.250000	0.11733	GAA		0.308	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		17	59	0	0	0	0.012319	0	17	59				
RBP1	5947	broad.mit.edu	37	3	139257718	139257718	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:139257718G>A	ENST00000483943.2	-	2	343	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	RBP1_ENST00000492918.1_Missense_Mutation_p.R115C|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.R115C	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	53					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CTCAGCGTGCGGATGATCATA	0.522																																							uc003eti.2		NA																	0					0						c.(343-345)CGC>TGC		retinol binding protein 1, cellular isoform a	Vitamin A(DB00162)						241.0	191.0	208.0					3																	139257718		2203	4300	6503	SO:0001583	missense	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139257718G>A		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.343C>T	3.37:g.139257718G>A	ENSP00000424813:p.Arg115Cys					RBP1_uc011bmx.1_Missense_Mutation_p.R115C|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Missense_Mutation_p.R115C	p.R115C	NM_002899	NP_002890	P09455	RET1_HUMAN			2	454	-			53					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	c.343C>T	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096362	0.56075	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.24350	1.86;1.86;1.86	5.28	3.38	0.38709	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.088665	0.39407	N	0.001363	T	0.46229	0.1382	M	0.78456	2.415	0.46241	D	0.998945	D;D;B	0.89917	1.0;1.0;0.332	D;D;B	0.79108	0.964;0.992;0.114	T	0.44574	-0.9319	10	0.87932	D	0	.	6.457	0.21936	0.0907:0.0:0.588:0.3213	.	115;115;53	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	C	115	ENSP00000232219:R115C;ENSP00000424813:R115C;ENSP00000429166:R115C	ENSP00000232219:R115C	R	-	1	0	RBP1	140740408	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	5.457000	0.66672	1.223000	0.43536	-0.259000	0.10710	CGC		0.522	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		10	92	0	0	0	0.006214	0	10	92				
PXYLP1	92370	broad.mit.edu	37	3	141011153	141011153	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:141011153C>T	ENST00000286353.4	+	6	686	c.549C>T	c.(547-549)atC>atT	p.I183I	ACPL2_ENST00000393010.2_Silent_p.I183I|ACPL2_ENST00000508812.1_Silent_p.I174I|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Silent_p.I167I|ACPL2_ENST00000502783.1_Silent_p.I145I|ACPL2_ENST00000504264.1_Silent_p.I166I	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		183						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TGAGGGATATCTATCTAAAGA	0.478																																							uc003etu.2		NA																	0				skin(1)	1						c.(547-549)ATC>ATT		acid phosphatase-like 2 precursor							83.0	81.0	82.0					3																	141011153		2203	4300	6503	SO:0001819	synonymous_variant	92370					extracellular region	acid phosphatase activity	g.chr3:141011153C>T																												ENST00000286353.4:c.549C>T	3.37:g.141011153C>T						ACPL2_uc003etv.2_Silent_p.I183I|ACPL2_uc011bna.1_Silent_p.I145I|ACPL2_uc011bnb.1_Silent_p.I166I	p.I183I	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			8	848	+			183					D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	c.549C>T	CCDS3116.1																																																																																				0.478	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			20	59	0	0	0	0.00278	0	20	59				
ZIC1	7545	broad.mit.edu	37	3	147128661	147128661	+	Silent	SNP	G	G	T	rs371187124		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:147128661G>T	ENST00000282928.4	+	1	1491	c.762G>T	c.(760-762)acG>acT	p.T254T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	254					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCTAGTTACGCACGTCACCG	0.557																																							uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(760-762)ACG>ACT		zinc finger protein of the cerebellum 1							103.0	95.0	98.0					3																	147128661		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128661G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.762G>T	3.37:g.147128661G>T							p.T254T	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1481	+			254			C2H2-type 1; atypical.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.762G>T	CCDS3136.1																																																																																				0.557	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		5	78	1	0	8.12818e-05	0.001984	9.20528e-05	5	78				
IGSF10	285313	broad.mit.edu	37	3	151156248	151156248	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:151156248C>A	ENST00000282466.3	-	6	6100	c.6101G>T	c.(6100-6102)aGa>aTa	p.R2034I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2034	Ig-like C2-type 6.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTTTCAGTCTTAGGCTAAC	0.428																																							uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(6100-6102)AGA>ATA		immunoglobulin superfamily, member 10 precursor							146.0	139.0	141.0					3																	151156248		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151156248C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6101G>T	3.37:g.151156248C>A	ENSP00000282466:p.Arg2034Ile					IGSF10_uc011bob.1_Missense_Mutation_p.R61I|IGSF10_uc011boc.1_Missense_Mutation_p.R13I	p.R2034I	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6101	-			2034			Ig-like C2-type 6.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.6101G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721274	0.68959	.	.	ENSG00000152580	ENST00000282466	T	0.77750	-1.12	5.52	3.69	0.42338	Immunoglobulin-like (1);	0.292022	0.23962	N	0.042857	T	0.72486	0.3466	M	0.64170	1.965	0.37772	D	0.926702	P;B	0.51791	0.948;0.371	B;B	0.43103	0.408;0.271	T	0.70160	-0.4948	10	0.21014	T	0.42	.	10.019	0.42031	0.0:0.4979:0.4236:0.0784	.	2034;61	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	I	2034	ENSP00000282466:R2034I	ENSP00000282466:R2034I	R	-	2	0	IGSF10	152638938	0.427000	0.25514	0.001000	0.08648	0.923000	0.55619	2.588000	0.46137	0.667000	0.31107	0.655000	0.94253	AGA		0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		14	86	1	0	1.49906e-05	0.00245	1.75774e-05	14	86				
IGSF10	285313	broad.mit.edu	37	3	151161241	151161241	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:151161241G>A	ENST00000282466.3	-	5	5493	c.5494C>T	c.(5494-5496)Ctg>Ttg	p.L1832L	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1832	Ig-like C2-type 4.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTTAACCAGCAGTGAATCC	0.473																																							uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(5494-5496)CTG>TTG		immunoglobulin superfamily, member 10 precursor							54.0	55.0	54.0					3																	151161241		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161241G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5494C>T	3.37:g.151161241G>A						IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	p.L1832L	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5494	-			1832			Ig-like C2-type 4.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.5494C>T	CCDS3160.1																																																																																				0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		5	26	0	0	0	0.001984	0	5	26				
BCHE	590	broad.mit.edu	37	3	165547998	165547998	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:165547998G>T	ENST00000264381.3	-	2	990	c.824C>A	c.(823-825)gCt>gAt	p.A275D	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	275					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AGTCAATTTAGCTAAGTTCAA	0.388																																							uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(823-825)GCT>GAT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						97.0	101.0	100.0					3																	165547998		2203	4299	6502	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547998G>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.824C>A	3.37:g.165547998G>T	ENSP00000264381:p.Ala275Asp					BCHE_uc003fen.3_Intron	p.A275D	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	984	-			275					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.824C>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759732	0.31137	.	.	ENSG00000114200	ENST00000264381	T	0.75050	-0.9	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.051527	0.85682	D	0.000000	D	0.90776	0.7104	H	0.95187	3.635	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.93096	0.6504	10	0.87932	D	0	.	18.6354	0.91376	0.0:0.0:1.0:0.0	.	275	P06276	CHLE_HUMAN	D	275	ENSP00000264381:A275D	ENSP00000264381:A275D	A	-	2	0	BCHE	167030692	1.000000	0.71417	0.906000	0.35671	0.016000	0.09150	5.738000	0.68613	2.652000	0.90054	0.655000	0.94253	GCT		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			6	80	1	0	0.00198382	0.001984	0.00215825	6	80				
SAMD7	344658	broad.mit.edu	37	3	169637306	169637306	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:169637306T>A	ENST00000428432.2	+	3	409	c.20T>A	c.(19-21)tTg>tAg	p.L7*	SAMD7_ENST00000335556.3_Nonsense_Mutation_p.L7*	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	7										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AACCCTTTATTGACACCAACA	0.423																																							uc003fgd.2		NA																	0				skin(1)	1						c.(19-21)TTG>TAG		sterile alpha motif domain containing 7							145.0	141.0	142.0					3																	169637306		2203	4300	6503	SO:0001587	stop_gained	344658							g.chr3:169637306T>A	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.20T>A	3.37:g.169637306T>A	ENSP00000391299:p.Leu7*					SAMD7_uc003fge.2_Nonsense_Mutation_p.L7*|SAMD7_uc011bpo.1_5'UTR	p.L7*	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		3	287	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		7						Nonsense_Mutation	SNP	ENST00000428432.2	37	c.20T>A	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	T	34	5.301026	0.95601	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	.	.	.	5.44	5.44	0.79542	.	0.187567	0.35708	N	0.003024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8774	14.3612	0.66773	0.0:0.0:0.0:1.0	.	.	.	.	X	7	.	ENSP00000334668:L7X	L	+	2	0	SAMD7	171120000	1.000000	0.71417	0.520000	0.27837	0.014000	0.08584	5.327000	0.65881	2.196000	0.70406	0.459000	0.35465	TTG		0.423	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		20	93	0	0	0	0.00333	0	20	93				
ACTL6A	86	broad.mit.edu	37	3	179292203	179292203	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:179292203G>C	ENST00000429709.2	+	5	637	c.424G>C	c.(424-426)Gaa>Caa	p.E142Q	ACTL6A_ENST00000450518.2_Missense_Mutation_p.E100Q|ACTL6A_ENST00000392662.1_Missense_Mutation_p.E100Q	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	142					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GTTAATGTTTGAACACTACAA	0.358																																							uc003fjw.2		NA																	0				ovary(1)	1						c.(424-426)GAA>CAA		actin-like 6A isoform 1							203.0	202.0	202.0					3																	179292203		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179292203G>C	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.424G>C	3.37:g.179292203G>C	ENSP00000397552:p.Glu142Gln					ACTL6A_uc003fjx.2_Missense_Mutation_p.E100Q|ACTL6A_uc003fjy.2_Missense_Mutation_p.E100Q	p.E142Q	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		5	597	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		142					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.424G>C	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378387	0.95945	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.98947	-5.26;-5.26;-5.26	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.91663	3.23	0.80722	D	1	P	0.47106	0.89	P	0.51945	0.685	D	0.99655	1.0992	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	142	O96019	ACL6A_HUMAN	Q	142;100;100	ENSP00000397552:E142Q;ENSP00000394014:E100Q;ENSP00000376430:E100Q	ENSP00000376430:E100Q	E	+	1	0	ACTL6A	180774897	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.844000	0.99494	2.854000	0.98071	0.655000	0.94253	GAA		0.358	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		19	121	0	0	0	0.012319	0	19	121				
ECE2	9718	broad.mit.edu	37	3	183975374	183975374	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:183975374G>T	ENST00000402825.3	+	2	310	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.V104L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	104	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCATGCCCATGTGCCGCAGCT	0.602																																							uc003fni.3		NA																	0				ovary(2)|skin(2)	4						c.(310-312)GTG>TTG		endothelin converting enzyme 2 isoform A							76.0	70.0	72.0					3																	183975374		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183975374G>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.310G>T	3.37:g.183975374G>T	ENSP00000384223:p.Val104Leu					ECE2_uc003fnh.3_Missense_Mutation_p.V104L	p.V104L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	348	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		104			Cytoplasmic (Potential).|Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.310G>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579492	0.28180	.	.	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.56941	0.43;0.43	5.88	1.76	0.24704	Methyltransferase type 11 (1);	.	.	.	.	T	0.24661	0.0598	N	0.05330	-0.07	0.25397	N	0.988478	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.21930	-1.0231	9	0.11182	T	0.66	-0.2436	3.7614	0.08606	0.1425:0.2221:0.5094:0.126	.	104;104	O60344;O60344-4	ECE2_HUMAN;.	L	104	ENSP00000314295:V104L;ENSP00000384223:V104L	ENSP00000314295:V104L	V	+	1	0	ECE2	185458068	0.994000	0.37717	0.625000	0.29200	0.842000	0.47809	2.382000	0.44345	0.804000	0.34136	0.655000	0.94253	GTG		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		18	45	1	0	5.35267e-07	0.007413	6.68277e-07	18	45				
IGF2BP2	10644	broad.mit.edu	37	3	185376161	185376161	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:185376161G>A	ENST00000382199.2	-	11	1332	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.H419Y|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.H370Y|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.H356Y	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	413					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCAAACTGGTGATGGGGGTAC	0.612																																							uc003fpo.2		NA																	0					0						c.(1237-1239)CAC>TAC		insulin-like growth factor 2 mRNA binding							102.0	103.0	103.0					3																	185376161		2203	4300	6503	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185376161G>A	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1237C>T	3.37:g.185376161G>A	ENSP00000371634:p.His413Tyr					IGF2BP2_uc010hyi.2_Missense_Mutation_p.H356Y|IGF2BP2_uc010hyj.2_Missense_Mutation_p.H350Y|IGF2BP2_uc010hyk.2_Missense_Mutation_p.H277Y|IGF2BP2_uc010hyl.2_Missense_Mutation_p.H307Y|IGF2BP2_uc003fpp.2_Missense_Mutation_p.H370Y|IGF2BP2_uc003fpq.2_Missense_Mutation_p.H418Y	p.H413Y	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		11	1316	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		413					A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.1237C>T	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	G	3.848	-0.032452	0.07543	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.45276	2.22;0.9;2.49;2.29	4.56	3.67	0.42095	.	0.131088	0.52532	D	0.000074	T	0.16981	0.0408	N	0.08118	0	0.26767	N	0.969876	B;B;B;B;B;B	0.23735	0.047;0.026;0.001;0.0;0.09;0.054	B;B;B;B;B;B	0.26416	0.069;0.008;0.0;0.0;0.058;0.043	T	0.32402	-0.9908	10	0.02654	T	1	-10.2794	6.1007	0.20045	0.2018:0.0:0.7982:0.0	.	307;350;356;419;370;413	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	Y	413;356;419;370	ENSP00000371634:H413Y;ENSP00000413787:H356Y;ENSP00000410242:H419Y;ENSP00000320204:H370Y	ENSP00000320204:H370Y	H	-	1	0	IGF2BP2	186858855	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.421000	0.44688	2.070000	0.61991	0.467000	0.42956	CAC		0.612	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		13	114	0	0	0	0.004007	0	13	114				
RFC4	5984	broad.mit.edu	37	3	186512499	186512499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:186512499G>A	ENST00000392481.2	-	5	639	c.358C>T	c.(358-360)Cga>Tga	p.R120*	RFC4_ENST00000296273.2_Nonsense_Mutation_p.R120*|RFC4_ENST00000433496.1_Nonsense_Mutation_p.R120*	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	120					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R120*(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		ACTTTCTCTCGAACTACTTGT	0.348																																							uc003fqz.2		NA																	1	Substitution - Nonsense(1)		skin(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(358-360)CGA>TGA		replication factor C 4							146.0	139.0	142.0					3																	186512499		2203	4300	6503	SO:0001587	stop_gained	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186512499G>A		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.358C>T	3.37:g.186512499G>A	ENSP00000376272:p.Arg120*					RFC4_uc011bsc.1_Nonsense_Mutation_p.R120*|RFC4_uc011bsd.1_Nonsense_Mutation_p.R120*	p.R120*	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	5	581	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		120					B4DM41|D3DNV2|Q6FHX7	Nonsense_Mutation	SNP	ENST00000392481.2	37	c.358C>T	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027001	0.93518	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345;ENST00000427785	.	.	.	6.06	4.16	0.48862	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3274	0.26563	0.0923:0.0:0.6798:0.2279	.	.	.	.	X	120	.	ENSP00000296273:R120X	R	-	1	2	RFC4	187995193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.230000	0.58632	1.418000	0.47098	0.655000	0.94253	CGA		0.348	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		8	36	0	0	0	0.006214	0	8	36				
CPN2	1370	broad.mit.edu	37	3	194062715	194062715	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr3:194062715C>T	ENST00000323830.3	-	2	806	c.717G>A	c.(715-717)caG>caA	p.Q239Q	CPN2_ENST00000429275.1_Silent_p.Q239Q	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	239					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGCAGAAGAGCTGGGAGAACA	0.597																																							uc003fts.2		NA																	0				ovary(5)	5						c.(715-717)CAG>CAA		carboxypeptidase N, polypeptide 2							44.0	48.0	46.0					3																	194062715		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062715C>T	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.717G>A	3.37:g.194062715C>T							p.Q239Q	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	807	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		239			LRR 6.		B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.717G>A	CCDS33920.1																																																																																				0.597	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		8	44	0	0	0	0.004482	0	8	44				
OTOP1	133060	broad.mit.edu	37	4	4204256	4204256	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:4204256C>A	ENST00000296358.4	-	4	673	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	217					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGAGGACGCCATTGGCCCAC	0.522																																							uc003ghp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(649-651)GGC>TGC		otopetrin 1							135.0	118.0	124.0					4																	4204256		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204256C>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.649G>T	4.37:g.4204256C>A	ENSP00000296358:p.Gly217Cys						p.G217C	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	679	-			217					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.649G>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866787	0.51588	.	.	ENSG00000163982	ENST00000296358	T	0.21734	1.99	5.46	-2.89	0.05665	.	0.261441	0.44285	D	0.000473	T	0.39517	0.1081	M	0.63428	1.95	0.53005	D	0.999964	D	0.89917	1.0	D	0.72075	0.976	T	0.32719	-0.9896	10	0.72032	D	0.01	.	16.638	0.85064	0.0:0.8704:0.0:0.1296	.	217	Q7RTM1	OTOP1_HUMAN	C	217	ENSP00000296358:G217C	ENSP00000296358:G217C	G	-	1	0	OTOP1	4255157	1.000000	0.71417	0.265000	0.24526	0.520000	0.34377	1.111000	0.31159	-0.622000	0.05626	0.603000	0.83216	GGC		0.522	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		22	106	1	0	7.07758e-08	0.004656	9.1249e-08	22	106				
NSG1	27065	broad.mit.edu	37	4	4418977	4418977	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:4418977C>A	ENST00000421177.2	+	9	2364	c.373C>A	c.(373-375)Cca>Aca	p.P125T	NSG1_ENST00000397958.1_Missense_Mutation_p.P125T|STX18_ENST00000505286.1_Intron|NSG1_ENST00000513555.1_Missense_Mutation_p.P125T|NSG1_ENST00000505246.1_Missense_Mutation_p.P125T|NSG1_ENST00000433139.2_Missense_Mutation_p.P125T|NSG1_ENST00000504171.1_Missense_Mutation_p.P86T|NSG1_ENST00000506380.1_Missense_Mutation_p.P125T			P42857	NSG1_HUMAN		125					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CCAGTGCATCCCAGAAGGCTT	0.547																																							uc011bvz.1		NA																	0				ovary(1)	1						c.(373-375)CCA>ACA		brain neuron cytoplasmic protein 1							70.0	73.0	72.0					4																	4418977		2203	4300	6503	SO:0001583	missense	27065				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	g.chr4:4418977C>A																												ENST00000421177.2:c.373C>A	4.37:g.4418977C>A	ENSP00000388823:p.Pro125Thr					D4S234E_uc011bwa.1_Missense_Mutation_p.P86T|D4S234E_uc003ghz.2_Missense_Mutation_p.P125T|D4S234E_uc003gia.2_Missense_Mutation_p.P125T|D4S234E_uc003gib.2_Missense_Mutation_p.P125T	p.P125T	NM_014392	NP_055207	P42857	NSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	8	1654	+			125			Lumenal (Potential).		B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	c.373C>A	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807231	0.50421	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.82862	-0.0247	9	0.87932	D	0	-30.2201	16.7011	0.85349	0.0:1.0:0.0:0.0	.	86;125	B4DXC5;P42857	.;NSG1_HUMAN	T	125;125;125;125;125;125;86	.	ENSP00000381049:P125T	P	+	1	0	AC110814.1	4469878	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	7.152000	0.77419	2.000000	0.58554	0.561000	0.74099	CCA		0.547	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			11	60	1	0	1.61879e-10	0.013537	2.29791e-10	11	60				
PCDH7	5099	broad.mit.edu	37	4	30732382	30732382	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:30732382T>C	ENST00000361762.2	+	2	4190	c.3182T>C	c.(3181-3183)cTa>cCa	p.L1061P	PCDH7_ENST00000543491.1_Intron	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1061					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAGATGCGTCTACATCCATAC	0.378																																							uc003gsk.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3181-3183)CTA>CCA		protocadherin 7 isoform a precursor							183.0	175.0	177.0					4																	30732382		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30732382T>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.3182T>C	4.37:g.30732382T>C	ENSP00000355243:p.Leu1061Pro					PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Intron	p.L1061P	NM_002589	NP_002580	O60245	PCDH7_HUMAN			2	4190	+			1061			Cytoplasmic (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.3182T>C	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	T	9.734	1.163155	0.21538	.	.	ENSG00000169851	ENST00000361762	T	0.53206	0.63	5.5	0.632	0.17705	.	.	.	.	.	T	0.28863	0.0716	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05007	-1.0912	9	0.46703	T	0.11	.	7.4663	0.27324	0.0:0.4271:0.0:0.5729	.	1061	O60245	PCDH7_HUMAN	P	1061	ENSP00000355243:L1061P	ENSP00000355243:L1061P	L	+	2	0	PCDH7	30341480	0.991000	0.36638	0.994000	0.49952	0.994000	0.84299	-0.051000	0.11885	0.093000	0.17368	0.533000	0.62120	CTA		0.378	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		10	72	0	0	0	0.008291	0	10	72				
ATP8A1	10396	broad.mit.edu	37	4	42576725	42576725	+	Splice_Site	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:42576725C>A	ENST00000381668.5	-	14	1438		c.e14-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTATTTAACCTAAAAAAGTT	0.338																																							uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.e14-1		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						34.0	35.0	35.0					4																	42576725		2203	4298	6501	SO:0001630	splice_region_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42576725C>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1207-1G>T	4.37:g.42576725C>A						ATP8A1_uc003gws.2_Splice_Site_p.V403_splice|ATP8A1_uc011byz.1_Splice_Site_p.V403_splice	p.V403_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			14	1439	-								Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	ENST00000381668.5	37	c.1207_splice	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705340	0.89018	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42271482	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.752000	0.85141	2.596000	0.87737	0.591000	0.81541	.		0.338	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	Intron	6	17	1	0	8.12818e-05	0.001984	9.20528e-05	6	17				
GABRG1	2565	broad.mit.edu	37	4	46053597	46053597	+	Silent	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:46053597A>T	ENST00000295452.4	-	8	1142	c.975T>A	c.(973-975)ccT>ccA	p.P325P		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	325					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGAAACCTTAGGTAAAGACT	0.358																																							uc003gxb.2		NA																	0				ovary(2)	2						c.(973-975)CCT>CCA		gamma-aminobutyric acid A receptor, gamma 1							98.0	92.0	94.0					4																	46053597		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46053597A>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.975T>A	4.37:g.46053597A>T							p.P325P	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1127	-			325					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.975T>A	CCDS3470.1																																																																																				0.358	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		6	38	0	0	0	0.004482	0	6	38				
MUC7	4589	broad.mit.edu	37	4	71346837	71346837	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:71346837C>T	ENST00000304887.5	+	3	566	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	MUC7_ENST00000413702.1_Missense_Mutation_p.L126F|MUC7_ENST00000456088.1_Missense_Mutation_p.L126F|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	126	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AATTACTACCCTTCCAAATGT	0.418																																							uc011cat.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(376-378)CTT>TTT		mucin 7, secreted precursor							140.0	131.0	134.0					4																	71346837		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346837C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.376C>T	4.37:g.71346837C>T	ENSP00000302021:p.Leu126Phe					MUC7_uc011cau.1_Missense_Mutation_p.L126F|MUC7_uc003hfj.2_Missense_Mutation_p.L126F|uc011cav.1_RNA	p.L126F	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	664	+			126			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.376C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	7.027	0.559812	0.13436	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.57273	0.42;0.41;0.42;0.42	2.35	-4.7	0.03288	.	.	.	.	.	T	0.31358	0.0794	N	0.19112	0.55	0.09310	N	1	P	0.49253	0.921	B	0.43155	0.41	T	0.20672	-1.0268	9	0.56958	D	0.05	2.209	3.5439	0.07821	0.3764:0.3766:0.0:0.247	.	126	Q8TAX7	MUC7_HUMAN	F	126	ENSP00000407422:L126F;ENSP00000427594:L126F;ENSP00000400585:L126F;ENSP00000302021:L126F	ENSP00000302021:L126F	L	+	1	0	MUC7	71381426	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.036000	0.03560	-1.641000	0.01523	-0.367000	0.07326	CTT		0.418	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		24	101	0	0	0	0.00632	0	24	101				
SLC4A4	8671	broad.mit.edu	37	4	72338512	72338512	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:72338512G>T	ENST00000264485.5	+	14	1845	c.1728G>T	c.(1726-1728)ttG>ttT	p.L576F	SLC4A4_ENST00000425175.1_Missense_Mutation_p.L576F|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L576F|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.L532F|SLC4A4_ENST00000340595.3_Missense_Mutation_p.L532F	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	576					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCAGCTTCTTGGTTCAATACT	0.438																																							uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(1726-1728)TTG>TTT		solute carrier family 4, sodium bicarbonate							179.0	173.0	175.0					4																	72338512		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338512G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1728G>T	4.37:g.72338512G>T	ENSP00000264485:p.Leu576Phe					SLC4A4_uc010iic.2_Missense_Mutation_p.L576F|SLC4A4_uc010iib.2_Missense_Mutation_p.L576F|SLC4A4_uc003hfz.2_Missense_Mutation_p.L576F|SLC4A4_uc003hgc.3_Missense_Mutation_p.L532F|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.L454F|SLC4A4_uc003hgb.3_Missense_Mutation_p.L532F	p.L576F	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		14	1845	+			576			Helical; (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1728G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134230	0.77662	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.44	3.63	0.41609	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88768	0.6526	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D	0.76494	0.985;0.998;0.981;0.999;0.997;0.992	D;D;D;D;D;D	0.77004	0.955;0.948;0.925;0.989;0.987;0.98	D	0.87987	0.2747	10	0.66056	D	0.02	.	6.896	0.24257	0.1433:0.0:0.7161:0.1407	.	576;576;532;532;556;576	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	F	576;576;576;532;532	ENSP00000264485:L576F;ENSP00000393557:L576F;ENSP00000307349:L576F;ENSP00000422400:L532F;ENSP00000344272:L532F	ENSP00000264485:L576F	L	+	3	2	SLC4A4	72557376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.570000	0.60872	1.224000	0.43551	0.655000	0.94253	TTG		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		27	87	1	0	1.2476e-16	0.00632	2.03594e-16	27	87				
PPBP	5473	broad.mit.edu	37	4	74853810	74853810	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:74853810C>A	ENST00000296028.3	-	1	104	c.11G>T	c.(10-12)aGa>aTa	p.R4I		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	4					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGTATCAAGTCTGAGGCTCAT	0.537																																							uc003hhj.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(10-12)AGA>ATA		pro-platelet basic protein precursor							149.0	129.0	136.0					4																	74853810		2203	4300	6503	SO:0001583	missense	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853810C>A	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.11G>T	4.37:g.74853810C>A	ENSP00000296028:p.Arg4Ile						p.R4I	NM_002704	NP_002695	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		1	91	-	Breast(15;0.00136)		4					B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	c.11G>T	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728151	0.48833	.	.	ENSG00000163736	ENST00000296028	T	0.59502	0.26	2.56	1.7	0.24286	.	1.112690	0.07096	U	0.839578	T	0.52240	0.1722	N	0.08118	0	0.19945	N	0.999942	D	0.76494	0.999	D	0.64042	0.921	T	0.46541	-0.9184	10	0.87932	D	0	-4.001	5.1793	0.15152	0.0:0.8291:0.0:0.1709	.	4	P02775	CXCL7_HUMAN	I	4	ENSP00000296028:R4I	ENSP00000296028:R4I	R	-	2	0	PPBP	75072674	0.030000	0.19436	0.116000	0.21606	0.167000	0.22549	0.398000	0.20899	0.640000	0.30582	0.484000	0.47621	AGA		0.537	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		18	76	1	0	8.04996e-18	0.012319	1.34274e-17	18	76				
BMP2K	55589	broad.mit.edu	37	4	79792103	79792103	+	Silent	SNP	G	G	A	rs534035187	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:79792103G>A	ENST00000335016.5	+	11	1564	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BMP2K_ENST00000502871.1_Silent_p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	466	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcagcaacagc	0.547													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		11572	0.0		0.0	False		,,,				2504	0.0						uc003hlk.2		NA																	0				lung(1)	1						c.(1396-1398)CAG>CAA		BMP-2 inducible kinase isoform a							27.0	31.0	30.0					4																	79792103		2186	4237	6423	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792103G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1398G>A	4.37:g.79792103G>A						BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Silent_p.Q466Q|BMP2K_uc003hll.2_5'Flank	p.Q466Q	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			11	1564	+			466			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1398G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	1.548	-0.540072	0.04053	.	.	ENSG00000138756	ENST00000502613	.	.	.	3.26	0.0695	0.14374	.	.	.	.	.	T	0.52533	0.1740	.	.	.	0.45272	D	0.998274	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	-8.7742	6.241	0.20791	0.3659:0.1256:0.5085:0.0	.	.	.	.	T	159	.	.	A	+	1	0	BMP2K	80011127	1.000000	0.71417	0.031000	0.17742	0.025000	0.11179	0.486000	0.22340	-0.813000	0.04357	-1.509000	0.00949	GCA		0.547	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	32	0	0	0	0.009096	0	3	32				
ARHGAP24	83478	broad.mit.edu	37	4	86863276	86863276	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:86863276G>T	ENST00000395184.1	+	5	915	c.449G>T	c.(448-450)cGt>cTt	p.R150L	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R57L|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R55L|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.R150L	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	150	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TATGGGAACCGTCTGGCTCCG	0.453																																							uc003hpk.2		NA																	0					0						c.(448-450)CGT>CTT		Rho GTPase activating protein 24 isoform 1							90.0	88.0	89.0					4																	86863276		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86863276G>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.449G>T	4.37:g.86863276G>T	ENSP00000378611:p.Arg150Leu					ARHGAP24_uc003hpj.2_Missense_Mutation_p.R150L|ARHGAP24_uc003hpl.2_Missense_Mutation_p.R55L|ARHGAP24_uc010ikf.2_Missense_Mutation_p.R65L|ARHGAP24_uc003hpm.2_Missense_Mutation_p.R57L	p.R150L	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	5	898	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	150			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.449G>T	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897665	0.52121	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.98	4.14	0.48551	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.218305	0.51477	D	0.000091	T	0.44664	0.1304	L	0.50919	1.6	0.49687	D	0.999819	P;B;B;P	0.46706	0.883;0.142;0.062;0.664	P;B;B;B	0.52031	0.688;0.313;0.037;0.41	T	0.45234	-0.9275	10	0.87932	D	0	.	5.2361	0.15446	0.2746:0.0:0.5856:0.1398	.	55;57;150;150	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	L	150;150;55;55;24;65;57	ENSP00000378611:R150L;ENSP00000423206:R150L;ENSP00000426105:R55L;ENSP00000378610:R55L;ENSP00000424256:R24L;ENSP00000425589:R65L;ENSP00000264343:R57L	ENSP00000264343:R57L	R	+	2	0	ARHGAP24	87082300	0.993000	0.37304	0.989000	0.46669	0.960000	0.62799	2.559000	0.45888	1.458000	0.47871	0.650000	0.86243	CGT		0.453	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		10	37	1	0	1.76689e-08	0.006214	2.31765e-08	10	37				
HSP90AB3P	3327	broad.mit.edu	37	4	88813075	88813075	+	IGR	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:88813075C>A								MEPE (45106 upstream) : SPP1 (83743 downstream)																							TCATATCCCTCATCATCAATA	0.458																																							uc010iko.1		NA																	0					NA						c.(79-81)CTC>CTA		SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;																																				SO:0001628	intergenic_variant	0							g.chr4:88813075C>A																													4.37:g.88813075C>A							p.L27L							1	81	+									Silent	SNP		37	c.81C>A																																																																																				0	0.458									11	53	1	0	6.40141e-05	0.010729	7.33993e-05	11	53				
ANK2	287	broad.mit.edu	37	4	114153409	114153409	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:114153409T>A	ENST00000357077.4	+	5	530	c.477T>A	c.(475-477)gcT>gcA	p.A159A	ANK2_ENST00000394537.3_Silent_p.A159A|ANK2_ENST00000506722.1_Silent_p.A138A|ANK2_ENST00000264366.6_Silent_p.A159A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	159					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAGCACTGCTACAGAGGTAA	0.383																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(475-477)GCT>GCA		ankyrin 2 isoform 1							111.0	103.0	105.0					4																	114153409		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114153409T>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.477T>A	4.37:g.114153409T>A						ANK2_uc003ibd.3_Silent_p.A138A|ANK2_uc003ibf.3_Silent_p.A159A|ANK2_uc003ibc.2_Silent_p.A135A|ANK2_uc011cgb.1_Silent_p.A174A	p.A159A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	5	577	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	159					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.477T>A	CCDS3702.1																																																																																				0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	31	0	0	0	0.004482	0	8	31				
UGT8	7368	broad.mit.edu	37	4	115544068	115544068	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:115544068T>C	ENST00000310836.6	+	2	554	c.32T>C	c.(31-33)cTg>cCg	p.L11P	UGT8_ENST00000394511.3_Missense_Mutation_p.L11P	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	11					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTCATTCTCCTGTGGAGTGCT	0.403																																							uc003ibs.2		NA																	0				ovary(1)|skin(1)	2						c.(31-33)CTG>CCG		UDP-galactose-ceramide galactosyltransferase 8							71.0	70.0	70.0					4																	115544068		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544068T>C	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.32T>C	4.37:g.115544068T>C	ENSP00000311648:p.Leu11Pro					UGT8_uc003ibt.2_Missense_Mutation_p.L11P|UGT8_uc011cge.1_RNA	p.L11P	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	554	+		Ovarian(17;0.156)	11					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.32T>C	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932462	0.73442	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.66280	-0.2;1.57;-0.2	5.77	5.77	0.91146	.	0.229973	0.39274	N	0.001417	T	0.63522	0.2518	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.71052	-0.4704	10	0.52906	T	0.07	.	16.0847	0.81038	0.0:0.0:0.0:1.0	.	11	Q16880	CGT_HUMAN	P	11	ENSP00000311648:L11P;ENSP00000421446:L11P;ENSP00000378019:L11P	ENSP00000311648:L11P	L	+	2	0	UGT8	115763517	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.635000	0.67841	2.202000	0.70862	0.528000	0.53228	CTG		0.403	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		4	29	0	0	0	0.009096	0	4	29				
TMEM155	132332	broad.mit.edu	37	4	122681519	122681519	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:122681519G>A	ENST00000337677.5	-	6	881	c.323C>T	c.(322-324)cCa>cTa	p.P108L	TMEM155_ENST00000394394.1_Missense_Mutation_p.P108L|TMEM155_ENST00000394396.1_Missense_Mutation_p.P108L	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	108						extracellular region (GO:0005576)				breast(1)|lung(5)	6						aaaagttattgggctgctgag	0.463																																							uc003idx.1		NA																	0					0						c.(322-324)CCA>CTA		transmembrane protein 155 precursor							75.0	70.0	72.0					4																	122681519		2202	4300	6502	SO:0001583	missense	132332					extracellular region		g.chr4:122681519G>A	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.323C>T	4.37:g.122681519G>A	ENSP00000336987:p.Pro108Leu					TMEM155_uc003idy.1_Missense_Mutation_p.P108L	p.P108L	NM_152399	NP_689612	Q4W5P6	TM155_HUMAN			6	882	-			108					D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	c.323C>T	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069554	0.20147	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394	T;T;T	0.57595	0.39;0.39;0.39	3.58	0.717	0.18196	.	0.418615	0.17706	N	0.164764	T	0.32496	0.0831	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.15052	0.012	T	0.23048	-1.0199	10	0.87932	D	0	.	5.7634	0.18213	0.3868:0.0:0.6132:0.0	.	108	Q4W5P6	TM155_HUMAN	L	108	ENSP00000377919:P108L;ENSP00000336987:P108L;ENSP00000377917:P108L	ENSP00000336987:P108L	P	-	2	0	TMEM155	122900969	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.345000	0.19979	0.108000	0.17862	-0.355000	0.07637	CCA		0.463	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		4	11	0	0	0	0.009096	0	4	11				
KIAA1109	84162	broad.mit.edu	37	4	123226112	123226112	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:123226112G>A	ENST00000264501.4	+	56	10019	c.9646G>A	c.(9646-9648)Gca>Aca	p.A3216T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A3216T|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A3216T			Q2LD37	K1109_HUMAN	KIAA1109	3216					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTAAATCTGGCATTAGGACA	0.368																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(9646-9648)GCA>ACA		fragile site-associated protein							59.0	55.0	56.0					4																	123226112		1837	4079	5916	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123226112G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9646G>A	4.37:g.123226112G>A	ENSP00000264501:p.Ala3216Thr					KIAA1109_uc003iel.1_Missense_Mutation_p.A1151T	p.A3216T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			54	9691	+			3216					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.9646G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.553916|5.553916	0.96501|0.96501	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.30182|.	1.54;1.54;1.54|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68952|0.68952	0.3057|0.3057	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.69078|.	0.996;0.997|.	D;D|.	0.79784|.	0.993;0.989|.	T|T	0.62859|0.62859	-0.6765|-0.6765	10|5	0.66056|.	D|.	0.02|.	.|.	20.1006|20.1006	0.97874|0.97874	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3216;3216|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	T|D	3216|1173	ENSP00000264501:A3216T;ENSP00000373390:A3216T;ENSP00000389925:A3216T|.	ENSP00000264501:A3216T|.	A|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123445562|123445562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.713000|9.713000	0.98740|0.98740	2.757000|2.757000	0.94681|0.94681	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		6	56	0	0	0	0.00308	0	6	56				
NUDT6	11162	broad.mit.edu	37	4	123814181	123814181	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:123814181G>A	ENST00000304430.5	-	5	786	c.753C>T	c.(751-753)ctC>ctT	p.L251L	NUDT6_ENST00000608639.1_5'Flank|NUDT6_ENST00000339154.2_Silent_p.L82L|NUDT6_ENST00000502270.1_Silent_p.L82L|FGF2_ENST00000264498.3_3'UTR|FGF2_ENST00000608478.1_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	251	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCAGGTCATTGAGATCCATCC	0.433																																							uc003iew.2		NA																	0					0						c.(751-753)CTC>CTT		nudix-type motif 6 isoform a							135.0	127.0	130.0					4																	123814181		2203	4300	6503	SO:0001819	synonymous_variant	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123814181G>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.753C>T	4.37:g.123814181G>A						FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Silent_p.L82L	p.L251L	NM_007083	NP_009014	P53370	NUDT6_HUMAN			5	785	-			251			Nudix hydrolase.		A8K756|O95097|Q9UQD9	Silent	SNP	ENST00000304430.5	37	c.753C>T	CCDS43268.1																																																																																				0.433	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		6	92	0	0	0	0.001168	0	6	92				
PCDH10	57575	broad.mit.edu	37	4	134073227	134073227	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:134073227C>A	ENST00000264360.5	+	1	2758	c.1932C>A	c.(1930-1932)gtC>gtA	p.V644V	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACGCCGAGTCCCGGCCAAGC	0.667																																							uc003iha.2		NA																	0				ovary(2)	2						c.(1930-1932)GTC>GTA		protocadherin 10 isoform 1 precursor							26.0	30.0	29.0					4																	134073227		2187	4278	6465	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073227C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1932C>A	4.37:g.134073227C>A						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.V644V	p.V644V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2758	+			644			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1932C>A	CCDS34063.1																																																																																				0.667	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		18	47	1	0	1.15919e-05	0.008871	1.37281e-05	18	47				
NAA15	80155	broad.mit.edu	37	4	140299929	140299929	+	Silent	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:140299929A>G	ENST00000296543.5	+	17	2399	c.2076A>G	c.(2074-2076)ctA>ctG	p.L692L	NAA15_ENST00000398947.1_Silent_p.L692L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	692	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTTGATGCTACAATCAGTAA	0.343																																							uc003ihu.1		NA																	0				ovary(1)|skin(1)	2						c.(2074-2076)CTA>CTG		NMDA receptor regulated 1							174.0	148.0	156.0					4																	140299929		1802	4077	5879	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140299929A>G	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2076A>G	4.37:g.140299929A>G							p.L692L	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			17	2332	+			692			TPR 8.		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.2076A>G	CCDS43270.1																																																																																				0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		9	39	0	0	0	0.006214	0	9	39				
FGB	2244	broad.mit.edu	37	4	155490699	155490699	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:155490699A>T	ENST00000302068.4	+	7	1055	c.992A>T	c.(991-993)cAg>cTg	p.Q331L	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.Q112L	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	331	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAAATTAGCCAGCTTACCAGG	0.353																																					NSCLC(106;1133 1613 21870 46110 52656)	NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(991-993)CAG>CTG		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						69.0	72.0	71.0					4																	155490699		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490699A>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.992A>T	4.37:g.155490699A>T	ENSP00000306099:p.Gln331Leu					FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.Q269L|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.Q112L	p.Q331L	NM_005141	NP_005132	P02675	FIBB_HUMAN			7	1031	+	all_hematologic(180;0.215)	Renal(120;0.0458)	331			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.992A>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	A	9.266	1.044514	0.19748	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.76060	-0.99;-0.99	5.53	5.53	0.82687	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.049935	0.85682	D	0.000000	T	0.64382	0.2593	L	0.37630	1.12	0.80722	D	1	P;B	0.51240	0.943;0.067	B;B	0.43809	0.432;0.036	T	0.65307	-0.6200	10	0.02654	T	1	.	15.9509	0.79835	1.0:0.0:0.0:0.0	.	314;331	B4E1D3;P02675	.;FIBB_HUMAN	L	331;314;112	ENSP00000306099:Q331L;ENSP00000426757:Q112L	ENSP00000306099:Q331L	Q	+	2	0	FGB	155710149	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.123000	0.77176	2.225000	0.72522	0.533000	0.62120	CAG		0.353	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		13	61	0	0	0	0.001855	0	13	61				
FAM198B	51313	broad.mit.edu	37	4	159091673	159091673	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:159091673G>T	ENST00000296530.8	-	2	1476	c.855C>A	c.(853-855)atC>atA	p.I285I	RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Silent_p.I285I|FAM198B_ENST00000592057.1_Silent_p.I285I|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Silent_p.I285I|RP11-597D13.9_ENST00000505532.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	285						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGAGCCCCAGGATCCTGTCTA	0.567											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003ipp.3		NA																	0					0						c.(853-855)ATC>ATA		hypothetical protein LOC51313 isoform 2							63.0	69.0	67.0					4																	159091673		2203	4300	6503	SO:0001819	synonymous_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091673G>T		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.855C>A	4.37:g.159091673G>T			OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Silent_p.I285I|FAM198B_uc003ipr.3_Silent_p.I285I|FAM198B_uc003ips.2_Silent_p.I285I|uc003ipt.1_5'Flank	p.I285I	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN			2	1307	-			285			Extracellular (Potential).		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.855C>A	CCDS3798.1																																																																																				0.567	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		21	73	1	0	1.22574e-08	0.014323	1.63104e-08	21	73				
ADAM29	11086	broad.mit.edu	37	4	175896699	175896699	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:175896699A>T	ENST00000359240.3	+	5	693	c.23A>T	c.(22-24)cAt>cTt	p.H8L	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.H8L|ADAM29_ENST00000445694.1_Missense_Mutation_p.H8L|ADAM29_ENST00000514159.1_Missense_Mutation_p.H8L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	8					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCCTGCTGCATTGCCTTGGG	0.493																																					Ovarian(140;1727 1835 21805 25838 41440)	Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(22-24)CAT>CTT		ADAM metallopeptidase domain 29 preproprotein							127.0	126.0	127.0					4																	175896699		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896699A>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.23A>T	4.37:g.175896699A>T	ENSP00000352177:p.His8Leu					ADAM29_uc003iud.2_Missense_Mutation_p.H8L|ADAM29_uc010irr.2_Missense_Mutation_p.H8L|ADAM29_uc011cki.1_Missense_Mutation_p.H8L	p.H8L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	693	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	8					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.23A>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	7.696	0.691994	0.15039	.	.	ENSG00000168594	ENST00000505141;ENST00000359240;ENST00000445694;ENST00000502940;ENST00000502305;ENST00000404450;ENST00000514159	T;T;T;T;T;T	0.40225	4.72;4.72;1.2;1.04;4.72;4.72	4.36	-1.86	0.07760	.	.	.	.	.	T	0.17874	0.0429	N	0.16368	0.405	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31586	-0.9938	9	0.02654	T	1	.	4.7448	0.13031	0.3583:0.3255:0.0:0.3162	.	8	Q9UKF5	ADA29_HUMAN	L	8	ENSP00000352177:H8L;ENSP00000414544:H8L;ENSP00000427674:H8L;ENSP00000422537:H8L;ENSP00000384229:H8L;ENSP00000423517:H8L	ENSP00000352177:H8L	H	+	2	0	ADAM29	176133274	0.000000	0.05858	0.002000	0.10522	0.053000	0.15095	-0.740000	0.04861	-0.025000	0.13918	0.519000	0.50382	CAT		0.493	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				13	74	0	0	0	0.00499	0	13	74				
VEGFC	7424	broad.mit.edu	37	4	177608410	177608410	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:177608410G>T	ENST00000280193.2	-	6	1491	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	359	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACATTCACAGGCACATTTTCC	0.408																																							uc003ius.1		NA																	0				lung(5)	5						c.(1075-1077)GCC>GAC		vascular endothelial growth factor C							253.0	228.0	236.0					4																	177608410		1849	4099	5948	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608410G>T	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1076C>A	4.37:g.177608410G>T	ENSP00000280193:p.Ala359Asp						p.A359D	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1506	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	359			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|4.		B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.1076C>A	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798676	0.50208	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.62	2.96	0.34315	.	0.364664	0.29730	N	0.011359	T	0.34424	0.0897	L	0.43152	1.355	0.37161	D	0.90257	P	0.42409	0.779	B	0.36030	0.216	T	0.35251	-0.9796	9	0.54805	T	0.06	-1.1545	7.7962	0.29148	0.3579:0.0:0.6421:0.0	.	359	P49767	VEGFC_HUMAN	D	359	.	ENSP00000280193:A359D	A	-	2	0	VEGFC	177845404	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	0.969000	0.29370	0.727000	0.32360	-0.140000	0.14226	GCC		0.408	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		38	145	1	0	8.20599e-20	0.011902	1.39116e-19	38	145				
CEP72	55722	broad.mit.edu	37	5	640713	640713	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:640713G>T	ENST00000264935.5	+	9	1623	c.1533G>T	c.(1531-1533)aaG>aaT	p.K511N	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	511					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ACACACACAAGGAGCTGGTGA	0.622																																							uc003jbf.2		NA																	0				ovary(1)	1						c.(1531-1533)AAG>AAT		centrosomal protein 72 kDa							40.0	43.0	42.0					5																	640713		2203	4299	6502	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:640713G>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1533G>T	5.37:g.640713G>T	ENSP00000264935:p.Lys511Asn						p.K511N	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		9	1605	+			511			Potential.		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.1533G>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	G	8.573	0.880410	0.17467	.	.	ENSG00000112877	ENST00000264935	T	0.41758	0.99	5.02	-2.07	0.07276	.	0.696078	0.14957	N	0.288585	T	0.26991	0.0661	L	0.41236	1.265	0.46149	D	0.998898	B	0.26512	0.151	B	0.26416	0.069	T	0.04737	-1.0930	10	0.30854	T	0.27	-8.5493	5.6777	0.17757	0.4557:0.1398:0.4045:0.0	.	511	Q9P209	CEP72_HUMAN	N	511	ENSP00000264935:K511N	ENSP00000264935:K511N	K	+	3	2	CEP72	693713	0.049000	0.20398	0.062000	0.19696	0.128000	0.20619	-0.015000	0.12634	-0.221000	0.09973	0.561000	0.74099	AAG		0.622	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		11	41	1	0	1.58986e-06	0.008291	1.94395e-06	11	41				
SLC6A19	340024	broad.mit.edu	37	5	1216921	1216921	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:1216921T>A	ENST00000304460.10	+	8	1090	c.1034T>A	c.(1033-1035)aTc>aAc	p.I345N		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	345					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGACCCTCATCAACGGGTTC	0.657																																							uc003jbw.3		NA																	0					0						c.(1033-1035)ATC>AAC		solute carrier family 6, member 19							123.0	108.0	113.0					5																	1216921		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216921T>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1034T>A	5.37:g.1216921T>A	ENSP00000305302:p.Ile345Asn						p.I345N	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1090	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		345			Extracellular (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1034T>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699531	0.30142	.	.	ENSG00000174358	ENST00000304460	T	0.74842	-0.88	4.85	3.71	0.42584	.	0.478689	0.24838	N	0.035191	T	0.75302	0.3831	L	0.56769	1.78	0.35497	D	0.799475	P	0.36222	0.544	P	0.48524	0.58	T	0.80455	-0.1375	10	0.59425	D	0.04	.	5.9735	0.19365	0.0:0.2147:0.0:0.7853	.	345	Q695T7	S6A19_HUMAN	N	345	ENSP00000305302:I345N	ENSP00000305302:I345N	I	+	2	0	SLC6A19	1269921	0.978000	0.34361	0.980000	0.43619	0.167000	0.22549	1.765000	0.38481	1.817000	0.53016	0.402000	0.26972	ATC		0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		23	184	0	0	0	0.00278	0	23	184				
PAPD7	11044	broad.mit.edu	37	5	6751171	6751171	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:6751171G>T	ENST00000230859.6	+	11	1259	c.1130G>T	c.(1129-1131)tGc>tTc	p.C377F		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	607					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACACCGCCCTGCACAACGCCC	0.522																																					NSCLC(7;212 333 5667 23379 46547)	NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1		NA																	0				ovary(1)	1						c.(1129-1131)TGC>TTC		DNA polymerase sigma							143.0	143.0	143.0					5																	6751171		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6751171G>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1130G>T	5.37:g.6751171G>T	ENSP00000230859:p.Cys377Phe					PAPD7_uc011cmn.1_Missense_Mutation_p.C368F|PAPD7_uc010itl.1_Missense_Mutation_p.C197F	p.C377F	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			11	1259	+			377					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1130G>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803960	0.50315	.	.	ENSG00000112941	ENST00000230859	T	0.33216	1.42	5.8	4.92	0.64577	.	0.150319	0.64402	D	0.000008	T	0.28665	0.0710	L	0.53249	1.67	0.40497	D	0.980603	P;P	0.35575	0.51;0.51	B;B	0.31495	0.131;0.131	T	0.06267	-1.0836	10	0.29301	T	0.29	-7.8733	14.5067	0.67758	0.0:0.0:0.8533:0.1467	.	377;377	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	F	377	ENSP00000230859:C377F	ENSP00000230859:C377F	C	+	2	0	PAPD7	6804171	1.000000	0.71417	0.934000	0.37439	0.904000	0.53231	5.383000	0.66219	1.412000	0.46977	0.650000	0.86243	TGC		0.522	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		25	184	1	0	1.22384e-17	0.013726	2.02912e-17	25	184				
TAS2R1	50834	broad.mit.edu	37	5	9630012	9630012	+	Missense_Mutation	SNP	C	C	A	rs201583253		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:9630012C>A	ENST00000382492.2	-	1	451	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	45					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGAAGGAGATCCAGCGGAGCC	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		15953	0.001		0.0	False		,,,				2504	0.0						uc003jem.1		NA																	0				ovary(3)	3						c.(133-135)GAT>TAT		taste receptor T2R1							54.0	58.0	57.0					5																	9630012		2202	4300	6502	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9630012C>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.133G>T	5.37:g.9630012C>A	ENSP00000371932:p.Asp45Tyr						p.D45Y	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	452	-			45			Cytoplasmic (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.133G>T	CCDS3876.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.07	2.426220	0.43020	.	.	ENSG00000169777	ENST00000382492	T	0.01252	5.1	5.32	2.59	0.31030	.	0.203537	0.39020	N	0.001484	T	0.08044	0.0201	M	0.88906	2.99	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.06267	-1.0836	9	.	.	.	.	7.2021	0.25887	0.0:0.7057:0.1404:0.1539	.	45	Q9NYW7	TA2R1_HUMAN	Y	45	ENSP00000371932:D45Y	.	D	-	1	0	TAS2R1	9683012	0.013000	0.17824	0.002000	0.10522	0.001000	0.01503	1.748000	0.38308	0.384000	0.24942	-0.793000	0.03317	GAT		0.383	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			14	86	1	0	1.45105e-14	0.006122	2.26539e-14	14	86				
DAP	1611	broad.mit.edu	37	5	10681215	10681215	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:10681215T>A	ENST00000230895.6	-	4	465	c.262A>T	c.(262-264)Aag>Tag	p.K88*	DAP_ENST00000432074.2_Silent_p.T73T	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	88					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cellular response to amino acid starvation (GO:0034198)|negative regulation of autophagy (GO:0010507)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)		death domain binding (GO:0070513)			endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				GAAGGATGCTTGTCCATGGAG	0.597																																							uc003jez.3		NA																	0					0						c.(262-264)AAG>TAG		death-associated protein							101.0	81.0	88.0					5																	10681215		2203	4300	6503	SO:0001587	stop_gained	1611				activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding	g.chr5:10681215T>A	X76105	CCDS3880.1	5p15.2	2008-07-18			ENSG00000112977	ENSG00000112977			2672	protein-coding gene	gene with protein product		600954				8530096, 7828849	Standard	NM_004394		Approved		uc003jez.4	P51397	OTTHUMG00000131041	ENST00000230895.6:c.262A>T	5.37:g.10681215T>A	ENSP00000230895:p.Lys88*					DAP_uc011cmw.1_Silent_p.T73T	p.K88*	NM_004394	NP_004385	P51397	DAP1_HUMAN			4	469	-		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)	88					Q6FGC3|Q9BUC9	Nonsense_Mutation	SNP	ENST00000230895.6	37	c.262A>T	CCDS3880.1	.	.	.	.	.	.	.	.	.	.	T	31	5.074077	0.94000	.	.	ENSG00000112977	ENST00000230895	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.4596	13.5893	0.61951	0.0:0.0:0.0:1.0	.	.	.	.	X	88	.	ENSP00000230895:K88X	K	-	1	0	DAP	10734215	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	5.414000	0.66405	1.861000	0.53984	0.533000	0.62120	AAG		0.597	DAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253687.1	NM_004394		4	17	0	0	0	0.009096	0	4	17				
CDH10	1008	broad.mit.edu	37	5	24509859	24509859	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:24509859G>T	ENST00000264463.4	-	7	1579	c.1072C>A	c.(1072-1074)Cgt>Agt	p.R358S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	358	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAATAAAAACGGGGATCTACA	0.368										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1072-1074)CGT>AGT		cadherin 10, type 2 preproprotein							72.0	75.0	74.0					5																	24509859		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509859G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1072C>A	5.37:g.24509859G>T	ENSP00000264463:p.Arg358Ser	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R358S	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1404	-			358			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1072C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259807	0.59321	.	.	ENSG00000040731	ENST00000264463	T	0.53640	0.61	5.03	4.09	0.47781	Cadherin (4);Cadherin-like (1);	0.164072	0.52532	D	0.000066	T	0.62405	0.2425	M	0.75447	2.3	0.09310	N	1	D	0.57899	0.981	P	0.58780	0.845	T	0.56226	-0.8014	10	0.49607	T	0.09	.	13.611	0.62078	0.0:0.0:0.8445:0.1555	.	358	Q9Y6N8	CAD10_HUMAN	S	358	ENSP00000264463:R358S	ENSP00000264463:R358S	R	-	1	0	CDH10	24545616	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	4.117000	0.57877	2.502000	0.84385	0.561000	0.74099	CGT		0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		26	31	1	0	9.90768e-06	0.004656	1.1801e-05	26	31				
CDH9	1007	broad.mit.edu	37	5	26886125	26886125	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:26886125G>T	ENST00000231021.4	-	10	1752	c.1580C>A	c.(1579-1581)cCa>cAa	p.P527Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	527	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCTGGCACTGGTTCAAAAAA	0.308																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1579-1581)CCA>CAA		cadherin 9, type 2 preproprotein							75.0	85.0	82.0					5																	26886125		2202	4300	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886125G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1580C>A	5.37:g.26886125G>T	ENSP00000231021:p.Pro527Gln					CDH9_uc011cnv.1_Missense_Mutation_p.P120Q	p.P527Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			10	1749	-			527			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1580C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652189	0.47362	.	.	ENSG00000113100	ENST00000231021	T	0.50001	0.76	5.76	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.565897	0.18655	N	0.134896	T	0.24353	0.0590	N	0.08118	0	0.28120	N	0.930644	B;B	0.14012	0.004;0.009	B;B	0.23018	0.026;0.043	T	0.16453	-1.0402	9	.	.	.	.	5.5798	0.17243	0.1493:0.0:0.681:0.1697	.	120;527	B4DFP0;Q9ULB4	.;CADH9_HUMAN	Q	527	ENSP00000231021:P527Q	.	P	-	2	0	CDH9	26921882	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.296000	0.65698	1.403000	0.46800	0.467000	0.42956	CCA		0.308	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		16	182	1	0	5.26018e-13	0.012319	7.98661e-13	16	182				
ADAMTS12	81792	broad.mit.edu	37	5	33549360	33549360	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:33549360G>T	ENST00000504830.1	-	21	4589	c.4254C>A	c.(4252-4254)agC>agA	p.S1418R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1333R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1418	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGGGTTACAGCTCATGCTCA	0.607										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4252-4254)AGC>AGA		ADAM metallopeptidase with thrombospondin type 1							63.0	63.0	63.0					5																	33549360		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549360G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4254C>A	5.37:g.33549360G>T	ENSP00000422554:p.Ser1418Arg	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1333R	p.S1418R	NM_030955	NP_112217	P58397	ATS12_HUMAN			21	4417	-			1418			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4254C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582030	0.65992	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61040	0.14;0.14	5.37	4.3	0.51218	.	0.412660	0.28349	N	0.015668	T	0.52386	0.1731	L	0.52011	1.625	0.80722	D	1	P;P	0.47677	0.899;0.838	P;B	0.45681	0.49;0.296	T	0.43845	-0.9366	10	0.16420	T	0.52	.	11.9159	0.52765	0.0987:0.0:0.9013:0.0	.	1333;1418	P58397-3;P58397	.;ATS12_HUMAN	R	1418;1333	ENSP00000422554:S1418R;ENSP00000344847:S1333R	ENSP00000344847:S1333R	S	-	3	2	ADAMTS12	33585117	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	1.416000	0.34759	2.508000	0.84585	0.650000	0.86243	AGC		0.607	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		12	97	1	0	0.000219431	0.00245	0.000246155	12	97				
RICTOR	253260	broad.mit.edu	37	5	39003687	39003687	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:39003687C>G	ENST00000357387.3	-	4	263	c.233G>C	c.(232-234)gGc>gCc	p.G78A	RICTOR_ENST00000296782.5_Missense_Mutation_p.G78A	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATAGTGAAAGCCCAGTTTTTC	0.313																																							uc003jlp.2		NA																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(232-234)GGC>GCC		rapamycin-insensitive companion of mTOR							91.0	92.0	91.0					5																	39003687		2203	4299	6502	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:39003687C>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.233G>C	5.37:g.39003687C>G	ENSP00000349959:p.Gly78Ala					RICTOR_uc003jlo.2_Missense_Mutation_p.G78A|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.G62A|RICTOR_uc011cpk.1_Missense_Mutation_p.G78A	p.G78A	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			4	257	-	all_lung(31;0.000396)		78						Missense_Mutation	SNP	ENST00000357387.3	37	c.233G>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728298	0.89390	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T;T	0.63580	-0.05;-0.05;-0.05	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.87578	0.996;0.975;0.981;0.998	T	0.81077	-0.1096	10	0.87932	D	0	-16.9484	19.1802	0.93620	0.0:1.0:0.0:0.0	.	78;78;78;78	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	A	78;78;62	ENSP00000349959:G78A;ENSP00000296782:G78A;ENSP00000423162:G62A	ENSP00000296782:G78A	G	-	2	0	RICTOR	39039444	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.228000	0.78079	2.707000	0.92482	0.650000	0.86243	GGC		0.313	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		13	112	0	0	0	0.004007	0	13	112				
DAB2	1601	broad.mit.edu	37	5	39394384	39394384	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:39394384C>G	ENST00000320816.6	-	2	506	c.39G>C	c.(37-39)caG>caC	p.Q13H	DAB2_ENST00000339788.6_Missense_Mutation_p.Q13H|DAB2_ENST00000545653.1_Missense_Mutation_p.Q13H|DAB2_ENST00000509337.1_Missense_Mutation_p.Q13H|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	13					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTGGTCGGGCTGACCATTGG	0.502																																							uc003jlx.2		NA																	0				kidney(2)|skin(1)	3						c.(37-39)CAG>CAC		disabled homolog 2							168.0	147.0	154.0					5																	39394384		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39394384C>G	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.39G>C	5.37:g.39394384C>G	ENSP00000313391:p.Gln13His					DAB2_uc003jlw.2_Missense_Mutation_p.Q13H	p.Q13H	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		2	570	-	all_lung(31;0.000197)		13					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.39G>C	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510516	0.44660	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337;ENST00000511792;ENST00000503513;ENST00000515700	T;T;T;T	0.38401	1.14;1.16;1.14;1.14	5.87	4.01	0.46588	.	0.432576	0.26979	N	0.021539	T	0.47303	0.1438	L	0.44542	1.39	0.40318	D	0.978791	D;D	0.67145	0.996;0.995	D;P	0.64506	0.926;0.861	T	0.45131	-0.9282	10	0.72032	D	0.01	-6.5545	11.428	0.50022	0.0:0.8049:0.1269:0.0682	.	13;13	P98082;P98082-3	DAB2_HUMAN;.	H	13	ENSP00000313391:Q13H;ENSP00000345508:Q13H;ENSP00000439919:Q13H;ENSP00000426245:Q13H	ENSP00000313391:Q13H	Q	-	3	2	DAB2	39430141	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	1.945000	0.40273	2.782000	0.95742	0.561000	0.74099	CAG		0.502	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		38	59	0	0	0	0.007835	0	38	59				
NNT	23530	broad.mit.edu	37	5	43656846	43656846	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:43656846C>T	ENST00000264663.5	+	16	2606	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	NNT_ENST00000512996.2_Silent_p.F664F|NNT_ENST00000344920.4_Silent_p.F795F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	795					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TAATCCCATTCATGGTGGACC	0.498																																							uc003joe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2383-2385)TTC>TTT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						206.0	177.0	187.0					5																	43656846		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43656846C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2385C>T	5.37:g.43656846C>T						NNT_uc003jof.2_Silent_p.F795F	p.F795F	NM_012343	NP_036475	Q13423	NNTM_HUMAN			16	2640	+	Lung NSC(6;2.58e-06)		795			Helical; (Potential).		Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.2385C>T	CCDS3949.1																																																																																				0.498	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		10	144	0	0	0	0.008291	0	10	144				
HCN1	348980	broad.mit.edu	37	5	45262383	45262383	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:45262383C>G	ENST00000303230.4	-	8	2370	c.2313G>C	c.(2311-2313)acG>acC	p.T771T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	771					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAAGCGCCTGCGTGCTCTTGT	0.632																																							uc003jok.2		NA																	0				ovary(1)	1						c.(2311-2313)ACG>ACC		hyperpolarization activated cyclic							77.0	75.0	76.0					5																	45262383		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262383C>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2313G>C	5.37:g.45262383C>G							p.T771T	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2338	-			771			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2313G>C	CCDS3952.1																																																																																				0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		51	53	0	0	0	0.01441	0	51	53				
CENPH	64946	broad.mit.edu	37	5	68505620	68505620	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:68505620G>T	ENST00000283006.2	+	9	825	c.738G>T	c.(736-738)atG>atT	p.M246I	CENPH_ENST00000515001.1_Missense_Mutation_p.M227I	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		ATGTTGACATGATGTAATAAG	0.353																																							uc003jvp.2		NA																	0				large_intestine(1)	1						c.(736-738)ATG>ATT		centromere protein H							95.0	96.0	96.0					5																	68505620		2203	4299	6502	SO:0001583	missense	64946				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding	g.chr5:68505620G>T	AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.738G>T	5.37:g.68505620G>T	ENSP00000283006:p.Met246Ile					CENPH_uc010ixc.2_Missense_Mutation_p.M227I	p.M246I	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)	9	825	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	246						Missense_Mutation	SNP	ENST00000283006.2	37	c.738G>T	CCDS3998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.823|8.823	0.938039|0.938039	0.18206|0.18206	.|.	.|.	ENSG00000153044|ENSG00000153044	ENST00000502689|ENST00000283006;ENST00000515001	.|.	.|.	.|.	5.25|5.25	1.48|1.48	0.22813|0.22813	.|.	.|1.347490	.|0.04447	.|N	.|0.371882	T|T	0.27489|0.27489	0.0675|0.0675	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25105	.|0.118;0.118	.|B;B	.|0.19666	.|0.026;0.026	T|T	0.15407|0.15407	-1.0438|-1.0438	5|9	.|0.08179	.|T	.|0.78	-8.4258|-8.4258	8.5426|8.5426	0.33402|0.33402	0.3154:0.0:0.6846:0.0|0.3154:0.0:0.6846:0.0	.|.	.|227;246	.|B3KVZ3;Q9H3R5	.|.;CENPH_HUMAN	Y|I	186|246;227	.|.	.|ENSP00000283006:M246I	D|M	+|+	1|3	0|0	CENPH|CENPH	68541376|68541376	0.004000|0.004000	0.15560|0.15560	0.001000|0.001000	0.08648|0.08648	0.038000|0.038000	0.13279|0.13279	0.122000|0.122000	0.15687|0.15687	0.153000|0.153000	0.19213|0.19213	-0.150000|-0.150000	0.13652|0.13652	GAT|ATG		0.353	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1			8	22	1	0	3.86212e-05	0.008291	4.46541e-05	8	22				
ACOT12	134526	broad.mit.edu	37	5	80631601	80631601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:80631601C>T	ENST00000307624.3	-	12	1276	c.1248G>A	c.(1246-1248)tgG>tgA	p.W416*	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	416	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AATGGGGGTCCCACAAAGGTC	0.393																																							uc003khl.3		NA																	0				ovary(1)|kidney(1)	2						c.(1246-1248)TGG>TGA		acyl-CoA thioesterase 12							82.0	92.0	89.0					5																	80631601		2203	4300	6503	SO:0001587	stop_gained	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80631601C>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1248G>A	5.37:g.80631601C>T	ENSP00000303246:p.Trp416*					RNU5E_uc011cto.1_Intron	p.W416*	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	12	1303	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	416			START.		B3KVK9|Q5FWE9	Nonsense_Mutation	SNP	ENST00000307624.3	37	c.1248G>A	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	38	7.170238	0.98111	.	.	ENSG00000172497	ENST00000307624	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.015	16.3452	0.83126	0.0:1.0:0.0:0.0	.	.	.	.	X	416	.	ENSP00000303246:W416X	W	-	3	0	ACOT12	80667357	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.219000	0.58561	2.526000	0.85167	0.561000	0.74099	TGG		0.393	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		15	41	0	0	0	0.00499	0	15	41				
SEMA6A	57556	broad.mit.edu	37	5	115782695	115782695	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:115782695G>A	ENST00000343348.6	-	19	3494	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Missense_Mutation_p.R282W|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.R380W|SEMA6A_ENST00000510263.1_Missense_Mutation_p.R903W|SEMA6A_ENST00000513137.1_Missense_Mutation_p.R330W|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R920W	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	903					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATTTCCAGCCGCTTGCTTAGA	0.612																																							uc010jck.2		NA																	0				ovary(2)	2						c.(2707-2709)CGG>TGG		sema domain, transmembrane domain (TM), and							70.0	77.0	75.0					5																	115782695		1937	4140	6077	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782695G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2707C>T	5.37:g.115782695G>A	ENSP00000345512:p.Arg903Trp					SEMA6A_uc003krx.3_Missense_Mutation_p.R920W|SEMA6A_uc011cwe.1_Missense_Mutation_p.R282W|SEMA6A_uc003krv.3_Missense_Mutation_p.R330W|SEMA6A_uc003krw.3_Missense_Mutation_p.R380W|SEMA6A_uc010jcj.2_Missense_Mutation_p.R447W	p.R903W	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3416	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	903			Cytoplasmic (Potential).		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2707C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867639	0.51588	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	T;T;T;T;T;T	0.72394	0.87;0.86;-0.65;1.3;-0.52;0.87	5.22	4.34	0.51931	.	0.460516	0.20499	N	0.091128	T	0.81541	0.4844	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.999;0.999;0.997	T	0.83037	-0.0159	10	0.87932	D	0	.	14.9863	0.71351	0.0:0.0:0.8566:0.1434	.	282;903;447;920;380;330	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.;SEM6A_HUMAN;.;.;.;.	W	903;920;330;380;282;903	ENSP00000345512:R903W;ENSP00000257414:R920W;ENSP00000422997:R330W;ENSP00000282394:R380W;ENSP00000425364:R282W;ENSP00000424388:R903W	ENSP00000257414:R920W	R	-	1	2	SEMA6A	115810594	1.000000	0.71417	0.997000	0.53966	0.765000	0.43378	6.227000	0.72282	1.171000	0.42768	0.563000	0.77884	CGG		0.612	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		3	65	0	0	0	0.009096	0	3	65				
SLC27A6	28965	broad.mit.edu	37	5	128324337	128324337	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:128324337G>T	ENST00000262462.4	+	3	1740	c.730G>T	c.(730-732)Ggt>Tgt	p.G244C	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G244C|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G244C			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	244					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GGTTTTAAGGGGTTCTGCTGT	0.398																																							uc003kuy.2		NA																	0					0						c.(730-732)GGT>TGT		solute carrier family 27 (fatty acid							209.0	209.0	209.0					5																	128324337		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128324337G>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.730G>T	5.37:g.128324337G>T	ENSP00000262462:p.Gly244Cys					SLC27A6_uc003kuz.2_Missense_Mutation_p.G244C	p.G244C	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	4	1126	+		all_cancers(142;0.0483)|Prostate(80;0.055)	244					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.730G>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	3.263	-0.150721	0.06585	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.49139	2.8;0.79;0.79;0.79	4.18	2.28	0.28536	AMP-dependent synthetase/ligase (1);	0.346540	0.32753	N	0.005693	T	0.42877	0.1222	L	0.57130	1.785	0.09310	N	0.999999	B	0.15141	0.012	B	0.27262	0.078	T	0.34625	-0.9821	9	.	.	.	-12.8072	10.6006	0.45365	0.1686:0.0:0.8314:0.0	.	244	Q9Y2P4	S27A6_HUMAN	C	63;244;244;244	ENSP00000421759:G63C;ENSP00000262462:G244C;ENSP00000378684:G244C;ENSP00000421024:G244C	.	G	+	1	0	SLC27A6	128352236	0.107000	0.21998	0.001000	0.08648	0.069000	0.16628	1.976000	0.40579	0.649000	0.30751	-0.140000	0.14226	GGT		0.398	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		26	44	1	0	7.38237e-10	0.00632	1.02e-09	26	44				
CAMLG	819	broad.mit.edu	37	5	134074471	134074471	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:134074471G>A	ENST00000297156.2	+	1	281	c.161G>A	c.(160-162)gGg>gAg	p.G54E	CAMLG_ENST00000514518.1_Missense_Mutation_p.G54E	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	54					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	CACAGGCCCGGGAGCGGCGCG	0.617																																							uc003kzt.2		NA																	0					0						c.(160-162)GGG>GAG		calcium modulating ligand	Cyclosporine(DB00091)						33.0	34.0	34.0					5																	134074471		2203	4300	6503	SO:0001583	missense	819				defense response	endoplasmic reticulum|integral to membrane		g.chr5:134074471G>A	AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.161G>A	5.37:g.134074471G>A	ENSP00000297156:p.Gly54Glu					CAMLG_uc003kzu.2_Missense_Mutation_p.G54E	p.G54E	NM_001745	NP_001736	P49069	CAMLG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	266	+			54			Cytoplasmic (Potential).		A1L3Y3	Missense_Mutation	SNP	ENST00000297156.2	37	c.161G>A	CCDS4178.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205078	0.58234	.	.	ENSG00000164615	ENST00000297156;ENST00000514518	T;T	0.31247	1.5;1.5	5.54	3.7	0.42460	.	0.490245	0.22730	N	0.056326	T	0.38746	0.1052	L	0.56769	1.78	0.43489	D	0.995723	P;P	0.50272	0.933;0.926	P;P	0.50352	0.638;0.585	T	0.16364	-1.0405	10	0.66056	D	0.02	-6.5214	10.3517	0.43939	0.0713:0.3855:0.5432:0.0	.	54;54	D6RIW3;P49069	.;CAMLG_HUMAN	E	54	ENSP00000297156:G54E;ENSP00000427331:G54E	ENSP00000297156:G54E	G	+	2	0	CAMLG	134102370	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	0.853000	0.27777	0.657000	0.30906	-0.502000	0.04539	GGG		0.617	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251161.1	NM_001745		6	26	0	0	0	0.00308	0	6	26				
PCDHB1	29930	broad.mit.edu	37	5	140433173	140433173	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:140433173C>T	ENST00000306549.3	+	1	2195	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTCTGTCATAGTGATCT	0.348																																							uc003lik.1		NA																	0					0						c.(2116-2118)GTC>GTT		protocadherin beta 1 precursor							129.0	132.0	131.0					5																	140433173		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433173C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2118C>T	5.37:g.140433173C>T							p.V706V	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2195	+			706			Helical; (Potential).		Q2M257	Silent	SNP	ENST00000306549.3	37	c.2118C>T	CCDS4243.1																																																																																				0.348	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		7	85	0	0	0	0.001984	0	7	85				
PCDHB16	57717	broad.mit.edu	37	5	140564276	140564276	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:140564276C>T	ENST00000361016.2	+	1	3297	c.2142C>T	c.(2140-2142)tgC>tgT	p.C714C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	714					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGCTGTGCAGGAGGAGCA	0.677																																							uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2140-2142)TGC>TGT		protocadherin beta 16 precursor							62.0	73.0	69.0					5																	140564276		2199	4289	6488	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.chr5:140564276C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2142C>T	5.37:g.140564276C>T						PCDHB9_uc003liw.1_5'Flank	p.C714C	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3297	+			714			Cytoplasmic (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.2142C>T	CCDS4251.1																																																																																				0.677	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		35	105	0	0	0	0.01441	0	35	105				
PCDHB10	56126	broad.mit.edu	37	5	140574319	140574319	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:140574319G>T	ENST00000239446.4	+	1	2378	c.2194G>T	c.(2194-2196)Ggt>Tgt	p.G732C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	732					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			GGTGCCCGAGGGTCCTTTTCC	0.667																																							uc003lix.2		NA																	0				ovary(1)|skin(1)	2						c.(2194-2196)GGT>TGT		protocadherin beta 10 precursor							59.0	68.0	65.0					5																	140574319		2203	4300	6503	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.chr5:140574319G>T	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.2194G>T	5.37:g.140574319G>T	ENSP00000239446:p.Gly732Cys						p.G732C	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2368	+			732			Cytoplasmic (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.2194G>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	9.892	1.204569	0.22205	.	.	ENSG00000120324	ENST00000239446	T	0.51817	0.69	3.28	3.28	0.37604	.	.	.	.	.	T	0.50086	0.1595	M	0.82716	2.605	0.09310	N	1	B	0.33280	0.405	B	0.33890	0.172	T	0.52540	-0.8562	9	0.72032	D	0.01	.	8.0267	0.30440	0.0:0.0:0.7574:0.2426	.	732	Q9UN67	PCDBA_HUMAN	C	732	ENSP00000239446:G732C	ENSP00000239446:G732C	G	+	1	0	PCDHB10	140554503	0.040000	0.19996	0.023000	0.16930	0.002000	0.02628	1.130000	0.31393	1.849000	0.53698	0.298000	0.19748	GGT		0.667	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		30	74	1	0	8.16277e-20	0.006999	1.38667e-19	30	74				
RBM27	54439	broad.mit.edu	37	5	145643186	145643186	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:145643186G>C	ENST00000265271.5	+	14	2489	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	RBM27_ENST00000506502.1_Missense_Mutation_p.D720H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	775					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTGGAGAAGATTGCCAGGT	0.383																																							uc003lnz.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(2323-2325)GAT>CAT		RNA binding motif protein 27							215.0	182.0	192.0					5																	145643186		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145643186G>C	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2323G>C	5.37:g.145643186G>C	ENSP00000265271:p.Asp775His					RBM27_uc003lny.2_Missense_Mutation_p.D720H	p.D775H	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2489	+			775					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2323G>C	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324885	0.60634	.	.	ENSG00000091009	ENST00000265271	T	0.44083	0.93	5.74	5.74	0.90152	.	0.163866	0.41712	D	0.000834	T	0.39937	0.1097	L	0.29908	0.895	0.42474	D	0.992833	P;P	0.45348	0.856;0.61	B;B	0.43536	0.423;0.205	T	0.21280	-1.0250	10	0.48119	T	0.1	-17.3848	19.9326	0.97124	0.0:0.0:1.0:0.0	.	775;720	Q9P2N5;B3KY61	RBM27_HUMAN;.	H	775	ENSP00000265271:D775H	ENSP00000265271:D775H	D	+	1	0	RBM27	145623379	1.000000	0.71417	0.965000	0.40720	0.979000	0.70002	6.685000	0.74543	2.720000	0.93068	0.650000	0.86243	GAT		0.383	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		10	129	0	0	0	0.001855	0	10	129				
FAM114A2	10827	broad.mit.edu	37	5	153382473	153382473	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:153382473C>T	ENST00000351797.4	-	10	1126	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	FAM114A2_ENST00000522858.1_Silent_p.E350E|FAM114A2_ENST00000520667.1_Silent_p.E350E|FAM114A2_ENST00000520313.1_Silent_p.E280E	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	350							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTTCTTCATTCTCTGCTAATG	0.373																																							uc003lvb.2		NA																	0					0						c.(1048-1050)GAG>GAA		hypothetical protein LOC10827							218.0	211.0	213.0					5																	153382473		2203	4300	6503	SO:0001819	synonymous_variant	10827						purine nucleotide binding	g.chr5:153382473C>T	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1050G>A	5.37:g.153382473C>T						FAM114A2_uc003lvc.2_Silent_p.E350E|FAM114A2_uc003lvd.2_Silent_p.E350E|FAM114A2_uc003lve.2_Silent_p.E166E|FAM114A2_uc011dda.1_Silent_p.E280E	p.E350E	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN			10	1638	-			350					B2R8D8|Q9H7E0	Silent	SNP	ENST00000351797.4	37	c.1050G>A	CCDS4323.1																																																																																				0.373	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		7	94	0	0	0	0.001984	0	7	94				
SLIT3	6586	broad.mit.edu	37	5	168135054	168135054	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:168135054G>T	ENST00000519560.1	-	26	3190	c.2771C>A	c.(2770-2772)cCg>cAg	p.P924Q	SLIT3_ENST00000404867.3_Missense_Mutation_p.P924Q|CTC-558O2.1_ENST00000522615.1_RNA|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.P931Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	924	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCTTGCACGGGCTGGAGAG	0.602																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(2770-2772)CCG>CAG		slit homolog 3 precursor							157.0	112.0	127.0					5																	168135054		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168135054G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2771C>A	5.37:g.168135054G>T	ENSP00000430333:p.Pro924Gln					SLIT3_uc010jjg.2_Missense_Mutation_p.P931Q	p.P924Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	3191	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	924			EGF-like 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2771C>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059953	0.76074	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.83755	-1.76;-1.76;-1.76	4.94	4.94	0.65067	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94414	0.8203	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96426	0.9315	10	0.87932	D	0	.	18.194	0.89815	0.0:0.0:1.0:0.0	.	924	O75094	SLIT3_HUMAN	Q	924;931;924	ENSP00000430333:P924Q;ENSP00000332164:P931Q;ENSP00000384890:P924Q	ENSP00000332164:P931Q	P	-	2	0	SLIT3	168067632	1.000000	0.71417	0.295000	0.24960	0.597000	0.36814	9.869000	0.99810	2.296000	0.77279	0.585000	0.79938	CCG		0.602	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		22	77	1	0	1.1804e-14	0.003954	1.86746e-14	22	77				
DOCK2	1794	broad.mit.edu	37	5	169230097	169230097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:169230097G>T	ENST00000256935.8	+	26	2670	c.2590G>T	c.(2590-2592)Gag>Tag	p.E864*	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E356*|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	864					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCACCAAAGAGCTGAAGGA	0.438																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2590-2592)GAG>TAG		dedicator of cytokinesis 2							110.0	98.0	102.0					5																	169230097		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169230097G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2590G>T	5.37:g.169230097G>T	ENSP00000256935:p.Glu864*					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Nonsense_Mutation_p.E356*	p.E864*	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	2670	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	864					Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.2590G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354655	0.95854	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6391	0.95749	0.0:0.0:1.0:0.0	.	.	.	.	X	864;245;356;68	.	ENSP00000256935:E864X	E	+	1	0	DOCK2	169162675	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	5.026000	0.64103	2.715000	0.92844	0.655000	0.94253	GAG		0.438	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		18	43	1	0	2.94398e-08	0.007413	3.83134e-08	18	43				
DOCK2	1794	broad.mit.edu	37	5	169507231	169507231	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:169507231A>T	ENST00000256935.8	+	50	5311	c.5231A>T	c.(5230-5232)aAg>aTg	p.K1744M	DOCK2_ENST00000540750.1_Missense_Mutation_p.K805M|DOCK2_ENST00000520908.1_Missense_Mutation_p.K1236M|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1744					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCCCCTCAAGGCGTCTGTC	0.557																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(5230-5232)AAG>ATG		dedicator of cytokinesis 2							133.0	109.0	117.0					5																	169507231		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169507231A>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5231A>T	5.37:g.169507231A>T	ENSP00000256935:p.Lys1744Met					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.K1236M|DOCK2_uc003mah.2_Missense_Mutation_p.K300M	p.K1744M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5311	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1744					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5231A>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	5.850	0.341022	0.11069	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09538	3.61;3.25;2.97	5.23	1.55	0.23275	.	0.574856	0.17667	N	0.166120	T	0.06142	0.0159	N	0.14661	0.345	0.09310	N	1	B;P;B	0.44195	0.34;0.828;0.34	B;B;B	0.43155	0.219;0.41;0.126	T	0.24621	-1.0155	10	0.48119	T	0.1	.	3.6366	0.08151	0.4447:0.1926:0.3627:0.0	.	1236;300;1744	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	M	1744;1236;805	ENSP00000256935:K1744M;ENSP00000429283:K1236M;ENSP00000438827:K805M	ENSP00000256935:K1744M	K	+	2	0	DOCK2	169439809	0.424000	0.25490	0.003000	0.11579	0.001000	0.01503	1.808000	0.38912	0.512000	0.28257	-1.010000	0.02471	AAG		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		22	48	0	0	0	0.012319	0	22	48				
FAM153B	202134	broad.mit.edu	37	5	175530281	175530281	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:175530281A>T	ENST00000253490.4	+	13	773	c.716A>T	c.(715-717)gAg>gTg	p.E239V	FAM153B_ENST00000515817.1_Missense_Mutation_p.E162V|FAM153B_ENST00000510151.1_Missense_Mutation_p.E162V|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	239										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GGCGAGGAGGAGGACCCAGAG	0.453																																							uc003mdk.2		NA																	0				ovary(1)	1						c.(715-717)GAG>GTG		hypothetical protein LOC202134							276.0	285.0	282.0					5																	175530281		2203	4300	6503	SO:0001583	missense	202134							g.chr5:175530281A>T	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.716A>T	5.37:g.175530281A>T	ENSP00000253490:p.Glu239Val						p.E239V	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	13	773	+	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	239					A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37	c.716A>T		.	.	.	.	.	.	.	.	.	.	A	10.97	1.500956	0.26861	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	1.26	1.26	0.21427	.	.	.	.	.	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	P	0.50710	0.938	B	0.43754	0.43	T	0.10019	-1.0648	8	0.66056	D	0.02	.	4.7454	0.13035	1.0:0.0:0.0:0.0	.	239	P0C7A2	F153B_HUMAN	V	162;239	.	ENSP00000253490:E239V	E	+	2	0	FAM153B	175462887	0.003000	0.15002	0.001000	0.08648	0.018000	0.09664	-1.812000	0.01726	0.837000	0.34925	0.145000	0.16022	GAG		0.453	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		24	248	0	0	0	0.00632	0	24	248				
FGFR4	2264	broad.mit.edu	37	5	176520169	176520169	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:176520169C>A	ENST00000292408.4	+	9	1333	c.1088C>A	c.(1087-1089)cCc>cAc	p.P363H	FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000393648.2_Missense_Mutation_p.P363H|FGFR4_ENST00000502906.1_Missense_Mutation_p.P363H	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	363					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GCAGCAGCGCCCGAGGCCAGG	0.662										TSP Lung(9;0.080)																													uc003mfl.2		NA																	0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(1087-1089)CCC>CAC		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						51.0	41.0	44.0					5																	176520169		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520169C>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1088C>A	5.37:g.176520169C>A	ENSP00000292408:p.Pro363His	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.P363H|FGFR4_uc011dfu.1_Missense_Mutation_p.P363H|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron	p.P363H	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1255	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	363			Extracellular (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1088C>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962762	0.34659	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000377207	T;T;T	0.79749	-1.3;-1.24;-1.3	5.18	5.18	0.71444	.	0.736452	0.13745	N	0.365660	T	0.81503	0.4836	L	0.59436	1.845	0.80722	D	1	P;P	0.50710	0.856;0.938	B;B	0.43916	0.219;0.436	T	0.82862	-0.0247	10	0.52906	T	0.07	.	18.3199	0.90234	0.0:1.0:0.0:0.0	.	363;363	B4DVP5;P22455	.;FGFR4_HUMAN	H	363;363;363;591	ENSP00000292408:P363H;ENSP00000377259:P363H;ENSP00000424960:P363H	ENSP00000292408:P363H	P	+	2	0	FGFR4	176452775	0.299000	0.24426	0.006000	0.13384	0.003000	0.03518	4.466000	0.60148	2.424000	0.82194	0.561000	0.74099	CCC		0.662	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			13	33	1	0	1.5842e-08	0.001855	2.09458e-08	13	33				
ZNF354A	6940	broad.mit.edu	37	5	178154111	178154111	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:178154111C>G	ENST00000335815.2	-	3	246	c.49G>C	c.(49-51)Gag>Cag	p.E17Q		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GCCACATCCTCAAACGTCAGT	0.552																																							uc003mjj.2		NA																	0				ovary(2)|skin(1)	3						c.(49-51)GAG>CAG		zinc finger protein 354A							115.0	100.0	105.0					5																	178154111		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178154111C>G	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.49G>C	5.37:g.178154111C>G	ENSP00000337122:p.Glu17Gln						p.E17Q	NM_005649	NP_005640	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	3	247	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	17			KRAB.		Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.49G>C	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	6.006	0.369466	0.11352	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.02197	4.4;4.4	3.63	-1.14	0.09741	Krueppel-associated box (4);	.	.	.	.	T	0.03178	0.0093	L	0.41027	1.25	0.09310	N	1	P	0.43938	0.822	P	0.48368	0.575	T	0.42649	-0.9439	9	0.62326	D	0.03	-8.9814	4.7759	0.13178	0.0:0.4663:0.1619:0.3719	.	17	O60765	Z354A_HUMAN	Q	17	ENSP00000337122:E17Q;ENSP00000429675:E17Q	ENSP00000337122:E17Q	E	-	1	0	ZNF354A	178086717	0.183000	0.23186	0.002000	0.10522	0.013000	0.08279	0.113000	0.15499	-0.029000	0.13827	0.561000	0.74099	GAG		0.552	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		12	63	0	0	0	0.001855	0	12	63				
DUSP22	56940	broad.mit.edu	37	6	348210	348210	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:348210G>T	ENST00000344450.5	+	6	814	c.371G>T	c.(370-372)tGt>tTt	p.C124F	DUSP22_ENST00000605863.1_Missense_Mutation_p.C21F|DUSP22_ENST00000419235.2_Missense_Mutation_p.C124F|DUSP22_ENST00000605315.1_Missense_Mutation_p.C21F|DUSP22_ENST00000604971.1_Missense_Mutation_p.C21F|DUSP22_ENST00000603453.1_Missense_Mutation_p.C21F|DUSP22_ENST00000605035.1_Missense_Mutation_p.C21F	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	124	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGGAGATCCTGTGCCAACCCC	0.572																																							uc003msx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(370-372)TGT>TTT		dual specificity phosphatase 22							144.0	129.0	134.0					6																	348210		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348210G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.371G>T	6.37:g.348210G>T	ENSP00000345281:p.Cys124Phe					DUSP22_uc011dhn.1_Missense_Mutation_p.C124F|DUSP22_uc003msy.1_Missense_Mutation_p.C81F	p.C124F	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	6	810	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	124			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.371G>T	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620439	0.46736	.	.	ENSG00000112679	ENST00000344450	D	0.85484	-1.99	5.82	5.82	0.92795	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	N	0.26130	0.795	0.80722	D	1	P;P;P	0.40066	0.46;0.701;0.496	B;B;B	0.41764	0.103;0.366;0.179	T	0.73135	-0.4078	10	0.21540	T	0.41	.	20.0852	0.97797	0.0:0.0:1.0:0.0	.	124;81;124	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	F	124	ENSP00000345281:C124F	ENSP00000345281:C124F	C	+	2	0	DUSP22	293210	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.944000	0.87722	2.752000	0.94435	0.655000	0.94253	TGT		0.572	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		20	162	1	0	1.28384e-07	0.012319	1.62737e-07	20	162				
IRF4	3662	broad.mit.edu	37	6	401567	401567	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:401567G>T	ENST00000380956.4	+	7	1015	c.889G>T	c.(889-891)Gac>Tac	p.D297Y		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	297					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CTACCCAGAGGACAATGGCCA	0.607			T	IGH@	MM																																		uc003msz.3		NA		Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		0				ovary(1)	1						c.(889-891)GAC>TAC		interferon regulatory factor 4							59.0	47.0	51.0					6																	401567		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:401567G>T	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.889G>T	6.37:g.401567G>T	ENSP00000370343:p.Asp297Tyr					IRF4_uc010jne.1_Missense_Mutation_p.D297Y|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.D296Y|IRF4_uc003mtc.1_Missense_Mutation_p.D127Y	p.D297Y	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	7	1002	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	297					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.889G>T	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073690	0.76415	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96011	-3.88	5.76	5.76	0.90799	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.129212	0.52532	D	0.000069	D	0.95329	0.8484	L	0.48642	1.525	0.80722	D	1	P;B;B;P	0.47034	0.889;0.157;0.13;0.827	P;B;B;P	0.52672	0.706;0.065;0.039;0.593	D	0.95488	0.8566	10	0.72032	D	0.01	-39.5889	19.9857	0.97347	0.0:0.0:1.0:0.0	.	297;327;296;297	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	Y	297;326	ENSP00000370343:D297Y	ENSP00000370343:D297Y	D	+	1	0	IRF4	346567	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.940000	0.70187	2.706000	0.92434	0.655000	0.94253	GAC		0.607	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			5	50	1	0	2.7689e-08	0.001984	3.60914e-08	5	50				
NEDD9	4739	broad.mit.edu	37	6	11190713	11190713	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:11190713G>A	ENST00000379446.5	-	5	1555	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	NEDD9_ENST00000504387.1_Silent_p.L463L|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	463					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGACAAAGTGGAGGTACTCCT	0.522																																							uc003mzv.2		NA																	0					0						c.(1387-1389)CTC>CTT		neural precursor cell expressed, developmentally							76.0	72.0	74.0					6																	11190713		2203	4300	6503	SO:0001819	synonymous_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11190713G>A	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1389C>T	6.37:g.11190713G>A						NEDD9_uc010joz.2_Silent_p.L463L|NEDD9_uc003mzw.3_Silent_p.L317L	p.L463L	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	1556	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	463					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	c.1389C>T	CCDS4520.1																																																																																				0.522	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		7	26	0	0	0	0.00308	0	7	26				
MYLIP	29116	broad.mit.edu	37	6	16145422	16145422	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:16145422G>A	ENST00000356840.3	+	6	1320	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	MYLIP_ENST00000349606.4_Silent_p.L193L	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	374					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CCCGGGTGCTGCAGGAGAAGC	0.587																																							uc003nbq.2		NA																	0				pancreas(1)	1						c.(1120-1122)CTG>CTA		myosin regulatory light chain interacting							78.0	77.0	77.0					6																	16145422		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16145422G>A	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1122G>A	6.37:g.16145422G>A						MYLIP_uc003nbr.2_Silent_p.L193L	p.L374L	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		6	1359	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	374					Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.1122G>A	CCDS4536.1																																																																																				0.587	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		4	94	0	0	0	0.009096	0	4	94				
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542																																							uc003nfw.2		NA																	2	Substitution - coding silent(2)		NS(1)|lung(1)	ovary(3)|skin(2)	5						c.(538-540)GCG>GCA		histone cluster 1, H1c							97.0	106.0	103.0					6																	26056117		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056117C>T	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.540G>A	6.37:g.26056117C>T							p.A180A	NM_005319	NP_005310	P16403	H12_HUMAN			1	583	-			180					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.540G>A	CCDS4577.1																																																																																				0.542	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		4	101	0	0	0	0.001984	0	4	101				
HIST1H3E	8353	broad.mit.edu	37	6	26225393	26225393	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:26225393C>G	ENST00000360408.1	+	1	11	c.11C>G	c.(10-12)aCt>aGt	p.T4S		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	4					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				ATGGCGCGTACTAAGCAGACG	0.532																																							uc003nhb.2		NA																	0					0						c.(10-12)ACT>AGT		histone cluster 1, H3f							74.0	76.0	75.0					6																	26225393		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225393C>G	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.11C>G	6.37:g.26225393C>G	ENSP00000353581:p.Thr4Ser					HIST1H3E_uc003nhc.3_Missense_Mutation_p.T4S	p.T4S	NM_021018	NP_066298	P68431	H31_HUMAN			2	371	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	4					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.11C>G	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792307	0.50102	.	.	ENSG00000196966	ENST00000360408	T	0.46451	0.87	4.54	4.54	0.55810	.	.	.	.	.	T	0.51618	0.1685	.	.	.	0.34959	D	0.752048	.	.	.	.	.	.	T	0.58769	-0.7578	6	0.87932	D	0	.	16.8198	0.85743	0.0:1.0:0.0:0.0	.	.	.	.	S	4	ENSP00000353581:T4S	ENSP00000353581:T4S	T	+	2	0	HIST1H3E	26333372	1.000000	0.71417	0.019000	0.16419	0.455000	0.32408	7.651000	0.83577	2.541000	0.85698	0.491000	0.48974	ACT		0.532	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		24	84	0	0	0	0.010818	0	24	84				
BTN1A1	696	broad.mit.edu	37	6	26509394	26509394	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:26509394G>C	ENST00000244513.6	+	7	1639	c.1573G>C	c.(1573-1575)Gca>Cca	p.A525P		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	525						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CAGCCAAGGGGCACCTTAAGG	0.517																																							uc003nif.3		NA																	0				ovary(1)|skin(1)	2						c.(1573-1575)GCA>CCA		butyrophilin, subfamily 1, member A1 precursor							79.0	84.0	82.0					6																	26509394		2200	4295	6495	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26509394G>C	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1573G>C	6.37:g.26509394G>C	ENSP00000244513:p.Ala525Pro						p.A525P	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			7	1593	+			525			Cytoplasmic (Potential).		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.1573G>C	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350446	0.24512	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.38240	1.15	5.41	0.485	0.16830	.	0.509492	0.18356	N	0.143728	T	0.10809	0.0264	L	0.29908	0.895	0.09310	N	0.999996	P	0.43169	0.8	B	0.41860	0.368	T	0.09552	-1.0669	10	0.62326	D	0.03	.	5.7936	0.18373	0.3077:0.1312:0.5611:0.0	.	525	Q13410	BT1A1_HUMAN	P	525;493	ENSP00000244513:A525P	ENSP00000244513:A525P	A	+	1	0	BTN1A1	26617373	0.000000	0.05858	0.034000	0.17996	0.324000	0.28378	-0.325000	0.07976	-0.101000	0.12219	0.655000	0.94253	GCA		0.517	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		21	84	0	0	0	0.004656	0	21	84				
VN1R10P	387316	broad.mit.edu	37	6	27293197	27293197	+	IGR	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:27293197G>A								POM121L2 (13248 upstream) : ZNF391 (49196 downstream)																							GTTTACTCAAGGTTTCCTCTT	0.343																																							uc010jqt.2		NA																	0					0						c.(136-138)GGT>AGT		FKSG83							237.0	211.0	219.0					6																	27293197		1907	4112	6019	SO:0001628	intergenic_variant	83954					integral to membrane	pheromone receptor activity	g.chr6:27293197G>A																													6.37:g.27293197G>A						FKSG83_uc010jqs.1_3'UTR	p.G46S	NM_032030	NP_114419	Q3KNW7	Q3KNW7_HUMAN			1	620	+			46						Missense_Mutation	SNP		37	c.136G>A																																																																																				0	0.343									10	66	0	0	0	0.008291	0	10	66				
ZNF165	7718	broad.mit.edu	37	6	28053504	28053504	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:28053504C>T	ENST00000377325.1	+	2	802	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCCAGAGATCCATACCAAGG	0.557																																							uc003nkg.2		NA																	0					0						c.(244-246)ATC>ATT		zinc finger protein 165							48.0	52.0	50.0					6																	28053504		2203	4300	6503	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28053504C>T	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.246C>T	6.37:g.28053504C>T						ZNF165_uc003nkh.2_Silent_p.I82I|ZNF165_uc003nki.3_Silent_p.I82I	p.I82I	NM_003447	NP_003438	P49910	ZN165_HUMAN			3	1330	+			82			SCAN box.			Silent	SNP	ENST00000377325.1	37	c.246C>T	CCDS4643.1																																																																																				0.557	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		4	37	0	0	0	0.000602	0	4	37				
PPP1R10	5514	broad.mit.edu	37	6	30571350	30571350	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:30571350G>A	ENST00000376511.2	-	16	2218	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	556	Gly-rich.|Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCAGAACTGGAGGCAACTTG	0.562																																							uc003nqn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1666-1668)CCA>TCA		protein phosphatase 1, regulatory subunit 10							109.0	114.0	112.0					6																	30571350		2203	4300	6503	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571350G>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1666C>T	6.37:g.30571350G>A	ENSP00000365694:p.Pro556Ser					PPP1R10_uc010jsc.1_Missense_Mutation_p.P210S	p.P556S	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			16	2218	-			556			Gly-rich.|Interaction with WDR82 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.1666C>T	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691852	0.68271	.	.	ENSG00000204569	ENST00000376511	T	0.28255	1.62	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	N	0.19112	0.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.28618	-1.0038	10	0.59425	D	0.04	-8.7422	16.924	0.86170	0.0:0.0:1.0:0.0	.	556	Q96QC0	PP1RA_HUMAN	S	556	ENSP00000365694:P556S	ENSP00000365694:P556S	P	-	1	0	PPP1R10	30679329	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.713000	0.91408	2.348000	0.79779	0.313000	0.20887	CCA		0.562	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		7	162	0	0	0	0.001984	0	7	162				
UQCC2	84300	broad.mit.edu	37	6	33669173	33669173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:33669173G>A	ENST00000607484.1	-	2	203	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	UQCC2_ENST00000374214.3_Intron	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	55					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TCGTACATCTGATCACAGGCC	0.493																																							uc003ofa.1		NA																	0					0						c.(163-165)CAG>TAG		hypothetical protein LOC84300							152.0	144.0	147.0					6																	33669173		2203	4300	6503	SO:0001587	stop_gained	84300							g.chr6:33669173G>A		CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"""Mitochondrial respiratory chain complex assembly factors"""	21237	protein-coding gene	gene with protein product	"""cytochrome B protein synthesis 6 homolog (S. cerevisiae)"""	614461	"""chromosome 6 open reading frame 125"", ""mitochondrial nucleoid factor 1"""	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.163C>T	6.37:g.33669173G>A	ENSP00000476140:p.Gln55*					C6orf125_uc003oez.1_5'Flank|C6orf125_uc010jve.1_RNA	p.Q55*	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN			2	204	-			55					B2R4I0	Nonsense_Mutation	SNP	ENST00000607484.1	37	c.163C>T	CCDS4784.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524066	0.85600	.	.	ENSG00000137288	ENST00000374231	.	.	.	6.02	2.05	0.26809	.	0.315162	0.34245	N	0.004131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.6307	0.91359	0.0:0.5958:0.4042:0.0	.	.	.	.	X	55	.	ENSP00000363348:Q55X	Q	-	1	0	C6orf125	33777151	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.039000	0.30266	0.082000	0.17018	0.655000	0.94253	CAG		0.493	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340		4	118	0	0	0	0.009096	0	4	118				
SLC26A8	116369	broad.mit.edu	37	6	35928847	35928847	+	Silent	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:35928847T>G	ENST00000490799.1	-	13	1844	c.1491A>C	c.(1489-1491)tcA>tcC	p.S497S	SLC26A8_ENST00000355574.2_Silent_p.S497S|SLC26A8_ENST00000394602.2_Silent_p.S392S	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CCAGGAAAATTGAAGATGAGA	0.393																																							uc003olm.2		NA																	0				ovary(2)	2						c.(1489-1491)TCA>TCC		solute carrier family 26, member 8 isoform a							119.0	106.0	110.0					6																	35928847		2203	4300	6503	SO:0001819	synonymous_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35928847T>G	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1491A>C	6.37:g.35928847T>G						SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Silent_p.S79S|SLC26A8_uc003oln.2_Silent_p.S497S|SLC26A8_uc003oll.2_Silent_p.S392S	p.S497S	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			13	1602	-			497			Extracellular (Potential).			Silent	SNP	ENST00000490799.1	37	c.1491A>C	CCDS4813.1																																																																																				0.393	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			13	48	0	0	0	0.003163	0	13	48				
USP49	25862	broad.mit.edu	37	6	41774562	41774562	+	Missense_Mutation	SNP	C	C	T	rs144313199		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:41774562C>T	ENST00000394253.3	-	3	489	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	USP49_ENST00000297229.2_Missense_Mutation_p.A54T|USP49_ENST00000373006.1_Missense_Mutation_p.A54T|USP49_ENST00000373009.3_Missense_Mutation_p.A54T|USP49_ENST00000373010.1_Missense_Mutation_p.A54T			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	54					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTTTCAGGGCGTGGTCCTCA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13845	0.0		0.0	False		,,,				2504	0.0						uc003ori.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(160-162)GCC>ACC		ubiquitin thioesterase 49		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	102.0	106.0	105.0		160	5.1	1.0	6	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	yes	missense	USP49	NM_018561.3	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	54/641	41774562	2,13004	2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774562C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.160G>A	6.37:g.41774562C>T	ENSP00000377797:p.Ala54Thr						p.A54T	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	382	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		54			UBP-type.		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.160G>A		.	.	.	.	.	.	.	.	.	.	C	21.8	4.205458	0.79127	2.27E-4	1.16E-4	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.05	5.05	0.67936	.	0.059102	0.64402	D	0.000002	T	0.78362	0.4271	H	0.98089	4.145	0.38741	D	0.953883	D	0.69078	0.997	D	0.68192	0.956	D	0.85641	0.1276	10	0.72032	D	0.01	-11.6914	13.2109	0.59822	0.1592:0.8408:0.0:0.0	.	54	Q70CQ1-2	.	T	54	ENSP00000377797:A54T;ENSP00000362101:A54T;ENSP00000362100:A54T;ENSP00000362097:A54T;ENSP00000297229:A54T	ENSP00000297229:A54T	A	-	1	0	USP49	41882540	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	3.547000	0.53663	2.624000	0.88883	0.655000	0.94253	GCC		0.577	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		11	134	0	0	0	0.013537	0	11	134				
PTCHD4	442213	broad.mit.edu	37	6	48036130	48036130	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:48036130C>A	ENST00000339488.4	-	1	295	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	PTCHD4_ENST00000543600.1_Missense_Mutation_p.A71S	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	88						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AGGCTGCTGGCCAGGCTGCGC	0.657																																							uc011dwm.1		NA																	0				central_nervous_system(1)	1						c.(211-213)GCC>TCC		hypothetical protein LOC442213							60.0	66.0	64.0					6																	48036130		1965	4149	6114	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036130C>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.262G>T	6.37:g.48036130C>A	ENSP00000341914:p.Ala88Ser					C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Missense_Mutation_p.A88S	p.A71S	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			1	296	-			88					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.211G>T	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.170682|4.170682	0.78452|0.78452	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;T|.	0.92348|.	-3.02;0.64|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.068317|.	0.56097|.	D|.	0.000022|.	T|T	0.62636|0.62636	0.2444|0.2444	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;D|.	0.61697|.	0.92;0.99|.	B;P|.	0.57620|.	0.438;0.824|.	T|T	0.61628|0.61628	-0.7024|-0.7024	10|5	0.22109|.	T|.	0.4|.	.|.	18.0082|18.0082	0.89215|0.89215	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88;71|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	S|V	88;71|87	ENSP00000341914:A88S;ENSP00000439864:A71S|.	ENSP00000341914:A88S|.	A|G	-|-	1|2	0|0	C6orf138|C6orf138	48144089|48144089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.394000|7.394000	0.79862|0.79862	2.237000|2.237000	0.73441|0.73441	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.657	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		14	69	1	0	4.7546e-09	0.004007	6.40905e-09	14	69				
CRISP3	10321	broad.mit.edu	37	6	49704215	49704215	+	Silent	SNP	G	G	T	rs267601064		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:49704215G>T	ENST00000393666.1	-	2	84	c.78C>A	c.(76-78)ccC>ccA	p.P26P	CRISP3_ENST00000263045.4_Silent_p.P39P|CRISP3_ENST00000371159.4_Silent_p.P57P|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000433368.2_Silent_p.P49P			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	26					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.P26P(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CAGTAAAAGCGGGATCCTAAG	0.368																																							uc003ozs.2		NA																	2	Substitution - coding silent(2)	p.P26P(1)	lung(1)|skin(1)	skin(2)	2						c.(76-78)CCC>CCA		cysteine-rich secretory protein 3 precursor							159.0	154.0	156.0					6																	49704215		2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704215G>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.78C>A	6.37:g.49704215G>T							p.P26P	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		3	93	-	Lung NSC(77;0.0161)		26					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.78C>A																																																																																					0.368	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		41	128	1	0	8.94452e-30	0.01441	1.61196e-29	41	128				
TFAP2B	7021	broad.mit.edu	37	6	50810857	50810857	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:50810857G>A	ENST00000393655.3	+	7	1304	c.1135G>A	c.(1135-1137)Ggg>Agg	p.G379R	TFAP2B_ENST00000263046.4_Missense_Mutation_p.G388R	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	379				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GACACCGATAGGGAACAGCCG	0.607																																					Pancreas(116;1373 2332 5475 10752)	Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	0					0						c.(1135-1137)GGG>AGG		transcription factor AP-2 beta							75.0	83.0	80.0					6																	50810857		2202	4300	6502	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810857G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1135G>A	6.37:g.50810857G>A	ENSP00000377265:p.Gly379Arg						p.G379R	NM_003221	NP_003212	Q92481	AP2B_HUMAN			7	1301	+	Lung NSC(77;0.156)		379	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1135G>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066490	0.76187	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96967	-4.19;-4.19	4.79	4.79	0.61399	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98979	1.0804	10	0.62326	D	0.03	-10.095	17.8403	0.88713	0.0:0.0:1.0:0.0	.	379	Q92481	AP2B_HUMAN	R	379;388	ENSP00000377265:G379R;ENSP00000263046:G388R	ENSP00000263046:G388R	G	+	1	0	TFAP2B	50918816	1.000000	0.71417	0.984000	0.44739	0.981000	0.71138	9.807000	0.99171	2.214000	0.71695	0.655000	0.94253	GGG		0.607	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		35	127	0	0	0	0.00623	0	35	127				
LMBRD1	55788	broad.mit.edu	37	6	70423557	70423557	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:70423557C>A	ENST00000370577.3	-	9	1124	c.895G>T	c.(895-897)Ggc>Tgc	p.G299C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.G226C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	299					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CGCAGAGCGCCACAAAATTTT	0.393																																							uc003pfa.2		NA																	0				ovary(1)	1						c.(895-897)GGC>TGC		liver regeneration p-53 related protein							131.0	130.0	131.0					6																	70423557		2203	4300	6503	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70423557C>A	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.895G>T	6.37:g.70423557C>A	ENSP00000359609:p.Gly299Cys					LMBRD1_uc003pey.2_Missense_Mutation_p.G95C|LMBRD1_uc003pez.2_Missense_Mutation_p.G226C|LMBRD1_uc010kal.2_Missense_Mutation_p.G226C|LMBRD1_uc003pfb.2_RNA	p.G299C	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			9	1010	-			299			Cytoplasmic (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.895G>T	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281644	0.40394	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.23552	1.9;1.9	5.78	5.78	0.91487	.	0.412876	0.29668	N	0.011507	T	0.09512	0.0234	N	0.22421	0.69	0.32592	N	0.527051	B	0.13594	0.008	B	0.09377	0.004	T	0.06807	-1.0806	10	0.54805	T	0.06	-13.1148	13.5704	0.61843	0.0:0.9289:0.0:0.0711	.	299	Q9NUN5	LMBD1_HUMAN	C	299;226	ENSP00000359609:G299C;ENSP00000359602:G226C	ENSP00000359602:G226C	G	-	1	0	LMBRD1	70480278	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	1.049000	0.30392	2.894000	0.99253	0.591000	0.81541	GGC		0.393	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		10	57	1	0	9.31168e-06	0.001855	1.1107e-05	10	57				
IMPG1	3617	broad.mit.edu	37	6	76660317	76660317	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:76660317G>C	ENST00000369950.3	-	13	1975	c.1786C>G	c.(1786-1788)Ctg>Gtg	p.L596V	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CGGTACTCCAGAGAGCTCTTG	0.478																																					Pancreas(37;839 1141 2599 26037)	Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	0				ovary(2)|skin(1)	3						c.(1786-1788)CTG>GTG		interphotoreceptor matrix proteoglycan 1							45.0	40.0	41.0					6																	76660317		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660317G>C	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1786C>G	6.37:g.76660317G>C	ENSP00000358966:p.Leu596Val						p.L596V	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			13	1916	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	596			SEA 2.			Missense_Mutation	SNP	ENST00000369950.3	37	c.1786C>G	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648317	0.47258	.	.	ENSG00000112706	ENST00000369950	T	0.38240	1.15	5.87	4.96	0.65561	SEA (2);	0.537102	0.16619	N	0.206591	T	0.32763	0.0840	L	0.40543	1.245	0.09310	N	1	D	0.67145	0.996	D	0.63033	0.91	T	0.06844	-1.0804	10	0.30078	T	0.28	.	12.4912	0.55901	0.0:0.2053:0.6792:0.1156	.	596	Q17R60	IMPG1_HUMAN	V	596	ENSP00000358966:L596V	ENSP00000358966:L596V	L	-	1	2	IMPG1	76717037	0.001000	0.12720	0.781000	0.31783	0.946000	0.59487	0.771000	0.26633	2.770000	0.95276	0.650000	0.86243	CTG		0.478	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		4	38	0	0	0	0.000602	0	4	38				
ELOVL4	6785	broad.mit.edu	37	6	80634702	80634702	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:80634702A>C	ENST00000369816.4	-	3	636	c.336T>G	c.(334-336)agT>agG	p.S112R		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	112					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AATAATCCACACTCTGGCAAA	0.308																																							uc003pja.3		NA																	0				ovary(1)|skin(1)	2						c.(334-336)AGT>AGG		elongation of very long chain fatty acids-like	Alpha-Linolenic Acid(DB00132)						80.0	83.0	82.0					6																	80634702		2202	4295	6497	SO:0001583	missense	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80634702A>C	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.336T>G	6.37:g.80634702A>C	ENSP00000358831:p.Ser112Arg					ELOVL4_uc011dyt.1_Intron	p.S112R	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	3	655	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	112					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	c.336T>G	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570767	0.45798	.	.	ENSG00000118402	ENST00000369816	T	0.18502	2.21	5.92	0.926	0.19430	.	0.404094	0.30528	N	0.009430	T	0.02494	0.0076	N	0.10874	0.06	0.36729	D	0.881593	B	0.02656	0.0	B	0.10450	0.005	T	0.31752	-0.9932	10	0.59425	D	0.04	-2.7504	3.4509	0.07498	0.5201:0.0:0.2081:0.2718	.	112	Q9GZR5	ELOV4_HUMAN	R	112	ENSP00000358831:S112R	ENSP00000358831:S112R	S	-	3	2	ELOVL4	80691421	0.982000	0.34865	0.998000	0.56505	0.999000	0.98932	0.379000	0.20585	0.139000	0.18822	0.533000	0.62120	AGT		0.308	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			9	53	0	0	0	0.010729	0	9	53				
TBX18	9096	broad.mit.edu	37	6	85446962	85446962	+	Missense_Mutation	SNP	C	C	A	rs149770046	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:85446962C>A	ENST00000369663.5	-	8	1602	c.1265G>T	c.(1264-1266)cGc>cTc	p.R422L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	422					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAGGCCTGAGCGGGCACAGGC	0.602																																							uc003pkl.1		NA																	0				ovary(2)|pancreas(2)|lung(1)	5						c.(1264-1266)CGC>CTC		T-box 18							100.0	93.0	95.0					6																	85446962		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446962C>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1265G>T	6.37:g.85446962C>A	ENSP00000358677:p.Arg422Leu					TBX18_uc010kbq.1_Intron	p.R422L	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1265	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	422					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1265G>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875380	0.72180	.	.	ENSG00000112837	ENST00000369663	D	0.89050	-2.46	5.18	5.18	0.71444	.	0.365895	0.33875	N	0.004475	D	0.89753	0.6806	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.66716	0.946	D	0.90741	0.4650	10	0.56958	D	0.05	.	18.6703	0.91508	0.0:1.0:0.0:0.0	.	422	O95935	TBX18_HUMAN	L	422	ENSP00000358677:R422L	ENSP00000358677:R422L	R	-	2	0	TBX18	85503681	1.000000	0.71417	0.950000	0.38849	0.638000	0.38207	7.153000	0.77428	2.409000	0.81822	0.585000	0.79938	CGC		0.602	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		16	76	1	0	3.99206e-14	0.007413	6.16278e-14	16	76				
MDN1	23195	broad.mit.edu	37	6	90388457	90388457	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:90388457C>G	ENST00000369393.3	-	75	12388	c.12273G>C	c.(12271-12273)gtG>gtC	p.V4091V	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.V4091V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4091					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGAGGAAATCACTTCACCTG	0.502																																							uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(12271-12273)GTG>GTC		MDN1, midasin homolog							84.0	79.0	81.0					6																	90388457		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90388457C>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12273G>C	6.37:g.90388457C>G							p.V4091V	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	75	12389	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4091					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.12273G>C	CCDS5024.1																																																																																				0.502	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	53	0	0	0	0.009096	0	3	53				
CASP8AP2	9994	broad.mit.edu	37	6	90577735	90577735	+	RNA	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:90577735G>T	ENST00000551025.1	+	0	6163									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGGAAAGGAAGCTGATGAAGG	0.393																																					Colon(187;1656 2025 17045 31481 39901)	Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	0				ovary(2)	2						c.(4726-4728)GCT>TCT		caspase 8 associated protein 2							164.0	142.0	149.0					6																	90577735		1879	4099	5978			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577735G>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577735G>T						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.A1576S|CASP8AP2_uc011dzz.1_Missense_Mutation_p.A1576S	p.A1576S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	8	4922	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1576						Missense_Mutation	SNP	ENST00000551025.1	37	c.4726G>T																																																																																					0.393	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		18	118	1	0	1.96292e-10	0.010504	2.75807e-10	18	118				
FUT9	10690	broad.mit.edu	37	6	96651491	96651491	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:96651491C>A	ENST00000302103.5	+	3	786	c.460C>A	c.(460-462)Ctg>Atg	p.L154M		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	154					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTTGTTTAACCTGACTCTGAC	0.463																																					Melanoma(98;1369 1476 6592 22940 26587)	Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NA																	0				skin(4)|ovary(1)	5						c.(460-462)CTG>ATG		fucosyltransferase 9 (alpha (1,3)							77.0	72.0	74.0					6																	96651491		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651491C>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.460C>A	6.37:g.96651491C>A	ENSP00000302599:p.Leu154Met						p.L154M	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	801	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	154			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.460C>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815617	0.50527	.	.	ENSG00000172461	ENST00000302103	T	0.27402	1.67	5.3	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.60845	1.875	0.54753	D	0.999987	D	0.71674	0.998	D	0.75484	0.986	T	0.33675	-0.9859	10	0.56958	D	0.05	-5.605	12.5267	0.56089	0.0:0.916:0.0:0.084	.	154	Q9Y231	FUT9_HUMAN	M	154	ENSP00000302599:L154M	ENSP00000302599:L154M	L	+	1	2	FUT9	96758212	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.919000	0.40015	1.306000	0.44926	0.655000	0.94253	CTG		0.463	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		10	39	1	0	7.03913e-09	0.013537	9.44245e-09	10	39				
FBXL4	26235	broad.mit.edu	37	6	99322155	99322155	+	Nonstop_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:99322155C>A	ENST00000369244.2	-	10	2293	c.1865G>T	c.(1864-1866)tGa>tTa	p.*622L	FBXL4_ENST00000229971.1_Nonstop_Mutation_p.*622L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	0					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TATATTAAGTCACTGAGTAAA	0.323																																							uc003ppf.1		NA																	0				skin(2)	2						c.(1864-1866)TGA>TTA		F-box and leucine-rich repeat protein 4							63.0	66.0	65.0					6																	99322155		2203	4300	6503	SO:0001578	stop_lost	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99322155C>A	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1865G>T	6.37:g.99322155C>A						FBXL4_uc003ppg.1_Nonstop_Mutation_p.*622L|FBXL4_uc003pph.1_Nonstop_Mutation_p.*224L	p.*622L	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	9	2223	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	622					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Nonstop_Mutation	SNP	ENST00000369244.2	37	c.1865G>T	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035580	0.54896	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5695	0.61838	0.0:0.9294:0.0:0.0706	.	.	.	.	L	622	.	.	X	-	2	2	FBXL4	99428876	1.000000	0.71417	0.998000	0.56505	0.728000	0.41692	3.803000	0.55560	2.824000	0.97209	0.655000	0.94253	TGA		0.323	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			6	30	1	0	8.12818e-05	0.001984	9.20528e-05	6	30				
PRDM1	639	broad.mit.edu	37	6	106555151	106555151	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:106555151G>A	ENST00000369096.4	+	7	2502	c.2268G>A	c.(2266-2268)gaG>gaA	p.E756E	PRDM1_ENST00000369091.2_Silent_p.E720E|PRDM1_ENST00000369089.3_Silent_p.E622E	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	756					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CTGTAGTGGAGAAGGAAATTC	0.478			"""D, N, Mis, F, S"""		DLBCL																																		uc003prd.2		NA		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(2266-2268)GAG>GAA		PR domain containing 1, with ZNF domain isoform							99.0	103.0	102.0					6																	106555151		2203	4300	6503	SO:0001819	synonymous_variant	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106555151G>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2268G>A	6.37:g.106555151G>A						PRDM1_uc003pre.2_Silent_p.E622E	p.E756E	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	7	2502	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	756					B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	c.2268G>A	CCDS5054.2																																																																																				0.478	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			19	55	0	0	0	0.010504	0	19	55				
BEND3	57673	broad.mit.edu	37	6	107391278	107391278	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:107391278C>G	ENST00000369042.1	-	4	1307	c.1117G>C	c.(1117-1119)Gac>Cac	p.D373H	BEND3_ENST00000429433.2_Missense_Mutation_p.D373H			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	373										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TCCTCCTGGTCTTTGTTGTCC	0.642																																							uc003prs.2		NA																	0				ovary(3)	3						c.(1117-1119)GAC>CAC		BEN domain containing 3							56.0	55.0	55.0					6																	107391278		2203	4300	6503	SO:0001583	missense	57673							g.chr6:107391278C>G	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1117G>C	6.37:g.107391278C>G	ENSP00000358038:p.Asp373His						p.D373H	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	1767	-			373					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.1117G>C	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626653	0.46840	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.11	5.11	0.69529	.	0.169906	0.51477	D	0.000084	T	0.30448	0.0765	N	0.08118	0	0.48975	D	0.999733	B	0.26258	0.145	B	0.30782	0.12	T	0.32481	-0.9905	9	0.59425	D	0.04	-14.2765	18.7244	0.91708	0.0:1.0:0.0:0.0	.	373	Q5T5X7	BEND3_HUMAN	H	373	.	ENSP00000358038:D373H	D	-	1	0	BEND3	107497971	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	5.552000	0.67281	2.664000	0.90586	0.561000	0.74099	GAC		0.642	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		18	81	0	0	0	0.008871	0	18	81				
HS3ST5	222537	broad.mit.edu	37	6	114379204	114379204	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:114379204C>A	ENST00000312719.5	-	5	1446	c.258G>T	c.(256-258)ctG>ctT	p.L86L	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L86L			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	86					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)			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)		GCTGCTGGACCAGGTCATGGA	0.577																																							uc003pwg.3		NA																	0				ovary(1)|pancreas(1)	2						c.(256-258)CTG>CTT		heparan sulfate (glucosamine)							67.0	63.0	64.0					6																	114379204		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:114379204C>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.258G>T	6.37:g.114379204C>A						uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.L86L	p.L86L	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	290	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	86			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	c.258G>T	CCDS34517.1																																																																																				0.577	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		11	47	1	0	1.5842e-08	0.001855	2.09458e-08	11	47				
NT5DC1	221294	broad.mit.edu	37	6	116542282	116542282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:116542282G>T	ENST00000319550.4	+	7	677	c.595G>T	c.(595-597)Gaa>Taa	p.E199*		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	199							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TAGTTGTCCTGAATCTGTGAA	0.323																																					Colon(128;1440 1664 38087 41475 42869)	Colon(128;1440 1664 38087 41475 42869)	uc003pwj.2		NA																	0					0						c.(595-597)GAA>TAA		5'-nucleotidase, cytosolic II-like 1 protein							58.0	60.0	60.0					6																	116542282		2203	4299	6502	SO:0001587	stop_gained	221294						hydrolase activity|metal ion binding	g.chr6:116542282G>T	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.595G>T	6.37:g.116542282G>T	ENSP00000326858:p.Glu199*					NT5DC1_uc003pwk.2_Nonsense_Mutation_p.E191*|NT5DC1_uc003pwl.2_Nonsense_Mutation_p.E149*	p.E199*	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	7	690	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	199					B2RND9|B3KR35|Q6XYD5	Nonsense_Mutation	SNP	ENST00000319550.4	37	c.595G>T	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445055	0.96187	.	.	ENSG00000178425	ENST00000319550	.	.	.	5.53	4.63	0.57726	.	0.153167	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-24.7303	10.8595	0.46819	0.163:0.0:0.837:0.0	.	.	.	.	X	199	.	ENSP00000326858:E199X	E	+	1	0	NT5DC1	116648975	1.000000	0.71417	0.938000	0.37757	0.987000	0.75469	6.179000	0.71974	1.289000	0.44618	0.585000	0.79938	GAA		0.323	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		8	55	1	0	5.68852e-11	0.004482	8.22999e-11	8	55				
GPRC6A	222545	broad.mit.edu	37	6	117128171	117128171	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:117128171C>T	ENST00000310357.3	-	3	718	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	GPRC6A_ENST00000530250.1_Missense_Mutation_p.E233K|GPRC6A_ENST00000368549.3_Missense_Mutation_p.E233K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	233					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTATTTGCTTCAGCCTGAATT	0.403																																							uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(697-699)GAA>AAA		G protein-coupled receptor, family C, group 6,							153.0	154.0	153.0					6																	117128171		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128171C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.697G>A	6.37:g.117128171C>T	ENSP00000309493:p.Glu233Lys					GPRC6A_uc003pxk.1_Missense_Mutation_p.E233K|GPRC6A_uc003pxl.1_Missense_Mutation_p.E233K	p.E233K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	719	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	233			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.697G>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	3.227	-0.158339	0.06544	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.82344	-1.6;-1.6;-1.6	5.97	1.81	0.25067	Extracellular ligand-binding receptor (1);	1.025740	0.07759	N	0.949828	T	0.49508	0.1561	L	0.31371	0.925	0.09310	N	1	B;B;B	0.25105	0.118;0.008;0.032	B;B;B	0.21151	0.031;0.014;0.033	T	0.33189	-0.9878	10	0.20519	T	0.43	.	4.027	0.09692	0.2815:0.4084:0.0:0.3101	.	233;233;233	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	K	233	ENSP00000309493:E233K;ENSP00000357537:E233K;ENSP00000433465:E233K	ENSP00000309493:E233K	E	-	1	0	GPRC6A	117234864	0.000000	0.05858	0.031000	0.17742	0.120000	0.20174	-0.278000	0.08490	0.429000	0.26202	0.655000	0.94253	GAA		0.403	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			6	56	0	0	0	0.001168	0	6	56				
GOPC	57120	broad.mit.edu	37	6	117896503	117896503	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:117896503C>G	ENST00000368498.2	-	4	562	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	GOPC_ENST00000467125.1_5'Flank|GOPC_ENST00000052569.6_Missense_Mutation_p.E155Q|GOPC_ENST00000535237.1_Missense_Mutation_p.E163Q	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	163					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TTGTTTGCCTCAAGCTCTCTT	0.323			O	ROS1	glioblastoma																																		uc003pxu.2		NA		Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma		0				ovary(1)	1						c.(487-489)GAG>CAG		golgi associated PDZ and coiled-coil motif							68.0	60.0	63.0					6																	117896503		2203	4300	6503	SO:0001583	missense	57120				apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding	g.chr6:117896503C>G	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.487G>C	6.37:g.117896503C>G	ENSP00000357484:p.Glu163Gln					GOPC_uc003pxq.1_5'Flank|GOPC_uc003pxv.2_Missense_Mutation_p.E155Q|GOPC_uc010keg.1_RNA	p.E163Q	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	4	717	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)	163			Potential.		A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.487G>C	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235725	0.58886	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	D;D;T	0.86097	-1.8;-2.07;2.33	5.65	4.77	0.60923	.	0.117868	0.64402	D	0.000009	T	0.74839	0.3769	L	0.45581	1.43	0.39493	D	0.968073	P;P	0.43094	0.799;0.698	B;B	0.39339	0.297;0.156	T	0.77910	-0.2411	10	0.42905	T	0.14	-15.0669	14.9752	0.71267	0.0:0.9302:0.0:0.0698	.	155;163	Q9HD26-2;Q9HD26	.;GOPC_HUMAN	Q	155;163;163	ENSP00000052569:E155Q;ENSP00000357484:E163Q;ENSP00000445690:E163Q	ENSP00000052569:E155Q	E	-	1	0	GOPC	118003196	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.064000	0.57506	2.660000	0.90430	0.591000	0.81541	GAG		0.323	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		2	12	0	0	0	0.004672	0	2	12				
LAMA2	3908	broad.mit.edu	37	6	129785585	129785585	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:129785585C>A	ENST00000421865.2	+	50	7192	c.7143C>A	c.(7141-7143)gcC>gcA	p.A2381A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2381	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTATCTTGCCACACGAGACC	0.418																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(7141-7143)GCC>GCA		laminin alpha 2 subunit isoform a precursor							245.0	204.0	218.0					6																	129785585		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129785585C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7143C>A	6.37:g.129785585C>A						LAMA2_uc003qbo.2_Silent_p.A2381A	p.A2381A	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	49	7248	+			2381			Laminin G-like 2.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.7143C>A	CCDS5138.1																																																																																				0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			24	143	1	0	9.65021e-13	0.010818	1.4572e-12	24	143				
SAMD3	154075	broad.mit.edu	37	6	130465927	130465927	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:130465927A>G	ENST00000368134.2	-	14	1909	c.1301T>C	c.(1300-1302)tTg>tCg	p.L434S	SAMD3_ENST00000439090.2_Missense_Mutation_p.L434S|RP11-73O6.3_ENST00000609978.1_RNA|SAMD3_ENST00000437477.2_Missense_Mutation_p.L434S|SAMD3_ENST00000457563.2_Missense_Mutation_p.L458S|RP11-73O6.3_ENST00000415964.1_RNA	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	434										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTAACTTCCAACACAGGTGT	0.383																																							uc003qbv.2		NA																	0				ovary(1)	1						c.(1300-1302)TTG>TCG		sterile alpha motif domain containing 3 isoform							36.0	37.0	37.0					6																	130465927		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130465927A>G	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1301T>C	6.37:g.130465927A>G	ENSP00000357116:p.Leu434Ser					SAMD3_uc003qbx.2_Missense_Mutation_p.L434S|SAMD3_uc003qbw.2_Missense_Mutation_p.L434S	p.L434S	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	13	1627	-			434					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.1301T>C	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565301	0.45694	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000463253	T;T;T;T	0.60797	0.19;0.16;0.19;0.19	5.22	5.22	0.72569	.	0.000000	0.46758	D	0.000277	T	0.66268	0.2772	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.70464	-0.4864	10	0.59425	D	0.04	.	13.962	0.64185	1.0:0.0:0.0:0.0	.	434	Q8N6K7	SAMD3_HUMAN	S	434;458;434;434;75	ENSP00000357116:L434S;ENSP00000402092:L458S;ENSP00000403565:L434S;ENSP00000391163:L434S	ENSP00000357116:L434S	L	-	2	0	SAMD3	130507620	1.000000	0.71417	0.998000	0.56505	0.120000	0.20174	5.993000	0.70616	2.090000	0.63153	0.460000	0.39030	TTG		0.383	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		4	22	0	0	0	0.009096	0	4	22				
SLC2A12	154091	broad.mit.edu	37	6	134349965	134349965	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:134349965G>A	ENST00000275230.5	-	2	1153	c.998C>T	c.(997-999)cCt>cTt	p.P333L		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	333					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGAGTGGCAGGGATGGTGCT	0.502																																					Melanoma(122;1663 1672 14489 35294 41228)	Melanoma(122;1663 1672 14489 35294 41228)	uc003qem.1		NA																	0				ovary(1)	1						c.(997-999)CCT>CTT		solute carrier family 2 (facilitated glucose							89.0	74.0	79.0					6																	134349965		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134349965G>A	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.998C>T	6.37:g.134349965G>A	ENSP00000275230:p.Pro333Leu						p.P333L	NM_145176	NP_660159	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	1169	-	Breast(56;0.214)|Colorectal(23;0.221)		333			Helical; (Potential).		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.998C>T	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724726	0.48833	.	.	ENSG00000146411	ENST00000275230	T	0.72942	-0.7	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	N	0.25031	0.7	0.80722	D	1	B	0.25441	0.126	B	0.23150	0.044	T	0.43065	-0.9414	10	0.29301	T	0.29	-15.3781	18.6483	0.91419	0.0:0.0:1.0:0.0	.	333	Q8TD20	GTR12_HUMAN	L	333	ENSP00000275230:P333L	ENSP00000275230:P333L	P	-	2	0	SLC2A12	134391658	1.000000	0.71417	0.960000	0.40013	0.559000	0.35586	7.632000	0.83247	2.426000	0.82243	0.467000	0.42956	CCT		0.502	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			20	69	0	0	0	0.012319	0	20	69				
MAP7	9053	broad.mit.edu	37	6	136704871	136704871	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:136704871T>C	ENST00000354570.3	-	6	985	c.575A>G	c.(574-576)gAt>gGt	p.D192G	MAP7_ENST00000454590.1_Missense_Mutation_p.D214G|MAP7_ENST00000544465.1_Missense_Mutation_p.D177G|MAP7_ENST00000432797.2_Missense_Mutation_p.D46G|MAP7_ENST00000438100.2_Intron	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	192					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AATGACGGGATCAACATATTT	0.393																																							uc003qgz.2		NA																	0					0						c.(574-576)GAT>GGT		microtubule-associated protein 7							131.0	125.0	127.0					6																	136704871		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136704871T>C	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.575A>G	6.37:g.136704871T>C	ENSP00000346581:p.Asp192Gly					MAP7_uc011edf.1_Missense_Mutation_p.D177G|MAP7_uc011edg.1_Missense_Mutation_p.D214G|MAP7_uc010kgu.2_Missense_Mutation_p.D214G|MAP7_uc011edh.1_Intron|MAP7_uc010kgv.2_Missense_Mutation_p.D214G|MAP7_uc010kgs.2_Missense_Mutation_p.D46G|MAP7_uc011edi.1_Missense_Mutation_p.D46G|MAP7_uc010kgq.1_Missense_Mutation_p.D98G|MAP7_uc003qha.1_Intron|MAP7_uc010kgr.2_Missense_Mutation_p.D46G|MAP7_uc010kgt.2_Missense_Mutation_p.D214G	p.D192G	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	6	821	-	Colorectal(23;0.24)		192					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.575A>G	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382263	0.61845	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000432797;ENST00000345567	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000013	T	0.16128	0.0388	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.998;0.996;0.996;0.998;0.996	T	0.00695	-1.1606	10	0.46703	T	0.11	-30.5465	16.6438	0.85155	0.0:0.0:0.0:1.0	.	214;177;214;214;98;192	B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244	.;.;.;.;.;MAP7_HUMAN	G	192;214;177;46;98	ENSP00000346581:D192G;ENSP00000414712:D214G;ENSP00000445737:D177G;ENSP00000414879:D46G	ENSP00000344217:D98G	D	-	2	0	MAP7	136746564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.333000	0.79357	0.533000	0.62120	GAT		0.393	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		18	43	0	0	0	0.00278	0	18	43				
KIAA1244	57221	broad.mit.edu	37	6	138576768	138576768	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:138576768C>G	ENST00000251691.4	+	10	1132	c.966C>G	c.(964-966)atC>atG	p.I322M		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTCGGACTATCTATTACATCG	0.652																																							uc003qhu.2		NA																	0				ovary(1)|skin(1)	2						c.(964-966)ATC>ATG		brefeldin A-inhibited guanine							35.0	36.0	35.0					6																	138576768		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138576768C>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.966C>G	6.37:g.138576768C>G	ENSP00000251691:p.Ile322Met						p.I322M	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	10	966	+	Breast(32;0.135)		322						Missense_Mutation	SNP	ENST00000251691.4	37	c.966C>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278214	0.59758	.	.	ENSG00000112379	ENST00000251691	T	0.05447	3.44	5.68	2.39	0.29439	.	0.155802	0.64402	D	0.000017	T	0.04952	0.0133	M	0.61703	1.905	0.36889	D	0.889797	D	0.54397	0.966	P	0.50440	0.641	T	0.20405	-1.0276	10	0.87932	D	0	-27.497	4.4933	0.11824	0.1585:0.445:0.0:0.3965	.	322	Q5TH69	BIG3_HUMAN	M	322	ENSP00000251691:I322M	ENSP00000251691:I322M	I	+	3	3	KIAA1244	138618461	0.849000	0.29639	0.999000	0.59377	0.895000	0.52256	-0.035000	0.12205	0.713000	0.32060	0.655000	0.94253	ATC		0.652	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	53	0	0	0	0.001984	0	6	53				
ECT2L	345930	broad.mit.edu	37	6	139222088	139222088	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:139222088C>G	ENST00000423192.1	+	20	2579	c.2418C>G	c.(2416-2418)ctC>ctG	p.L806L	ECT2L_ENST00000367682.2_Silent_p.L806L|ECT2L_ENST00000541398.1_Silent_p.L660L			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	806							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AACACAGGCTCTATGAACACA	0.393			"""N, Splice, Mis"""		ETP ALL																																		uc003qif.1		NA		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(2416-2418)CTC>CTG		epithelial cell transforming sequence 2							114.0	100.0	104.0					6																	139222088		1923	4146	6069	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139222088C>G		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2418C>G	6.37:g.139222088C>G						ECT2L_uc011edq.1_Silent_p.L660L	p.L806L	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			19	2521	+			806					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.2418C>G	CCDS43508.1																																																																																				0.393	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		4	22	0	0	0	0.000602	0	4	22				
UTRN	7402	broad.mit.edu	37	6	144812227	144812227	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:144812227G>C	ENST00000367545.3	+	31	4426	c.4426G>C	c.(4426-4428)Gac>Cac	p.D1476H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1476	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACGCACCTGGACAAGTGTAT	0.522																																							uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(4426-4428)GAC>CAC		utrophin							153.0	125.0	135.0					6																	144812227		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144812227G>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4426G>C	6.37:g.144812227G>C	ENSP00000356515:p.Asp1476His						p.D1476H	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	31	4518	+		Ovarian(120;0.218)	1476			Spectrin 10.|Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4426G>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968792	0.74131	.	.	ENSG00000152818	ENST00000367545	T	0.17213	2.29	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000038	T	0.23451	0.0567	M	0.62723	1.935	0.80722	D	1	P	0.51147	0.942	P	0.50162	0.633	T	0.00735	-1.1588	10	0.66056	D	0.02	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	1476	P46939	UTRO_HUMAN	H	1476	ENSP00000356515:D1476H	ENSP00000356515:D1476H	D	+	1	0	UTRN	144853920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.300000	0.51834	2.831000	0.97527	0.650000	0.86243	GAC		0.522	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			14	72	0	0	0	0.004007	0	14	72				
ARID1B	57492	broad.mit.edu	37	6	157528080	157528080	+	Silent	SNP	G	G	T	rs372334858		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:157528080G>T	ENST00000350026.5	+	19	5767	c.5766G>T	c.(5764-5766)gcG>gcT	p.A1922A	ARID1B_ENST00000367148.1_Silent_p.A1975A|ARID1B_ENST00000275248.4_Silent_p.A1917A|ARID1B_ENST00000346085.5_Silent_p.A1935A	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCATCGCGCACTGGCAGG	0.537																																							uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(5749-5751)GCG>GCT		AT rich interactive domain 1B (SWI1-like)		G	,	0,4406		0,0,2203	110.0	110.0	110.0		5766,5805	-4.5	0.5	6		110	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	ARID1B	NM_017519.2,NM_020732.3	,	0,1,6498	TT,TG,GG		0.0116,0.0,0.0077	,	1922/2237,1935/2250	157528080	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528080G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5766G>T	6.37:g.157528080G>T						ARID1B_uc003qqo.2_Silent_p.A1877A|ARID1B_uc003qqp.2_Silent_p.A1864A	p.A1917A	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5903	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1922					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.5751G>T	CCDS5251.2																																																																																				0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		19	112	1	0	1.2644e-06	0.010504	1.55749e-06	19	112				
WIPI2	26100	broad.mit.edu	37	7	5266859	5266859	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:5266859C>T	ENST00000288828.4	+	10	1129	c.897C>T	c.(895-897)ctC>ctT	p.L299L	WIPI2_ENST00000404704.3_Silent_p.L299L|WIPI2_ENST00000401525.3_Silent_p.L281L|WIPI2_ENST00000484262.1_Silent_p.L240L|WIPI2_ENST00000382384.2_Silent_p.L281L	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	299					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GGAAAGTGCTCATGGCCTCCA	0.612																																							uc003snv.2		NA																	0				ovary(2)	2						c.(895-897)CTC>CTT		WD repeat domain, phosphoinositide interacting 2							94.0	85.0	88.0					7																	5266859		2203	4300	6503	SO:0001819	synonymous_variant	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5266859C>T		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.897C>T	7.37:g.5266859C>T						WIPI2_uc003snw.2_Silent_p.L299L|WIPI2_uc003snx.2_Silent_p.L281L|WIPI2_uc003sny.2_Silent_p.L281L|WIPI2_uc010ksv.2_Silent_p.L155L|WIPI2_uc003soa.2_Silent_p.L240L|WIPI2_uc003sob.2_Silent_p.L42L	p.L299L	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	10	1113	+		Ovarian(82;0.0175)	299					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	ENST00000288828.4	37	c.897C>T	CCDS5339.1																																																																																				0.612	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		10	120	0	0	0	0.010729	0	10	120				
TNRC18	84629	broad.mit.edu	37	7	5355642	5355642	+	Silent	SNP	C	C	A	rs537060913	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:5355642C>A	ENST00000430969.1	-	25	7155	c.6807G>T	c.(6805-6807)acG>acT	p.T2269T	TNRC18_ENST00000399537.4_Silent_p.T2269T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2269							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGATCCTGCCCGTGTCTCCGT	0.617																																							uc003soi.3		NA																	0					0						c.(6805-6807)ACG>ACT		trinucleotide repeat containing 18							55.0	50.0	52.0					7																	5355642		1568	3582	5150	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5355642C>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6807G>T	7.37:g.5355642C>A							p.T2269T	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	25	7156	-		Ovarian(82;0.142)	2269					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.6807G>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	1.098	-0.662081	0.03454	.	.	ENSG00000182095	ENST00000328270	.	.	.	4.46	-8.93	0.00771	.	.	.	.	.	T	0.32882	0.0844	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43065	-0.9414	4	.	.	.	.	1.0836	0.01647	0.2816:0.3114:0.198:0.209	.	.	.	.	W	83	.	.	G	-	1	0	TNRC18	5322168	0.000000	0.05858	0.510000	0.27712	0.314000	0.28054	-6.806000	0.00053	-3.202000	0.00217	-1.890000	0.00535	GGG		0.617	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	44	1	0	3.86212e-05	0.008291	4.46541e-05	9	44				
FBXL18	80028	broad.mit.edu	37	7	5541559	5541559	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:5541559T>G	ENST00000382368.3	-	3	464	c.341A>C	c.(340-342)cAc>cCc	p.H114P	FBXL18_ENST00000453700.3_Missense_Mutation_p.H114P	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	114									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGGGCCACGTGTTCCACGGT	0.657																																							uc003soo.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(340-342)CAC>CCC		F-box and leucine-rich repeat protein 18							12.0	16.0	15.0					7																	5541559		2105	4222	6327	SO:0001583	missense	80028							g.chr7:5541559T>G	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.341A>C	7.37:g.5541559T>G	ENSP00000371805:p.His114Pro					FBXL18_uc003son.3_Missense_Mutation_p.H114P	p.H114P	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	435	-		Ovarian(82;0.0607)	114			LRR 2.		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.341A>C	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937515	0.34189	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.00949	5.51;5.51	5.22	5.22	0.72569	.	0.410146	0.28527	N	0.015038	T	0.00875	0.0029	N	0.14661	0.345	0.32063	N	0.595434	P;B	0.41265	0.744;0.256	B;B	0.40825	0.341;0.176	T	0.58364	-0.7649	10	0.33940	T	0.23	.	9.6832	0.40082	0.1548:0.0:0.0:0.8452	.	114;114	F5H4Z4;Q96ME1-4	.;.	P	114	ENSP00000371805:H114P;ENSP00000444797:H114P	ENSP00000311990:H114P	H	-	2	0	FBXL18	5508085	0.997000	0.39634	0.960000	0.40013	0.914000	0.54420	2.638000	0.46562	1.978000	0.57642	0.533000	0.62120	CAC		0.657	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		10	13	0	0	0	0.008291	0	10	13				
THSD7A	221981	broad.mit.edu	37	7	11521485	11521485	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:11521485G>T	ENST00000423059.4	-	7	2198	c.1947C>A	c.(1945-1947)acC>acA	p.T649T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	649	TSP type-1 6. {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)				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)		TCCCTGAGCAGGTGTGTGAGC	0.567										HNSCC(18;0.044)																													uc003ssf.3		NA																	0				ovary(3)	3						c.(1945-1947)ACC>ACA		thrombospondin, type I, domain containing 7A							138.0	135.0	136.0					7																	11521485		2133	4245	6378	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11521485G>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.1947C>A	7.37:g.11521485G>T		HNSCC(18;0.044)					p.T649T	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	7	2199	-			649			TSP type-1 6.|Extracellular (Potential).			Silent	SNP	ENST00000423059.4	37	c.1947C>A	CCDS47543.1																																																																																				0.567	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		34	91	1	0	6.2361e-21	0.007835	1.07034e-20	34	91				
HDAC9	9734	broad.mit.edu	37	7	18705890	18705890	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:18705890G>T	ENST00000432645.2	+	11	1513	c.1513G>T	c.(1513-1515)Gca>Tca	p.A505S	HDAC9_ENST00000417496.2_Missense_Mutation_p.A503S|HDAC9_ENST00000456174.2_Missense_Mutation_p.A477S|HDAC9_ENST00000405010.3_Missense_Mutation_p.A505S|HDAC9_ENST00000428307.2_Missense_Mutation_p.A461S|HDAC9_ENST00000401921.1_Missense_Mutation_p.A464S|HDAC9_ENST00000524023.1_Missense_Mutation_p.A428S|HDAC9_ENST00000441542.2_Missense_Mutation_p.A508S|HDAC9_ENST00000406451.4_Missense_Mutation_p.A505S|HDAC9_ENST00000406072.1_Missense_Mutation_p.A492S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	505					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTTGAGGAAGCAGAGGAAGA	0.512											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1513-1515)GCA>TCA		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						121.0	125.0	124.0					7																	18705890		1993	4163	6156	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18705890G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1513G>T	7.37:g.18705890G>T	ENSP00000410337:p.Ala505Ser		OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	727	HDAC9_uc003sue.2_Missense_Mutation_p.A505S|HDAC9_uc011jyd.1_Missense_Mutation_p.A505S|HDAC9_uc003sui.2_Missense_Mutation_p.A508S|HDAC9_uc003suj.2_Missense_Mutation_p.A464S|HDAC9_uc011jya.1_Missense_Mutation_p.A502S|HDAC9_uc003sua.1_Missense_Mutation_p.A483S|HDAC9_uc011jyb.1_Missense_Mutation_p.A461S|HDAC9_uc003sud.1_Missense_Mutation_p.A505S|HDAC9_uc011jyc.1_Missense_Mutation_p.A464S|HDAC9_uc003suf.1_Missense_Mutation_p.A536S|HDAC9_uc010kud.1_Missense_Mutation_p.A508S|HDAC9_uc011jye.1_Missense_Mutation_p.A477S|HDAC9_uc011jyf.1_Missense_Mutation_p.A428S|HDAC9_uc010kue.1_Intron	p.A505S	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			11	1554	+	all_lung(11;0.187)		505					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1513G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	9.756	1.168796	0.21621	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023	T;T;T;T;T;T;T;T;T;T	0.56776	1.01;1.01;0.44;1.02;1.02;0.45;0.44;0.44;1.01;1.02	5.77	4.81	0.61882	.	0.098590	0.44285	D	0.000480	T	0.32763	0.0840	N	0.13043	0.29	0.43351	D	0.995418	B;B;B;B;B;B;B;B;B;B;B;B;B	0.31077	0.0;0.003;0.005;0.013;0.001;0.016;0.208;0.047;0.003;0.016;0.047;0.002;0.307	B;B;B;B;B;B;B;B;B;B;B;B;B	0.26310	0.001;0.002;0.01;0.004;0.001;0.007;0.068;0.015;0.002;0.007;0.015;0.005;0.031	T	0.14699	-1.0463	10	0.32370	T	0.25	-12.9974	11.8528	0.52422	0.071:0.0:0.7962:0.1328	.	428;477;505;492;503;508;464;508;505;477;505;505;483	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	S	503;506;505;505;461;492;464;505;508;477;428	ENSP00000401669:A503S;ENSP00000384382:A505S;ENSP00000384657:A505S;ENSP00000395655:A461S;ENSP00000384017:A492S;ENSP00000383912:A464S;ENSP00000410337:A505S;ENSP00000408617:A508S;ENSP00000388568:A477S;ENSP00000430036:A428S	ENSP00000262069:A506S	A	+	1	0	HDAC9	18672415	1.000000	0.71417	0.998000	0.56505	0.642000	0.38348	3.615000	0.54167	2.711000	0.92665	0.650000	0.86243	GCA		0.512	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			49	102	1	0	1.1362e-29	0.01441	2.04318e-29	49	102				
CLK2P1	1197	broad.mit.edu	37	7	23625385	23625385	+	IGR	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:23625385G>C								TRA2A (53725 upstream) : CCDC126 (11612 downstream)																							TGGTGCACTTGGTGGATGGGG	0.507																																							uc003swk.2		NA																	0					0						c.(112-114)CAA>GAA		SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2;																																				SO:0001628	intergenic_variant	1197							g.chr7:23625385G>C																													7.37:g.23625385G>C							p.Q38E	NR_002711						1	762	-									Missense_Mutation	SNP		37	c.112C>G																																																																																				0	0.507									4	42	0	0	0	0.009096	0	4	42				
GLI3	2737	broad.mit.edu	37	7	42004379	42004379	+	Missense_Mutation	SNP	G	G	T	rs144128064		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:42004379G>T	ENST00000395925.3	-	15	4376	c.4292C>A	c.(4291-4293)cCg>cAg	p.P1431Q	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1431					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGAGCACAGCGGATGGGGCTG	0.512									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19	GRCh37	CI992016	GLI3	I	rs144128064	c.(4291-4293)CCG>CAG		GLI-Kruppel family member GLI3							71.0	74.0	73.0					7																	42004379		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004379G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4292C>A	7.37:g.42004379G>T	ENSP00000379258:p.Pro1431Gln					GLI3_uc011kbg.1_Missense_Mutation_p.P1372Q	p.P1431Q	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	4383	-			1431					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.4292C>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.368997	0.00209	.	.	ENSG00000106571	ENST00000395925	T	0.11604	2.76	5.62	1.82	0.25136	.	0.271354	0.37178	N	0.002202	T	0.06234	0.0161	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29305	-1.0016	10	0.02654	T	1	.	13.1092	0.59263	0.0:0.0:0.4398:0.5602	.	1431	P10071	GLI3_HUMAN	Q	1431	ENSP00000379258:P1431Q	ENSP00000379258:P1431Q	P	-	2	0	GLI3	41970904	0.453000	0.25721	0.890000	0.34922	0.034000	0.12701	0.677000	0.25262	0.425000	0.26087	0.655000	0.94253	CCG		0.512	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		17	132	1	0	1.5739e-10	0.004007	2.24572e-10	17	132				
MRPL32	64983	broad.mit.edu	37	7	42972003	42972003	+	Silent	SNP	G	G	T	rs113789800	byFrequency	TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:42972003G>T	ENST00000223324.2	+	1	205	c.18G>T	c.(16-18)ctG>ctT	p.L6L	PSMA2_ENST00000442788.1_5'Flank|PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000445517.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	6					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TGGCCATGCTGGTCTTGGTGG	0.642																																							uc003tia.2		NA																	0					0						c.(16-18)CTG>CTT		mitochondrial ribosomal protein L32 precursor							55.0	58.0	57.0					7																	42972003		2203	4300	6503	SO:0001819	synonymous_variant	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42972003G>T	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.18G>T	7.37:g.42972003G>T						C7orf25_uc010kxr.2_5'Flank|PSMA2_uc003thy.2_5'Flank|PSMA2_uc010kxt.2_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_5'UTR	p.L6L	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			1	65	+			6					Q96Q68|Q9P098	Silent	SNP	ENST00000223324.2	37	c.18G>T	CCDS5468.1																																																																																				0.642	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		19	65	1	0	7.45023e-12	0.010504	1.09314e-11	19	65				
ADCY1	107	broad.mit.edu	37	7	45743283	45743283	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:45743283G>A	ENST00000297323.7	+	16	2678	c.2656G>A	c.(2656-2658)Ggc>Agc	p.G886S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	886					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGAGCTGGACGGCAACAACAT	0.567																																							uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2656-2658)GGC>AGC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						150.0	134.0	140.0					7																	45743283		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45743283G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2656G>A	7.37:g.45743283G>A	ENSP00000297323:p.Gly886Ser						p.G886S	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			16	2674	+			886			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2656G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.756958	0.69648	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.29142	1.58	5.04	5.04	0.67666	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	N	0.11673	0.155	0.80722	D	1	D	0.53151	0.958	P	0.47864	0.559	T	0.10706	-1.0618	10	0.66056	D	0.02	.	15.9199	0.79556	0.0:0.0:1.0:0.0	.	886	Q08828	ADCY1_HUMAN	S	886	ENSP00000297323:G886S	ENSP00000297323:G886S	G	+	1	0	ADCY1	45709808	1.000000	0.71417	0.998000	0.56505	0.117000	0.20001	9.109000	0.94291	2.614000	0.88457	0.305000	0.20034	GGC		0.567	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		5	275	0	0	0	0.001168	0	5	275				
EGFR	1956	broad.mit.edu	37	7	55227989	55227989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:55227989C>T	ENST00000275493.2	+	12	1633	c.1456C>T	c.(1456-1458)Cag>Tag	p.Q486*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.Q441*|EGFR_ENST00000442591.1_Nonsense_Mutation_p.Q486*|EGFR_ENST00000344576.2_Nonsense_Mutation_p.Q486*|EGFR_ENST00000342916.3_Nonsense_Mutation_p.Q486*|EGFR_ENST00000454757.2_Nonsense_Mutation_p.Q433*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	486					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GACCTCCGGTCAGAAAACCAA	0.373		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1456-1458)CAG>TAG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						48.0	50.0	49.0					7																	55227989		2203	4300	6503	SO:0001587	stop_gained	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55227989C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1456C>T	7.37:g.55227989C>T	ENSP00000275493:p.Gln486*	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Nonsense_Mutation_p.Q486*|EGFR_uc003tqj.2_Nonsense_Mutation_p.Q486*|EGFR_uc010kzg.1_Nonsense_Mutation_p.Q441*|EGFR_uc011kco.1_Nonsense_Mutation_p.Q433*|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	p.Q486*	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		12	1702	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		486			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	37	c.1456C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	39	7.645245	0.98409	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.3244	0.90248	0.0:1.0:0.0:0.0	.	.	.	.	X	441;486;356;486;486;486;433;280	.	ENSP00000275493:Q486X	Q	+	1	0	EGFR	55195483	1.000000	0.71417	0.964000	0.40570	0.833000	0.47200	5.689000	0.68234	2.671000	0.90904	0.650000	0.86243	CAG		0.373	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		6	35	0	0	0	0.001168	0	6	35				
NCF1B	654816	broad.mit.edu	37	7	72640002	72640002	+	RNA	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:72640002T>A	ENST00000423083.1	+	0	158					NR_003186.1		A6NI72	NCF1B_HUMAN	neutrophil cytosolic factor 1B pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol binding (GO:0035091)|superoxide-generating NADPH oxidase activity (GO:0016175)										CTCATGAGCCTGCCCACCAAG	0.597																																							uc011kes.1		NA																	0					0						c.(232-234)CTG>CAG		neutrophil cytosolic factor 1																																						654816							g.chr7:72640002T>A			7q11.23	2014-03-20	2006-09-19		ENSG00000182487	ENSG00000182487			32522	pseudogene	pseudogene			"""neutrophil cytosolic factor 1B"""				Standard	NR_003186		Approved	SH3PXD1B	uc011ker.1	A6NI72	OTTHUMG00000156804		7.37:g.72640002T>A						FKBP6_uc003twz.2_Intron|NCF1B_uc011ker.1_Missense_Mutation_p.L80Q	p.L78Q	NM_000265	NP_000256					3	237	+									Missense_Mutation	SNP	ENST00000423083.1	37	c.233T>A																																																																																					0.597	NCF1B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345924.1	NR_003186		4	26	0	0	0	0.001984	0	4	26				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72662628	72662628	+	RNA	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:72662628C>A	ENST00000425256.1	-	0	988									GTF2I repeat domain containing 2 pseudogene 1																		AGCTCAAGCCCTGGAAGCGGC	0.443																																							uc003txs.1		NA																	0					0						c.(61-63)GGG>TGG		RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta;																																						401375							g.chr7:72662628C>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72662628C>A						FKBP6_uc003twz.2_Intron	p.G21W	NR_002164						12	989	-									Missense_Mutation	SNP	ENST00000425256.1	37	c.61G>T																																																																																					0.443	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		27	218	1	0	1.02591e-13	0.010771	1.56914e-13	27	218				
PCLO	27445	broad.mit.edu	37	7	82474737	82474737	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:82474737T>A	ENST00000333891.9	-	13	14233	c.13896A>T	c.(13894-13896)tcA>tcT	p.S4632S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Silent_p.S4632S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGCTGTAGTGAAACCTTCT	0.468																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(13894-13896)TCA>TCT		piccolo isoform 1							83.0	83.0	83.0					7																	82474737		1943	4143	6086	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474737T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13896A>T	7.37:g.82474737T>A						PCLO_uc003uhv.2_Silent_p.S4632S|PCLO_uc003uht.1_Silent_p.S83S|PCLO_uc003uhu.1_Silent_p.S62S	p.S4632S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			13	14185	-			4520						Silent	SNP	ENST00000333891.9	37	c.13896A>T	CCDS47630.1																																																																																				0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	19	0	0	0	0.001984	0	6	19				
SEMA3D	223117	broad.mit.edu	37	7	84651838	84651838	+	Missense_Mutation	SNP	T	T	G	rs374391942		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:84651838T>G	ENST00000284136.6	-	11	1326	c.1283A>C	c.(1282-1284)tAt>tCt	p.Y428S	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	428	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TACGGACTTATACATCACAGA	0.428																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	0				ovary(3)|large_intestine(2)	5						c.(1282-1284)TAT>TCT		semaphorin 3D precursor							245.0	215.0	225.0					7																	84651838		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84651838T>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1283A>C	7.37:g.84651838T>G	ENSP00000284136:p.Tyr428Ser					SEMA3D_uc010led.2_Missense_Mutation_p.Y428S|SEMA3D_uc003uib.2_Missense_Mutation_p.Y67S	p.Y428S	NM_152754	NP_689967	O95025	SEM3D_HUMAN			11	1323	-			428			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1283A>C	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.603657	0.66445	.	.	ENSG00000153993	ENST00000284136	T	0.10573	2.86	5.67	3.22	0.36961	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.163751	0.56097	D	0.000028	T	0.19406	0.0466	L	0.52905	1.665	0.80722	D	1	D	0.63880	0.993	P	0.54238	0.746	T	0.00343	-1.1802	10	0.72032	D	0.01	.	10.8226	0.46614	0.2651:0.0:0.0:0.7349	.	428	O95025	SEM3D_HUMAN	S	428	ENSP00000284136:Y428S	ENSP00000284136:Y428S	Y	-	2	0	SEMA3D	84489774	1.000000	0.71417	0.995000	0.50966	0.578000	0.36192	3.418000	0.52721	0.374000	0.24650	0.455000	0.32223	TAT		0.428	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		25	193	0	0	0	0.00632	0	25	193				
CDK6	1021	broad.mit.edu	37	7	92244469	92244469	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:92244469C>A	ENST00000265734.4	-	8	1377	c.966G>T	c.(964-966)gaG>gaT	p.E322D	CDK6_ENST00000424848.2_Missense_Mutation_p.E322D	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	322					astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTGTATTCAGCTCCGAGGTGT	0.577			T	MLLT10	ALL																																		uc011khw.1		NA		Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		0				central_nervous_system(1)|skin(1)	2						c.(964-966)GAG>GAT		cyclin-dependent kinase 6							76.0	68.0	71.0					7																	92244469		2203	4300	6503	SO:0001583	missense	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92244469C>A		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.966G>T	7.37:g.92244469C>A	ENSP00000265734:p.Glu322Asp					CDK6_uc010lez.2_Missense_Mutation_p.E322D	p.E322D	NM_001259	NP_001250	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		8	1378	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		322					A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	c.966G>T	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792882	0.50102	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.72051	-0.62;-0.62	6.06	5.17	0.71159	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	N	0.08118	0	0.42072	D	0.991217	B	0.29766	0.256	B	0.27262	0.078	T	0.53613	-0.8414	10	0.42905	T	0.14	-16.6138	14.1089	0.65109	0.0:0.9266:0.0:0.0734	.	322	Q00534	CDK6_HUMAN	D	322	ENSP00000265734:E322D;ENSP00000397087:E322D	ENSP00000265734:E322D	E	-	3	2	CDK6	92082405	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	1.817000	0.39002	1.534000	0.49203	0.655000	0.94253	GAG		0.577	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			12	27	1	0	1.05317e-09	0.00245	1.44549e-09	12	27				
NPTX2	4885	broad.mit.edu	37	7	98249103	98249103	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:98249103C>T	ENST00000265634.3	+	2	740	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	192					synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AATGAGACCTCGGCTCACCGG	0.652																																							uc003upl.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(574-576)TCG>TTG		neuronal pentraxin II precursor							40.0	40.0	40.0					7																	98249103		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98249103C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.575C>T	7.37:g.98249103C>T	ENSP00000265634:p.Ser192Leu						p.S192L	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	752	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		192					A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.575C>T	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933889	0.52866	.	.	ENSG00000106236	ENST00000265634	T	0.10192	2.9	4.81	4.81	0.61882	.	0.060017	0.64402	D	0.000004	T	0.10809	0.0264	L	0.60455	1.87	0.50039	D	0.999846	P	0.39737	0.685	B	0.25405	0.06	T	0.16541	-1.0399	10	0.27785	T	0.31	-5.6302	16.8738	0.86046	0.0:1.0:0.0:0.0	.	192	P47972	NPTX2_HUMAN	L	192	ENSP00000265634:S192L	ENSP00000265634:S192L	S	+	2	0	NPTX2	98087039	1.000000	0.71417	0.651000	0.29564	0.590000	0.36582	6.050000	0.71063	2.208000	0.71279	0.591000	0.81541	TCG		0.652	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		3	41	0	0	0	0.004672	0	3	41				
SMURF1	57154	broad.mit.edu	37	7	98654860	98654860	+	Nonsense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:98654860G>C	ENST00000361125.1	-	5	690	c.371C>G	c.(370-372)tCa>tGa	p.S124*	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Nonsense_Mutation_p.S124*	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	124					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ATCAGTATCTGAGGGGTTTAG	0.433																																							uc003upu.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(370-372)TCA>TGA		Smad ubiquitination regulatory factor 1 isoform							171.0	166.0	168.0					7																	98654860		2203	4300	6503	SO:0001587	stop_gained	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98654860G>C	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.371C>G	7.37:g.98654860G>C	ENSP00000354621:p.Ser124*					SMURF1_uc003upv.1_Nonsense_Mutation_p.S124*|SMURF1_uc003upt.2_Nonsense_Mutation_p.S124*	p.S124*	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		5	691	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		124					A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Nonsense_Mutation	SNP	ENST00000361125.1	37	c.371C>G	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	G	36	5.956805	0.97145	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	.	.	.	5.68	5.68	0.88126	.	0.167671	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.9764	0.89129	0.0:0.0:1.0:0.0	.	.	.	.	X	124	.	ENSP00000354621:S124X	S	-	2	0	SMURF1	98492796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.972000	0.76110	2.689000	0.91719	0.655000	0.94253	TCA		0.433	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		5	163	0	0	0	0.000602	0	5	163				
MUC17	140453	broad.mit.edu	37	7	100682521	100682521	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:100682521T>A	ENST00000306151.4	+	3	7888	c.7824T>A	c.(7822-7824)tcT>tcA	p.S2608S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2608	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCACCACTTCTACTGAAACCA	0.443																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7822-7824)TCT>TCA		mucin 17 precursor							251.0	254.0	253.0					7																	100682521		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682521T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7824T>A	7.37:g.100682521T>A						MUC17_uc010lho.1_RNA	p.S2608S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7877	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2608			Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7824T>A	CCDS34711.1																																																																																				0.443	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		65	415	0	0	0	0.01441	0	65	415				
SH2B2	10603	broad.mit.edu	37	7	101952100	101952100	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:101952100G>C	ENST00000536178.1	+	4	1009	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	SH2B2_ENST00000306803.8_Missense_Mutation_p.E279Q			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	279					actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TCCCCAGGTAGAGAATGGAGC	0.592																																							uc011kko.1		NA																	0					0						c.(964-966)GAG>CAG		SH2B adaptor protein 2							116.0	123.0	121.0					7																	101952100		2109	4235	6344	SO:0001583	missense	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101952100G>C	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.964G>C	7.37:g.101952100G>C	ENSP00000440273:p.Glu322Gln						p.E322Q	NM_020979	NP_066189	O14492	SH2B2_HUMAN			4	1009	+			279			PH.		A6ND74	Missense_Mutation	SNP	ENST00000536178.1	37	c.964G>C		.	.	.	.	.	.	.	.	.	.	.	15.40	2.823243	0.50739	.	.	ENSG00000160999	ENST00000536178;ENST00000444095;ENST00000306803	T;T;T	0.76060	-0.99;-0.99;-0.99	4.33	4.33	0.51752	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.052171	0.85682	D	0.000000	T	0.69611	0.3130	L	0.41236	1.265	0.37819	D	0.928322	B	0.29341	0.242	B	0.33799	0.17	T	0.75105	-0.3435	9	0.46703	T	0.11	-22.1803	17.0184	0.86427	0.0:0.0:1.0:0.0	.	279	O14492	SH2B2_HUMAN	Q	322;279;279	ENSP00000440273:E322Q;ENSP00000401883:E279Q;ENSP00000304701:E279Q	ENSP00000304701:E279Q	E	+	1	0	SH2B2	101738820	1.000000	0.71417	0.997000	0.53966	0.494000	0.33585	9.105000	0.94246	2.243000	0.73865	0.561000	0.74099	GAG		0.592	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		12	219	0	0	0	0.001855	0	12	219				
PUS7	54517	broad.mit.edu	37	7	105148818	105148818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:105148818G>A	ENST00000356362.2	-	2	356	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	PUS7_ENST00000469408.1_Nonsense_Mutation_p.Q48*	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	48					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AAGTCATTCTGTAGCCCATCT	0.478																																					Colon(138;2387 3051 17860)	Colon(138;2387 3051 17860)	uc003vcx.2		NA																	0				breast(1)	1						c.(142-144)CAG>TAG		pseudouridylate synthase 7 homolog							272.0	233.0	246.0					7																	105148818		2203	4300	6503	SO:0001587	stop_gained	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105148818G>A	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.142C>T	7.37:g.105148818G>A	ENSP00000348722:p.Gln48*					PUS7_uc010lji.2_Nonsense_Mutation_p.Q48*|PUS7_uc003vcy.2_Nonsense_Mutation_p.Q48*|PUS7_uc003vcz.1_Nonsense_Mutation_p.Q48*	p.Q48*	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			2	361	-			48					Q75MG4|Q9NX19	Nonsense_Mutation	SNP	ENST00000356362.2	37	c.142C>T	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430645	0.96150	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	.	.	.	5.62	4.74	0.60224	.	0.869894	0.10291	N	0.692260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-7.945	15.4599	0.75346	0.0:0.8548:0.1452:0.0	.	.	.	.	X	48	.	ENSP00000348722:Q48X	Q	-	1	0	PUS7	104936054	0.001000	0.12720	0.009000	0.14445	0.016000	0.09150	1.433000	0.34947	1.369000	0.46134	-0.311000	0.09066	CAG		0.478	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		22	123	0	0	0	0.014323	0	22	123				
GPR22	2845	broad.mit.edu	37	7	107115750	107115750	+	Silent	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:107115750C>G	ENST00000304402.4	+	3	2588	c.1245C>G	c.(1243-1245)acC>acG	p.T415T	COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	415					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AAAAAATTACCTTTGAAGATA	0.343																																							uc003vef.2		NA																	0				ovary(2)	2						c.(1243-1245)ACC>ACG		G protein-coupled receptor 22							29.0	33.0	32.0					7																	107115750		2188	4277	6465	SO:0001819	synonymous_variant	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107115750C>G	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.1245C>G	7.37:g.107115750C>G						COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	p.T415T	NM_005295	NP_005286	Q99680	GPR22_HUMAN			3	2591	+			415			Cytoplasmic (Potential).		O14554	Silent	SNP	ENST00000304402.4	37	c.1245C>G	CCDS5744.1																																																																																				0.343	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			9	31	0	0	0	0.006214	0	9	31				
LAMB4	22798	broad.mit.edu	37	7	107756451	107756451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:107756451C>A	ENST00000388781.3	-	3	273	c.190G>T	c.(190-192)Gag>Tag	p.E64*	LAMB4_ENST00000414450.2_Nonsense_Mutation_p.E64*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.E64*|LAMB4_ENST00000418464.1_Nonsense_Mutation_p.E64*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.E64*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	64	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAACCCACCTCCAGGTAACTG	0.478																																							uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(190-192)GAG>TAG		laminin, beta 4 precursor							72.0	78.0	76.0					7																	107756451		2203	4300	6503	SO:0001587	stop_gained	22798				cell adhesion	basement membrane		g.chr7:107756451C>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.190G>T	7.37:g.107756451C>A	ENSP00000373433:p.Glu64*					LAMB4_uc003vey.2_Nonsense_Mutation_p.E64*	p.E64*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			3	274	-			64			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Nonsense_Mutation	SNP	ENST00000388781.3	37	c.190G>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814321	0.90790	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	.	.	.	5.17	3.33	0.38152	.	0.126270	0.35320	N	0.003288	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.4513	0.44524	0.0:0.7925:0.1348:0.0727	.	.	.	.	X	64	.	ENSP00000205386:E64X	E	-	1	0	LAMB4	107543687	0.628000	0.27138	0.790000	0.31976	0.615000	0.37417	1.268000	0.33062	0.723000	0.32274	0.655000	0.94253	GAG		0.478	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		13	63	1	0	1.05317e-09	0.00245	1.44549e-09	13	63				
CFTR	1080	broad.mit.edu	37	7	117149133	117149133	+	Silent	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:117149133T>A	ENST00000003084.6	+	3	342	c.210T>A	c.(208-210)atT>atA	p.I70I	CFTR_ENST00000454343.1_Silent_p.I70I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	70					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CTAAACTCATTAATGCCCTTC	0.338									Cystic Fibrosis																														uc003vjd.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(208-210)ATT>ATA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						148.0	158.0	154.0					7																	117149133		2203	4300	6503	SO:0001819	synonymous_variant	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117149133T>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.210T>A	7.37:g.117149133T>A						CFTR_uc011knq.1_5'UTR	p.I70I	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		3	342	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		70			Cytoplasmic (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	c.210T>A	CCDS5773.1																																																																																				0.338	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		32	77	0	0	0	0.00874	0	32	77				
ING3	54556	broad.mit.edu	37	7	120606714	120606714	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:120606714G>T	ENST00000315870.5	+	6	547	c.399G>T	c.(397-399)gtG>gtT	p.V133V	ING3_ENST00000431467.1_Silent_p.V118V	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	133					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CACAGCCAGTGAACAATCACC	0.388																																							uc003vjn.2		NA																	0				ovary(1)	1						c.(397-399)GTG>GTT		inhibitor of growth family, member 3 isoform 1							214.0	192.0	200.0					7																	120606714		2203	4300	6503	SO:0001819	synonymous_variant	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120606714G>T	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.399G>T	7.37:g.120606714G>T						ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Silent_p.V133V|ING3_uc011kns.1_Silent_p.V118V	p.V133V	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN			6	533	+	all_neural(327;0.117)		133					A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Silent	SNP	ENST00000315870.5	37	c.399G>T	CCDS5778.1																																																																																				0.388	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		41	104	1	0	3.7469e-33	0.01441	6.76728e-33	41	104				
WNT16	51384	broad.mit.edu	37	7	120971841	120971841	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:120971841C>A	ENST00000222462.2	+	3	746	c.456C>A	c.(454-456)acC>acA	p.T152T	WNT16_ENST00000361301.2_Silent_p.T142T	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	152					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GTGACACCACCTTGCAGAACG	0.537																																							uc003vjw.2		NA																	0				lung(2)|ovary(2)|large_intestine(1)	5						c.(454-456)ACC>ACA		wingless-type MMTV integration site family,							60.0	57.0	58.0					7																	120971841		2203	4300	6503	SO:0001819	synonymous_variant	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120971841C>A	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.456C>A	7.37:g.120971841C>A						WNT16_uc003vjv.2_Silent_p.T142T|WNT16_uc010lkl.2_Intron	p.T152T	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN			3	713	+	all_neural(327;0.117)		152					Q2M3G1|Q9Y5C0	Silent	SNP	ENST00000222462.2	37	c.456C>A	CCDS5781.1																																																																																				0.537	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		17	49	1	0	6.44725e-10	0.014323	8.95272e-10	17	49				
AASS	10157	broad.mit.edu	37	7	121766473	121766473	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:121766473C>A	ENST00000393376.1	-	3	523	c.428G>T	c.(427-429)aGa>aTa	p.R143I	AASS_ENST00000417368.2_Missense_Mutation_p.R143I|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	143	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCGTACTCCTCTATGATCCAC	0.413																																							uc003vka.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(427-429)AGA>ATA		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						268.0	258.0	261.0					7																	121766473		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121766473C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.428G>T	7.37:g.121766473C>A	ENSP00000377040:p.Arg143Ile					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R143I|AASS_uc011knw.1_Intron	p.R143I	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			3	524	-			143			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.428G>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.912155	0.52439	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.79554	-1.28;-1.28	5.5	3.35	0.38373	Alanine dehydrogenase/PNT, N-terminal (1);	0.357425	0.35262	N	0.003329	T	0.73148	0.3550	L	0.43152	1.355	0.53005	D	0.999966	B	0.23650	0.089	B	0.23716	0.048	T	0.72007	-0.4420	10	0.54805	T	0.06	-5.0543	11.4862	0.50354	0.0:0.7785:0.0:0.2215	.	143	Q9UDR5	AASS_HUMAN	I	143	ENSP00000377040:R143I;ENSP00000403768:R143I	ENSP00000351834:R143I	R	-	2	0	AASS	121553709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.719000	0.38011	1.331000	0.45412	0.644000	0.83932	AGA		0.413	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		47	295	1	0	1.56989e-16	0.01441	2.54685e-16	47	295				
ZNF800	168850	broad.mit.edu	37	7	127014540	127014540	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:127014540G>C	ENST00000393313.1	-	5	1441	c.850C>G	c.(850-852)Cca>Gca	p.P284A	ZNF800_ENST00000265827.3_Missense_Mutation_p.P284A|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Missense_Mutation_p.P284A			Q2TB10	ZN800_HUMAN	zinc finger protein 800	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTACTTAATGGAACTAGAACA	0.358																																							uc003vlx.1		NA																	0				ovary(1)	1						c.(850-852)CCA>GCA		zinc finger protein 800							214.0	202.0	206.0					7																	127014540		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014540G>C	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.850C>G	7.37:g.127014540G>C	ENSP00000376989:p.Pro284Ala					ZNF800_uc003vlw.1_Missense_Mutation_p.P187A|ZNF800_uc003vly.1_Missense_Mutation_p.P284A|ZNF800_uc010lla.2_Missense_Mutation_p.P284A	p.P284A	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	1113	-			284					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.850C>G	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	0.377	-0.930806	0.02359	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14893	2.47;2.47;2.47	5.38	3.3	0.37823	.	0.177266	0.50627	D	0.000110	T	0.05456	0.0144	N	0.03608	-0.345	0.23351	N	0.997851	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17868	-1.0355	8	.	.	.	-0.1255	2.7401	0.05251	0.1075:0.1279:0.4434:0.3212	.	187;284	B7Z4V7;Q2TB10	.;ZN800_HUMAN	A	284	ENSP00000376989:P284A;ENSP00000265827:P284A;ENSP00000376988:P284A	.	P	-	1	0	ZNF800	126801776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.299000	0.43611	1.238000	0.43771	0.650000	0.86243	CCA		0.358	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		5	85	0	0	0	0.001168	0	5	85				
FSCN3	29999	broad.mit.edu	37	7	127235648	127235648	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:127235648C>A	ENST00000265825.5	+	2	651	c.432C>A	c.(430-432)gtC>gtA	p.V144V	FSCN3_ENST00000420086.2_Silent_p.V10V|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	144						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCCTCCATGTCCACGTGATCC	0.602																																							uc003vmd.1		NA																	0				ovary(1)	1						c.(430-432)GTC>GTA		fascin 3							100.0	83.0	89.0					7																	127235648		2203	4300	6503	SO:0001819	synonymous_variant	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235648C>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.432C>A	7.37:g.127235648C>A						FSCN3_uc003vmc.1_Silent_p.V99V|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Silent_p.V10V|FSCN3_uc010llc.1_Silent_p.V144V	p.V144V	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			2	651	+			144					A4D0Z2|A6NLL7|B2RA62|B4DU68	Silent	SNP	ENST00000265825.5	37	c.432C>A	CCDS34746.1																																																																																				0.602	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		11	79	1	0	9.31168e-06	0.001855	1.1107e-05	11	79				
CHRM2	1129	broad.mit.edu	37	7	136700977	136700977	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:136700977C>T	ENST00000445907.2	+	3	1893	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.L455L|CHRM2_ENST00000402486.3_Silent_p.L455L|CHRM2_ENST00000401861.1_Silent_p.L455L|CHRM2_ENST00000453373.1_Silent_p.L455L|CHRM2_ENST00000320658.5_Silent_p.L455L|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	455					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	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)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AACACCTTCTCATGTGTCATT	0.408																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1363-1365)CTC>CTT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						148.0	135.0	140.0					7																	136700977		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700977C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1365C>T	7.37:g.136700977C>T						CHRM2_uc003vtg.1_Silent_p.L455L|CHRM2_uc003vtj.1_Silent_p.L455L|CHRM2_uc003vtk.1_Silent_p.L455L|CHRM2_uc003vtl.1_Silent_p.L455L|CHRM2_uc003vtm.1_Silent_p.L455L|CHRM2_uc003vti.1_Silent_p.L455L|CHRM2_uc003vto.1_Silent_p.L455L|CHRM2_uc003vtn.1_Silent_p.L455L|uc003vtp.1_Intron	p.L455L	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1988	+			455			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.1365C>T	CCDS5843.1																																																																																				0.408	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			7	84	0	0	0	0.006214	0	7	84				
DENND2A	27147	broad.mit.edu	37	7	140255507	140255507	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:140255507C>T	ENST00000275884.6	-	11	2383	c.1966G>A	c.(1966-1968)Ggc>Agc	p.G656S	DENND2A_ENST00000537639.1_Missense_Mutation_p.G656S|DENND2A_ENST00000496613.1_Missense_Mutation_p.G656S|DENND2A_ENST00000492720.1_Missense_Mutation_p.G656S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	656					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCCCTTTGCCTCCAGGCTTT	0.488																																							uc010lnj.2		NA																	0				ovary(3)|breast(1)	4						c.(1966-1968)GGC>AGC		DENN/MADD domain containing 2A							88.0	87.0	87.0					7																	140255507		1901	4131	6032	SO:0001583	missense	27147							g.chr7:140255507C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1966G>A	7.37:g.140255507C>T	ENSP00000275884:p.Gly656Ser					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G656S|DENND2A_uc003vvw.2_Missense_Mutation_p.G656S|DENND2A_uc003vvx.2_Missense_Mutation_p.G656S	p.G656S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			10	2111	-	Melanoma(164;0.00956)		656					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1966G>A	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529924	0.96446	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.59224	3.27;3.27;3.27;0.28;2.24	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.97110	1.0;0.968	T	0.77619	-0.2520	10	0.72032	D	0.01	-31.5752	20.3052	0.98627	0.0:1.0:0.0:0.0	.	656;656	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	S	656;656;656;3;656	ENSP00000275884:G656S;ENSP00000442245:G656S;ENSP00000419654:G656S;ENSP00000420145:G3S;ENSP00000419464:G656S	ENSP00000275884:G656S	G	-	1	0	DENND2A	139901976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.143000	0.77348	2.814000	0.96858	0.650000	0.86243	GGC		0.488	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		11	48	0	0	0	0.001855	0	11	48				
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	A	rs121913358|rs397516890|rs121913355		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:140481402C>A	ENST00000288602.6	-	11	1466	c.1406G>T	c.(1405-1407)gGa>gTa	p.G469V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	42	Substitution - Missense(42)	p.G469A(19)|p.G469V(12)|p.G469S(6)|p.G469R(6)|p.G469E(5)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	GRCh37	CM060876	BRAF	M	rs121913355	c.(1405-1407)GGA>GTA		B-Raf	Sorafenib(DB00398)						174.0	149.0	158.0					7																	140481402		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481402C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1406G>T	7.37:g.140481402C>A	ENSP00000288602:p.Gly469Val						p.G469V	NM_004333	NP_004324	P15056	BRAF_HUMAN			11	1467	-	Melanoma(164;0.00956)		469		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).	ATP (By similarity).|Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1406G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.806444|4.806444	0.90623|0.90623	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.90261	.|-2.64	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96929	.|0.8997	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|D	.|0.97854	.|1.0276	.|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	X|V	77|469	.|ENSP00000288602:G469V	.|ENSP00000288602:G469V	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	120	1	0	1.7881e-09	0.008361	2.42608e-09	25	120				
TRPV5	56302	broad.mit.edu	37	7	142622697	142622697	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:142622697C>T	ENST00000265310.1	-	8	1397	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	TRPV5_ENST00000442623.1_Missense_Mutation_p.R350H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	350					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTTAAGGGGGCGGTAGACGCA	0.527																																							uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1048-1050)CGC>CAC		transient receptor potential cation channel,							131.0	114.0	119.0					7																	142622697		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142622697C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1049G>A	7.37:g.142622697C>T	ENSP00000265310:p.Arg350His					TRPV5_uc003wbz.2_Missense_Mutation_p.R350H	p.R350H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			8	1313	-	Melanoma(164;0.059)		350			Extracellular (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1049G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429826	0.83776	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	D;D;D	0.89485	-2.52;-2.52;-2.52	5.18	4.3	0.51218	.	0.103239	0.64402	D	0.000002	D	0.94424	0.8206	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.94820	0.7986	10	0.66056	D	0.02	-2.1169	13.2202	0.59883	0.0:0.9232:0.0:0.0768	.	350;350	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	H	350;295;350	ENSP00000265310:R350H;ENSP00000406361:R295H;ENSP00000406572:R350H	ENSP00000265310:R350H	R	-	2	0	TRPV5	142332819	1.000000	0.71417	0.996000	0.52242	0.714000	0.41099	6.914000	0.75764	1.319000	0.45190	0.655000	0.94253	CGC		0.527	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		3	112	0	0	0	0.004672	0	3	112				
KEL	3792	broad.mit.edu	37	7	142639549	142639549	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:142639549T>G	ENST00000355265.2	-	18	2483	c.2009A>C	c.(2008-2010)cAg>cCg	p.Q670P		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	670					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGATCTGCTGGGGGCTGAG	0.577																																							uc003wcb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2008-2010)CAG>CCG		Kell blood group, metallo-endopeptidase							50.0	36.0	41.0					7																	142639549		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639549T>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2009A>C	7.37:g.142639549T>G	ENSP00000347409:p.Gln670Pro						p.Q670P	NM_000420	NP_000411	P23276	KELL_HUMAN			18	2219	-	Melanoma(164;0.059)		670			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.2009A>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362218	0.41902	.	.	ENSG00000197993	ENST00000355265	D	0.82255	-1.59	4.34	-0.817	0.10836	Peptidase M13, neprilysin, C-terminal (1);	1.640180	0.03591	N	0.231935	T	0.74943	0.3783	L	0.45581	1.43	0.09310	N	1	P	0.45768	0.866	B	0.38880	0.284	T	0.63453	-0.6634	10	0.54805	T	0.06	-18.1047	3.1456	0.06471	0.1854:0.3318:0.0:0.4828	.	670	P23276	KELL_HUMAN	P	670	ENSP00000347409:Q670P	ENSP00000347409:Q670P	Q	-	2	0	KEL	142349671	0.023000	0.18921	0.457000	0.27056	0.991000	0.79684	0.220000	0.17660	-0.325000	0.08577	0.533000	0.62120	CAG		0.577	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		3	18	0	0	0	0.009096	0	3	18				
CNTNAP2	26047	broad.mit.edu	37	7	147815224	147815224	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:147815224G>A	ENST00000361727.3	+	16	2914	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	800	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTATTGGAATGCCGCCTCTTT	0.428										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2398-2400)GCC>ACC		cell recognition molecule Caspr2 precursor							135.0	135.0	135.0					7																	147815224		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147815224G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2398G>A	7.37:g.147815224G>A	ENSP00000354778:p.Ala800Thr	HNSCC(39;0.1)					p.A800T	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		16	2914	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	800			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2398G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756626	0.69648	.	.	ENSG00000174469	ENST00000361727	T	0.79247	-1.25	5.62	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	L	0.52206	1.635	0.80722	D	1	P	0.39044	0.656	B	0.42555	0.391	T	0.71649	-0.4529	10	0.25751	T	0.34	.	14.4036	0.67065	0.0:0.0:0.8511:0.1489	.	800	Q9UHC6	CNTP2_HUMAN	T	800	ENSP00000354778:A800T	ENSP00000354778:A800T	A	+	1	0	CNTNAP2	147446157	1.000000	0.71417	0.424000	0.26647	0.451000	0.32288	9.748000	0.98867	1.313000	0.45069	0.655000	0.94253	GCC		0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			5	128	0	0	0	0.001984	0	5	128				
ABCB8	11194	broad.mit.edu	37	7	150732998	150732998	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:150732998G>T	ENST00000297504.6	+	8	1074	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	ABCB8_ENST00000358849.4_Missense_Mutation_p.E319D|ABCB8_ENST00000477719.1_Missense_Mutation_p.E319D|ABCB8_ENST00000542328.1_Missense_Mutation_p.E231D|ABCB8_ENST00000356058.4_Missense_Mutation_p.E356D|ABCB8_ENST00000498578.1_Missense_Mutation_p.E319D|ABCB8_ENST00000477092.1_Missense_Mutation_p.E319D			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	336	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TAGCAGACGAGGCCCTGGGCA	0.612																																							uc003wil.3		NA																	0				breast(2)|upper_aerodigestive_tract(1)	3						c.(1006-1008)GAG>GAT		ATP-binding cassette, sub-family B, member 8							79.0	67.0	71.0					7																	150732998		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150732998G>T	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1008G>T	7.37:g.150732998G>T	ENSP00000297504:p.Glu336Asp					ABCB8_uc003wii.2_Missense_Mutation_p.E356D|ABCB8_uc003wij.3_Missense_Mutation_p.E319D|ABCB8_uc010lpw.1_Missense_Mutation_p.G185C|ABCB8_uc010lpx.2_Missense_Mutation_p.E319D|ABCB8_uc011kvd.1_Missense_Mutation_p.E231D|ABCB8_uc003wim.3_Missense_Mutation_p.E114D|ABCB8_uc003wik.3_Missense_Mutation_p.E319D	p.E336D	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	1101	+			336			ABC transmembrane type-1.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1008G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367376|3.367376	0.61513|0.61513	.|.	.|.	ENSG00000197150|ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092|ENST00000491920	D;D;D;D;D;D;D|.	0.95342|.	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68|.	5.34|5.34	5.34|5.34	0.76211|0.76211	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.110120|.	0.64402|.	D|.	0.000011|.	T|T	0.80571|0.80571	0.4648|0.4648	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.84354|0.84354	0.0534|0.0534	10|5	0.72032|.	D|.	0.01|.	-3.2906|-3.2906	10.0475|10.0475	0.42195|0.42195	0.0917:0.0:0.9083:0.0|0.0917:0.0:0.9083:0.0	.|.	231;319;336;319;319;356|.	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8|.	.;.;ABCB8_HUMAN;.;.;.|.	D|C	319;302;336;231;319;356;319;319|52	ENSP00000351717:E319D;ENSP00000297504:E336D;ENSP00000438776:E231D;ENSP00000418271:E319D;ENSP00000348353:E356D;ENSP00000419891:E319D;ENSP00000419558:E319D|.	ENSP00000297504:E336D|.	E|G	+|+	3|1	2|0	ABCB8|ABCB8	150363931|150363931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.335000|0.335000	0.28730|0.28730	3.821000|3.821000	0.55700|0.55700	2.504000|2.504000	0.84457|0.84457	0.561000|0.561000	0.74099|0.74099	GAG|GGC		0.612	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		6	55	1	0	2.7689e-08	0.001984	3.60914e-08	6	55				
DPP6	1804	broad.mit.edu	37	7	154598741	154598741	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:154598741T>C	ENST00000377770.3	+	16	1726	c.1585T>C	c.(1585-1587)Tcc>Ccc	p.S529P	DPP6_ENST00000404039.1_Missense_Mutation_p.S465P|DPP6_ENST00000427557.1_Missense_Mutation_p.S422P|DPP6_ENST00000332007.3_Missense_Mutation_p.S467P			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	529					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCAGTGCCTCTCCTGTGACCT	0.592																																					NSCLC(125;1384 1783 2490 7422 34254)	NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(1585-1587)TCC>CCC		dipeptidyl-peptidase 6 isoform 1							133.0	138.0	136.0					7																	154598741		2138	4248	6386	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154598741T>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1585T>C	7.37:g.154598741T>C	ENSP00000367001:p.Ser529Pro					DPP6_uc003wli.2_Missense_Mutation_p.S465P|DPP6_uc003wlm.2_Missense_Mutation_p.S467P|DPP6_uc011kvq.1_Missense_Mutation_p.S422P	p.S529P	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		16	1714	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	529			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.1585T>C		.	.	.	.	.	.	.	.	.	.	T	23.0	4.356801	0.82243	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	4.8	4.8	0.61643	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.052715	0.85682	D	0.000000	T	0.65780	0.2724	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.79108	0.991;0.985;0.992;0.988	T	0.74131	-0.3764	10	0.87932	D	0	-26.573	13.3683	0.60698	0.0:0.0:0.0:1.0	.	422;467;529;465	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	P	465;529;467;422	ENSP00000385578:S465P;ENSP00000367001:S529P;ENSP00000328226:S467P;ENSP00000397303:S422P	ENSP00000328226:S467P	S	+	1	0	DPP6	154229674	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.023000	0.57211	1.769000	0.52152	0.533000	0.62120	TCC		0.592	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		22	163	0	0	0	0.007291	0	22	163				
DPP6	1804	broad.mit.edu	37	7	154679441	154679441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:154679441C>A	ENST00000377770.3	+	23	2442	c.2301C>A	c.(2299-2301)taC>taA	p.Y767*	DPP6_ENST00000404039.1_Nonsense_Mutation_p.Y703*|DPP6_ENST00000427557.1_Nonsense_Mutation_p.Y660*|DPP6_ENST00000332007.3_Nonsense_Mutation_p.Y705*			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	767					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACAGAGCATACGAGGTGTGTA	0.582																																					NSCLC(125;1384 1783 2490 7422 34254)	NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(2299-2301)TAC>TAA		dipeptidyl-peptidase 6 isoform 1							203.0	214.0	210.0					7																	154679441		2117	4234	6351	SO:0001587	stop_gained	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154679441C>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2301C>A	7.37:g.154679441C>A	ENSP00000367001:p.Tyr767*					DPP6_uc003wli.2_Nonsense_Mutation_p.Y703*|DPP6_uc003wlm.2_Nonsense_Mutation_p.Y705*|DPP6_uc011kvq.1_Nonsense_Mutation_p.Y660*	p.Y767*	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		23	2430	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	767			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000377770.3	37	c.2301C>A		.	.	.	.	.	.	.	.	.	.	C	18.51	3.638614	0.67130	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	.	.	.	4.65	-5.48	0.02592	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.604	14.0347	0.64638	0.0:0.496:0.0:0.504	.	.	.	.	X	703;767;705;660	.	ENSP00000328226:Y705X	Y	+	3	2	DPP6	154310374	0.004000	0.15560	0.115000	0.21578	0.021000	0.10359	-1.877000	0.01631	-1.056000	0.03205	-0.471000	0.05019	TAC		0.582	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		37	250	1	0	2.58029e-29	0.009718	4.62999e-29	37	250				
HTR5A	3361	broad.mit.edu	37	7	154875864	154875864	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:154875864G>T	ENST00000287907.2	+	2	1317		c.e2-1		HTR5A_ENST00000486819.1_Splice_Site	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled						cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTCTTTTACAGGTGAAGGACT	0.592																																							uc003wlu.1		NA																	0				ovary(2)|large_intestine(1)	3						c.e2-1		5-hydroxytryptamine receptor 5A							35.0	32.0	33.0					7																	154875864		2203	4300	6503	SO:0001630	splice_region_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875864G>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.742-1G>T	7.37:g.154875864G>T							p.V248_splice	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	806	+	all_neural(206;0.119)	all_hematologic(28;0.0592)						Q2M2D2	Splice_Site	SNP	ENST00000287907.2	37	c.742_splice	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993690	0.35131	.	.	ENSG00000157219	ENST00000287907	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0931	0.89480	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTR5A	154506797	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	9.334000	0.96470	2.254000	0.74563	0.609000	0.83330	.		0.592	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	Intron	8	19	1	0	0.000673444	0.008291	0.000743389	8	19				
NOM1	64434	broad.mit.edu	37	7	156752856	156752857	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr7:156752856_156752857GG>TT	ENST00000275820.3	+	4	1635_1636	c.1620_1621GG>TT	c.(1618-1623)caGGac>caTTac	p.540_541QD>HY		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	540	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCGAGTTTCAGGACCAGACCAG	0.47																																							uc003wmy.2		NA																	0					0						c.(1618-1623)CAGGAC>CATTAC		nucleolar protein with MIF4G domain 1																																				SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156752856_156752857GG>TT	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	Exception_encountered	7.37:g.156752856_156752857delinsTT	ENSP00000275820:p.Q540_D541delinsHY					NOM1_uc010lqp.1_5'Flank	p.540_541QD>HY	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	4	1635_1636	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	540_541			MIF4G.		Q96I08	Missense_Mutation	DNP	ENST00000275820.3	37	c.1620_1621GG>TT	CCDS34787.1																																																																																				0.470	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		20	63	0	0	0	0.004672	0	20	63				
MYOM2	9172	broad.mit.edu	37	8	2000343	2000343	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:2000343A>T	ENST00000262113.4	+	3	316	c.175A>T	c.(175-177)Agc>Tgc	p.S59C	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	59					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGAGCCTCCAGCCAGACGTC	0.572																																							uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(175-177)AGC>TGC		myomesin 2							150.0	139.0	143.0					8																	2000343		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2000343A>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.175A>T	8.37:g.2000343A>T	ENSP00000262113:p.Ser59Cys					MYOM2_uc011kwi.1_Intron	p.S59C	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	3	313	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	59					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.175A>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455360	0.43634	.	.	ENSG00000036448	ENST00000262113	T	0.53206	0.63	4.71	2.31	0.28768	.	0.419338	0.25154	N	0.032740	T	0.35998	0.0951	L	0.47716	1.5	0.09310	N	0.999997	P	0.46327	0.876	B	0.40101	0.319	T	0.27400	-1.0075	10	0.66056	D	0.02	.	5.8048	0.18434	0.7739:0.0:0.2261:0.0	.	59	P54296	MYOM2_HUMAN	C	59	ENSP00000262113:S59C	ENSP00000262113:S59C	S	+	1	0	MYOM2	1987750	.	.	0.012000	0.15200	0.233000	0.25261	.	.	0.314000	0.23086	0.533000	0.62120	AGC		0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		35	101	0	0	0	0.003755	0	35	101				
RP1L1	94137	broad.mit.edu	37	8	10466309	10466309	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:10466309C>A	ENST00000382483.3	-	4	5522	c.5299G>T	c.(5299-5301)Gca>Tca	p.A1767S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1847					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGAGCCATTGCATCTCCCTCT	0.587																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5299-5301)GCA>TCA		retinitis pigmentosa 1-like 1							173.0	181.0	178.0					8																	10466309		2040	4194	6234	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466309C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5299G>T	8.37:g.10466309C>A	ENSP00000371923:p.Ala1767Ser						p.A1767S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5528	-			1767					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5299G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.081	0.383255	0.11524	.	.	ENSG00000183638	ENST00000382483	T	0.04275	3.66	4.37	-3.17	0.05202	.	2.250130	0.03055	U	0.155105	T	0.04003	0.0112	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44190	-0.9344	10	0.16420	T	0.52	0.5597	8.6043	0.33764	0.0:0.5114:0.1009:0.3877	.	1767	A6NKC6	.	S	1767	ENSP00000371923:A1767S	ENSP00000371923:A1767S	A	-	1	0	RP1L1	10503719	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.209000	0.09358	-0.578000	0.05959	-1.842000	0.00583	GCA		0.587	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			33	200	1	0	6.70999e-13	0.004289	1.01692e-12	33	200				
RP1L1	94137	broad.mit.edu	37	8	10466530	10466530	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:10466530A>G	ENST00000382483.3	-	4	5301	c.5078T>C	c.(5077-5079)cTg>cCg	p.L1693P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1773					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCCTCTGCAGAATCTGCTG	0.607																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5077-5079)CTG>CCG		retinitis pigmentosa 1-like 1							74.0	82.0	79.0					8																	10466530		2010	4179	6189	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466530A>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5078T>C	8.37:g.10466530A>G	ENSP00000371923:p.Leu1693Pro						p.L1693P	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5307	-			1693					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5078T>C	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172556	0.38315	.	.	ENSG00000183638	ENST00000382483	T	0.26223	1.75	4.66	4.66	0.58398	.	0.000000	0.27415	U	0.019470	T	0.40196	0.1107	L	0.36672	1.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.24333	-1.0163	10	0.62326	D	0.03	-14.0768	13.0483	0.58939	1.0:0.0:0.0:0.0	.	1693	A6NKC6	.	P	1693	ENSP00000371923:L1693P	ENSP00000371923:L1693P	L	-	2	0	RP1L1	10503940	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	6.896000	0.75665	1.955000	0.56771	0.379000	0.24179	CTG		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			33	117	0	0	0	0.003271	0	33	117				
TEX15	56154	broad.mit.edu	37	8	30703740	30703740	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:30703740G>A	ENST00000256246.2	-	1	2868	c.2794C>T	c.(2794-2796)Cat>Tat	p.H932Y	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	932					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATCTTTATGTGGTATGTTC	0.343																																							uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(2794-2796)CAT>TAT		testis expressed 15							128.0	134.0	132.0					8																	30703740		2203	4298	6501	SO:0001583	missense	56154							g.chr8:30703740G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2794C>T	8.37:g.30703740G>A	ENSP00000256246:p.His932Tyr						p.H932Y	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	2794	-			932						Missense_Mutation	SNP	ENST00000256246.2	37	c.2794C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512058	0.27036	.	.	ENSG00000133863	ENST00000256246	T	0.11063	2.81	5.33	-10.7	0.00240	.	0.527772	0.17029	N	0.189811	T	0.06735	0.0172	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.22452	-1.0216	10	0.87932	D	0	.	5.9375	0.19173	0.0664:0.412:0.2534:0.2682	.	932	Q9BXT5	TEX15_HUMAN	Y	932	ENSP00000256246:H932Y	ENSP00000256246:H932Y	H	-	1	0	TEX15	30823282	0.150000	0.22732	0.000000	0.03702	0.017000	0.09413	-0.119000	0.10676	-1.684000	0.01443	-0.444000	0.05651	CAT		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			22	94	0	0	0	0.004656	0	22	94				
PXDNL	137902	broad.mit.edu	37	8	52387622	52387622	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:52387622C>A	ENST00000356297.4	-	7	704	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	PXDNL_ENST00000543296.1_Missense_Mutation_p.G202C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	202	LRRCT.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGGTGTGGCCGTGTTGGGCA	0.537																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(604-606)GGC>TGC		peroxidasin homolog-like precursor							49.0	50.0	50.0					8																	52387622		1917	4137	6054	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52387622C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.604G>T	8.37:g.52387622C>A	ENSP00000348645:p.Gly202Cys						p.G202C	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			7	705	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	202			LRRCT.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.604G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557900	0.65425	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.52754	0.65;0.65	4.75	3.87	0.44632	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.66096	0.2755	M	0.78637	2.42	0.37690	D	0.92381	D	0.89917	1.0	D	0.72075	0.976	T	0.72414	-0.4301	9	0.72032	D	0.01	.	10.5207	0.44918	0.0:0.9038:0.0:0.0962	.	202	A1KZ92	PXDNL_HUMAN	C	202	ENSP00000348645:G202C;ENSP00000444865:G202C	ENSP00000348645:G202C	G	-	1	0	PXDNL	52550175	0.980000	0.34600	0.004000	0.12327	0.001000	0.01503	4.983000	0.63832	0.975000	0.38392	0.650000	0.86243	GGC		0.537	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		9	24	1	0	0.000442599	0.006214	0.000490528	9	24				
MOS	4342	broad.mit.edu	37	8	57025614	57025614	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:57025614C>A	ENST00000311923.1	-	1	927	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGCGCTGCCCGGGGAGCGAG	0.687																																					Esophageal Squamous(124;373 2870 4778)	Esophageal Squamous(124;373 2870 4778)	uc011leb.1		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(928-930)GGG>TGG		v-mos Moloney murine sarcoma viral oncogene							23.0	25.0	25.0					8																	57025614		2202	4299	6501	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025614C>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.928G>T	8.37:g.57025614C>A	ENSP00000310722:p.Gly310Trp						p.G310W	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	928	-			310			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.928G>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168089	0.78339	.	.	ENSG00000172680	ENST00000311923	D	0.93366	-3.21	5.8	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058139	0.64402	D	0.000002	D	0.95695	0.8600	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96093	0.9063	10	0.87932	D	0	.	14.8952	0.70639	0.0:0.9316:0.0:0.0684	.	310	P00540	MOS_HUMAN	W	310	ENSP00000310722:G310W	ENSP00000310722:G310W	G	-	1	0	MOS	57188168	0.984000	0.35163	0.056000	0.19401	0.017000	0.09413	3.247000	0.51422	1.477000	0.48234	0.561000	0.74099	GGG		0.687	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		4	27	1	0	1.23904e-05	0.000602	1.45697e-05	4	27				
CSPP1	79848	broad.mit.edu	37	8	67986491	67986491	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:67986491G>C	ENST00000262210.5	+	2	143	c.112G>C	c.(112-114)Gct>Cct	p.A38P	COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	38					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTGCAAAATGGCTGATAATTT	0.338																																							uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(112-114)GCT>CCT		centrosome spindle pole associated protein 1							78.0	82.0	81.0					8																	67986491		1812	4065	5877	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:67986491G>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.112G>C	8.37:g.67986491G>C	ENSP00000262210:p.Ala38Pro					CSPP1_uc003xxg.1_Missense_Mutation_p.A38P|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A38P	p.A38P	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		2	143	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	38			Potential.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.112G>C	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982929	0.53827	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.63580	-0.05;1.26	5.4	1.61	0.23674	.	1.019970	0.07972	U	0.984135	T	0.67988	0.2952	L	0.50333	1.59	0.80722	D	1	P;P;P	0.52061	0.95;0.874;0.874	P;P;P	0.54889	0.763;0.447;0.571	T	0.62238	-0.6896	10	0.66056	D	0.02	-0.0811	9.9141	0.41423	0.2814:0.0:0.7186:0.0	.	38;38;38	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	P	2;38;38	ENSP00000429546:A2P;ENSP00000262210:A38P	ENSP00000262210:A38P	A	+	1	0	CSPP1	68149045	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.771000	0.26633	0.364000	0.24374	-0.251000	0.11542	GCT		0.338	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		6	60	0	0	0	0.001984	0	6	60				
SLCO5A1	81796	broad.mit.edu	37	8	70674028	70674029	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:70674028_70674029GG>TT	ENST00000260126.4	-	3	1695_1696	c.989_990CC>AA	c.(988-990)cCC>cAA	p.P330Q	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P330Q|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P330Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	330						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAGGATTTCTGGGATCAACATA	0.386																																							uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(988-990)CCC>CAA		solute carrier organic anion transporter family,																																				SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70674028_70674029GG>TT	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.989_990delinsTT	8.37:g.70674028_70674029delinsTT	ENSP00000260126:p.Pro330Gln					SLCO5A1_uc010lzb.2_Missense_Mutation_p.P330Q|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.P330Q|SLCO5A1_uc010lzc.2_Missense_Mutation_p.P330Q	p.P330Q	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		3	1696_1697	-	Breast(64;0.0654)		330			Extracellular (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	DNP	ENST00000260126.4	37	c.989_990CC>AA	CCDS6205.1																																																																																				0.386	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		11	29	0	0	0	0.004672	0	11	29				
PRDM14	63978	broad.mit.edu	37	8	70970913	70970913	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:70970913G>T	ENST00000276594.2	-	6	1549	c.1348C>A	c.(1348-1350)Cac>Aac	p.H450N		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	450					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGAAGAATGTGGATCCGAAGC	0.517																																					NSCLC(129;99 1813 5906 40656 46114)	NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	0				ovary(3)	3						c.(1348-1350)CAC>AAC		PR domain containing 14							121.0	108.0	112.0					8																	70970913		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70970913G>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1348C>A	8.37:g.70970913G>T	ENSP00000276594:p.His450Asn						p.H450N	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		6	1550	-	Breast(64;0.193)		450			C2H2-type 2.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1348C>A	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706485	0.89018	.	.	ENSG00000147596	ENST00000276594	T	0.52754	0.65	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.76499	0.3996	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80795	-0.1223	10	0.87932	D	0	-30.1576	19.9036	0.96999	0.0:0.0:1.0:0.0	.	450	Q9GZV8	PRD14_HUMAN	N	450	ENSP00000276594:H450N	ENSP00000276594:H450N	H	-	1	0	PRDM14	71133467	1.000000	0.71417	0.994000	0.49952	0.752000	0.42762	9.288000	0.96055	2.706000	0.92434	0.655000	0.94253	CAC		0.517	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			12	54	1	0	1.49906e-05	0.00245	1.75774e-05	12	54				
PRDM14	63978	broad.mit.edu	37	8	70978595	70978595	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:70978595C>A	ENST00000276594.2	-	5	1259	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	353	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GATCTCTTTGCAGCTCTCATA	0.502																																					NSCLC(129;99 1813 5906 40656 46114)	NSCLC(129;99 1813 5906 40656 46114)	uc003xym.2		NA																	0				ovary(3)	3						c.(1057-1059)TGC>TTC		PR domain containing 14							113.0	107.0	109.0					8																	70978595		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978595C>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1058G>T	8.37:g.70978595C>A	ENSP00000276594:p.Cys353Phe						p.C353F	NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1260	-	Breast(64;0.193)		353			SET.		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.1058G>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029008	0.75504	.	.	ENSG00000147596	ENST00000276594	D	0.81908	-1.55	5.75	4.87	0.63330	SET domain (3);	0.050882	0.85682	D	0.000000	D	0.88930	0.6571	M	0.69358	2.11	0.80722	D	1	D	0.60160	0.987	D	0.63597	0.916	D	0.89383	0.3683	10	0.54805	T	0.06	-17.6671	14.6458	0.68759	0.0:0.9301:0.0:0.0699	.	353	Q9GZV8	PRD14_HUMAN	F	353	ENSP00000276594:C353F	ENSP00000276594:C353F	C	-	2	0	PRDM14	71141149	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.774000	0.68906	1.414000	0.47017	0.655000	0.94253	TGC		0.502	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			13	41	1	0	7.93312e-07	0.00245	9.80113e-07	13	41				
XKR9	389668	broad.mit.edu	37	8	71619381	71619381	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:71619381C>G	ENST00000408926.3	+	4	1020	c.486C>G	c.(484-486)ttC>ttG	p.F162L	XKR9_ENST00000520030.1_Missense_Mutation_p.F162L|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	162						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AAGCGAATTTCAGTCAGTGTA	0.383																																							uc003xyq.2		NA																	0				ovary(1)|skin(1)	2						c.(484-486)TTC>TTG		XK, Kell blood group complex subunit-related							127.0	117.0	120.0					8																	71619381		2203	4300	6503	SO:0001583	missense	389668					integral to membrane		g.chr8:71619381C>G	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.486C>G	8.37:g.71619381C>G	ENSP00000386141:p.Phe162Leu					XKR9_uc010lze.2_Missense_Mutation_p.F162L|XKR9_uc010lzd.2_Missense_Mutation_p.F30L	p.F162L	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	1020	+	Breast(64;0.0716)		162					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.486C>G	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	C	3.655	-0.070630	0.07228	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.61158	0.13;0.13	5.3	0.14	0.14804	.	0.864936	0.10332	N	0.687411	T	0.28665	0.0710	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.17684	-1.0361	10	0.11485	T	0.65	0.5966	2.3502	0.04281	0.2671:0.4608:0.1294:0.1427	.	162	Q5GH70	XKR9_HUMAN	L	162	ENSP00000386141:F162L;ENSP00000431088:F162L	ENSP00000386141:F162L	F	+	3	2	XKR9	71781935	0.969000	0.33509	0.042000	0.18584	0.473000	0.32948	2.083000	0.41615	-0.283000	0.09115	-0.309000	0.09137	TTC		0.383	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		3	89	0	0	0	0.004672	0	3	89				
ZFHX4	79776	broad.mit.edu	37	8	77767937	77767937	+	Missense_Mutation	SNP	C	C	A	rs371706545		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:77767937C>A	ENST00000521891.2	+	10	9228	c.8780C>A	c.(8779-8781)cCg>cAg	p.P2927Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2901Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2882Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2882Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2882					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGATCGGCCGGGTCACAAG	0.498										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8644-8646)CCG>CAG		zinc finger homeodomain 4							55.0	54.0	54.0					8																	77767937		1915	4119	6034	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767937C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8780C>A	8.37:g.77767937C>A	ENSP00000430497:p.Pro2927Gln	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P2927Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2882Q	p.P2882Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9032	+			2882					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8645C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	8.713	0.912540	0.17907	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52057	0.68;0.73;0.7;0.69	5.19	5.19	0.71726	Homeobox (1);Homeodomain-like (1);	0.000000	0.44285	U	0.000480	T	0.49813	0.1579	N	0.24115	0.695	0.50632	D	0.999887	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70935	0.935;0.971;0.971	T	0.42103	-0.9471	10	0.35671	T	0.21	.	9.5166	0.39109	0.0:0.8457:0.0:0.1543	.	2882;2882;2927	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	2927;2911;2882;2882;2901	ENSP00000430497:P2927Q;ENSP00000399605:P2882Q;ENSP00000050961:P2882Q;ENSP00000430848:P2901Q	ENSP00000050961:P2882Q	P	+	2	0	ZFHX4	77930492	1.000000	0.71417	0.510000	0.27712	0.108000	0.19459	4.827000	0.62723	2.696000	0.92011	0.655000	0.94253	CCG		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	23	1	0	0.00198382	0.001984	0.00215825	6	23				
NBN	4683	broad.mit.edu	37	8	90958458	90958458	+	Silent	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:90958458T>C	ENST00000265433.3	-	13	2134	c.1980A>G	c.(1978-1980)agA>agG	p.R660R	NBN_ENST00000409330.1_Silent_p.R578R	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	660					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCACCAGTGATCTAAATTCAG	0.323								Homologous recombination																															uc003yej.1		NA																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(1978-1980)AGA>AGG	Direct_reversal_of_damage|Homologous_recombination	nibrin							121.0	124.0	123.0					8																	90958458		2203	4298	6501	SO:0001819	synonymous_variant	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90958458T>C	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1980A>G	8.37:g.90958458T>C						NBN_uc003yei.1_Silent_p.R578R|NBN_uc011lgb.1_Silent_p.R660R	p.R660R	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		13	2090	-			660					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.1980A>G	CCDS6249.1																																																																																				0.323	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		14	59	0	0	0	0.004007	0	14	59				
RBM12B	389677	broad.mit.edu	37	8	94746577	94746577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:94746577G>A	ENST00000399300.2	-	3	2275	c.2062C>T	c.(2062-2064)Cag>Tag	p.Q688*	RBM12B_ENST00000517700.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	688							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CATTCTCCCTGAAGAGGCCGC	0.622																																							uc003yfz.2		NA																	0					0						c.(2062-2064)CAG>TAG		RNA binding motif protein 12B							92.0	97.0	95.0					8																	94746577		1838	4063	5901	SO:0001587	stop_gained	389677						nucleotide binding|RNA binding	g.chr8:94746577G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2062C>T	8.37:g.94746577G>A	ENSP00000382239:p.Gln688*						p.Q688*	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2255	-	Breast(36;4.14e-07)		688					A8MYB5	Nonsense_Mutation	SNP	ENST00000399300.2	37	c.2062C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809631	0.90707	.	.	ENSG00000183808	ENST00000399300	.	.	.	3.85	-4.95	0.03048	.	.	.	.	.	.	.	.	.	.	.	0.21841	N	0.999516	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.9723	0.47446	0.0:0.6055:0.1431:0.2514	.	.	.	.	X	688	.	ENSP00000382239:Q688X	Q	-	1	0	RBM12B	94815753	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.926000	0.01562	-1.047000	0.03242	-0.310000	0.09108	CAG		0.622	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		6	209	0	0	0	0.001168	0	6	209				
SYBU	55638	broad.mit.edu	37	8	110631080	110631080	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:110631080C>A	ENST00000422135.1	-	4	933	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	SYBU_ENST00000532779.1_Missense_Mutation_p.V72L|SYBU_ENST00000528331.1_Missense_Mutation_p.V21L|SYBU_ENST00000399066.3_Missense_Mutation_p.V137L|SYBU_ENST00000424158.2_Missense_Mutation_p.V145L|SYBU_ENST00000408908.2_Missense_Mutation_p.V140L|SYBU_ENST00000408889.3_Missense_Mutation_p.V21L|SYBU_ENST00000446070.2_Missense_Mutation_p.V139L|SYBU_ENST00000276646.9_Missense_Mutation_p.V140L|SYBU_ENST00000440310.1_Missense_Mutation_p.V140L|SYBU_ENST00000419099.1_Missense_Mutation_p.V139L|SYBU_ENST00000533171.1_Missense_Mutation_p.V140L|SYBU_ENST00000533895.1_Missense_Mutation_p.V139L|SYBU_ENST00000528647.1_Missense_Mutation_p.V139L|SYBU_ENST00000433638.1_Missense_Mutation_p.V140L|SYBU_ENST00000533065.1_Missense_Mutation_p.V21L	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	140	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCTGGTTTCACAAGGCCTGAC	0.418																																							uc003ynj.3		NA																	0				ovary(1)	1						c.(418-420)GTG>TTG		Golgi-localized syntaphilin-related protein							161.0	162.0	162.0					8																	110631080		1947	4148	6095	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110631080C>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.418G>T	8.37:g.110631080C>A	ENSP00000407118:p.Val140Leu					SYBU_uc003yni.3_Missense_Mutation_p.V137L|SYBU_uc003ynk.3_Missense_Mutation_p.V21L|SYBU_uc010mco.2_Missense_Mutation_p.V139L|SYBU_uc003ynl.3_Missense_Mutation_p.V139L|SYBU_uc010mcp.2_Missense_Mutation_p.V140L|SYBU_uc010mcq.2_Missense_Mutation_p.V140L|SYBU_uc003yno.3_Missense_Mutation_p.V21L|SYBU_uc010mcr.2_Missense_Mutation_p.V140L|SYBU_uc003ynm.3_Missense_Mutation_p.V139L|SYBU_uc003ynn.3_Missense_Mutation_p.V139L|SYBU_uc010mcs.2_Missense_Mutation_p.V21L|SYBU_uc010mct.2_Missense_Mutation_p.V140L|SYBU_uc010mcu.2_Missense_Mutation_p.V139L|SYBU_uc003ynp.3_Missense_Mutation_p.V72L|SYBU_uc010mcv.2_Missense_Mutation_p.V140L	p.V140L	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			3	581	-			140			Sufficient for interaction with KIF5B.|Ser-rich.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.418G>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343140	0.24339	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000533171;ENST00000528045;ENST00000529190;ENST00000528569;ENST00000532189;ENST00000533821;ENST00000530841;ENST00000531230;ENST00000534501	.	.	.	5.81	0.29	0.15728	.	0.565315	0.20088	N	0.099506	T	0.26702	0.0653	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.25563	0.129;0.003;0.005;0.005	B;B;B;B	0.31290	0.127;0.004;0.007;0.011	T	0.28650	-1.0037	9	0.08599	T	0.76	-1.6678	6.7691	0.23585	0.0:0.4941:0.1201:0.3858	.	72;139;140;137	Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;SYBU_HUMAN;.	L	139;145;72;137;139;21;140;139;140;139;140;140;140;21;21;140;21;139;21;21;139;21;21;140	.	ENSP00000276646:V140L	V	-	1	0	SYBU	110700256	0.766000	0.28496	0.652000	0.29579	0.954000	0.61252	-0.049000	0.11924	0.088000	0.17205	0.655000	0.94253	GTG		0.418	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		33	147	1	0	2.59497e-14	0.007835	4.02099e-14	33	147				
CSMD3	114788	broad.mit.edu	37	8	113358410	113358410	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:113358410C>G	ENST00000297405.5	-	41	6602	c.6358G>C	c.(6358-6360)Ggt>Cgt	p.G2120R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2016R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2080R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2050R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2120	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						AGGATCACACCACTGAAGTCT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				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.(6358-6360)GGT>CGT		CUB and Sushi multiple domains 3 isoform 1							107.0	108.0	107.0					8																	113358410		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358410C>G	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.6358G>C	8.37:g.113358410C>G	ENSP00000297405:p.Gly2120Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G1322R|CSMD3_uc003ynt.2_Missense_Mutation_p.G2080R|CSMD3_uc011lhx.1_Missense_Mutation_p.G2016R	p.G2120R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			41	6517	-			2120			Extracellular (Potential).|CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6358G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982752	0.93044	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.44	5.44	0.79542	CUB (5);	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.82534	-0.0409	10	0.59425	D	0.04	.	19.4586	0.94906	0.0:1.0:0.0:0.0	.	2016;2120;2080	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2080;2120;1390;2016;2050	ENSP00000345799:G2080R;ENSP00000297405:G2120R;ENSP00000341558:G1390R;ENSP00000412263:G2016R;ENSP00000343124:G2050R	ENSP00000297405:G2120R	G	-	1	0	CSMD3	113427586	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.617000	0.83032	2.834000	0.97654	0.650000	0.86243	GGT		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	61	0	0	0	0.004482	0	9	61				
CSMD3	114788	broad.mit.edu	37	8	113585852	113585852	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:113585852A>G	ENST00000297405.5	-	24	4164	c.3920T>C	c.(3919-3921)cTa>cCa	p.L1307P	CSMD3_ENST00000455883.2_Missense_Mutation_p.L1203P|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1267P|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1307P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1307	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						AAAAGCACCTAGTAGATGAGT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				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.(3919-3921)CTA>CCA		CUB and Sushi multiple domains 3 isoform 1							111.0	110.0	111.0					8																	113585852		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113585852A>G	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.3920T>C	8.37:g.113585852A>G	ENSP00000297405:p.Leu1307Pro	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L579P|CSMD3_uc003ynt.2_Missense_Mutation_p.L1267P|CSMD3_uc011lhx.1_Missense_Mutation_p.L1203P	p.L1307P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			24	4079	-			1307			Extracellular (Potential).|CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3920T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089269	0.76756	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.85	4.85	0.62838	CUB (5);	0.000000	0.64402	D	0.000019	T	0.56171	0.1967	H	0.95004	3.61	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.994	T	0.65446	-0.6166	10	0.30078	T	0.28	.	14.5952	0.68400	1.0:0.0:0.0:0.0	.	1203;1307;1267	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	1267;1307;647;1203;1307	ENSP00000345799:L1267P;ENSP00000297405:L1307P;ENSP00000341558:L647P;ENSP00000412263:L1203P;ENSP00000343124:L1307P	ENSP00000297405:L1307P	L	-	2	0	CSMD3	113655028	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	8.908000	0.92640	2.019000	0.59389	0.482000	0.46254	CTA		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	68	0	0	0	0.00499	0	15	68				
CSMD3	114788	broad.mit.edu	37	8	114186078	114186078	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:114186078G>A	ENST00000297405.5	-	4	826	c.582C>T	c.(580-582)ttC>ttT	p.F194F	CSMD3_ENST00000455883.2_Silent_p.F194F|CSMD3_ENST00000343508.3_Silent_p.F154F|CSMD3_ENST00000519485.1_5'Flank|CSMD3_ENST00000352409.3_Silent_p.F194F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	194	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F194F(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						CCCCGACGTCGAATCTTGTGC	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	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.(580-582)TTC>TTT		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114186078G>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.582C>T	8.37:g.114186078G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Silent_p.F154F|CSMD3_uc011lhx.1_Silent_p.F194F|CSMD3_uc010mcx.1_Silent_p.F194F	p.F194F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			4	741	-			194			Extracellular (Potential).|Sushi 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.582C>T	CCDS6315.1																																																																																				0.453	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	77	0	0	0	0.000602	0	5	77				
WDYHV1	55093	broad.mit.edu	37	8	124448714	124448714	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:124448714C>T	ENST00000287387.2	+	4	381	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523984.1_Missense_Mutation_p.H26Y|WDYHV1_ENST00000523356.1_Missense_Mutation_p.H86Y|WDYHV1_ENST00000518125.1_Intron	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	86					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TGTTTTGCTTCATGTTTCAAG	0.368																																							uc003yqn.1		NA																	0				ovary(1)|skin(1)	2						c.(256-258)CAT>TAT		WDYHV motif containing 1							193.0	161.0	172.0					8																	124448714		2203	4300	6503	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124448714C>T	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.256C>T	8.37:g.124448714C>T	ENSP00000287387:p.His86Tyr					WDYHV1_uc011lij.1_Missense_Mutation_p.H26Y|WDYHV1_uc003yqo.1_Intron	p.H86Y	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			4	381	+			86					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.256C>T	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981198	0.34942	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000523356	T;T;T	0.17528	2.27;2.27;2.27	5.78	5.78	0.91487	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.215454	0.49305	D	0.000159	T	0.12860	0.0312	N	0.21282	0.65	0.80722	D	1	P	0.37864	0.61	B	0.35353	0.201	T	0.12785	-1.0534	10	0.13108	T	0.6	-27.2073	18.7706	0.91890	0.0:1.0:0.0:0.0	.	86	Q96HA8	NTAQ1_HUMAN	Y	86;26;86	ENSP00000287387:H86Y;ENSP00000430427:H26Y;ENSP00000428615:H86Y	ENSP00000287387:H86Y	H	+	1	0	WDYHV1	124517895	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.991000	0.70602	2.724000	0.93272	0.655000	0.94253	CAT		0.368	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		5	34	0	0	0	0.000602	0	5	34				
ADCY8	114	broad.mit.edu	37	8	131916178	131916178	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:131916178G>C	ENST00000286355.5	-	7	3843	c.1751C>G	c.(1750-1752)aCt>aGt	p.T584S	ADCY8_ENST00000377928.3_Missense_Mutation_p.T584S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	584					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATTAAGTAAGTTTCGATATT	0.483										HNSCC(32;0.087)																													uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1750-1752)ACT>AGT		adenylate cyclase 8							152.0	139.0	144.0					8																	131916178		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916178G>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1751C>G	8.37:g.131916178G>C	ENSP00000286355:p.Thr584Ser	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.T584S	p.T584S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	2007	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		584			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1751C>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523192	0.85600	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.82711	-1.64;-1.64;-1.64	6.17	6.17	0.99709	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	M	0.81802	2.56	0.51012	D	0.999906	D;P	0.58620	0.983;0.802	D;B	0.70487	0.969;0.313	D	0.90804	0.4696	10	0.52906	T	0.07	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	584;584	E7EVL1;P40145	.;ADCY8_HUMAN	S	584;584;199	ENSP00000286355:T584S;ENSP00000367161:T584S;ENSP00000428010:T199S	ENSP00000286355:T584S	T	-	2	0	ADCY8	131985360	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	9.827000	0.99397	2.941000	0.99782	0.655000	0.94253	ACT		0.483	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			12	103	0	0	0	0.003163	0	12	103				
ADCY8	114	broad.mit.edu	37	8	132002707	132002707	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:132002707G>T	ENST00000286355.5	-	2	3134	c.1042C>A	c.(1042-1044)Caa>Aaa	p.Q348K	ADCY8_ENST00000377928.3_Missense_Mutation_p.Q348K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	348					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGAAAGCTTGGCGCTGGGCC	0.517										HNSCC(32;0.087)																													uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1042-1044)CAA>AAA		adenylate cyclase 8							128.0	135.0	133.0					8																	132002707		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132002707G>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1042C>A	8.37:g.132002707G>T	ENSP00000286355:p.Gln348Lys	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.Q348K	p.Q348K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		2	1298	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		348			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1042C>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856878	0.71834	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.77877	-1.13;-1.1	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	N	0.13198	0.31	0.51012	D	0.999907	P;B	0.49447	0.924;0.099	P;B	0.59424	0.857;0.016	T	0.66941	-0.5796	10	0.02654	T	1	.	19.2284	0.93827	0.0:0.0:1.0:0.0	.	348;348	E7EVL1;P40145	.;ADCY8_HUMAN	K	348	ENSP00000286355:Q348K;ENSP00000367161:Q348K	ENSP00000286355:Q348K	Q	-	1	0	ADCY8	132071889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	CAA		0.517	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			30	138	1	0	8.16721e-17	0.010818	1.34072e-16	30	138				
HSF1	3297	broad.mit.edu	37	8	145512941	145512941	+	5'Flank	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:145512941G>T	ENST00000528838.1	+	0	0				BOP1_ENST00000529231.1_5'UTR|BOP1_ENST00000307404.5_Missense_Mutation_p.S48R	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1						cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CGCCAGAATCGCTGCCGGTGC	0.617																																							uc003zbr.1		NA																	0					0						c.(142-144)AGC>AGA		block of proliferation 1							62.0	54.0	57.0					8																	145512941		2203	4300	6503	SO:0001631	upstream_gene_variant	23246				cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding	g.chr8:145512941G>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604		8.37:g.145512941G>T	Exception_encountered					HSF1_uc003zbt.3_5'Flank|HSF1_uc003zbu.3_5'Flank	p.S48R	NM_015201	NP_056016	Q14137	BOP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)		2	212	-	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		48					A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.144C>A	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.354610	0.61293	.	.	ENSG00000170727	ENST00000307404	T	0.38887	1.11	4.48	-8.96	0.00761	.	2.158910	0.02225	U	0.064391	T	0.17195	0.0413	N	0.08118	0	0.09310	N	0.999994	B	0.09022	0.002	B	0.06405	0.002	T	0.10177	-1.0641	10	0.25106	T	0.35	0.0141	3.0702	0.06227	0.2482:0.1212:0.5386:0.0921	.	48	Q14137	BOP1_HUMAN	R	48	ENSP00000304151:S48R	ENSP00000304151:S48R	S	-	3	2	BOP1	145483749	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.945000	0.03909	-2.092000	0.00857	-0.165000	0.13383	AGC		0.617	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		13	32	1	0	9.31168e-06	0.001855	1.1107e-05	13	32				
ZNF16	7564	broad.mit.edu	37	8	146157370	146157370	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr8:146157370C>A	ENST00000276816.4	-	4	989	c.803G>T	c.(802-804)aGc>aTc	p.S268I	ZNF16_ENST00000394909.2_Missense_Mutation_p.S268I	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	268	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CCCACATTCGCTGCACTGGTA	0.458																																							uc003zet.2		NA																	0				ovary(5)	5						c.(802-804)AGC>ATC		zinc finger protein 16							127.0	128.0	128.0					8																	146157370		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157370C>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.803G>T	8.37:g.146157370C>A	ENSP00000276816:p.Ser268Ile					ZNF16_uc003zeu.2_Missense_Mutation_p.S268I	p.S268I	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	990	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	268			C2H2-type 3.		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.803G>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489532	0.44249	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.16457	2.34;2.34	3.76	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16854	0.0405	L	0.52011	1.625	0.09310	N	1	P	0.44309	0.832	P	0.45998	0.5	T	0.19811	-1.0294	9	0.41790	T	0.15	.	5.4779	0.16706	0.0:0.2041:0.422:0.3739	.	268	P17020	ZNF16_HUMAN	I	268	ENSP00000276816:S268I;ENSP00000378369:S268I	ENSP00000276816:S268I	S	-	2	0	ZNF16	146128174	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.566000	0.00429	-0.054000	0.13266	-0.499000	0.04595	AGC		0.458	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		24	104	1	0	1.2476e-16	0.00632	2.03594e-16	24	104				
GLDC	2731	broad.mit.edu	37	9	6540061	6540061	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:6540061G>T	ENST00000321612.6	-	22	2805	c.2655C>A	c.(2653-2655)ctC>ctA	p.L885L	RN7SL25P_ENST00000583862.1_RNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	885					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CATAATCCTGGAGTCTCTTGG	0.458																																							uc003zkc.2		NA																	0				ovary(2)	2						c.(2653-2655)CTC>CTA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						138.0	121.0	126.0					9																	6540061		2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6540061G>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2655C>A	9.37:g.6540061G>T							p.L885L	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	22	2848	-		Acute lymphoblastic leukemia(23;0.161)	885					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.2655C>A	CCDS34987.1																																																																																				0.458	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		15	82	1	0	1.45105e-14	0.006122	2.26539e-14	15	82				
PTPRD	5789	broad.mit.edu	37	9	8465638	8465638	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:8465638C>G	ENST00000381196.4	-	29	4085	c.3542G>C	c.(3541-3543)cGt>cCt	p.R1181P	PTPRD_ENST00000486161.1_Missense_Mutation_p.R770P|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1181P|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1168P|PTPRD_ENST00000397606.3_Missense_Mutation_p.R760P|PTPRD_ENST00000397617.3_Missense_Mutation_p.R760P|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1181P|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1159P|PTPRD_ENST00000355233.5_Missense_Mutation_p.R770P|PTPRD_ENST00000537002.1_Missense_Mutation_p.R767P|PTPRD_ENST00000397611.3_Missense_Mutation_p.R767P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1181		Cleavage. {ECO:0000305}.			heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTCCCATAACGGATGCTTCT	0.403										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3541-3543)CGT>CCT		protein tyrosine phosphatase, receptor type, D							119.0	113.0	115.0					9																	8465638		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8465638C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3542G>C	9.37:g.8465638C>G	ENSP00000370593:p.Arg1181Pro	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.R770P|PTPRD_uc003zkq.2_Missense_Mutation_p.R770P|PTPRD_uc003zkr.2_Missense_Mutation_p.R765P|PTPRD_uc003zks.2_Missense_Mutation_p.R760P|PTPRD_uc003zkl.2_Missense_Mutation_p.R1172P|PTPRD_uc003zkm.2_Missense_Mutation_p.R1168P|PTPRD_uc003zkn.2_Missense_Mutation_p.R770P|PTPRD_uc003zko.2_Missense_Mutation_p.R767P	p.R1181P	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4253	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1181	R->A: No reduction in cleavage. 10-fold reduction in cleavage; when associated with A-1178.		Extracellular (Potential).	Cleavage (Probable).	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3542G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655509	0.67586	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.47;0.52;0.67;0.8;0.55;0.45;0.43;0.67;0.8	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73931	0.3650	M	0.75615	2.305	0.80722	D	1	D;P;D;D;D;D;B;D;D	0.89917	0.99;0.835;0.996;0.996;0.999;0.989;0.087;1.0;0.996	P;B;D;P;D;P;B;D;D	0.87578	0.864;0.157;0.969;0.694;0.993;0.736;0.105;0.998;0.969	T	0.73072	-0.4098	9	.	.	.	.	19.7567	0.96296	0.0:1.0:0.0:0.0	.	760;765;770;770;767;767;1168;1181;1181	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	P	1181;1181;1168;1159;770;760;767;767;652;1181;770;760	ENSP00000370593:R1181P;ENSP00000348812:R1181P;ENSP00000353187:R1168P;ENSP00000351293:R1159P;ENSP00000347373:R770P;ENSP00000380741:R760P;ENSP00000380735:R767P;ENSP00000440515:R767P;ENSP00000438164:R1181P;ENSP00000417093:R770P;ENSP00000380731:R760P	.	R	-	2	0	PTPRD	8455638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.746000	0.94184	0.650000	0.86243	CGT		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			14	58	0	0	0	0.004007	0	14	58				
SLC24A2	25769	broad.mit.edu	37	9	19573416	19573416	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:19573416G>T	ENST00000341998.2	-	6	1341	c.1280C>A	c.(1279-1281)tCc>tAc	p.S427Y	SLC24A2_ENST00000286344.3_Missense_Mutation_p.S410Y	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	427					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGCATCACTGGATGGTGTCAT	0.433																																							uc003zoa.1		NA																	0				ovary(3)	3						c.(1279-1281)TCC>TAC		solute carrier family 24							214.0	184.0	194.0					9																	19573416		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19573416G>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.1280C>A	9.37:g.19573416G>T	ENSP00000344801:p.Ser427Tyr					SLC24A2_uc003zob.1_Missense_Mutation_p.S410Y	p.S427Y	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	6	1342	-			427			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1280C>A	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372544	0.24857	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75589	-0.94;-0.95	5.03	4.09	0.47781	.	0.492723	0.21899	N	0.067471	T	0.64000	0.2559	L	0.29908	0.895	0.32232	N	0.573793	B;B	0.20887	0.0;0.049	B;B	0.28385	0.003;0.089	T	0.64445	-0.6406	9	.	.	.	.	14.3435	0.66643	0.0:0.149:0.851:0.0	.	410;427	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	Y	427;410	ENSP00000344801:S427Y;ENSP00000286344:S410Y	.	S	-	2	0	SLC24A2	19563416	1.000000	0.71417	0.141000	0.22245	0.622000	0.37654	5.237000	0.65360	2.322000	0.78497	0.549000	0.68633	TCC		0.433	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		20	74	1	0	1.96895e-08	0.00278	2.57861e-08	20	74				
MOB3B	79817	broad.mit.edu	37	9	27455202	27455202	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:27455202T>A	ENST00000262244.5	-	2	771	c.347A>T	c.(346-348)cAg>cTg	p.Q116L		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	116							metal ion binding (GO:0046872)										GTTCATGTACTGGGGAGCTGG	0.478																																							uc003zqn.2		NA																	0				ovary(1)|pleura(1)	2						c.(346-348)CAG>CTG		MOB1, Mps One Binder kinase activator-like 2B							102.0	95.0	97.0					9																	27455202		2203	4300	6503	SO:0001583	missense	79817						metal ion binding|protein binding	g.chr9:27455202T>A	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.347A>T	9.37:g.27455202T>A	ENSP00000262244:p.Gln116Leu						p.Q116L	NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)	2	843	-		all_neural(11;9.12e-11)	116					Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	c.347A>T	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.325136	0.60634	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	M	0.64404	1.975	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.59731	-0.7399	9	0.62326	D	0.03	-24.5235	15.0387	0.71770	0.0:0.0:0.0:1.0	.	116	Q86TA1	MOB3B_HUMAN	L	116	.	ENSP00000262244:Q116L	Q	-	2	0	MOBKL2B	27445202	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.272000	0.72575	2.231000	0.72958	0.460000	0.39030	CAG		0.478	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		3	69	0	0	0	0.009096	0	3	69				
GBA2	57704	broad.mit.edu	37	9	35751401	35751401	+	5'Flank	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:35751401G>T	ENST00000378103.3	-	0	0				MSMP_ENST00000414286.1_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.R209L|RGP1_ENST00000456972.2_Missense_Mutation_p.R249L|GBA2_ENST00000545786.1_5'Flank|GBA2_ENST00000378094.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACATCCTGCCGCAGCCTCCGT	0.532																																							uc011lpf.1		NA																	0				ovary(1)	1						c.(625-627)CGC>CTC		RGP1 retrograde golgi transport homolog							46.0	52.0	50.0					9																	35751401		2045	4207	6252	SO:0001631	upstream_gene_variant	9827							g.chr9:35751401G>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35751401G>T	Exception_encountered					GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.R249L	p.R209L	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	767	+	all_epithelial(49;0.167)		209					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.626G>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270213	0.80469	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.82	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.81112	2.525	0.80722	D	1	P;P	0.46220	0.874;0.874	P;P	0.53035	0.716;0.716	T	0.76364	-0.2986	9	0.72032	D	0.01	-14.8918	10.3789	0.44099	0.1637:0.0:0.8363:0.0	.	209;209	Q92546;A8K0K1	RGP1_HUMAN;.	L	249;209	.	ENSP00000367318:R209L	R	+	2	0	RGP1	35741401	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	8.441000	0.90313	1.477000	0.48234	0.561000	0.74099	CGC		0.532	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		11	54	1	0	4.68919e-08	0.008291	6.06449e-08	11	54				
FRMPD1	22844	broad.mit.edu	37	9	37746729	37746729	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:37746729G>C	ENST00000539465.1	+	16	5293	c.4700G>C	c.(4699-4701)tGt>tCt	p.C1567S	FRMPD1_ENST00000377765.3_Missense_Mutation_p.C1567S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1567						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCCGTGTTCTGTTTGACCCAG	0.607																																							uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4699-4701)TGT>TCT		FERM and PDZ domain containing 1							75.0	82.0	79.0					9																	37746729		2203	4299	6502	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746729G>C	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4700G>C	9.37:g.37746729G>C	ENSP00000444411:p.Cys1567Ser					FRMPD1_uc004aah.1_Missense_Mutation_p.C1567S	p.C1567S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4744	+			1567					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4700G>C	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688985	0.88735	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.13420	2.59;2.59	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00638	-1.1632	10	0.62326	D	0.03	-2.3598	17.3577	0.87341	0.0:0.0:1.0:0.0	.	1567	Q5SYB0	FRPD1_HUMAN	S	1567	ENSP00000366995:C1567S;ENSP00000444411:C1567S	ENSP00000366995:C1567S	C	+	2	0	FRMPD1	37736729	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.696000	0.68287	2.704000	0.92352	0.655000	0.94253	TGT		0.607	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		28	121	0	0	0	0.010818	0	28	121				
PRUNE2	158471	broad.mit.edu	37	9	79469073	79469073	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:79469073A>T	ENST00000376718.3	-	2	211	c.88T>A	c.(88-90)Tgt>Agt	p.C30S	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.C30S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	30					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAAGTCACACGATTTAGGC	0.358																																							uc010mpk.2		NA																	0					0						c.(88-90)TGT>AGT		prune homolog 2							122.0	107.0	112.0					9																	79469073		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79469073A>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.88T>A	9.37:g.79469073A>T	ENSP00000365908:p.Cys30Ser					PRUNE2_uc004akn.2_Missense_Mutation_p.C30S	p.C30S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			2	212	-			30					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.88T>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789217	0.70337	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.15487	2.42;2.42	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	T	0.09975	-1.0650	10	0.21540	T	0.41	.	15.7343	0.77831	1.0:0.0:0.0:0.0	.	30;30	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	S	30;29;30	ENSP00000365908:C30S;ENSP00000365903:C30S	ENSP00000365903:C30S	C	-	1	0	PRUNE2	78658893	1.000000	0.71417	0.918000	0.36340	0.560000	0.35617	6.066000	0.71185	2.115000	0.64714	0.533000	0.62120	TGT		0.358	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		4	45	0	0	0	0.000602	0	4	45				
SPATA31D1	389763	broad.mit.edu	37	9	84609203	84609203	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:84609203G>T	ENST00000344803.2	+	4	3865	c.3818G>T	c.(3817-3819)aGg>aTg	p.R1273M		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1273					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGGAGCCCAGGGTCCCTACC	0.542																																							uc004amn.2		NA																	0					0						c.(3817-3819)AGG>ATG		hypothetical protein LOC389763							77.0	77.0	77.0					9																	84609203		1984	4161	6145	SO:0001583	missense	389763					integral to membrane		g.chr9:84609203G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3818G>T	9.37:g.84609203G>T	ENSP00000341988:p.Arg1273Met						p.R1273M	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3865	+			1273						Missense_Mutation	SNP	ENST00000344803.2	37	c.3818G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	6.678	0.493663	0.12702	.	.	ENSG00000214929	ENST00000344803	T	0.05319	3.46	3.26	0.225	0.15325	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	P	0.45957	0.869	B	0.39217	0.294	T	0.37454	-0.9705	9	0.31617	T	0.26	0.3696	2.0203	0.03507	0.1188:0.1981:0.4796:0.2035	.	1273	Q6ZQQ2	F75D1_HUMAN	M	1273	ENSP00000341988:R1273M	ENSP00000341988:R1273M	R	+	2	0	FAM75D1	83799023	0.009000	0.17119	0.001000	0.08648	0.004000	0.04260	0.730000	0.26043	0.048000	0.15891	-0.150000	0.13652	AGG		0.542	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		12	75	1	0	1.08611e-07	0.010729	1.38734e-07	12	75				
AUH	549	broad.mit.edu	37	9	93979560	93979560	+	Splice_Site	SNP	T	T	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:93979560T>C	ENST00000375731.4	-	8	916	c.893A>G	c.(892-894)gAg>gGg	p.E298G	AUH_ENST00000303617.5_Splice_Site_p.E269G	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	298					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GGAACCTACCTCCATCCCTTG	0.303																																							uc004arf.3		NA																	0					0						c.(892-894)GAG>GGG		AU RNA binding protein/enoyl-Coenzyme A							116.0	107.0	110.0					9																	93979560		2203	4300	6503	SO:0001630	splice_region_variant	549				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	g.chr9:93979560T>C	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.894+1A>G	9.37:g.93979560T>C						AUH_uc004arg.3_Missense_Mutation_p.E269G	p.E298G	NM_001698	NP_001689	Q13825	AUHM_HUMAN			8	928	-			298					B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	ENST00000375731.4	37	c.893A>G	CCDS6689.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518359	0.85495	.	.	ENSG00000148090	ENST00000375731;ENST00000303617	T;T	0.69926	-0.44;-0.44	5.21	5.21	0.72293	Crontonase, C-terminal (1);	0.049440	0.85682	D	0.000000	T	0.78007	0.4216	L	0.55017	1.72	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73380	0.976;0.98	T	0.80398	-0.1399	10	0.87932	D	0	.	15.2476	0.73517	0.0:0.0:0.0:1.0	.	269;298	Q13825-2;Q13825	.;AUHM_HUMAN	G	298;269	ENSP00000364883:E298G;ENSP00000307334:E269G	ENSP00000307334:E269G	E	-	2	0	AUH	93019381	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.107000	0.77047	2.198000	0.70561	0.482000	0.46254	GAG		0.303	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1		Missense_Mutation	16	34	0	0	0	0.006122	0	16	34				
ANKRD19P	138649	broad.mit.edu	37	9	95576207	95576207	+	RNA	SNP	G	G	A	rs41273376		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:95576207G>A	ENST00000473204.1	+	0	650							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											GGAACATGGCGCCAATCCAAA	0.413																																							uc011lua.1		NA																	0					0						c.(373-375)GCC>ACC		SubName: Full=ANKRD19 protein; SubName: Full=cDNA FLJ77364, highly similar to Homo sapiens ankyrin repeat domain 19 (ANKRD19), mRNA; SubName: Full=Ankyrin repeat domain 19, isoform CRA_a;		G		2,1382		0,2,690	72.0	54.0	60.0			1.7	0.0	9	dbSNP_127	60	5,3177		0,5,1586	no	intergenic				0,7,2276	AA,AG,GG		0.1571,0.1445,0.1533			95576207	7,4559	692	1591	2283			138649							g.chr9:95576207G>A	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95576207G>A						ANKRD19_uc004ass.2_RNA|ANKRD19_uc004asr.3_RNA	p.A125T							3	427	+								A8K853|Q17RD3	Missense_Mutation	SNP	ENST00000473204.1	37	c.373G>A																																																																																					0.413	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053116.3	NR_026868		3	45	0	0	0	0.000602	0	3	45				
PTCH1	5727	broad.mit.edu	37	9	98248113	98248113	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:98248113C>G	ENST00000331920.6	-	3	737	c.438G>C	c.(436-438)aaG>aaC	p.K146N	PTCH1_ENST00000430669.2_Missense_Mutation_p.K80N|PTCH1_ENST00000421141.1_5'UTR|PTCH1_ENST00000468211.2_Missense_Mutation_p.K80N|PTCH1_ENST00000437951.1_Missense_Mutation_p.K80N|PTCH1_ENST00000429896.2_5'UTR|PTCH1_ENST00000418258.1_5'UTR|PTCH1_ENST00000375274.2_Missense_Mutation_p.K145N|PTCH1_ENST00000548379.1_5'UTR	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	146					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTCTCCAATCTTCTGGCGAG	0.403																																							uc004avk.3		NA																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(436-438)AAG>AAC		patched isoform L							197.0	205.0	202.0					9																	98248113		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98248113C>G	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.438G>C	9.37:g.98248113C>G	ENSP00000332353:p.Lys146Asn					PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Missense_Mutation_p.K80N|PTCH1_uc004avm.3_Missense_Mutation_p.K145N|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_Intron|PTCH1_uc004avo.2_Missense_Mutation_p.K80N|PTCH1_uc010mrv.1_RNA|PTCH1_uc010mrw.1_RNA	p.K146N	NM_000264	NP_000255	Q13635	PTC1_HUMAN			3	626	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	146			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.438G>C	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360954	0.82353	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000430669;ENST00000375274;ENST00000468211	D;D;D;D;D	0.90900	-1.63;-2.72;-2.72;-2.75;-1.63	5.66	5.66	0.87406	.	0.086182	0.85682	D	0.000000	D	0.94331	0.8178	M	0.68317	2.08	0.80722	D	1	P;D;P	0.67145	0.829;0.996;0.94	P;D;P	0.67231	0.677;0.95;0.601	D	0.92074	0.5667	10	0.25106	T	0.35	-27.6835	19.7374	0.96212	0.0:1.0:0.0:0.0	.	80;145;146	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	N	146;80;80;145;80	ENSP00000332353:K146N;ENSP00000389744:K80N;ENSP00000410287:K80N;ENSP00000364423:K145N;ENSP00000449745:K80N	ENSP00000332353:K146N	K	-	3	2	PTCH1	97287934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.594000	0.61041	2.672000	0.90937	0.591000	0.81541	AAG		0.403	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	138	0	0	0	0.009096	0	4	138				
BAAT	570	broad.mit.edu	37	9	104125069	104125069	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:104125069C>T	ENST00000395051.3	-	3	968	c.898G>A	c.(898-900)Gag>Aag	p.E300K	BAAT_ENST00000259407.2_Missense_Mutation_p.E300K			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	300					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TGAGTTGTCTCAAAAGTGCGA	0.453																																							uc010mtd.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(898-900)GAG>AAG		bile acid Coenzyme A: amino acid	Glycine(DB00145)						103.0	104.0	103.0					9																	104125069		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104125069C>T	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.898G>A	9.37:g.104125069C>T	ENSP00000378491:p.Glu300Lys					BAAT_uc004bbd.3_Missense_Mutation_p.E300K	p.E300K	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN			4	1007	-		Acute lymphoblastic leukemia(62;0.0559)	300					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.898G>A	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	C	7.109	0.575711	0.13623	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.28895	1.59;1.59	4.96	1.08	0.20341	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	1.301630	0.04946	N	0.459433	T	0.23054	0.0557	L	0.28556	0.865	0.09310	N	1	B	0.16802	0.019	B	0.17098	0.017	T	0.27706	-1.0066	10	0.48119	T	0.1	-5.0E-4	4.8905	0.13724	0.0:0.4679:0.2896:0.2424	.	300	Q14032	BAAT_HUMAN	K	300	ENSP00000259407:E300K;ENSP00000378491:E300K	ENSP00000259407:E300K	E	-	1	0	BAAT	103164890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.195000	0.17155	0.025000	0.15241	-0.137000	0.14449	GAG		0.453	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			9	68	0	0	0	0.008291	0	9	68				
RAD23B	5887	broad.mit.edu	37	9	110074006	110074006	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:110074006A>G	ENST00000358015.3	+	5	892	c.541A>G	c.(541-543)Acg>Gcg	p.T181A	RAD23B_ENST00000416373.2_Missense_Mutation_p.T109A	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	181					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGAAGATGCAACGAGTGCACT	0.289								Direct reversal of damage;Nucleotide excision repair (NER)																															uc004bde.2		NA																	0				ovary(1)	1						c.(541-543)ACG>GCG	Direct_reversal_of_damage|NER	UV excision repair protein RAD23 homolog B							87.0	85.0	86.0					9																	110074006		2203	4298	6501	SO:0001583	missense	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110074006A>G		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.541A>G	9.37:g.110074006A>G	ENSP00000350708:p.Thr181Ala					RAD23B_uc011lwa.1_Missense_Mutation_p.T181A|RAD23B_uc011lwb.1_Missense_Mutation_p.T160A	p.T181A	NM_002874	NP_002865	P54727	RD23B_HUMAN			5	908	+			181					B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.541A>G	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	A	5.966	0.362153	0.11296	.	.	ENSG00000119318	ENST00000358015;ENST00000374678;ENST00000416373	T;T	0.54279	0.58;0.58	5.08	5.08	0.68730	UBA-like (1);	0.161766	0.56097	D	0.000038	T	0.44329	0.1288	L	0.58101	1.795	0.43652	D	0.996061	B;B;B	0.32918	0.39;0.024;0.024	B;B;B	0.29862	0.108;0.024;0.014	T	0.43605	-0.9381	10	0.02654	T	1	-13.9156	15.1655	0.72821	1.0:0.0:0.0:0.0	.	160;181;181	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	A	181;109;109	ENSP00000350708:T181A;ENSP00000405623:T109A	ENSP00000350708:T181A	T	+	1	0	RAD23B	109113827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.437000	0.73421	2.040000	0.60383	0.528000	0.53228	ACG		0.289	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		6	28	0	0	0	0.004482	0	6	28				
ASTN2	23245	broad.mit.edu	37	9	119770372	119770372	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:119770372G>T	ENST00000313400.4	-	7	1690	c.1590C>A	c.(1588-1590)acC>acA	p.T530T	ASTN2_ENST00000373996.3_Splice_Site_p.T530T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Splice_Site_p.T479T			O75129	ASTN2_HUMAN	astrotactin 2	530	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ATGGCTCACCGGTTTCTGGGT	0.557																																							uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1588-1590)ACC>ACA		astrotactin 2 isoform c							59.0	57.0	57.0					9																	119770372		2203	4300	6503	SO:0001630	splice_region_variant	23245					integral to membrane		g.chr9:119770372G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1591+1C>A	9.37:g.119770372G>T						ASTN2_uc004bjr.1_Silent_p.T530T|ASTN2_uc004bjt.1_Silent_p.T479T	p.T530T	NM_198187	NP_937830	O75129	ASTN2_HUMAN			7	1691	-			530			Extracellular (Potential).|EGF-like 1.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1590C>A																																																																																					0.557	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	Silent	18	53	1	0	1.01871e-10	0.008871	1.46109e-10	18	53				
TLR4	7099	broad.mit.edu	37	9	120476891	120476891	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:120476891A>C	ENST00000355622.6	+	3	2586	c.2485A>C	c.(2485-2487)Aca>Cca	p.T829P	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.T789P	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	829					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AACAGTGGGTACAGGATGCAA	0.493																																							uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2485-2487)ACA>CCA		toll-like receptor 4 precursor							83.0	86.0	85.0					9																	120476891		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476891A>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2485A>C	9.37:g.120476891A>C	ENSP00000363089:p.Thr829Pro					TLR4_uc004bka.2_Missense_Mutation_p.T789P|TLR4_uc004bkb.2_Missense_Mutation_p.T629P	p.T829P	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2776	+			829			Cytoplasmic (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.2485A>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.875180	0.33162	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.38722	1.43;1.12	6.03	0.414	0.16406	.	1.024940	0.07735	N	0.945917	T	0.19967	0.0480	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.23904	-1.0175	10	0.59425	D	0.04	.	1.6315	0.02733	0.1602:0.1407:0.4098:0.2893	.	829	O00206	TLR4_HUMAN	P	789;829	ENSP00000377997:T789P;ENSP00000363089:T829P	ENSP00000363089:T829P	T	+	1	0	TLR4	119516712	0.000000	0.05858	0.022000	0.16811	0.002000	0.02628	-0.288000	0.08377	0.376000	0.24707	-0.177000	0.13119	ACA		0.493	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		9	77	0	0	0	0.008291	0	9	77				
PTGS1	5742	broad.mit.edu	37	9	125154703	125154703	+	Silent	SNP	G	G	T	rs199581775		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:125154703G>T	ENST00000362012.2	+	11	1685	c.1680G>T	c.(1678-1680)acG>acT	p.T560T	PTGS1_ENST00000373698.5_Silent_p.T451T|PTGS1_ENST00000223423.4_Silent_p.T523T|PTGS1_ENST00000540753.1_Silent_p.T498T	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	560					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTGTCAAGACGGCCACACTGA	0.567																																							uc004bmg.1		NA																	0				ovary(1)|skin(1)	2						c.(1678-1680)ACG>ACT		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						112.0	103.0	106.0					9																	125154703		2203	4300	6503	SO:0001819	synonymous_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154703G>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1680G>T	9.37:g.125154703G>T						PTGS1_uc011lys.1_Silent_p.T498T|PTGS1_uc010mwb.1_Silent_p.T414T|PTGS1_uc004bmf.1_Silent_p.T523T|PTGS1_uc004bmh.1_Silent_p.T451T|PTGS1_uc011lyt.1_Silent_p.T451T	p.T560T	NM_000962	NP_000953	P23219	PGH1_HUMAN			11	1815	+			560					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.1680G>T	CCDS6842.1																																																																																				0.567	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			19	66	1	0	2.4624e-09	0.008871	3.33006e-09	19	66				
RALGPS1	9649	broad.mit.edu	37	9	129975264	129975264	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:129975264G>T	ENST00000259351.5	+	17	1755	c.1488G>T	c.(1486-1488)tgG>tgT	p.W496C	RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.W454C|RALGPS1_ENST00000373434.1_Missense_Mutation_p.W446C	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	496	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCGTGGGCTGGATGGTGCAGC	0.592																																							uc004bqo.1		NA																	0				ovary(1)	1						c.(1486-1488)TGG>TGT		Ral GEF with PH domain and SH3 binding motif 1							69.0	66.0	67.0					9																	129975264		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129975264G>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1488G>T	9.37:g.129975264G>T	ENSP00000259351:p.Trp496Cys					RALGPS1_uc011mac.1_Missense_Mutation_p.W454C|RALGPS1_uc004bqq.3_Missense_Mutation_p.W446C	p.W496C	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN			17	1755	+			496			Required for stimulation of nucleotide exchange by RALA.|PH.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.1488G>T	CCDS35143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.386737|4.386737	0.82902|0.82902	.|.	.|.	ENSG00000136828|ENSG00000136828	ENST00000438723|ENST00000259351;ENST00000424082;ENST00000373434	.|T;T;T	.|0.72167	.|-0.63;-0.63;-0.63	5.19|5.19	5.19|5.19	0.71726|0.71726	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.188718	.|0.50627	.|D	.|0.000103	T|T	0.81973|0.81973	0.4936|0.4936	L|L	0.56280|0.56280	1.765|1.765	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.999	T|T	0.83033|0.83033	-0.0161|-0.0161	5|10	.|0.59425	.|D	.|0.04	.|.	18.7267|18.7267	0.91716|0.91716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|454;446;496	.|E9PBQ5;Q5JS13-2;Q5JS13	.|.;.;RGPS1_HUMAN	V|C	92|496;454;446	.|ENSP00000259351:W496C;ENSP00000415630:W454C;ENSP00000362533:W446C	.|ENSP00000259351:W496C	G|W	+|+	2|3	0|0	RALGPS1|RALGPS1	129015085|129015085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.971000|8.971000	0.93419|0.93419	2.411000|2.411000	0.81874|0.81874	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.592	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		13	55	1	0	6.94344e-10	0.006122	9.60954e-10	13	55				
PRRC2B	84726	broad.mit.edu	37	9	134360124	134360124	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:134360124A>T	ENST00000357304.4	+	23	5567	c.5512A>T	c.(5512-5514)Agg>Tgg	p.R1838W	PRRC2B_ENST00000405995.1_Missense_Mutation_p.R1144W|SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000372249.1_De_novo_Start_InFrame|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R1144W	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1838							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCACATCCAGAGGGCCATCGG	0.577																																							uc004can.3		NA																	0					0						c.(5512-5514)AGG>TGG		HLA-B associated transcript 2-like							146.0	145.0	145.0					9																	134360124		1996	4167	6163	SO:0001583	missense	84726						protein binding	g.chr9:134360124A>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5512A>T	9.37:g.134360124A>T	ENSP00000349856:p.Arg1838Trp					BAT2L1_uc004cao.3_Missense_Mutation_p.R1195W|BAT2L1_uc004cap.3_5'Flank|SNORD62A_uc004caq.2_5'Flank	p.R1838W	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			23	5567	+			1838					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.5512A>T	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.581001|4.581001	0.86748|0.86748	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000405995;ENST00000357304;ENST00000458550	.|T;T;T	.|0.02787	.|4.16;4.48;4.16	5.28|5.28	-0.386|-0.386	0.12466|0.12466	.|.	.|0.171931	.|0.26079	.|U	.|0.026477	T|T	0.04003|0.04003	0.0112|0.0112	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.68483	.|0.958;0.938	T|T	0.52741|0.52741	-0.8535|-0.8535	5|10	.|0.66056	.|D	.|0.02	-32.6361|-32.6361	9.4933|9.4933	0.38974|0.38974	0.4991:0.4251:0.0758:0.0|0.4991:0.4251:0.0758:0.0	.|.	.|570;1838	.|Q5JSZ8;Q5JSZ5	.|.;PRC2B_HUMAN	V|W	570|1144;1838;1144	.|ENSP00000384606:R1144W;ENSP00000349856:R1838W;ENSP00000398853:R1144W	.|ENSP00000349856:R1838W	E|R	+|+	2|1	0|2	PRRC2B|PRRC2B	133349945|133349945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.615000|2.615000	0.46368|0.46368	0.310000|0.310000	0.22990|0.22990	0.459000|0.459000	0.35465|0.35465	GAG|AGG		0.577	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				33	160	0	0	0	0.00623	0	33	160				
SHOX	6473	broad.mit.edu	37	X	601756	601756	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:601756C>A	ENST00000554971.1	+	4	658	c.567C>A	c.(565-567)aaC>aaA	p.N189K	SHOX_ENST00000381578.1_Missense_Mutation_p.N189K|SHOX_ENST00000334060.3_Missense_Mutation_p.N189K|SHOX_ENST00000381575.1_Missense_Mutation_p.N189K			O15266	SHOX_HUMAN	short stature homeobox	189					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACAGCCAACCACCTAGACG	0.582																																					Ovarian(95;18 1419 12424 14056 28266)	Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1		NA																	0					0						c.(565-567)AAC>AAA		short stature homeobox isoform SHOXa							228.0	201.0	210.0					X																	601756		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601756C>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.567C>A	X.37:g.601756C>A	ENSP00000452016:p.Asn189Lys					SHOX_uc004cpi.2_Missense_Mutation_p.N189K	p.N189K	NM_000451	NP_000442	O15266	SHOX_HUMAN			5	1258	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	189					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.567C>A	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	C	5.050	0.194826	0.09599	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94330	-3.4;-3.25;-3.25;-3.4	1.53	-0.837	0.10766	.	0.055071	0.64402	U	0.000001	T	0.81356	0.4805	N	0.08118	0	0.09310	N	1	B;B	0.17852	0.024;0.002	B;B	0.17979	0.02;0.005	T	0.68907	-0.5285	10	0.35671	T	0.21	.	6.1502	0.20308	0.0:0.611:0.0:0.389	.	189;189	O15266-2;O15266	.;SHOX_HUMAN	K	189	ENSP00000335505:N189K;ENSP00000370990:N189K;ENSP00000452016:N189K;ENSP00000370987:N189K	ENSP00000335505:N189K	N	+	3	2	SHOX	521756	0.961000	0.32948	0.731000	0.30826	0.149000	0.21700	-0.018000	0.12568	-0.570000	0.06022	0.115000	0.15696	AAC		0.582	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		11	58	1	0	6.40141e-05	0.010729	7.33993e-05	11	58				
SLC25A6	293	broad.mit.edu	37	X	1505553	1505553	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:1505553C>A	ENST00000381401.5	-	4	1553	c.839G>T	c.(838-840)cGg>cTg	p.R280L	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	280					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)	p.R280L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCCCATGCCCCGCAGGACGTT	0.612																																							uc004cpt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(838-840)CGG>CTG		adenine nucleotide translocator 3	Clodronate(DB00720)						253.0	229.0	237.0					X																	1505553		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1505553C>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.839G>T	X.37:g.1505553C>A	ENSP00000370808:p.Arg280Leu					SLC25A6_uc004cpu.2_RNA	p.R280L	NM_001636	NP_001627	P12236	ADT3_HUMAN			4	935	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	280			Helical; Name=6; (By similarity).|Solcar 3.		Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.839G>T	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	14.70	2.612855	0.46631	.	.	ENSG00000169100	ENST00000381401	T	0.81330	-1.48	1.85	1.85	0.25348	Mitochondrial carrier domain (2);	0.000000	0.50627	U	0.000110	D	0.90324	0.6973	H	0.97023	3.925	0.09310	N	1	D	0.60575	0.988	P	0.56434	0.798	D	0.83942	0.0312	10	0.87932	D	0	.	12.0543	0.53524	0.0:1.0:0.0:0.0	.	280	P12236	ADT3_HUMAN	L	280	ENSP00000370808:R280L	ENSP00000370808:R280L	R	-	2	0	SLC25A6	1465553	1.000000	0.71417	0.016000	0.15963	0.584000	0.36387	5.933000	0.70130	0.982000	0.38575	0.402000	0.26972	CGG		0.612	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		32	186	1	0	1.36161e-19	0.004289	2.29894e-19	32	186				
NLGN4X	57502	broad.mit.edu	37	X	5810940	5810940	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:5810940T>A	ENST00000381095.3	-	6	2996	c.2369A>T	c.(2368-2370)cAg>cTg	p.Q790L	NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q790L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q810L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q790L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q790L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	790					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGCAAAGGCTGCATCCCCGT	0.507																																							uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(2368-2370)CAG>CTG		X-linked neuroligin 4 precursor							283.0	233.0	250.0					X																	5810940		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5810940T>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2369A>T	X.37:g.5810940T>A	ENSP00000370485:p.Gln790Leu					NLGN4X_uc004crp.2_Missense_Mutation_p.Q810L|NLGN4X_uc004crq.2_Missense_Mutation_p.Q790L|NLGN4X_uc010ndi.2_Missense_Mutation_p.Q827L|NLGN4X_uc004crr.2_Missense_Mutation_p.Q790L|NLGN4X_uc010ndj.2_Missense_Mutation_p.Q790L	p.Q790L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2870	-			790			Cytoplasmic (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.2369A>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	9.575	1.122012	0.20877	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	3.82	3.82	0.43975	.	0.000000	0.30676	N	0.009116	T	0.22742	0.0549	L	0.59436	1.845	0.54753	D	0.999988	B;B;P	0.35821	0.35;0.022;0.523	B;B;B	0.42030	0.101;0.101;0.373	T	0.02933	-1.1092	10	0.62326	D	0.03	.	11.2516	0.49028	0.0:0.0:0.0:1.0	.	847;790;810	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	790;810;790;790;790	ENSP00000370485:Q790L;ENSP00000370483:Q810L;ENSP00000275857:Q790L;ENSP00000370482:Q790L;ENSP00000439203:Q790L	ENSP00000275857:Q790L	Q	-	2	0	NLGN4X	5820940	1.000000	0.71417	0.957000	0.39632	0.849000	0.48306	6.912000	0.75753	1.222000	0.43521	0.417000	0.27973	CAG		0.507	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		14	34	0	0	0	0.004007	0	14	34				
DMD	1756	broad.mit.edu	37	X	32867934	32867934	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:32867934C>A	ENST00000357033.4	-	3	303	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	snoU13_ENST00000459244.1_RNA|DMD_ENST00000288447.4_Missense_Mutation_p.G25W|DMD_ENST00000378677.2_Missense_Mutation_p.G29W	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	33	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.		Missing (in BMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCTGCTTCCCAAACTGAAAT	0.403																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(97-99)GGG>TGG		dystrophin Dp427m isoform							70.0	66.0	67.0					X																	32867934		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32867934C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.97G>T	X.37:g.32867934C>A	ENSP00000354923:p.Gly33Trp					DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Missense_Mutation_p.G29W|DMD_uc004ddb.1_Missense_Mutation_p.G25W|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.G25W|DMD_uc010ngq.1_RNA|DMD_uc010ngr.1_Intron	p.G33W	NM_004006	NP_003997	P11532	DMD_HUMAN			3	341	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	33		Missing (in BMD).	CH 1.|Actin-binding.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.97G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206142	0.79127	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447	D;D;T	0.95554	-3.74;-3.74;-0.51	5.63	5.63	0.86233	Calponin homology domain (5);	0.000000	0.35040	U	0.003497	D	0.97980	0.9335	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.986;1.0	D	0.98914	1.0781	10	0.87932	D	0	.	17.2721	0.87105	0.0:1.0:0.0:0.0	.	25;25;33;29	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	W	25;29;33;33;25	ENSP00000367948:G29W;ENSP00000354923:G33W;ENSP00000288447:G25W	ENSP00000288447:G25W	G	-	1	0	DMD	32777855	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.051000	0.71072	2.346000	0.79739	0.600000	0.82982	GGG		0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		10	29	1	0	2.17888e-05	0.006214	2.54407e-05	10	29				
ZNF81	347344	broad.mit.edu	37	X	47774711	47774711	+	Silent	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:47774711G>T	ENST00000376954.1	+	6	1034	c.666G>T	c.(664-666)ggG>ggT	p.G222G	ZNF81_ENST00000338637.7_Silent_p.G222G			P51508	ZNF81_HUMAN	zinc finger protein 81	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AAACTATTGGGCATGGTCAAG	0.358																																							uc010nhy.1		NA																	0					0						c.(664-666)GGG>GGT		zinc finger protein 81							64.0	63.0	63.0					X																	47774711		1867	4087	5954	SO:0001819	synonymous_variant	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774711G>T	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.666G>T	X.37:g.47774711G>T							p.G222G	NM_007137	NP_009068	P51508	ZNF81_HUMAN			6	1034	+		all_lung(315;0.0973)	222					Q6RX22|Q96QH6	Silent	SNP	ENST00000376954.1	37	c.666G>T	CCDS43933.1																																																																																				0.358	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		17	29	1	0	1.00905e-13	0.008871	1.54621e-13	17	29				
FGD1	2245	broad.mit.edu	37	X	54492140	54492140	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:54492140G>C	ENST00000375135.3	-	7	2219	c.1486C>G	c.(1486-1488)Cat>Gat	p.H496D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	496	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGCACCTCATGGATGATGACT	0.552																																							uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1486-1488)CAT>GAT		faciogenital dysplasia protein							70.0	59.0	63.0					X																	54492140		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54492140G>C	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1486C>G	X.37:g.54492140G>C	ENSP00000364277:p.His496Asp					FGD1_uc011moi.1_Missense_Mutation_p.H254D	p.H496D	NM_004463	NP_004454	P98174	FGD1_HUMAN			7	2220	-			496			DH.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1486C>G	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714446	0.48622	.	.	ENSG00000102302	ENST00000375135	T	0.66460	-0.21	5.54	5.54	0.83059	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000046	T	0.50411	0.1614	N	0.04959	-0.14	0.44454	D	0.997387	B;B	0.19200	0.017;0.034	B;B	0.28385	0.03;0.089	T	0.47407	-0.9120	10	0.36615	T	0.2	-14.3582	17.2074	0.86921	0.0:0.0:1.0:0.0	.	254;496	B4DS99;P98174	.;FGD1_HUMAN	D	496	ENSP00000364277:H496D	ENSP00000364277:H496D	H	-	1	0	FGD1	54508865	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.295000	0.72744	2.329000	0.79093	0.523000	0.50628	CAT		0.552	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		15	30	0	0	0	0.007413	0	15	30				
ZXDA	7789	broad.mit.edu	37	X	57934461	57934461	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:57934461C>A	ENST00000358697.4	-	1	2606	c.2394G>T	c.(2392-2394)ttG>ttT	p.L798F		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	798					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGCTTCATACCAAAAATGAGC	0.393																																							uc004dve.2		NA																	0				ovary(1)	1						c.(2392-2394)TTG>TTT		zinc finger, X-linked, duplicated A							114.0	104.0	108.0					X																	57934461		2203	4300	6503	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57934461C>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.2394G>T	X.37:g.57934461C>A	ENSP00000351530:p.Leu798Phe						p.L798F	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	2607	-			798					Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.2394G>T	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	12.82	2.052474	0.36181	.	.	ENSG00000198205	ENST00000358697	T	0.19938	2.11	3.05	2.15	0.27550	.	0.078590	0.53938	D	0.000053	T	0.35941	0.0949	L	0.54323	1.7	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	T	0.02966	-1.1088	9	.	.	.	.	9.2532	0.37568	0.0:0.7807:0.2193:0.0	.	798	P98168	ZXDA_HUMAN	F	798	ENSP00000351530:L798F	.	L	-	3	2	ZXDA	57951186	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	5.416000	0.66417	0.646000	0.30693	0.363000	0.22086	TTG		0.393	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		16	24	1	0	1.5739e-10	0.004007	2.24572e-10	16	24				
MSN	4478	broad.mit.edu	37	X	64958875	64958875	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:64958875T>A	ENST00000360270.5	+	12	1560	c.1388T>A	c.(1387-1389)cTg>cAg	p.L463Q		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	463					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CGTGCTGAGCTGAAGACTGCC	0.537			T	ALK	ALCL																																		uc004dwf.2		NA		Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(1387-1389)CTG>CAG		moesin							90.0	68.0	76.0					X																	64958875		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64958875T>A	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1388T>A	X.37:g.64958875T>A	ENSP00000353408:p.Leu463Gln						p.L463Q	NM_002444	NP_002435	P26038	MOES_HUMAN			12	1586	+			463						Missense_Mutation	SNP	ENST00000360270.5	37	c.1388T>A	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.049975	0.75846	.	.	ENSG00000147065	ENST00000360270	D	0.84730	-1.89	5.36	5.36	0.76844	Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89560	0.6750	M	0.83118	2.625	0.80722	D	1	P	0.41978	0.767	P	0.49597	0.616	D	0.89686	0.3894	10	0.46703	T	0.11	.	13.1788	0.59642	0.0:0.0:0.0:1.0	.	463	P26038	MOES_HUMAN	Q	463	ENSP00000353408:L463Q	ENSP00000353408:L463Q	L	+	2	0	MSN	64875600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	1.794000	0.52575	0.422000	0.28245	CTG		0.537	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		4	27	0	0	0	0.009096	0	4	27				
ZCCHC5	203430	broad.mit.edu	37	X	77912661	77912661	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:77912661G>T	ENST00000321110.1	-	2	1552	c.1257C>A	c.(1255-1257)aaC>aaA	p.N419K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	419							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCATAGGTTGGTTTTCAGCTG	0.527																																							uc004edc.1		NA																	0				ovary(1)	1						c.(1255-1257)AAC>AAA		zinc finger, CCHC domain containing 5							156.0	125.0	136.0					X																	77912661		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912661G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1257C>A	X.37:g.77912661G>T	ENSP00000316794:p.Asn419Lys						p.N419K	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1553	-			419					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1257C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280146	0.10458	.	.	ENSG00000179300	ENST00000321110	T	0.18174	2.23	3.2	-1.93	0.07594	.	.	.	.	.	T	0.09113	0.0225	L	0.40543	1.245	0.09310	N	1	B	0.21452	0.056	B	0.14023	0.01	T	0.42632	-0.9440	9	0.07644	T	0.81	.	2.6152	0.04902	0.3619:0.0:0.278:0.3602	.	419	Q8N8U3	ZCHC5_HUMAN	K	419	ENSP00000316794:N419K	ENSP00000316794:N419K	N	-	3	2	ZCCHC5	77799317	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.093000	0.03362	-0.718000	0.04949	-0.322000	0.08575	AAC		0.527	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		19	26	1	0	2.39187e-15	0.008871	3.84124e-15	19	26				
VDAC1	7416	broad.mit.edu	37	X	80185775	80185775	+	IGR	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:80185775C>T								RNU6-493P (29412 upstream) : RNU6-995P (6157 downstream)																							CTGACACTGTCAGCTCTTCTG	0.438																																							uc004eec.1		NA																	0					NA						c.(673-675)TCA>TTA		SubName: Full=cDNA FLJ16670 fis, clone THYMU3001133, highly similar to Voltage-dependent anion-selective channel protein 1; SubName: Full=Voltage-dependent anion channel 1, isoform CRA_a;																																				SO:0001628	intergenic_variant	0							g.chrX:80185775C>T																													X.37:g.80185775C>T							p.S225L							1	848	+									Missense_Mutation	SNP		37	c.674C>T																																																																																				0	0.438									4	19	0	0	0	0.004482	0	4	19				
PCDH11X	27328	broad.mit.edu	37	X	91090999	91090999	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:91090999C>A	ENST00000373094.1	+	1	1341	c.496C>A	c.(496-498)Cct>Act	p.P166T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.P166T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P166T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P166T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P166T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P166T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P166T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P166T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P166T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	166	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGCTGTTGATCCTGACGTAGG	0.343																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(496-498)CCT>ACT		protocadherin 11 X-linked isoform c							42.0	43.0	42.0					X																	91090999		2201	4298	6499	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090999C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.496C>A	X.37:g.91090999C>A	ENSP00000362186:p.Pro166Thr					PCDH11X_uc004efl.1_Missense_Mutation_p.P166T|PCDH11X_uc004efo.1_Missense_Mutation_p.P166T|PCDH11X_uc010nmv.1_Missense_Mutation_p.P166T|PCDH11X_uc004efm.1_Missense_Mutation_p.P166T|PCDH11X_uc004efn.1_Missense_Mutation_p.P166T|PCDH11X_uc004efh.1_Missense_Mutation_p.P166T|PCDH11X_uc004efj.1_Missense_Mutation_p.P166T	p.P166T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	1341	+			166			Extracellular (Potential).|Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.496C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966890	0.53507	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	4.44	4.44	0.53790	Cadherin (4);Cadherin-like (1);	0.060859	0.64402	D	0.000003	T	0.72236	0.3435	M	0.87328	2.875	0.53005	D	0.999967	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.99;1.0;1.0;1.0;1.0;1.0;1.0	T	0.78453	-0.2198	10	0.66056	D	0.02	.	15.4133	0.74943	0.0:1.0:0.0:0.0	.	166;166;166;166;166;166;166;166	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	166	ENSP00000378746:P166T;ENSP00000362186:P166T;ENSP00000362189:P166T;ENSP00000355040:P166T;ENSP00000362180:P166T;ENSP00000423762:P166T;ENSP00000355105:P166T;ENSP00000384758:P166T;ENSP00000298274:P166T	ENSP00000298274:P166T	P	+	1	0	PCDH11X	90977655	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	6.983000	0.76180	2.173000	0.68751	0.506000	0.49869	CCT		0.343	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		13	19	1	0	4.14922e-12	0.004007	6.15331e-12	13	19				
DIAPH2	1730	broad.mit.edu	37	X	96369870	96369870	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:96369870G>A	ENST00000324765.8	+	21	2842	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	DIAPH2_ENST00000355827.4_Missense_Mutation_p.R832K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R832K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R832K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R828K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	832	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGCTTTAACAGACTTTTAGAG	0.368																																							uc004efu.3		NA																	0				ovary(3)|lung(1)	4						c.(2494-2496)AGA>AAA		diaphanous 2 isoform 156							95.0	85.0	88.0					X																	96369870		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96369870G>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2495G>A	X.37:g.96369870G>A	ENSP00000321348:p.Arg832Lys					DIAPH2_uc004eft.3_Missense_Mutation_p.R832K	p.R832K	NM_006729	NP_006720	O60879	DIAP2_HUMAN			21	2891	+			832			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.2495G>A	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	5.156	0.214368	0.09810	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.66	2.82	0.32997	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.382752	0.24518	N	0.037825	T	0.03390	0.0098	N	0.01631	-0.79	0.27823	N	0.941724	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43393	-0.9394	10	0.02654	T	1	.	6.2898	0.21053	0.5992:0.0:0.4008:0.0	.	832;832	O60879;O60879-2	DIAP2_HUMAN;.	K	832;828;832;832;832;839	ENSP00000362152:R832K;ENSP00000362145:R828K;ENSP00000348082:R832K;ENSP00000362140:R832K;ENSP00000321348:R832K	ENSP00000321348:R832K	R	+	2	0	DIAPH2	96256526	0.994000	0.37717	0.993000	0.49108	0.996000	0.88848	0.747000	0.26290	0.493000	0.27837	0.600000	0.82982	AGA		0.368	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		13	11	0	0	0	0.001855	0	13	11				
PAK3	5063	broad.mit.edu	37	X	110390965	110390965	+	Splice_Site	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:110390965G>T	ENST00000372010.1	+	8	764	c.322G>T	c.(322-324)Gga>Tga	p.G108*	PAK3_ENST00000262836.4_Splice_Site_p.G108*|PAK3_ENST00000372007.5_Splice_Site_p.G93*|PAK3_ENST00000360648.4_Splice_Site_p.G129*|PAK3_ENST00000518291.1_Splice_Site_p.G129*|PAK3_ENST00000446737.1_Splice_Site_p.G93*|PAK3_ENST00000417227.1_Splice_Site_p.G114*|PAK3_ENST00000425146.1_Splice_Site_p.G93*|PAK3_ENST00000519681.1_Splice_Site_p.G114*			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	108	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.|Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTGTCCACAGGGAATTCCAGA	0.418										TSP Lung(19;0.15)																													uc004epa.2		NA																	0				lung(6)|ovary(3)|large_intestine(1)	10						c.(322-324)GGA>TGA		p21-activated kinase 3 isoform d							113.0	99.0	104.0					X																	110390965		2203	4300	6503	SO:0001630	splice_region_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110390965G>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.322-1G>T	X.37:g.110390965G>T		TSP Lung(19;0.15)				PAK3_uc010npt.1_Nonsense_Mutation_p.G93*|PAK3_uc010npu.1_Nonsense_Mutation_p.G93*|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Nonsense_Mutation_p.G93*|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Nonsense_Mutation_p.G129*|PAK3_uc010npw.1_Nonsense_Mutation_p.G114*	p.G108*	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			4	349	+			108			Autoregulatory region (By similarity).|Linker.|GTPase-binding (By similarity).		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Nonsense_Mutation	SNP	ENST00000372010.1	37	c.322G>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	40	7.942829	0.98574	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	.	.	.	5.74	5.74	0.90152	.	0.110176	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9393	0.92598	0.0:0.0:1.0:0.0	.	.	.	.	X	93;93;108;114;93;129;129;129;114;108	.	.	G	+	1	0	PAK3	110277621	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.421000	0.82119	0.538000	0.68166	GGA		0.418	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	Nonsense_Mutation	24	18	1	0	2.12542e-12	0.00632	3.18045e-12	24	18				
ZCCHC16	340595	broad.mit.edu	37	X	111698592	111698592	+	Silent	SNP	C	C	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:111698592C>T	ENST00000340433.2	+	1	866	c.636C>T	c.(634-636)tgC>tgT	p.C212C		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	212							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCACTCAGTGCATTCAGTTGG	0.483																																							uc004epo.1		NA																	0				ovary(1)	1						c.(634-636)TGC>TGT		zinc finger, CCHC domain containing 16							156.0	132.0	140.0					X																	111698592		2203	4300	6503	SO:0001819	synonymous_variant	340595						nucleic acid binding|zinc ion binding	g.chrX:111698592C>T	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.636C>T	X.37:g.111698592C>T							p.C212C	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1077	+			212					B2RPG1	Silent	SNP	ENST00000340433.2	37	c.636C>T	CCDS35369.1																																																																																				0.483	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		37	49	0	0	0	0.005524	0	37	49				
GRIA3	2892	broad.mit.edu	37	X	122387356	122387356	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:122387356G>T	ENST00000371251.1	+	3	523	c.471G>T	c.(469-471)aaG>aaT	p.K157N	GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000264357.5_Missense_Mutation_p.K157N|GRIA3_ENST00000541091.1_Missense_Mutation_p.K141N|GRIA3_ENST00000371256.5_Missense_Mutation_p.K157N|GRIA3_ENST00000542149.1_Missense_Mutation_p.K157N			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	157					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GTCATTACAAGTGGGAGAAGT	0.478																																							uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(469-471)AAG>AAT		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						92.0	81.0	85.0					X																	122387356		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122387356G>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.471G>T	X.37:g.122387356G>T	ENSP00000360297:p.Lys157Asn					GRIA3_uc004etr.3_Missense_Mutation_p.K157N|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.K141N	p.K157N	NM_007325	NP_015564	P42263	GRIA3_HUMAN			4	764	+			157			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.471G>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369464	0.24771	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.43	1.7	0.24286	Extracellular ligand-binding receptor (1);	0.086723	0.85682	D	0.000000	T	0.70815	0.3267	L	0.40543	1.245	0.51012	D	0.999903	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.001	T	0.57183	-0.7855	10	0.29301	T	0.29	.	5.0012	0.14266	0.3284:0.1414:0.5302:0.0	.	141;157;157	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	N	157;157;157;157;141	ENSP00000264357:K157N;ENSP00000446146:K157N;ENSP00000360302:K157N;ENSP00000360297:K157N;ENSP00000446440:K141N	ENSP00000264357:K157N	K	+	3	2	GRIA3	122215037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.537000	0.36083	0.221000	0.20879	0.513000	0.50165	AAG		0.478	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		21	31	1	0	1.66031e-10	0.003954	2.34479e-10	21	31				
SAGE1	55511	broad.mit.edu	37	X	134992256	134992256	+	Silent	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:134992256C>A	ENST00000370709.3	+	14	1791	c.1791C>A	c.(1789-1791)gtC>gtA	p.V597V	SAGE1_ENST00000537770.1_Silent_p.V221V|SAGE1_ENST00000324447.3_Silent_p.V597V|SAGE1_ENST00000535938.1_Silent_p.V597V			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	597						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCGATAATGTCTTCTCGACTG	0.403																																							uc004ezh.2		NA																	0				ovary(2)|skin(1)	3						c.(1789-1791)GTC>GTA		sarcoma antigen 1							133.0	117.0	122.0					X																	134992256		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134992256C>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1791C>A	X.37:g.134992256C>A						SAGE1_uc010nry.1_Silent_p.V566V|SAGE1_uc011mvv.1_Silent_p.V221V	p.V597V	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			15	1958	+	Acute lymphoblastic leukemia(192;0.000127)		597					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.1791C>A	CCDS14652.1																																																																																				0.403	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		35	37	1	0	4.62619e-21	0.004289	7.95666e-21	35	37				
GPR112	139378	broad.mit.edu	37	X	135469964	135469964	+	Silent	SNP	G	G	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:135469964G>A	ENST00000394143.1	+	16	8133	c.7842G>A	c.(7840-7842)acG>acA	p.T2614T	GPR112_ENST00000412101.1_Silent_p.T2409T|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Silent_p.T2614T|GPR112_ENST00000394141.1_Silent_p.T2409T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2614					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATCACTGACGGAGAGAATTC	0.388																																							uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7840-7842)ACG>ACA		G-protein coupled receptor 112							184.0	167.0	173.0					X																	135469964		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135469964G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7842G>A	X.37:g.135469964G>A						GPR112_uc010nsb.1_Silent_p.T2409T	p.T2614T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			16	8133	+	Acute lymphoblastic leukemia(192;0.000127)		2614			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.7842G>A	CCDS35409.1																																																																																				0.388	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			31	56	0	0	0	0.010818	0	31	56				
GPR112	139378	broad.mit.edu	37	X	135482015	135482015	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:135482015G>T	ENST00000394143.1	+	21	8606	c.8315G>T	c.(8314-8316)cGa>cTa	p.R2772L	GPR112_ENST00000412101.1_Missense_Mutation_p.R2567L|GPR112_ENST00000287534.4_Missense_Mutation_p.R2525L|GPR112_ENST00000370652.1_Missense_Mutation_p.R2772L|GPR112_ENST00000394141.1_Missense_Mutation_p.R2567L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2772					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCAAACTTCGAAAAGATTAT	0.318																																							uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(8314-8316)CGA>CTA		G-protein coupled receptor 112							83.0	76.0	78.0					X																	135482015		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135482015G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8315G>T	X.37:g.135482015G>T	ENSP00000377699:p.Arg2772Leu					GPR112_uc010nsb.1_Missense_Mutation_p.R2567L	p.R2772L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			21	8606	+	Acute lymphoblastic leukemia(192;0.000127)		2772			Cytoplasmic (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8315G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524639	0.85600	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.11	4.24	0.50183	GPCR, family 2-like (1);	.	.	.	.	T	0.70298	0.3208	M	0.83953	2.67	0.36238	D	0.853099	D;D	0.76494	0.999;0.971	D;D	0.83275	0.996;0.936	T	0.80384	-0.1405	9	0.87932	D	0	.	14.0883	0.64973	0.0:0.0:0.8481:0.1519	.	2567;2772	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	2772;2772;2567;2525;2567	ENSP00000377699:R2772L;ENSP00000359686:R2772L;ENSP00000416526:R2567L;ENSP00000287534:R2525L;ENSP00000377697:R2567L	ENSP00000287534:R2525L	R	+	2	0	GPR112	135309681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.343000	0.65976	1.038000	0.40049	0.544000	0.68410	CGA		0.318	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			14	24	1	0	0.000219431	0.00245	0.000246155	14	24				
GPR50	9248	broad.mit.edu	37	X	150348612	150348612	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:150348612C>A	ENST00000218316.3	+	2	626	c.557C>A	c.(556-558)cCt>cAt	p.P186H	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	186					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAACAACCCTGTCTTCACT	0.542																																							uc010ntg.1		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(556-558)CCT>CAT		G protein-coupled receptor 50							267.0	238.0	248.0					X																	150348612		2174	4256	6430	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348612C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.557C>A	X.37:g.150348612C>A	ENSP00000218316:p.Pro186His					uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.P186H	p.P186H	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	692	+	Acute lymphoblastic leukemia(192;6.56e-05)		186			Extracellular (Potential).		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.557C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.289310	0.23478	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.72394	-0.65	4.32	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.243724	0.42821	D	0.000650	T	0.59115	0.2170	L	0.34521	1.04	0.38554	D	0.949541	B;B	0.29301	0.001;0.241	B;B	0.32393	0.007;0.145	T	0.61623	-0.7025	10	0.62326	D	0.03	-6.1601	10.6549	0.45669	0.3367:0.6633:0.0:0.0	.	139;186	F5H1S3;Q13585	.;MTR1L_HUMAN	H	139;186	ENSP00000218316:P186H	ENSP00000218316:P186H	P	+	2	0	GPR50	150099270	0.705000	0.27846	0.258000	0.24420	0.476000	0.33039	3.941000	0.56607	0.754000	0.32968	-0.363000	0.07495	CCT		0.542	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		45	63	1	0	2.9001e-28	0.01441	5.17029e-28	45	63				
GABRQ	55879	broad.mit.edu	37	X	151815612	151815612	+	Silent	SNP	G	G	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chrX:151815612G>C	ENST00000370306.2	+	4	530	c.510G>C	c.(508-510)acG>acC	p.T170T		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	170					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGATGGAACGGTGCGGTACG	0.522																																							uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(508-510)ACG>ACC		gamma-aminobutyric acid (GABA) receptor, theta							171.0	122.0	138.0					X																	151815612		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151815612G>C	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.510G>C	X.37:g.151815612G>C							p.T170T	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			4	530	+	Acute lymphoblastic leukemia(192;6.56e-05)		170			Extracellular (Potential).		A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.510G>C	CCDS14707.1																																																																																				0.522	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		14	20	0	0	0	0.004007	0	14	20				
RGS1	5996	broad.mit.edu	37	1	192545941	192545942	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:192545941_192545942insT	ENST00000367459.3	+	3	322_323	c.256_257insT	c.(256-258)ctgfs	p.L86fs	RGS1_ENST00000469578.2_Frame_Shift_Ins_p.L86fs	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	86	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GTCTCAATCTCTGGAAAAACTT	0.322																																							uc001gsi.1		NA																	0					0						c.(256-258)CTGfs		regulator of G-protein signalling 1																																				SO:0001589	frameshift_variant	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192545941_192545942insT	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.257dupT	1.37:g.192545942_192545942dupT	ENSP00000356429:p.Leu86fs					RGS1_uc010pou.1_Frame_Shift_Ins_p.L86fs	p.L86fs	NM_002922	NP_002913	Q08116	RGS1_HUMAN			3	322_323	+		Breast(1374;0.188)	86			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Frame_Shift_Ins	INS	ENST00000367459.3	37	c.256_257insT	CCDS1375.2																																																																																				0.322	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		11	120	NA	NA	NA	NA	NA	11	120	---	---	---	---
SHISA4	149345	broad.mit.edu	37	1	201859666	201859667	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr1:201859666_201859667insT	ENST00000362011.6	+	3	617_618	c.330_331insT	c.(331-333)tgtfs	p.C111fs	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	111						integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						TCCTCTGTTCCTGTTGCTACCT	0.559																																							uc001gxa.2		NA																	0					0						c.(328-333)TCCTGTfs		shisa homolog 4 precursor																																				SO:0001589	frameshift_variant	149345					integral to membrane		g.chr1:201859666_201859667insT	AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.331dupT	1.37:g.201859667_201859667dupT	ENSP00000355064:p.Cys111fs						p.S110fs	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN			3	421_422	+			110_111			Cytoplasmic (Potential).		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Frame_Shift_Ins	INS	ENST00000362011.6	37	c.330_331insT	CCDS1416.1																																																																																				0.559	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149		36	518	NA	NA	NA	NA	NA	36	518	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7212995	7212997	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr10:7212995_7212997delCTC	ENST00000361972.4	-	20	2527_2529	c.2437_2439delGAG	c.(2437-2439)gagdel	p.E813del	SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	813					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGTCTCTCCTCCTCCTCC	0.596																																							uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2437-2439)GAGdel		Scm-like with four mbt domains 2																																				SO:0001651	inframe_deletion	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7212995_7212997delCTC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2437_2439delGAG	10.37:g.7213004_7213006delCTC	ENSP00000355109:p.Glu813del					SFMBT2_uc001ijn.1_In_Frame_Del_p.E813del|SFMBT2_uc010qay.1_In_Frame_Del_p.E648del	p.E813del	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			20	2528_2530	-			813					A7MD09|Q9HCF5	In_Frame_Del	DEL	ENST00000361972.4	37	c.2437_2439delGAG	CCDS31138.1																																																																																				0.596	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		7	297	NA	NA	NA	NA	NA	7	297	---	---	---	---
UBASH3B	84959	broad.mit.edu	37	11	122647758	122647759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr11:122647758_122647759insC	ENST00000284273.5	+	3	617_618	c.242_243insC	c.(241-246)ttcctgfs	p.L82fs		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	82					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GGTGACCCCTTCCTGGATGACC	0.535																																							uc001pyi.3		NA																	0				central_nervous_system(1)	1						c.(241-243)TTCfs		ubiquitin associated and SH3 domain containing,																																				SO:0001589	frameshift_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122647758_122647759insC	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.244dupC	11.37:g.122647760_122647760dupC	ENSP00000284273:p.Leu82fs						p.F81fs	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	3	602_603	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	81					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Frame_Shift_Ins	INS	ENST00000284273.5	37	c.242_243insC	CCDS31694.1																																																																																				0.535	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		8	111	NA	NA	NA	NA	NA	8	111	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29617589	29617589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr12:29617589delA	ENST00000318184.5	-	18	1975	c.1976delT	c.(1975-1977)ctafs	p.L659fs	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	659	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTCATAACTTAGTGTGTTAAA	0.453																																							uc001rix.1		NA																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1975-1977)CTAfs		ovochymase 1 precursor							143.0	144.0	144.0					12																	29617589		1965	4157	6122	SO:0001589	frameshift_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29617589delA	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1976delT	12.37:g.29617589delA	ENSP00000326708:p.Leu659fs						p.L659fs	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			18	1976	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		659			Peptidase S1 2.			Frame_Shift_Del	DEL	ENST00000318184.5	37	c.1976delT																																																																																					0.453	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		21	107	NA	NA	NA	NA	NA	21	107	---	---	---	---
C14orf39	317761	broad.mit.edu	37	14	60933712	60933712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:60933712delC	ENST00000321731.3	-	10	977	c.818delG	c.(817-819)agtfs	p.S273fs		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	273					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAATAATTGACTGCTTTGAGT	0.274																																							uc001xez.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(817-819)AGTfs		hypothetical protein LOC317761							68.0	68.0	68.0					14																	60933712		2200	4292	6492	SO:0001589	frameshift_variant	317761							g.chr14:60933712delC	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.818delG	14.37:g.60933712delC	ENSP00000324920:p.Ser273fs					C14orf39_uc010apo.2_5'UTR	p.S273fs	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	10	928	-			273					Q08AQ4	Frame_Shift_Del	DEL	ENST00000321731.3	37	c.818delG	CCDS9746.1																																																																																				0.274	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		7	22	NA	NA	NA	NA	NA	7	22	---	---	---	---
VIPAS39	63894	broad.mit.edu	37	14	77919680	77919691	+	In_Frame_Del	DEL	TCATCATCGTCA	TCATCATCGTCA	-	rs538855499|rs566440125		TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	TCATCATCGTCA	TCATCATCGTCA	-	-	TCATCATCGTCA	TCATCATCGTCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr14:77919680_77919691delTCATCATCGTCA	ENST00000553888.1	-	3	657_668	c.147_158delTGACGATGATGA	c.(145-159)gatgacgatgatgac>gac	p.49_53DDDDD>D	VIPAS39_ENST00000557658.1_In_Frame_Del_p.49_53DDDDD>D|VIPAS39_ENST00000343765.2_In_Frame_Del_p.49_53DDDDD>D|VIPAS39_ENST00000448935.2_In_Frame_Del_p.49_53DDDDD>D|VIPAS39_ENST00000556412.1_In_Frame_Del_p.75_79DDDDD>D|VIPAS39_ENST00000327028.4_In_Frame_Del_p.49_53DDDDD>D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	49					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.D52G(1)|p.D50D(1)									TCGCTCCAGGTCATCATCGTCATCATCATCCA	0.519																																							uc001xtt.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		cervix(1)|endometrium(1)	central_nervous_system(1)	1						c.(145-159)GATGACGATGATGAC>GAC		hypothetical protein LOC63894																																				SO:0001651	inframe_deletion	63894				endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding	g.chr14:77919680_77919691delTCATCATCGTCA	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.147_158delTGACGATGATGA	14.37:g.77919680_77919691delTCATCATCGTCA	ENSP00000452181:p.Asp49_Asp52del					VIPAR_uc001xtu.1_In_Frame_Del_p.49_53DDDDD>D|VIPAR_uc010tvj.1_In_Frame_Del_p.49_53DDDDD>D|VIPAR_uc001xtv.1_In_Frame_Del_p.49_53DDDDD>D	p.49_53DDDDD>D	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN			4	485_496	-			49_53					B4DPI6|O95434|Q9H7E1|Q9H9I9	In_Frame_Del	DEL	ENST00000553888.1	37	c.147_158delTGACGATGATGA	CCDS9862.1																																																																																				0.519	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		17	487	NA	NA	NA	NA	NA	17	487	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33988537	33988538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr15:33988537_33988538insG	ENST00000389232.4	+	39	6049_6050	c.5979_5980insG	c.(5980-5982)gggfs	p.G1994fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G1994fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1994	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGACAGCATTGGGGAGCTGCT	0.589																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5977-5982)ATTGGGfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33988537_33988538insG		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5983dupG	15.37:g.33988541_33988541dupG	ENSP00000373884:p.Gly1994fs					RYR3_uc010bar.2_Frame_Shift_Ins_p.I1993fs	p.I1993fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	39	6049_6050	+		all_lung(180;7.18e-09)	1993_1994			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.5979_5980insG	CCDS45210.1																																																																																				0.589	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	95	NA	NA	NA	NA	NA	9	95	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18847728	18847730	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr16:18847728_18847730delTGT	ENST00000446231.2	-	47	8141_8143	c.7729_7731delACA	c.(7729-7731)acadel	p.T2577del	SMG1_ENST00000389467.3_In_Frame_Del_p.T2577del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2577					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGCAAGCTGTGTTGCTTCTAAA	0.379																																							uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(7729-7731)ACAdel		PI-3-kinase-related kinase SMG-1																																				SO:0001651	inframe_deletion	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18847728_18847730delTGT	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7729_7731delACA	16.37:g.18847728_18847730delTGT	ENSP00000402515:p.Thr2577del					SMG1_uc010bwb.2_In_Frame_Del_p.T2437del|SMG1_uc010bwa.2_In_Frame_Del_p.T1308del	p.T2577del	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			47	8092_8094	-			2577					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	In_Frame_Del	DEL	ENST00000446231.2	37	c.7729_7731delACA	CCDS45430.1																																																																																				0.379	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		9	46	NA	NA	NA	NA	NA	9	46	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31025863	31025864	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:31025863_31025864delCC	ENST00000355537.3	+	3	2427_2428	c.2280_2281delCC	c.(2278-2283)ttccggfs	p.FR760fs		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	760					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGAAAACTTTCCGGACATCCCA	0.604																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(2278-2283)TTCCGGfs		zinc finger protein 536																																				SO:0001589	frameshift_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31025863_31025864delCC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2280_2281delCC	19.37:g.31025863_31025864delCC	ENSP00000347730:p.Phe760fs					ZNF536_uc010edd.1_Frame_Shift_Del_p.F760fs	p.F760fs	NM_014717	NP_055532	O15090	ZN536_HUMAN			3	2418_2419	+	Esophageal squamous(110;0.0834)		760_761			C2H2-type 8.		A2RU18	Frame_Shift_Del	DEL	ENST00000355537.3	37	c.2280_2281delCC	CCDS32984.1																																																																																				0.604	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		19	131	NA	NA	NA	NA	NA	19	131	---	---	---	---
PRODH2	58510	broad.mit.edu	37	19	36293929	36293929	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr19:36293929delG	ENST00000301175.3	-	9	1298	c.1281delC	c.(1279-1281)cccfs	p.P427fs		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	427					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGGCACATGGGGCCATGGC	0.602																																							uc002obx.1		NA																	0				ovary(2)	2						c.(1279-1281)CCCfs		kidney and liver proline oxidase 1							39.0	28.0	32.0					19																	36293929		2200	4297	6497	SO:0001589	frameshift_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36293929delG	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1281delC	19.37:g.36293929delG	ENSP00000301175:p.Pro427fs						p.P427fs	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1299	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		427						Frame_Shift_Del	DEL	ENST00000301175.3	37	c.1281delC	CCDS12478.1																																																																																				0.602	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		5	10	NA	NA	NA	NA	NA	5	10	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20482888	20482899	+	In_Frame_Del	DEL	GCTGCTGTTGCT	GCTGCTGTTGCT	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GCTGCTGTTGCT	GCTGCTGTTGCT	-	-	GCTGCTGTTGCT	GCTGCTGTTGCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr2:20482888_20482899delGCTGCTGTTGCT	ENST00000361078.2	-	11	1551_1562	c.1529_1540delAGCAACAGCAGC	c.(1528-1542)cagcaacagcagcca>cca	p.QQQQ510del	PUM2_ENST00000536417.1_In_Frame_Del_p.QQQQ454del|PUM2_ENST00000403432.1_In_Frame_Del_p.QQQQ510del|PUM2_ENST00000319801.5_In_Frame_Del_p.QQQQ510del|PUM2_ENST00000338086.5_In_Frame_Del_p.QQQQ510del			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	510					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGTGCTTGGCTGCTGTTGCTGCTGCTGTGG	0.476																																							uc002rds.1		NA																	0				ovary(1)	1						c.(1528-1542)CAGCAACAGCAGCCA>CCA		pumilio homolog 2																																				SO:0001651	inframe_deletion	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482888_20482899delGCTGCTGTTGCT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1529_1540delAGCAACAGCAGC	2.37:g.20482888_20482899delGCTGCTGTTGCT	ENSP00000354370:p.Gln510_Gln513del					PUM2_uc002rdt.1_In_Frame_Del_p.QQQQ510del|PUM2_uc002rdr.2_In_Frame_Del_p.QQQQ449del|PUM2_uc010yjy.1_In_Frame_Del_p.QQQQ510del|PUM2_uc002rdu.1_In_Frame_Del_p.QQQQ510del|PUM2_uc010yjz.1_In_Frame_Del_p.QQQQ449del	p.QQQQ510del	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			11	1552_1563	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		510_513					B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	In_Frame_Del	DEL	ENST00000361078.2	37	c.1529_1540delAGCAACAGCAGC																																																																																					0.476	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		7	97	NA	NA	NA	NA	NA	7	97	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25456791	25456791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:25456791delC	ENST00000278886.6	-	17	3209	c.3136delG	c.(3136-3138)gagfs	p.E1046fs	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1046					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ATTTTGGTCTCCCCCTCTTCT	0.567																																							uc002wux.1		NA																	0		p.E1046E(1)		ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3136-3138)GAGfs		ninein-like							97.0	88.0	91.0					20																	25456791		2203	4300	6503	SO:0001589	frameshift_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25456791delC		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3136delG	20.37:g.25456791delC	ENSP00000278886:p.Glu1046fs					NINL_uc010gdn.1_Intron	p.E1046fs	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			17	3210	-			1046			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Frame_Shift_Del	DEL	ENST00000278886.6	37	c.3136delG	CCDS33452.1																																																																																				0.567	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		22	98	NA	NA	NA	NA	NA	22	98	---	---	---	---
SPO11	23626	broad.mit.edu	37	20	55910890	55910890	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr20:55910890delA	ENST00000371263.3	+	8	780	c.671delA	c.(670-672)gaafs	p.E224fs	SPO11_ENST00000345868.4_Frame_Shift_Del_p.E186fs|SPO11_ENST00000371260.4_Frame_Shift_Del_p.E182fs	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	224					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TTAATTGTAGAAAAAGATGCA	0.308								Editing and processing nucleases																															uc002xye.2		NA																	0				breast(2)|skin(1)	3						c.(670-672)GAAfs	Editing_and_processing_nucleases	meiotic recombination protein SPO11 isoform a							73.0	74.0	74.0					20																	55910890		2203	4298	6501	SO:0001589	frameshift_variant	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55910890delA	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.671delA	20.37:g.55910890delA	ENSP00000360310:p.Glu224fs					SPO11_uc002xyf.2_Frame_Shift_Del_p.E186fs	p.E224fs	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		8	764	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		224					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Frame_Shift_Del	DEL	ENST00000371263.3	37	c.671delA	CCDS13456.1																																																																																				0.308	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		12	48	NA	NA	NA	NA	NA	12	48	---	---	---	---
ADSL	158	broad.mit.edu	37	22	40745905	40745905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr22:40745905delA	ENST00000216194.7	+	2	279	c.223delA	c.(223-225)aagfs	p.K75fs	ADSL_ENST00000342312.6_Frame_Shift_Del_p.K75fs|ADSL_ENST00000454266.2_Frame_Shift_Del_p.K75fs	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	75					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CATCGACTTCAAGATGGCAGC	0.428																																					Colon(4;65 130 1097 1516)	Colon(4;65 130 1097 1516)	uc003ayp.3		NA																	0				ovary(1)	1						c.(223-225)AAGfs		adenylosuccinate lyase isoform a							128.0	100.0	109.0					22																	40745905		2203	4300	6503	SO:0001589	frameshift_variant	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40745905delA	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.223delA	22.37:g.40745905delA	ENSP00000216194:p.Lys75fs					ADSL_uc003ays.3_Frame_Shift_Del_p.K75fs|ADSL_uc003ayq.3_Frame_Shift_Del_p.K75fs|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Frame_Shift_Del_p.K75fs	p.K75fs	NM_000026	NP_000017	P30566	PUR8_HUMAN			2	282	+			75					B0QY76|O75495|Q5TI34	Frame_Shift_Del	DEL	ENST00000216194.7	37	c.223delA	CCDS14001.1																																																																																				0.428	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		15	53	NA	NA	NA	NA	NA	15	53	---	---	---	---
DGKQ	1609	broad.mit.edu	37	4	960278	960279	+	Frame_Shift_Ins	INS	-	-	A			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:960278_960279insA	ENST00000273814.3	-	12	1476_1477	c.1403_1404insT	c.(1402-1404)ctgfs	p.L468fs	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	468	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTAGCCGGTCCAGCAGGGGCTG	0.688																																					Esophageal Squamous(17;537 645 4447 26373)	Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2		NA																	0				kidney(1)	1						c.(1402-1404)CTGfs		diacylglycerol kinase, theta																																				SO:0001589	frameshift_variant	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:960278_960279insA	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1404dupT	4.37:g.960279_960279dupA	ENSP00000273814:p.Leu468fs					DGKQ_uc010ibn.2_Frame_Shift_Ins_p.L468fs	p.L468fs	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		12	1477_1478	-			468			Ras-associating.		Q6P3W4	Frame_Shift_Ins	INS	ENST00000273814.3	37	c.1403_1404insT	CCDS3342.1																																																																																				0.688	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			14	79	NA	NA	NA	NA	NA	14	79	---	---	---	---
ATOH1	474	broad.mit.edu	37	4	94750174	94750174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr4:94750174delC	ENST00000306011.3	+	1	133	c.97delC	c.(97-99)ccgfs	p.P35fs		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	35	Poly-Pro.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GCAACCGCCGCCGCCGCCGCA	0.667																																							uc003hta.1		NA																	0					0						c.(97-99)CCGfs		atonal homolog 1							22.0	25.0	24.0					4																	94750174		2180	4281	6461	SO:0001589	frameshift_variant	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750174delC	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.97delC	4.37:g.94750174delC	ENSP00000302216:p.Pro35fs						p.P33fs	NM_005172	NP_005163	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	97	+		Hepatocellular(203;0.114)	33			Poly-Pro.		Q14CT9	Frame_Shift_Del	DEL	ENST00000306011.3	37	c.97delC	CCDS3638.1																																																																																				0.667	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		9	39	NA	NA	NA	NA	NA	9	39	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747127	19747127	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:19747127delC	ENST00000507958.1	-	6	1437	c.447delG	c.(445-447)gtgfs	p.V149fs	CDH18_ENST00000511273.1_Frame_Shift_Del_p.V149fs|CDH18_ENST00000382275.1_Frame_Shift_Del_p.V149fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.V149fs|CDH18_ENST00000506372.1_Frame_Shift_Del_p.V149fs|CDH18_ENST00000502796.1_Frame_Shift_Del_p.V149fs			Q13634	CAD18_HUMAN	cadherin 18, type 2	149	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGATGTCTTGCACTTTGATGA	0.398																																							uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(445-447)GTGfs		cadherin 18, type 2 preproprotein							184.0	172.0	176.0					5																	19747127		2203	4300	6503	SO:0001589	frameshift_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747127delC	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.447delG	5.37:g.19747127delC	ENSP00000425093:p.Val149fs					CDH18_uc003jgd.2_Frame_Shift_Del_p.V149fs|CDH18_uc011cnm.1_Frame_Shift_Del_p.V149fs	p.V149fs	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	824	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		149			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Frame_Shift_Del	DEL	ENST00000507958.1	37	c.447delG	CCDS3889.1																																																																																				0.398	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		54	107	NA	NA	NA	NA	NA	54	107	---	---	---	---
HMGCS1	3157	broad.mit.edu	37	5	43297103	43297103	+	Splice_Site	DEL	C	C	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr5:43297103delC	ENST00000325110.6	-	5	946		c.e5+1		HMGCS1_ENST00000433297.2_Splice_Site	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)						brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GTAAAACTTACCTTTCTGCCA	0.418																																							uc003jnr.3		NA																	0					0						c.e5+1		hydroxymethylglutaryl-CoA synthase 1							144.0	144.0	144.0					5																	43297103		2203	4300	6503	SO:0001630	splice_region_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43297103delC		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.739+1G>-	5.37:g.43297103delC						HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Splice_Site_p.E247_splice	p.E247_splice	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN			5	946	-								B2RDL8	Splice_Site	DEL	ENST00000325110.6	37	c.739_splice	CCDS34154.1																																																																																				0.418	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1		Intron	20	185	NA	NA	NA	NA	NA	20	185	---	---	---	---
OR11A1	26531	broad.mit.edu	37	6	29394923	29394923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:29394923delG	ENST00000377149.1	-	5	968	c.496delC	c.(496-498)cagfs	p.Q166fs	OR11A1_ENST00000377148.1_Frame_Shift_Del_p.Q166fs|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Frame_Shift_Del_p.Q166fs			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AACCTCAGCTGGGCCACCAGG	0.577																																							uc003nmg.2		NA																	0				ovary(1)	1						c.(496-498)CAGfs		olfactory receptor, family 11, subfamily A,							46.0	50.0	49.0					6																	29394923		1509	2709	4218	SO:0001589	frameshift_variant	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394923delG		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.496delC	6.37:g.29394923delG	ENSP00000366354:p.Gln166fs						p.Q166fs	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	587	-			166			Extracellular (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Frame_Shift_Del	DEL	ENST00000377149.1	37	c.496delC	CCDS34363.1																																																																																				0.577	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			13	50	NA	NA	NA	NA	NA	13	50	---	---	---	---
MRAP2	112609	broad.mit.edu	37	6	84772665	84772665	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr6:84772665delT	ENST00000257776.4	+	3	316	c.181delT	c.(181-183)tttfs	p.F62fs		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	62				F -> I (in Ref. 1; BAC03517). {ECO:0000305}.	energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GATTTTTATGTTTTTTGTGCT	0.408																																							uc003pkg.3		NA																	0				skin(2)	2						c.(181-183)TTTfs		melanocortin 2 receptor accessory protein 2							259.0	230.0	240.0					6																	84772665		2203	4300	6503	SO:0001589	frameshift_variant	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84772665delT	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.181delT	6.37:g.84772665delT	ENSP00000257776:p.Phe62fs					MRAP2_uc010kbo.2_Intron	p.F61fs	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN			3	371	+			61					A8K9M1|Q8IXM9|Q8N2D1	Frame_Shift_Del	DEL	ENST00000257776.4	37	c.181delT	CCDS5001.1																																																																																				0.408	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		23	70	NA	NA	NA	NA	NA	23	70	---	---	---	---
DBH	1621	broad.mit.edu	37	9	136517382	136517384	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-69-7765-01A-11D-2167-08	TCGA-69-7765-10A-01D-2167-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0ba008c9-dc81-4721-92b2-793b2cef0ae6	2ba9f976-7e53-4ad6-b833-9f2b78225272	g.chr9:136517382_136517384delGAA	ENST00000393056.2	+	8	1362_1364	c.1350_1352delGAA	c.(1348-1353)ttgaag>ttg	p.K452del	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	452					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TCCGCATGTTGAAGAAGGTCGTG	0.665																																							uc004cel.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1348-1353)TTGAAG>TTG		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)																																			SO:0001651	inframe_deletion	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136517382_136517384delGAA	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1350_1352delGAA	9.37:g.136517385_136517387delGAA	ENSP00000376776:p.Lys452del						p.K452del	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	8	1359_1361	+			452			Intragranular (Potential).		Q5T381|Q96AG2	In_Frame_Del	DEL	ENST00000393056.2	37	c.1350_1352delGAA	CCDS6977.2																																																																																				0.665	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		7	203	NA	NA	NA	NA	NA	7	203	---	---	---	---
