#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLEKHM2	23207	broad.mit.edu	37	1	16051962	16051962	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:16051962T>C	ENST00000375799.3	+	8	1090	c.863T>C	c.(862-864)gTg>gCg	p.V288A	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.V268A	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	288	Interaction with KIF5B.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCACCCCCGTGCACACCACC	0.672																																						uc010obo.1		NA																	0				ovary(1)	1						c.(862-864)GTG>GCG		pleckstrin homology domain containing, family M							23.0	29.0	27.0					1																	16051962		1995	4141	6136	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16051962T>C	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.863T>C	1.37:g.16051962T>C	ENSP00000364956:p.Val288Ala						p.V288A	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	8	1090	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	288			Interaction with KIF5B.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.863T>C	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.561148	0.86335	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.67345	-0.03;-0.26	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.72750	-0.4199	10	0.37606	T	0.19	-21.8544	15.3299	0.74200	0.0:0.0:0.0:1.0	.	288	Q8IWE5	PKHM2_HUMAN	A	288;268	ENSP00000364956:V288A;ENSP00000364950:V268A	ENSP00000364950:V268A	V	+	2	0	PLEKHM2	15924549	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.152000	0.50677	2.025000	0.59659	0.454000	0.30748	GTG		0.672	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		2	5	0	0	0	0	2	5				
RAP1GAP	5909	broad.mit.edu	37	1	21940122	21940122	+	Splice_Site	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:21940122T>A	ENST00000374765.4	-	9	673	c.473A>T	c.(472-474)aAg>aTg	p.K158M	RAP1GAP_ENST00000374761.2_Splice_Site_p.K189M|RAP1GAP_ENST00000542643.2_Splice_Site_p.K158M|RAP1GAP_ENST00000290101.4_Splice_Site_p.K222M|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Splice_Site_p.K158M	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	158					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGACCTCACCTTTGCCATCTG	0.597																																						uc001bex.2		NA																	0				breast(2)|ovary(1)	3						c.(472-474)AAG>ATG		RAP1 GTPase activating protein isoform c							129.0	118.0	122.0					1																	21940122		2203	4300	6503	SO:0001630	splice_region_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21940122T>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.474+1A>T	1.37:g.21940122T>A						RAP1GAP_uc001bev.2_Missense_Mutation_p.K158M|RAP1GAP_uc001bew.2_Missense_Mutation_p.K222M|RAP1GAP_uc001bey.2_Missense_Mutation_p.K158M	p.K158M	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	9	731	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	158					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.473A>T	CCDS218.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.555960	0.86231	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758;ENST00000359708;ENST00000374757	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	4.67	4.67	0.58626	.	0.108661	0.64402	D	0.000008	D	0.96494	0.8856	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	0.999;0.995;1.0;0.997	D;P;D;P	0.72075	0.953;0.765;0.976;0.842	D	0.96771	0.9568	10	0.87932	D	0	-27.7019	10.8295	0.46652	0.0:0.0:0.0:1.0	.	158;158;189;158	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	M	222;189;158;158;189;158;222;300	ENSP00000290101:K222M;ENSP00000363893:K189M;ENSP00000441661:K158M;ENSP00000363897:K158M;ENSP00000352739:K222M	ENSP00000290101:K222M	K	-	2	0	RAP1GAP	21812709	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.212000	0.77941	1.891000	0.54761	0.459000	0.35465	AAG		0.597	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885	Missense_Mutation	27	102	0	0	0	0	27	102				
NRD1	4898	broad.mit.edu	37	1	52305985	52305985	+	Silent	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:52305985T>C	ENST00000354831.7	-	2	732	c.543A>G	c.(541-543)gaA>gaG	p.E181E	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.E181E|NRD1_ENST00000544028.1_Silent_p.E49E|NRD1_ENST00000539524.1_Silent_p.E49E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						catcatcatgttcatcatcaa	0.373																																						uc001ctc.3		NA																	0					0						c.(541-543)GAA>GAG		nardilysin isoform a							244.0	203.0	216.0					1																	52305985		2202	4300	6502	SO:0001819	synonymous_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52305985T>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.543A>G	1.37:g.52305985T>C						NRD1_uc009vzb.2_5'UTR|NRD1_uc001ctd.3_Silent_p.E181E|NRD1_uc001cte.2_Silent_p.E49E|NRD1_uc001ctf.2_Silent_p.E181E|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.E49E|NRD1_uc001ctg.1_5'Flank	p.E181E	NM_002525	NP_002516	O43847	NRDC_HUMAN			2	865	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.543A>G	CCDS559.1																																																																																				0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		6	15	0	0	0	0	6	15				
BARHL2	343472	broad.mit.edu	37	1	91182551	91182551	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:91182551C>A	ENST00000370445.4	-	1	243	c.202G>T	c.(202-204)Gtc>Ttc	p.V68F		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	68					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TCCATGGTGACTGAGATAGGA	0.662																																					GBM(199;3561 4100 22440)	uc001dns.2		NA																	0				ovary(1)	1						c.(202-204)GTC>TTC		BarH-like homeobox 2							48.0	55.0	52.0					1																	91182551		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91182551C>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.202G>T	1.37:g.91182551C>A	ENSP00000359474:p.Val68Phe						p.V68F	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	244	-		all_lung(203;0.0263)|Lung SC(238;0.128)	68					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.202G>T	CCDS730.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506964	0.85282	.	.	ENSG00000143032	ENST00000370445	D	0.91521	-2.86	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.83760	0.0214	10	0.09843	T	0.71	.	18.8994	0.92435	0.0:1.0:0.0:0.0	.	68	Q9NY43	BARH2_HUMAN	F	68	ENSP00000359474:V68F	ENSP00000359474:V68F	V	-	1	0	BARHL2	90955139	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	6.885000	0.75606	2.810000	0.96702	0.650000	0.86243	GTC		0.662	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			5	52	1	0	0.000602214	0.00105165	5	52				
ZNF644	84146	broad.mit.edu	37	1	91404033	91404033	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:91404033G>A	ENST00000370440.1	-	3	3095	c.2878C>T	c.(2878-2880)Ctt>Ttt	p.L960F	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.L960F|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	960					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCTTCTCAAGAGACAAATCA	0.398																																						uc001dnw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2878-2880)CTT>TTT		zinc finger protein 644 isoform 1							73.0	65.0	68.0					1																	91404033		2203	4299	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404033G>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2878C>T	1.37:g.91404033G>A	ENSP00000359469:p.Leu960Phe					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.L960F	p.L960F	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	3020	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	960					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.2878C>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294689	0.60086	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00606	6.26;6.26	5.84	5.84	0.93424	.	0.096803	0.56097	D	0.000027	T	0.00906	0.0030	L	0.34521	1.04	0.50632	D	0.999887	D	0.67145	0.996	D	0.71656	0.974	D	0.87284	0.2294	10	0.30078	T	0.28	-10.7146	20.1466	0.98079	0.0:0.0:1.0:0.0	.	960	Q9H582	ZN644_HUMAN	F	960;960;532	ENSP00000359469:L960F;ENSP00000337008:L960F	ENSP00000337008:L960F	L	-	1	0	ZNF644	91176621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.588000	0.60999	2.779000	0.95612	0.591000	0.81541	CTT		0.398	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		13	47	0	0	0	0	13	47				
AMY2B	280	broad.mit.edu	37	1	104115830	104115830	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:104115830G>C	ENST00000361355.4	+	5	1077	c.461G>C	c.(460-462)gGt>gCt	p.G154A	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	154					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTTAATGATGGTAAATGTAAA	0.408																																						uc001duq.2		NA																	0					0						c.(460-462)GGT>GCT		amylase, pancreatic, alpha-2B precursor							206.0	220.0	215.0					1																	104115830		2203	4295	6498	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115830G>C	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.461G>C	1.37:g.104115830G>C	ENSP00000354610:p.Gly154Ala					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.G154A|AMY2B_uc001dus.1_5'Flank	p.G154A	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	5	1077	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	154					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.461G>C	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006987	0.35415	.	.	ENSG00000240038	ENST00000361355	D	0.98296	-4.85	4.58	3.67	0.42095	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.330338	0.34435	N	0.003978	D	0.93255	0.7851	L	0.50993	1.605	0.35380	D	0.789872	B	0.02656	0.0	B	0.04013	0.001	D	0.90450	0.4438	10	0.56958	D	0.05	.	6.5161	0.22248	0.1628:0.1488:0.6885:0.0	.	154	P19961	AMY2B_HUMAN	A	154	ENSP00000354610:G154A	ENSP00000354610:G154A	G	+	2	0	AMY2B	103917353	0.509000	0.26163	0.992000	0.48379	0.973000	0.67179	0.931000	0.28871	0.928000	0.37168	0.644000	0.83932	GGT		0.408	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		64	542	0	0	0	0	64	542				
GJA8	2703	broad.mit.edu	37	1	147381094	147381095	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:147381094_147381095GC>AA	ENST00000369235.1	+	1	1012_1013	c.1012_1013GC>AA	c.(1012-1014)GCa>AAa	p.A338K	GJA8_ENST00000240986.4_Missense_Mutation_p.A338K			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	338					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGGCCGCCTGCAGAGGAGGGA	0.653																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(1012-1014)GCA>AAA		connexin 50																																				SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381094_147381095GC>AA	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	Exception_encountered	1.37:g.147381094_147381095delinsAA	ENSP00000358238:p.Ala338Lys						p.A338K	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	1075_1076	+	all_hematologic(923;0.0276)		338			Cytoplasmic (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	DNP	ENST00000369235.1	37	c.1012_1013GC>AA	CCDS30834.1																																																																																				0.653	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		4	5	0	0	0	0	4	5				
IQGAP3	128239	broad.mit.edu	37	1	156518471	156518471	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:156518471A>T	ENST00000361170.2	-	17	1905	c.1895T>A	c.(1894-1896)tTg>tAg	p.L632*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	632					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGTTCCTCAACACCCGCTC	0.597																																						uc001fpf.2		NA																	0				ovary(5)|skin(1)	6						c.(1894-1896)TTG>TAG		IQ motif containing GTPase activating protein 3							82.0	73.0	76.0					1																	156518471		2203	4300	6503	SO:0001587	stop_gained	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156518471A>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1895T>A	1.37:g.156518471A>T	ENSP00000354451:p.Leu632*						p.L632*	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			17	1970	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		632					Q5T3H8	Nonsense_Mutation	SNP	ENST00000361170.2	37	c.1895T>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	A	40	8.097895	0.98651	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8717	12.9877	0.58602	1.0:0.0:0.0:0.0	.	.	.	.	X	632	.	ENSP00000354451:L632X	L	-	2	0	IQGAP3	154785095	0.985000	0.35326	0.982000	0.44146	0.984000	0.73092	9.196000	0.94978	1.756000	0.51951	0.459000	0.35465	TTG		0.597	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		11	48	0	0	0	0	11	48				
CFAP45	25790	broad.mit.edu	37	1	159842919	159842919	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:159842919C>T	ENST00000368099.4	-	11	1456	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	CCDC19_ENST00000476696.1_5'UTR|RP11-190A12.7_ENST00000544342.1_5'Flank|CCDC19_ENST00000426543.2_Silent_p.E379E	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCTTTTTCTCCTCCTCCAGCC	0.587																																						uc001fui.2		NA																	0				ovary(1)	1						c.(1390-1392)GAG>GAA		nasopharyngeal epithelium specific protein 1							51.0	49.0	50.0					1																	159842919		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159842919C>T																												ENST00000368099.4:c.1392G>A	1.37:g.159842919C>T						CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.E379E|CCDC19_uc001ful.2_Silent_p.E379E	p.E464E	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		11	1410	-	all_hematologic(112;0.0597)		464			Potential.			Silent	SNP	ENST00000368099.4	37	c.1392G>A	CCDS30914.1																																																																																				0.587	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			16	31	0	0	0	0	16	31				
RABIF	5877	broad.mit.edu	37	1	202850116	202850116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:202850116G>A	ENST00000367262.3	-	2	398	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	121					membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTACTCATGGGAAACTCGTTC	0.478																																						uc001gyl.2		NA																	0					0						c.(361-363)TCC>TTC		RAB-interacting factor							113.0	101.0	105.0					1																	202850116		2203	4300	6503	SO:0001583	missense	5877				cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:202850116G>A	S78873	CCDS1428.1	1q32.1	2008-05-14			ENSG00000183155	ENSG00000183155			9797	protein-coding gene	gene with protein product		603417		RASGRF3		9441742, 7619808	Standard	NM_002871		Approved	mss4	uc001gyl.3	P47224	OTTHUMG00000041400	ENST00000367262.3:c.362C>T	1.37:g.202850116G>A	ENSP00000356231:p.Ser121Phe						p.S121F	NM_002871	NP_002862	P47224	MSS4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		2	399	-			121					B2R4P4|Q92992	Missense_Mutation	SNP	ENST00000367262.3	37	c.362C>T	CCDS1428.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860677	0.71834	.	.	ENSG00000183155	ENST00000367262	.	.	.	5.81	5.81	0.92471	Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.316073	0.38663	N	0.001619	T	0.59715	0.2214	L	0.43152	1.355	0.37918	D	0.931595	D	0.67145	0.996	P	0.50405	0.64	T	0.65257	-0.6212	9	0.56958	D	0.05	-53.186	15.2087	0.73202	0.0:0.1403:0.8597:0.0	.	121	P47224	MSS4_HUMAN	F	121	.	ENSP00000356231:S121F	S	-	2	0	RABIF	201116739	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.472000	0.60189	2.760000	0.94817	0.561000	0.74099	TCC		0.478	RABIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099183.1			18	81	0	0	0	0	18	81				
KMO	8564	broad.mit.edu	37	1	241729888	241729888	+	Missense_Mutation	SNP	C	C	T	rs531693759	byFrequency	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:241729888C>T	ENST00000366559.4	+	9	1096	c.785C>T	c.(784-786)cCg>cTg	p.P262L	KMO_ENST00000366557.4_Missense_Mutation_p.P262L|KMO_ENST00000366558.3_Missense_Mutation_p.P262L	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAATACTTTCCGGATGCCATC	0.353													C|||	6	0.00119808	0.0	0.0	5008	,	,		21604	0.0		0.0	False		,,,				2504	0.0061					uc009xgp.2		NA																	0				ovary(2)	2						c.(784-786)CCG>CTG		kynurenine 3-monooxygenase							104.0	103.0	103.0					1																	241729888		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241729888C>T	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.785C>T	1.37:g.241729888C>T	ENSP00000355517:p.Pro262Leu					KMO_uc001hyy.2_Missense_Mutation_p.P262L|KMO_uc009xgo.1_Missense_Mutation_p.P262L	p.P262L	NM_003679	NP_003670	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		9	850	+	Ovarian(103;0.103)|all_lung(81;0.23)		262						Missense_Mutation	SNP	ENST00000366559.4	37	c.785C>T	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476979	0.84640	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.50813	0.73;0.73;0.73	5.92	4.02	0.46733	Monooxygenase, FAD-binding (1);	0.094116	0.85682	N	0.000000	T	0.73337	0.3574	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.70016	0.944;0.967;0.908	T	0.76916	-0.2782	10	0.87932	D	0	.	9.0305	0.36256	0.1481:0.7749:0.0:0.077	.	262;262;262	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	L	262	ENSP00000355517:P262L;ENSP00000355516:P262L;ENSP00000355515:P262L	ENSP00000355515:P262L	P	+	2	0	KMO	239796511	0.983000	0.35010	0.931000	0.37212	0.985000	0.73830	2.663000	0.46774	0.815000	0.34398	0.650000	0.86243	CCG		0.353	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		10	69	0	0	0	0	10	69				
OR2M3	127062	broad.mit.edu	37	1	248366497	248366497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr1:248366497C>G	ENST00000456743.1	+	1	166	c.128C>G	c.(127-129)tCt>tGt	p.S43C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	43						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)			ATGGGAAACTCTGTCATGGTT	0.547																																						uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(127-129)TCT>TGT		olfactory receptor, family 2, subfamily M,							245.0	239.0	241.0					1																	248366497		2203	4297	6500	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366497C>G		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.128C>G	1.37:g.248366497C>G	ENSP00000389625:p.Ser43Cys						p.S43C	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	128	+	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).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.128C>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385694	0.25031	.	.	ENSG00000228198	ENST00000456743	T	0.03242	4.0	2.43	-0.78	0.10969	GPCR, rhodopsin-like superfamily (1);	1.407060	0.05471	U	0.553000	T	0.04543	0.0124	L	0.37850	1.14	0.09310	N	1	P	0.40250	0.709	B	0.42882	0.401	T	0.40308	-0.9570	10	0.49607	T	0.09	.	4.4515	0.11623	0.0:0.2338:0.1885:0.5778	.	43	Q8NG83	OR2M3_HUMAN	C	43	ENSP00000389625:S43C	ENSP00000389625:S43C	S	+	2	0	OR2M3	246433120	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.078000	0.01370	-0.032000	0.13758	-0.507000	0.04495	TCT		0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		80	210	0	0	0	0	80	210				
FBXO18	84893	broad.mit.edu	37	10	5948284	5948284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:5948284C>T	ENST00000362091.4	+	3	557	c.442C>T	c.(442-444)Cca>Tca	p.P148S	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.P199S|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	148	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TAAGAAAGCTCCACGGCACCA	0.597																																						uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(442-444)CCA>TCA		F-box only protein, helicase, 18 isoform 2							38.0	41.0	40.0					10																	5948284		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948284C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.442C>T	10.37:g.5948284C>T	ENSP00000355415:p.Pro148Ser					FBXO18_uc001iir.2_Missense_Mutation_p.P74S|FBXO18_uc009xig.2_Missense_Mutation_p.P74S|FBXO18_uc001iit.2_Missense_Mutation_p.P199S	p.P148S	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			3	537	+			148			F-box.		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.442C>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	6.456	0.452322	0.12283	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.76	1.82	0.25136	.	0.768191	0.12773	N	0.440352	T	0.30355	0.0762	L	0.56769	1.78	0.09310	N	0.999993	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.40440	-0.9563	9	0.02654	T	1	-0.0889	5.1748	0.15129	0.0:0.4849:0.2802:0.2349	.	199;148;74	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	S	148;199	.	ENSP00000355415:P148S	P	+	1	0	FBXO18	5988290	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.221000	0.17680	0.074000	0.16767	0.655000	0.94253	CCA		0.597	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		5	35	0	0	0	0	5	35				
ITGA8	8516	broad.mit.edu	37	10	15760779	15760779	+	Missense_Mutation	SNP	G	G	T	rs568742134		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:15760779G>T	ENST00000378076.3	-	2	682	c.329C>A	c.(328-330)cCg>cAg	p.P110Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	110					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						GGTGTCAAACGGTATCTGCCT	0.597																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(328-330)CCG>CAG		integrin, alpha 8 precursor							139.0	122.0	128.0					10																	15760779		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.chr10:15760779G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.329C>A	10.37:g.15760779G>T	ENSP00000367316:p.Pro110Gln					ITGA8_uc010qcb.1_Missense_Mutation_p.P110Q	p.P110Q	NM_003638	NP_003629	P53708	ITA8_HUMAN			2	329	-			110			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.329C>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260754	0.59431	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.21734	1.99	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05869	-1.0859	10	0.15066	T	0.55	.	18.029	0.89277	0.0:0.0:1.0:0.0	.	110;110	F5H818;P53708	.;ITA8_HUMAN	Q	110	ENSP00000367316:P110Q	ENSP00000367316:P110Q	P	-	2	0	ITGA8	15800785	1.000000	0.71417	0.755000	0.31263	0.948000	0.59901	9.176000	0.94839	2.492000	0.84095	0.561000	0.74099	CCG		0.597	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		36	78	1	0	4.32e-19	9.08e-19	36	78				
CUBN	8029	broad.mit.edu	37	10	16918894	16918894	+	Splice_Site	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:16918894A>T	ENST00000377833.4	-	57	9172		c.e57+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGCTACTCACAGATTATCC	0.418																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.e57+1		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						50.0	51.0	51.0					10																	16918894		2203	4300	6503	SO:0001630	splice_region_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16918894A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9106+1T>A	10.37:g.16918894A>T						CUBN_uc009xjq.1_Splice_Site|CUBN_uc009xjr.1_Splice_Site_p.S392_splice	p.S3036_splice	NM_001081	NP_001072	O60494	CUBN_HUMAN			57	9158	-								B0YIZ4|Q5VTA6|Q96RU9	Splice_Site	SNP	ENST00000377833.4	37	c.9106_splice	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153609	0.38021	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0134	0.71565	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	16958900	1.000000	0.71417	0.996000	0.52242	0.087000	0.18053	6.587000	0.74071	2.180000	0.69256	0.533000	0.62120	.		0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Intron	10	53	0	0	0	0	10	53				
ZNF365	22891	broad.mit.edu	37	10	64159517	64159517	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:64159517A>G	ENST00000395254.3	+	5	1473	c.1193A>G	c.(1192-1194)aAa>aGa	p.K398R	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										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)					ATGGCTAAAAAAAAGCCAACA	0.517																																						uc001jly.3		NA																	0				ovary(1)|skin(1)	2						c.(1237-1239)AAA>AGA		zinc finger protein 365 isoform A							43.0	42.0	42.0					10																	64159517		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64159517A>G	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.1193A>G	10.37:g.64159517A>G	ENSP00000378674:p.Lys398Arg					ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Missense_Mutation_p.K398R|ZNF365_uc001jma.3_RNA	p.K413R	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN			5	1300	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		Error:Variant_position_missing_in_Q70YC4_after_alignment						Missense_Mutation	SNP	ENST00000395254.3	37	c.1238A>G	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.689155	0.88735	.	.	ENSG00000138311	ENST00000395254	T	0.57907	0.37	5.96	5.96	0.96718	.	.	.	.	.	T	0.69806	0.3152	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.72643	-0.4231	9	0.87932	D	0	.	14.6783	0.68998	1.0:0.0:0.0:0.0	.	398;413	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	R	398	ENSP00000378674:K398R	ENSP00000378674:K398R	K	+	2	0	ZNF365	63829523	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.247000	0.58750	2.285000	0.76669	0.533000	0.62120	AAA		0.517	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		9	35	0	0	0	0	9	35				
TBC1D12	23232	broad.mit.edu	37	10	96162460	96162460	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:96162460G>A	ENST00000225235.4	+	1	200	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	30							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCCAGGACAGGAAGGTAATCC	0.706																																						uc001kjr.2		NA																	0					0						c.(88-90)AGG>AGA		TBC1 domain family, member 12							6.0	9.0	8.0					10																	96162460		1859	3996	5855	SO:0001819	synonymous_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96162460G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.90G>A	10.37:g.96162460G>A							p.R30R	NM_015188	NP_056003	O60347	TBC12_HUMAN			1	275	+		Colorectal(252;0.0429)	30					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	c.90G>A	CCDS41553.1																																																																																				0.706	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			3	5	0	0	0	0	3	5				
GLRX3	10539	broad.mit.edu	37	10	131973264	131973264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:131973264C>T	ENST00000368644.1	+	10	890	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	GLRX3_ENST00000331244.5_Missense_Mutation_p.R290W	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	290	Glutaredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TCTTTAGGTTCGGCAAGGATT	0.428																																						uc001lkm.1		NA																	0					0						c.(868-870)CGG>TGG		glutaredoxin 3							201.0	187.0	191.0					10																	131973264		2203	4300	6503	SO:0001583	missense	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131973264C>T	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.868C>T	10.37:g.131973264C>T	ENSP00000357633:p.Arg290Trp					GLRX3_uc001lkn.1_Missense_Mutation_p.R290W|GLRX3_uc001lko.2_RNA	p.R290W	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	10	890	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	290			Glutaredoxin 2.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	c.868C>T	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357414	0.61293	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.39787	1.06;1.06	4.07	4.07	0.47477	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000002	T	0.77519	0.4142	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86981	0.2104	10	0.87932	D	0	-8.2	15.0006	0.71469	0.0:1.0:0.0:0.0	.	290	O76003	GLRX3_HUMAN	W	290	ENSP00000330836:R290W;ENSP00000357633:R290W	ENSP00000330836:R290W	R	+	1	2	GLRX3	131863254	0.986000	0.35501	1.000000	0.80357	0.838000	0.47535	2.666000	0.46799	2.113000	0.64589	0.561000	0.74099	CGG		0.428	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		10	53	0	0	0	0	10	53				
DPYSL4	10570	broad.mit.edu	37	10	134014379	134014379	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr10:134014379C>T	ENST00000338492.4	+	10	1166	c.1002C>T	c.(1000-1002)tgC>tgT	p.C334C	DPYSL4_ENST00000368627.1_Silent_p.C234C|DPYSL4_ENST00000368629.1_Silent_p.C234C	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	334					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCGCCCACTGCACCTTCACCA	0.647																																						uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(1000-1002)TGC>TGT		dihydropyrimidinase-like 4							78.0	60.0	66.0					10																	134014379		2201	4300	6501	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134014379C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1002C>T	10.37:g.134014379C>T							p.C334C	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	10	1156	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	334					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.1002C>T	CCDS7665.1																																																																																				0.647	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			6	15	0	0	0	0	6	15				
OR5A2	219981	broad.mit.edu	37	11	59190241	59190241	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:59190241G>A	ENST00000302040.4	-	1	208	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	62						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)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGAGGAAGAAGTACATGG	0.493																																						uc010rkt.1		NA																	0					0						c.(184-186)TTC>TTT		olfactory receptor, family 5, subfamily A,							145.0	121.0	129.0					11																	59190241		2201	4295	6496	SO:0001819	synonymous_variant	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190241G>A	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.186C>T	11.37:g.59190241G>A							p.F62F	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	186	-			62			Helical; Name=2; (Potential).		B9EH21|Q6IFF4|Q96RB0	Silent	SNP	ENST00000302040.4	37	c.186C>T	CCDS31560.1																																																																																				0.493	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		21	70	0	0	0	0	21	70				
OR5A1	219982	broad.mit.edu	37	11	59211053	59211053	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:59211053A>G	ENST00000302030.2	+	1	437	c.412A>G	c.(412-414)Atc>Gtc	p.I138V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	138						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(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTACCCCACTATCATGACCCA	0.542																																						uc001nnx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(412-414)ATC>GTC		olfactory receptor, family 5, subfamily A,							263.0	244.0	251.0					11																	59211053		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211053A>G	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.412A>G	11.37:g.59211053A>G	ENSP00000303096:p.Ile138Val						p.I138V	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	412	+			138			Cytoplasmic (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.412A>G	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	A	6.931	0.541553	0.13250	.	.	ENSG00000172320	ENST00000302030	T	0.02050	4.48	5.98	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	0.506006	0.18227	N	0.147697	T	0.01387	0.0045	L	0.28694	0.88	0.19300	N	0.999973	B	0.02656	0.0	B	0.06405	0.002	T	0.47142	-0.9140	10	0.18276	T	0.48	-15.3129	2.5273	0.04694	0.2376:0.3396:0.3082:0.1146	.	138	Q8NGJ0	OR5A1_HUMAN	V	138	ENSP00000303096:I138V	ENSP00000303096:I138V	I	+	1	0	OR5A1	58967629	0.000000	0.05858	0.048000	0.18961	0.598000	0.36846	-0.577000	0.05847	-0.349000	0.08274	0.528000	0.53228	ATC		0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		35	292	0	0	0	0	35	292				
NPAS4	266743	broad.mit.edu	37	11	66192686	66192686	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:66192686G>A	ENST00000311034.2	+	7	2501	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	775					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTATGATGGGTTTACTGATG	0.512																																						uc001ohx.1		NA																	0					0						c.(2323-2325)GGG>GGA		neuronal PAS domain protein 4							80.0	68.0	72.0					11																	66192686		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192686G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2325G>A	11.37:g.66192686G>A						NPAS4_uc010rpc.1_Silent_p.G565G	p.G775G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	2501	+			775					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.2325G>A	CCDS8138.1																																																																																				0.512	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		18	42	0	0	0	0	18	42				
B3GAT1	27087	broad.mit.edu	37	11	134253871	134253871	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr11:134253871C>T	ENST00000524765.1	-	3	4868	c.324G>A	c.(322-324)acG>acA	p.T108T	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Silent_p.T121T|B3GAT1_ENST00000312527.4_Silent_p.T108T|B3GAT1_ENST00000392580.1_Silent_p.T108T			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	108					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTGCAGCAGCGTGTTGGCCA	0.716																																						uc001qhq.2		NA																	0				ovary(1)	1						c.(322-324)ACG>ACA		beta-1,3-glucuronyltransferase 1							31.0	25.0	27.0					11																	134253871		2197	4294	6491	SO:0001819	synonymous_variant	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253871C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.324G>A	11.37:g.134253871C>T						B3GAT1_uc001qhr.2_Silent_p.T108T|B3GAT1_uc010scv.1_Silent_p.T121T	p.T108T	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	4	585	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	108			Lumenal (Potential).		Q96FS7	Silent	SNP	ENST00000524765.1	37	c.324G>A	CCDS8500.1																																																																																				0.716	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		10	7	0	0	0	0	10	7				
USP5	8078	broad.mit.edu	37	12	6970679	6970679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:6970679G>A	ENST00000229268.8	+	13	1623	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	USP5_ENST00000389231.5_Missense_Mutation_p.R524Q|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	524	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GAACTGGTTCGGGCCCAGGTG	0.607																																						uc001qri.3		NA																	0				lung(2)|breast(1)|skin(1)	4						c.(1570-1572)CGG>CAG		ubiquitin specific peptidase 5 isoform 1							67.0	67.0	67.0					12																	6970679		2203	4300	6503	SO:0001583	missense	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970679G>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1571G>A	12.37:g.6970679G>A	ENSP00000229268:p.Arg524Gln					USP5_uc001qrh.3_Missense_Mutation_p.R524Q	p.R524Q	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			13	1630	+			524					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.1571G>A	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	g	36	5.878823	0.97055	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.24908	1.84;1.83	5.18	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.986;0.989	T	0.64956	-0.6285	10	0.66056	D	0.02	.	18.885	0.92372	0.0:0.0:1.0:0.0	.	524;524	P45974;P45974-2	UBP5_HUMAN;.	Q	524	ENSP00000229268:R524Q;ENSP00000373883:R524Q	ENSP00000229268:R524Q	R	+	2	0	USP5	6840940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.654000	0.98509	2.696000	0.92011	0.556000	0.70494	CGG		0.607	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			51	67	0	0	0	0	51	67				
ATN1	1822	broad.mit.edu	37	12	7046365	7046365	+	Silent	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:7046365C>G	ENST00000356654.4	+	5	2172	c.1935C>G	c.(1933-1935)tcC>tcG	p.S645S	ATN1_ENST00000396684.2_Silent_p.S645S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	645					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGCCCCGTCCCCGGGGGCCT	0.672																																						uc001qrw.1		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1933-1935)TCC>TCG		atrophin-1							22.0	27.0	25.0					12																	7046365		2201	4291	6492	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046365C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1935C>G	12.37:g.7046365C>G						ATN1_uc001qrx.1_Silent_p.S645S	p.S645S	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	2172	+			645					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.1935C>G	CCDS31734.1																																																																																				0.672	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		12	47	0	0	0	0	12	47				
SLC2A14	144195	broad.mit.edu	37	12	7973851	7973851	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:7973851G>A	ENST00000543909.1	-	13	1763	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	SLC2A14_ENST00000396589.2_Missense_Mutation_p.A335V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A312V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A312V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A226V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A226V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A350V|SLC2A14_ENST00000542505.1_5'UTR			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.A335V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AACCACACCCGCGCTGATGGT	0.413																																						uc001qtk.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1003-1005)GCG>GTG		glucose transporter 14							149.0	138.0	142.0					12																	7973851		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7973851G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1004C>T	12.37:g.7973851G>A	ENSP00000440480:p.Ala335Val					SLC2A14_uc001qtl.2_Missense_Mutation_p.A312V|SLC2A14_uc001qtm.2_Missense_Mutation_p.A312V|SLC2A14_uc010sgg.1_Missense_Mutation_p.A226V|SLC2A14_uc001qtn.2_Missense_Mutation_p.A335V|SLC2A14_uc001qto.2_5'UTR|SLC2A14_uc010sgh.1_Missense_Mutation_p.A350V	p.A335V	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	13	1797	-			335			Helical; Name=8; (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.1004C>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.862866	0.00552	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	2.98	2.07	0.26955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052804	0.85682	D	0.000000	T	0.46054	0.1373	L	0.31065	0.9	0.46356	D	0.999007	B;B;B;B	0.30211	0.273;0.048;0.006;0.025	B;B;B;B	0.31390	0.129;0.082;0.011;0.019	T	0.28996	-1.0026	10	0.05959	T	0.93	.	8.158	0.31180	0.1315:0.0:0.8685:0.0	.	350;226;312;335	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	V	312;335;312;335;226;226;350	ENSP00000340450:A312V;ENSP00000440480:A335V;ENSP00000407287:A312V;ENSP00000379834:A335V;ENSP00000440492:A226V;ENSP00000443903:A226V;ENSP00000445929:A350V	ENSP00000340450:A312V	A	-	2	0	SLC2A14	7865118	1.000000	0.71417	0.030000	0.17652	0.063000	0.16089	8.788000	0.91834	0.346000	0.23899	-0.680000	0.03767	GCG		0.413	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		43	122	0	0	0	0	43	122				
SLCO1B3	28234	broad.mit.edu	37	12	21069131	21069131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:21069131G>C	ENST00000381545.3	+	16	2278	c.2059G>C	c.(2059-2061)Gat>Cat	p.D687H	SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D687H|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	687					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGCTGGAACAGATAGTAAAAC	0.348																																						uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(2059-2061)GAT>CAT		solute carrier organic anion transporter family,							98.0	97.0	97.0					12																	21069131		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21069131G>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.2059G>C	12.37:g.21069131G>C	ENSP00000370956:p.Asp687His					SLCO1B3_uc001rel.2_Missense_Mutation_p.D687H|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	p.D687H	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			15	2185	+	Esophageal squamous(101;0.149)		687			Cytoplasmic (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.2059G>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702551	0.30232	.	.	ENSG00000111700	ENST00000261196;ENST00000381545	T;T	0.38722	1.12;1.12	3.48	-1.88	0.07713	.	1.079470	0.07150	N	0.848934	T	0.38665	0.1049	L	0.43923	1.385	0.09310	N	1	P	0.40332	0.713	P	0.47044	0.535	T	0.40440	-0.9563	10	0.62326	D	0.03	.	2.91	0.05733	0.5186:0.0:0.2654:0.216	.	687	Q9NPD5	SO1B3_HUMAN	H	687	ENSP00000261196:D687H;ENSP00000370956:D687H	ENSP00000261196:D687H	D	+	1	0	SLCO1B3	20960398	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.437000	0.06914	-0.206000	0.10203	-0.397000	0.06425	GAT		0.348	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		19	34	0	0	0	0	19	34				
ABCC9	10060	broad.mit.edu	37	12	21958120	21958120	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:21958120C>A	ENST00000261201.4	-	38	4637	c.4638G>T	c.(4636-4638)atG>atT	p.M1546I	ABCC9_ENST00000345162.2_Missense_Mutation_p.M1510I|ABCC9_ENST00000261200.4_Intron	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1546	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.M1546I(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ACTTGTTGGTCATCACCAAAG	0.438																																						uc001rfi.1		NA																	1	Substitution - Missense(1)	p.R1546H(1)	lung(1)	ovary(4)|skin(2)	6						c.(4636-4638)ATG>ATT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						174.0	145.0	155.0					12																	21958120		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21958120C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4638G>T	12.37:g.21958120C>A	ENSP00000261201:p.Met1546Ile					ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.M1510I|ABCC9_uc001rfg.2_Intron	p.M1546I	NM_005691	NP_005682	O60706	ABCC9_HUMAN			38	4658	-			1546			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4638G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412331	0.62511	.	.	ENSG00000069431	ENST00000544039;ENST00000261201;ENST00000345162	D;D;D	0.91945	-2.79;-2.94;-2.92	5.96	5.08	0.68730	ABC transporter-like (1);	.	.	.	.	D	0.86356	0.5913	N	0.19112	0.55	0.33384	D	0.575189	B	0.13594	0.008	B	0.10450	0.005	D	0.86564	0.1843	9	0.87932	D	0	.	13.4726	0.61290	0.0:0.9282:0.0:0.0718	.	1546	O60706	ABCC9_HUMAN	I	1173;1546;1510	ENSP00000440521:M1173I;ENSP00000261201:M1546I;ENSP00000261202:M1510I	ENSP00000261201:M1546I	M	-	3	0	ABCC9	21849387	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.515000	0.67049	1.542000	0.49330	-0.136000	0.14681	ATG		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		25	56	1	0	4.27e-12	8.65e-12	25	56				
SLC4A8	9498	broad.mit.edu	37	12	51853842	51853842	+	Silent	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:51853842G>T	ENST00000453097.2	+	8	1180	c.963G>T	c.(961-963)ctG>ctT	p.L321L	SLC4A8_ENST00000514353.3_Silent_p.L268L|SLC4A8_ENST00000535225.2_Silent_p.L268L|SLC4A8_ENST00000358657.3_Silent_p.L348L|SLC4A8_ENST00000394856.1_Silent_p.L268L	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)		TTGTGAGGCTGTCTCCAGCTG	0.438																																						uc001rys.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(961-963)CTG>CTT		solute carrier family 4, sodium bicarbonate							211.0	208.0	209.0					12																	51853842		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51853842G>T	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.963G>T	12.37:g.51853842G>T						SLC4A8_uc010sni.1_Silent_p.L268L|SLC4A8_uc001rym.2_Silent_p.L268L|SLC4A8_uc001ryn.2_Silent_p.L268L|SLC4A8_uc001ryo.2_Silent_p.L268L|SLC4A8_uc001ryp.1_Silent_p.L268L|SLC4A8_uc010snj.1_Silent_p.L348L|SLC4A8_uc001ryq.3_Silent_p.L321L|SLC4A8_uc001ryr.2_Silent_p.L321L|SLC4A8_uc010snk.1_Silent_p.L268L	p.L321L	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	8	1141	+			321			Extracellular (Potential).			Silent	SNP	ENST00000453097.2	37	c.963G>T	CCDS44890.1																																																																																				0.438	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		36	179	1	0	6.03e-27	1.29e-26	36	179				
KRT83	3889	broad.mit.edu	37	12	52709747	52709747	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:52709747T>A	ENST00000293670.3	-	7	1254	c.1192A>T	c.(1192-1194)Atg>Ttg	p.M398L	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	398	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGAGTTCATCACCTCCTGG	0.637																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	uc001saf.2		NA																	0				skin(1)	1						c.(1192-1194)ATG>TTG		keratin 83							103.0	89.0	94.0					12																	52709747		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52709747T>A	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1192A>T	12.37:g.52709747T>A	ENSP00000293670:p.Met398Leu						p.M398L	NM_002282	NP_002273	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1255	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		398			Rod.|Coil 2.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.1192A>T	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308388	0.60305	.	.	ENSG00000170523	ENST00000293670	D	0.83419	-1.72	3.72	3.72	0.42706	Filament (1);	0.000000	0.50627	U	0.000101	T	0.71230	0.3315	N	0.21194	0.64	0.41853	D	0.990183	B	0.10296	0.003	B	0.19666	0.026	T	0.64694	-0.6347	9	.	.	.	.	12.7021	0.57038	0.0:0.0:0.0:1.0	.	398	P78385	KRT83_HUMAN	L	398	ENSP00000293670:M398L	.	M	-	1	0	KRT83	50996014	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.169000	0.71913	1.469000	0.48083	0.383000	0.25322	ATG		0.637	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		20	95	0	0	0	0	20	95				
LRP1	4035	broad.mit.edu	37	12	57532268	57532268	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:57532268T>C	ENST00000243077.3	+	2	560	c.94T>C	c.(94-96)Ttt>Ctt	p.F32L	LRP1_ENST00000553277.1_Missense_Mutation_p.F32L|LRP1_ENST00000554174.1_Missense_Mutation_p.F32L|LRP1_ENST00000338962.4_Missense_Mutation_p.F32L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	32	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCAAGCAGTTTGCCTGCAG	0.527																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(94-96)TTT>CTT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						150.0	151.0	150.0					12																	57532268		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57532268T>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.94T>C	12.37:g.57532268T>C	ENSP00000243077:p.Phe32Leu					LRP1_uc010sre.1_Missense_Mutation_p.F32L|LRP1_uc001snb.2_Missense_Mutation_p.F32L|LRP1_uc001snc.1_Missense_Mutation_p.F32L	p.F32L	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	2	560	+			32			LDL-receptor class A 1.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.94T>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	35	5.427405	0.96131	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	D	0.99296	0.9754	M	0.93898	3.47	0.53005	D	0.999968	D;D;D;D	0.76494	0.997;0.979;0.999;0.999	D;D;D;D	0.85130	0.989;0.973;0.997;0.992	D	0.98931	1.0787	10	0.87932	D	0	.	13.487	0.61371	0.0:0.0:0.0:1.0	.	32;32;32;32	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	L	32	ENSP00000451449:F32L;ENSP00000243077:F32L;ENSP00000341264:F32L;ENSP00000451737:F32L	ENSP00000243077:F32L	F	+	1	0	LRP1	55818535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.465000	0.80898	2.234000	0.73211	0.459000	0.35465	TTT		0.527	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		28	126	0	0	0	0	28	126				
NR1H4	9971	broad.mit.edu	37	12	100955674	100955674	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:100955674G>T	ENST00000551379.1	+	8	1148	c.1120G>T	c.(1120-1122)Gaa>Taa	p.E374*	NR1H4_ENST00000548884.1_Nonsense_Mutation_p.E360*|NR1H4_ENST00000392986.3_Nonsense_Mutation_p.E364*|NR1H4_ENST00000188403.7_Nonsense_Mutation_p.E370*|NR1H4_ENST00000549996.1_Nonsense_Mutation_p.E313*			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	374	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TATCTCTGATGAATATATAAC	0.333																																						uc001tht.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1120-1122)GAA>TAA		nuclear receptor subfamily 1, group H, member 4							71.0	73.0	73.0					12																	100955674		2203	4297	6500	SO:0001587	stop_gained	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100955674G>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1120G>T	12.37:g.100955674G>T	ENSP00000447149:p.Glu374*					NR1H4_uc001thp.1_Nonsense_Mutation_p.E360*|NR1H4_uc001thq.1_Nonsense_Mutation_p.E364*|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Nonsense_Mutation_p.E364*|NR1H4_uc010svk.1_Nonsense_Mutation_p.E313*|NR1H4_uc001ths.1_Nonsense_Mutation_p.E370*	p.E374*	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			8	1148	+			374			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Nonsense_Mutation	SNP	ENST00000551379.1	37	c.1120G>T	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	40	8.072179	0.98640	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	.	.	.	5.75	5.75	0.90469	.	0.044425	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	.	.	.	X	360;364;313;374;370	.	ENSP00000188403:E370X	E	+	1	0	NR1H4	99479805	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	8.942000	0.92970	2.708000	0.92522	0.650000	0.86243	GAA		0.333	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		7	33	1	0	2.77e-08	5.29e-08	7	33				
APPL2	55198	broad.mit.edu	37	12	105600878	105600878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:105600878C>T	ENST00000258530.3	-	8	807	c.582G>A	c.(580-582)atG>atA	p.M194I	APPL2_ENST00000551662.1_Missense_Mutation_p.M200I|APPL2_ENST00000539978.2_Missense_Mutation_p.M151I|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCATCATGGCCATTTGCTTTC	0.597																																						uc001tlf.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(580-582)ATG>ATA		adaptor protein, phosphotyrosine interaction, PH							105.0	86.0	93.0					12																	105600878		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105600878C>T	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.582G>A	12.37:g.105600878C>T	ENSP00000258530:p.Met194Ile					APPL2_uc010swt.1_Missense_Mutation_p.M151I|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.M200I|APPL2_uc009zuq.2_Missense_Mutation_p.M151I	p.M194I	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			8	800	-			194			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.582G>A	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	3.843	-0.033403	0.07543	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.03801	3.8;3.8;3.8	6.17	0.892	0.19230	.	0.672056	0.16282	N	0.221299	T	0.01092	0.0036	N	0.00801	-1.175	0.25111	N	0.990711	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.46162	-0.9211	10	0.02654	T	1	-2.98	2.5708	0.04794	0.1559:0.4803:0.0951:0.2688	.	200;151;194	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	I	194;151;200	ENSP00000258530:M194I;ENSP00000444472:M151I;ENSP00000446917:M200I	ENSP00000258530:M194I	M	-	3	0	APPL2	104125008	0.033000	0.19621	0.731000	0.30826	0.846000	0.48090	-0.708000	0.05035	0.466000	0.27193	0.655000	0.94253	ATG		0.597	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		13	68	0	0	0	0	13	68				
MYO1H	283446	broad.mit.edu	37	12	109849746	109849746	+	Silent	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:109849746G>C	ENST00000431443.2	+	13	1440	c.1440G>C	c.(1438-1440)ctG>ctC	p.L480L	MYO1H_ENST00000310903.5_Silent_p.L470L	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	480	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGAGTTTCCTGGAGAAATTGG	0.433																																						uc010sxn.1		NA																	0					0						c.(1408-1410)CTG>CTC		myosin 1H							108.0	95.0	99.0					12																	109849746		1905	4128	6033	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109849746G>C		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1440G>C	12.37:g.109849746G>C							p.L470L	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			13	1410	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.1410G>C																																																																																					0.433	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		3	10	0	0	0	0	3	10				
SDSL	113675	broad.mit.edu	37	12	113872019	113872019	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:113872019C>A	ENST00000403593.4	+	5	697	c.435C>A	c.(433-435)ccC>ccA	p.P145P	SDSL_ENST00000345635.4_Silent_p.P145P			Q96GA7	SDSL_HUMAN	serine dehydratase-like	145					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						TTGACCACCCCCTAATATGGT	0.602																																						uc001tvi.2		NA																	0					0						c.(433-435)CCC>CCA		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						102.0	102.0	102.0					12																	113872019		2203	4300	6503	SO:0001819	synonymous_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113872019C>A	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.435C>A	12.37:g.113872019C>A						SDSL_uc009zwh.2_Silent_p.P145P	p.P145P	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN			6	645	+			145						Silent	SNP	ENST00000403593.4	37	c.435C>A	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	C	1.708	-0.499749	0.04291	.	.	ENSG00000139410	ENST00000546672	D	0.97480	-4.4	4.53	-1.31	0.09230	.	0.061993	0.64402	D	0.000003	D	0.95468	0.8528	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90663	0.4592	7	0.87932	D	0	-13.8229	1.6533	0.02776	0.151:0.2516:0.1323:0.465	.	.	.	.	H	41	ENSP00000449136:P41H	ENSP00000449136:P41H	P	+	2	0	SDSL	112356402	0.000000	0.05858	0.997000	0.53966	0.153000	0.21895	-1.642000	0.02006	0.055000	0.16094	0.462000	0.41574	CCC		0.602	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		26	115	1	0	2.49e-11	4.97e-11	26	115				
PITPNM2	57605	broad.mit.edu	37	12	123482024	123482024	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:123482024C>T	ENST00000542749.1	-	9	1383	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	PITPNM2_ENST00000451868.2_5'Flank|PITPNM2_ENST00000392428.1_Silent_p.G161G|PITPNM2_ENST00000320201.4_Silent_p.G440G|PITPNM2_ENST00000280562.5_Silent_p.G440G			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	440					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCTGGGGTCCCCGGCGCCTG	0.662																																						uc001uej.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1318-1320)GGG>GGA		phosphatidylinositol transfer protein,							115.0	104.0	108.0					12																	123482024		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123482024C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1320G>A	12.37:g.123482024C>T						PITPNM2_uc001uek.1_Silent_p.G440G	p.G440G	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1459	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		440					Q9P271	Silent	SNP	ENST00000542749.1	37	c.1320G>A	CCDS9242.1																																																																																				0.662	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		28	87	0	0	0	0	28	87				
PXMP2	5827	broad.mit.edu	37	12	133266864	133266864	+	Silent	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr12:133266864A>T	ENST00000317479.3	+	2	203	c.138A>T	c.(136-138)gcA>gcT	p.A46A	POLE_ENST00000320574.5_5'Flank|PXMP2_ENST00000545677.1_5'UTR|PXMP2_ENST00000539093.1_5'UTR|PXMP2_ENST00000543589.1_Silent_p.A46A|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000428960.2_5'Flank|POLE_ENST00000535270.1_5'Flank	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	46						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		TTTTGTCAGCACTTGGGAACT	0.512																																						uc001ukt.2		NA																	0					0						c.(136-138)GCA>GCT		peroxisomal membrane protein 2, 22kDa							119.0	112.0	114.0					12																	133266864		2203	4300	6503	SO:0001819	synonymous_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133266864A>T		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.138A>T	12.37:g.133266864A>T						POLE_uc001uks.1_5'Flank|POLE_uc010tbq.1_5'Flank|POLE_uc009zyu.1_5'Flank|PGAM5_uc010tbr.1_RNA	p.A46A	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	2	203	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		46			Helical; (Potential).			Silent	SNP	ENST00000317479.3	37	c.138A>T	CCDS9279.1																																																																																				0.512	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		17	72	0	0	0	0	17	72				
AMER2	219287	broad.mit.edu	37	13	25743972	25743972	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:25743972G>T	ENST00000515384.1	-	1	2453	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M	AMER2_ENST00000381853.3_Missense_Mutation_p.L477M|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.L477M			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	596					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GGTGTTCGCAGTGGACAGGTG	0.572																																						uc001uqb.2		NA																	0				ovary(2)|large_intestine(1)|lung(1)	4						c.(1786-1788)CTG>ATG		hypothetical protein LOC219287 isoform 1							175.0	148.0	157.0					13																	25743972		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25743972G>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1786C>A	13.37:g.25743972G>T	ENSP00000426528:p.Leu596Met					FAM123A_uc001uqa.2_Missense_Mutation_p.L477M|FAM123A_uc001uqc.2_Missense_Mutation_p.L477M	p.L596M	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1886	-		Lung SC(185;0.0225)|Breast(139;0.0602)	596					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1786C>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471868	0.26423	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.27890	1.68;1.68;1.64	5.84	1.94	0.25998	.	0.287283	0.28895	N	0.013781	T	0.38852	0.1056	L	0.60455	1.87	0.23708	N	0.997051	D;D	0.57899	0.981;0.976	P;P	0.58077	0.832;0.741	T	0.12630	-1.0540	10	0.42905	T	0.14	-11.1162	5.6862	0.17805	0.3084:0.1289:0.5627:0.0	.	596;477	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	M	477;477;596	ENSP00000350469:L477M;ENSP00000371277:L477M;ENSP00000426528:L596M	ENSP00000350469:L477M	L	-	1	2	FAM123A	24641972	0.387000	0.25188	0.485000	0.27403	0.886000	0.51366	0.689000	0.25437	0.310000	0.22990	0.561000	0.74099	CTG		0.572	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		60	58	1	0	1.54e-20	3.24e-20	60	58				
BRCA2	675	broad.mit.edu	37	13	32907432	32907432	+	Missense_Mutation	SNP	C	C	T	rs80358469|rs587779358		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:32907432C>T	ENST00000380152.3	+	10	2050	c.1817C>T	c.(1816-1818)cCg>cTg	p.P606L	BRCA2_ENST00000544455.1_Missense_Mutation_p.P606L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	606					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAAAATACCGAAAGACCAA	0.318			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(1816-1818)CCG>CTG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset																																				SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907432C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1817C>T	13.37:g.32907432C>T	ENSP00000369497:p.Pro606Leu	TCGA Ovarian(8;0.087)				BRCA2_uc001uua.1_Missense_Mutation_p.P483L	p.P606L	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	2044	+		Lung SC(185;0.0262)	606					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.1817C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927297	0.34002	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00700	5.82;5.82	5.5	-0.305	0.12784	.	0.301827	0.28901	N	0.013780	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.04013	0.0;0.001	T	0.48927	-0.8991	10	0.59425	D	0.04	.	2.8263	0.05486	0.5004:0.2886:0.0765:0.1345	.	606;606	P51587;A1YBP1	BRCA2_HUMAN;.	L	606	ENSP00000369497:P606L;ENSP00000439902:P606L	ENSP00000369497:P606L	P	+	2	0	BRCA2	31805432	0.048000	0.20356	0.001000	0.08648	0.967000	0.64934	0.796000	0.26986	0.094000	0.17404	-0.275000	0.10095	CCG		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		6	33	0	0	0	0	6	33				
LMO7	4008	broad.mit.edu	37	13	76393647	76393647	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:76393647C>T	ENST00000321797.8	+	11	2205	c.1484C>T	c.(1483-1485)aCg>aTg	p.T495M	LMO7_ENST00000377534.3_Missense_Mutation_p.T780M|LMO7_ENST00000465261.2_Missense_Mutation_p.T495M|LMO7_ENST00000341547.4_Missense_Mutation_p.T446M|LMO7_ENST00000526202.1_Missense_Mutation_p.T345M|LMO7_ENST00000357063.3_Missense_Mutation_p.T780M			Q8WWI1	LMO7_HUMAN	LIM domain 7	780					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTCTAAGACGTTTAAGGAA	0.388																																						uc001vjv.2		NA																	0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(1483-1485)ACG>ATG		LIM domain only 7 isoform 2							96.0	101.0	99.0					13																	76393647		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76393647C>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1484C>T	13.37:g.76393647C>T	ENSP00000317802:p.Thr495Met					LMO7_uc010thv.1_Missense_Mutation_p.T446M|LMO7_uc001vjt.1_Missense_Mutation_p.T394M|LMO7_uc010thw.1_Missense_Mutation_p.T345M|LMO7_uc001vjw.1_Missense_Mutation_p.T401M	p.T495M	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2244	+		Breast(118;0.0992)	780					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1484C>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.586261	0.86851	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261;ENST00000489941;ENST00000525373	T;T;T;T;T;T;T;T	0.58060	0.94;0.48;0.48;0.38;0.48;0.36;0.48;0.48	5.45	5.45	0.79879	.	0.206931	0.49305	D	0.000150	T	0.73590	0.3606	M	0.76002	2.32	0.54753	D	0.999983	D;P;P;D;D	0.89917	0.976;0.95;0.939;1.0;1.0	P;B;P;D;D	0.74674	0.475;0.226;0.59;0.974;0.984	T	0.76471	-0.2947	10	0.87932	D	0	-14.7014	18.9009	0.92442	0.0:1.0:0.0:0.0	.	345;446;780;495;728	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	M	446;780;780;394;495;345;495;161;151	ENSP00000342112:T446M;ENSP00000349571:T780M;ENSP00000366757:T780M;ENSP00000366719:T394M;ENSP00000317802:T495M;ENSP00000431129:T345M;ENSP00000433352:T495M;ENSP00000431896:T151M	ENSP00000317802:T495M	T	+	2	0	LMO7	75291648	0.998000	0.40836	0.959000	0.39883	0.978000	0.69477	4.219000	0.58561	2.573000	0.86826	0.462000	0.41574	ACG		0.388	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		16	38	0	0	0	0	16	38				
SCEL	8796	broad.mit.edu	37	13	78183252	78183252	+	Splice_Site	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:78183252G>T	ENST00000349847.3	+	21	1361	c.1277G>T	c.(1276-1278)gGg>gTg	p.G426V	SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000535157.1_Splice_Site_p.G384V|SCEL_ENST00000377246.3_Splice_Site_p.G406V|SCEL-AS1_ENST00000457528.2_RNA	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	426	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGTACTGAAGGGTAAGATTTA	0.313																																						uc001vki.2		NA																	0				ovary(4)|breast(1)	5						c.(1276-1278)GGG>GTG		sciellin isoform 1							94.0	94.0	94.0					13																	78183252		2201	4300	6501	SO:0001630	splice_region_variant	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78183252G>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1277+1G>T	13.37:g.78183252G>T						SCEL_uc001vkj.2_Missense_Mutation_p.G406V|SCEL_uc010thx.1_Missense_Mutation_p.G384V	p.G426V	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	21	1447	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	426			9.|16 X approximate tandem repeats.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.1277G>T	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015687	0.35606	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.22743	2.15;1.94;1.94	4.53	2.76	0.32466	.	0.273816	0.26923	N	0.021803	T	0.35219	0.0924	M	0.71036	2.16	0.80722	D	1	D;D;D	0.67145	0.971;0.989;0.996	P;P;P	0.62298	0.79;0.847;0.9	T	0.05767	-1.0865	10	0.33940	T	0.23	-3.1426	6.4239	0.21758	0.2283:0.0:0.7717:0.0	.	384;406;426	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	V	384;406;426	ENSP00000437895:G384V;ENSP00000366454:G406V;ENSP00000302579:G426V	ENSP00000302579:G426V	G	+	2	0	SCEL	77081253	1.000000	0.71417	0.803000	0.32268	0.213000	0.24496	1.809000	0.38922	0.623000	0.30267	0.655000	0.94253	GGG		0.313	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	Missense_Mutation	10	17	1	0	1.59e-06	2.94e-06	10	17				
FGF14	2259	broad.mit.edu	37	13	102375271	102375271	+	Silent	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr13:102375271G>C	ENST00000376143.4	-	5	653	c.654C>G	c.(652-654)gtC>gtG	p.V218V	FGF14_ENST00000376131.4_Silent_p.V223V|ITGBL1_ENST00000415285.1_3'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	218					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGGCTTCGGGACCGTTTCCC	0.478																																						uc001vpe.2		NA																	0				ovary(2)|lung(1)|large_intestine(1)	4						c.(652-654)GTC>GTG		fibroblast growth factor 14 isoform 1A							232.0	181.0	198.0					13																	102375271		2203	4300	6503	SO:0001819	synonymous_variant	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102375271G>C		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.654C>G	13.37:g.102375271G>C						FGF14_uc001vpf.2_Silent_p.V223V|FGF14_uc001vpd.1_5'Flank	p.V218V	NM_004115	NP_004106	Q92915	FGF14_HUMAN			5	654	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		218					Q86YN7|Q96QX6	Silent	SNP	ENST00000376143.4	37	c.654C>G	CCDS9501.1																																																																																				0.478	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			45	41	0	0	0	0	45	41				
TOX4	9878	broad.mit.edu	37	14	21957421	21957421	+	Silent	SNP	T	T	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:21957421T>C	ENST00000405508.1	+	6	945	c.669T>C	c.(667-669)ccT>ccC	p.P223P	TOX4_ENST00000262709.3_Silent_p.P223P|TOX4_ENST00000448790.2_Silent_p.P200P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	223						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTAATGAACCTCAGAAACCAG	0.443																																						uc001waz.2		NA																	0				ovary(1)	1						c.(667-669)CCT>CCC		epidermal Langerhans cell protein LCP1							144.0	156.0	152.0					14																	21957421		2203	4300	6503	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21957421T>C	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.669T>C	14.37:g.21957421T>C						TOX4_uc001way.2_Silent_p.P93P|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.P200P|TOX4_uc010tlv.1_Silent_p.P93P	p.P223P	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	5	772	+	all_cancers(95;0.000465)		223			HMG box.		B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.669T>C	CCDS32043.1																																																																																				0.443	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		58	72	0	0	0	0	58	72				
KCNH5	27133	broad.mit.edu	37	14	63246619	63246619	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:63246619T>A	ENST00000322893.7	-	10	2114	c.1846A>T	c.(1846-1848)Atc>Ttc	p.I616F	KCNH5_ENST00000394968.1_Missense_Mutation_p.I558F|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	616					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)		TTCCAGAAGATGTCTCCAAAT	0.423																																						uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1846-1848)ATC>TTC		potassium voltage-gated channel, subfamily H,							87.0	73.0	78.0					14																	63246619		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.chr14:63246619T>A	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.1846A>T	14.37:g.63246619T>A	ENSP00000321427:p.Ile616Phe					KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Missense_Mutation_p.I558F	p.I616F	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	1897	-			616			cNMP.|Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1846A>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020772	0.54576	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.97041	-4.22;-4.22	5.58	5.58	0.84498	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.107801	0.64402	D	0.000005	D	0.94571	0.8251	L	0.43598	1.365	0.80722	D	1	B;B	0.23442	0.03;0.085	B;B	0.28305	0.009;0.088	D	0.92125	0.5707	10	0.56958	D	0.05	.	10.1516	0.42796	0.0:0.0744:0.0:0.9256	.	558;616	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	F	616;558	ENSP00000321427:I616F;ENSP00000378419:I558F	ENSP00000321427:I616F	I	-	1	0	KCNH5	62316372	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.111000	0.57838	2.129000	0.65627	0.397000	0.26171	ATC		0.423	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		14	31	0	0	0	0	14	31				
AKAP5	9495	broad.mit.edu	37	14	64936395	64936395	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:64936395G>C	ENST00000394718.4	+	2	1661	c.1283G>C	c.(1282-1284)tGa>tCa	p.*428S	ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Nonstop_Mutation_p.*428S|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	0					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTTCTACAGTGACTTACTCTC	0.343																																						uc001xhd.3		NA																	0					0						c.(1282-1284)TGA>TCA		A-kinase anchor protein 5							51.0	56.0	54.0					14																	64936395		2197	4286	6483	SO:0001578	stop_lost	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936395G>C	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1283G>C	14.37:g.64936395G>C	ENSP00000378207:p.*428Serext*27					ZBTB25_uc001xhc.2_Intron	p.*428S	NM_004857	NP_004848	P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	2	1661	+			428					A2RRB8	Nonstop_Mutation	SNP	ENST00000394718.4	37	c.1283G>C	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573217	0.86542	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7191	0.85405	0.0:0.0:1.0:0.0	.	.	.	.	S	428	.	.	X	+	2	2	AKAP5	64006148	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.942000	0.56614	2.793000	0.96121	0.655000	0.94253	TGA		0.343	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			11	65	0	0	0	0	11	65				
YLPM1	56252	broad.mit.edu	37	14	75264441	75264441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:75264441G>A	ENST00000325680.7	+	5	2565	c.2441G>A	c.(2440-2442)cGg>cAg	p.R814Q	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.R619Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	619	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATGATTCCCCGGGGGCCAGCA	0.532																																						uc001xqj.3		NA																	0				ovary(2)|pancreas(1)	3						c.(2440-2442)CGG>CAG		YLP motif containing 1							48.0	50.0	49.0					14																	75264441		1874	4099	5973	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264441G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2441G>A	14.37:g.75264441G>A	ENSP00000324463:p.Arg814Gln					YLPM1_uc001xql.3_RNA	p.R814Q	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	2565	+			619					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.2441G>A	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304920	0.60305	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000013	T	0.73853	0.3640	L	0.51422	1.61	0.42587	D	0.99323	D	0.89917	1.0	D	0.81914	0.995	T	0.69935	-0.5010	9	0.28530	T	0.3	-12.5949	17.4207	0.87514	0.0:0.0:1.0:0.0	.	814	P49750-4	.	Q	814;619;527	.	ENSP00000238571:R619Q	R	+	2	0	YLPM1	74334194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.338000	0.72963	2.611000	0.88343	0.551000	0.68910	CGG		0.532	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		11	36	0	0	0	0	11	36				
HERC2	8924	broad.mit.edu	37	15	28491924	28491924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:28491924C>T	ENST00000261609.7	-	22	3463	c.3355G>A	c.(3355-3357)Gcg>Acg	p.A1119T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCACCTCCGCGAAGTGCCGC	0.488																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(3355-3357)GCG>ACG		hect domain and RLD 2							63.0	61.0	62.0					15																	28491924		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28491924C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3355G>A	15.37:g.28491924C>T	ENSP00000261609:p.Ala1119Thr						p.A1119T	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	22	3461	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1119						Missense_Mutation	SNP	ENST00000261609.7	37	c.3355G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420986	0.83559	.	.	ENSG00000128731	ENST00000261609	T	0.38887	1.11	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.46048	-0.9219	10	0.16896	T	0.51	.	18.3819	0.90453	0.0:1.0:0.0:0.0	.	1119	O95714	HERC2_HUMAN	T	1119	ENSP00000261609:A1119T	ENSP00000261609:A1119T	A	-	1	0	HERC2	26165519	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.818000	0.86416	2.436000	0.82500	0.650000	0.86243	GCG		0.488	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		14	47	0	0	0	0	14	47				
VPS39	23339	broad.mit.edu	37	15	42470746	42470746	+	Missense_Mutation	SNP	A	A	C	rs546186878		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:42470746A>C	ENST00000348544.4	-	10	773	c.774T>G	c.(772-774)atT>atG	p.I258M	VPS39_ENST00000318006.5_Missense_Mutation_p.I247M			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	258	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GCAACACTGCAATGATGTAGG	0.478																																						uc001zpd.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(772-774)ATT>ATG		vacuolar protein sorting 39							110.0	101.0	104.0					15																	42470746		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42470746A>C	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.774T>G	15.37:g.42470746A>C	ENSP00000335193:p.Ile258Met					VPS39_uc001zpc.2_Missense_Mutation_p.I247M	p.I258M	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	10	925	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	258			CNH.		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.774T>G	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.379142	0.42207	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.05199	3.48;3.48	5.18	-3.81	0.04294	Citron-like (2);	0.098660	0.64402	D	0.000002	T	0.07999	0.0200	L	0.58428	1.81	0.50171	D	0.999851	B;B	0.30211	0.273;0.076	B;B	0.38985	0.287;0.189	T	0.08911	-1.0699	10	0.56958	D	0.05	-7.6728	7.7861	0.29093	0.6766:0.0:0.2214:0.1021	.	258;247	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	M	247;258	ENSP00000326534:I247M;ENSP00000335193:I258M	ENSP00000326534:I247M	I	-	3	3	VPS39	40258038	0.078000	0.21339	0.965000	0.40720	0.964000	0.63967	-0.511000	0.06321	-0.854000	0.04131	-1.114000	0.02060	ATT		0.478	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		10	60	0	0	0	0	10	60				
CATSPER2	117155	broad.mit.edu	37	15	43927557	43927557	+	Splice_Site	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:43927557C>G	ENST00000321596.5	-	10	1378		c.e10+1		CATSPER2_ENST00000354127.4_Splice_Site|CATSPER2_ENST00000355438.2_Splice_Site|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Splice_Site|CATSPER2_ENST00000396879.1_Splice_Site|RNU6-610P_ENST00000384264.1_RNA			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2						calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATACTCCTAACCTGTCCTCTA	0.368											OREG0003957	type=REGULATORY REGION|Gene=AK093318|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001zsh.2		NA																	0				ovary(1)	1						c.e10+1		sperm-associated cation channel 2 isoform 2							224.0	219.0	221.0					15																	43927557		2199	4297	6496	SO:0001630	splice_region_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43927557C>G	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1178+1G>C	15.37:g.43927557C>G			OREG0003957	type=REGULATORY REGION|Gene=AK093318|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	920	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Splice_Site|CATSPER2_uc001zsi.2_Splice_Site_p.R393_splice|CATSPER2_uc001zsj.2_Splice_Site_p.R393_splice	p.S393_splice	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1393	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)						Q8NHT9|Q96P54|Q96P55	Splice_Site	SNP	ENST00000321596.5	37	c.1178_splice	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927536	0.34002	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5659	0.56310	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CATSPER2	41714849	1.000000	0.71417	0.995000	0.50966	0.103000	0.19146	3.166000	0.50785	2.419000	0.82065	0.563000	0.77884	.		0.368	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	Intron	23	298	0	0	0	0	23	298				
CYP1A2	1544	broad.mit.edu	37	15	75047386	75047386	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr15:75047386G>T	ENST00000343932.4	+	7	1571	c.1508G>T	c.(1507-1509)cGc>cTc	p.R503L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	503					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AAGCACGCCCGCTGTGAACAT	0.627																																						uc002ayr.1		NA																	0				ovary(3)|breast(1)	4						c.(1507-1509)CGC>CTC		cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						54.0	47.0	49.0					15																	75047386		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75047386G>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1508G>T	15.37:g.75047386G>T	ENSP00000342007:p.Arg503Leu						p.R503L	NM_000761	NP_000752	P05177	CP1A2_HUMAN			7	1572	+			503					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1508G>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504780	0.64410	.	.	ENSG00000140505	ENST00000343932	T	0.69685	-0.42	3.92	-0.699	0.11277	.	0.582560	0.18933	N	0.127180	T	0.68897	0.3051	M	0.89601	3.045	0.18873	N	0.999984	B	0.26400	0.148	B	0.33295	0.161	T	0.64888	-0.6301	10	0.66056	D	0.02	.	6.2243	0.20700	0.2364:0.3068:0.4568:0.0	.	503	P05177-2	.	L	503	ENSP00000342007:R503L	ENSP00000342007:R503L	R	+	2	0	CYP1A2	72834439	0.005000	0.15991	0.000000	0.03702	0.814000	0.46013	0.671000	0.25172	-0.372000	0.07992	0.455000	0.32223	CGC		0.627	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		7	34	1	0	0.00307968	0.00523619	7	34				
PLK1	5347	broad.mit.edu	37	16	23700835	23700835	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:23700835C>T	ENST00000300093.4	+	9	1557	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	482					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTAAATATTTCCGCAATTACA	0.552																																					Colon(12;240 564 27038 33155)	uc002dlz.1		NA																	0				lung(1)|skin(1)	2						c.(1444-1446)TTC>TTT		polo-like kinase 1							59.0	62.0	61.0					16																	23700835		2197	4300	6497	SO:0001819	synonymous_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23700835C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1446C>T	16.37:g.23700835C>T							p.F482F	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	9	1499	+			482					Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	c.1446C>T	CCDS10616.1																																																																																				0.552	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		34	66	0	0	0	0	34	66				
RPGRIP1L	23322	broad.mit.edu	37	16	53675283	53675283	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:53675283C>T	ENST00000379925.3	-	18	2838	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	RPGRIP1L_ENST00000568009.1_5'Flank|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.E930K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E930K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E930K	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	930					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CCTAAGTCTTCAGTTGTTATT	0.403																																						uc002ehp.2		NA																	0				ovary(1)	1						c.(2788-2790)GAA>AAA		RPGRIP1-like isoform a							115.0	106.0	109.0					16																	53675283		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53675283C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2788G>A	16.37:g.53675283C>T	ENSP00000369257:p.Glu930Lys					RPGRIP1L_uc002eho.3_Missense_Mutation_p.E930K|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E930K|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.E930K|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E930K	p.E930K	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			18	2852	-		all_cancers(37;0.0973)	930					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.2788G>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077188	0.20227	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.76578	-0.82;-1.03	5.16	3.2	0.36748	.	0.502820	0.20587	N	0.089439	T	0.58821	0.2149	N	0.12182	0.205	0.80722	D	1	B;B;B;B	0.10296	0.001;0.001;0.001;0.003	B;B;B;B	0.10450	0.004;0.004;0.002;0.005	T	0.48410	-0.9038	10	0.30078	T	0.28	-7.0071	9.7903	0.40702	0.0:0.8372:0.0:0.1628	.	930;930;930;930	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	K	930	ENSP00000369257:E930K;ENSP00000262135:E930K	ENSP00000262135:E930K	E	-	1	0	RPGRIP1L	52232784	0.949000	0.32298	0.863000	0.33907	0.420000	0.31355	1.440000	0.35024	0.662000	0.31006	0.591000	0.81541	GAA		0.403	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		19	47	0	0	0	0	19	47				
PDPR	55066	broad.mit.edu	37	16	70164400	70164400	+	Missense_Mutation	SNP	G	G	T	rs556717561	byFrequency	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:70164400G>T	ENST00000288050.4	+	7	1639	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	PDPR_ENST00000398122.3_Missense_Mutation_p.D128Y|PDPR_ENST00000568530.1_Missense_Mutation_p.D228Y	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	228					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGTGGAGACCGATAAAGGACA	0.423																																						uc002eyf.1		NA																	0				breast(1)	1						c.(682-684)GAT>TAT		pyruvate dehydrogenase phosphatase regulatory																																				SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70164400G>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.682G>T	16.37:g.70164400G>T	ENSP00000288050:p.Asp228Tyr					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.D128Y|PDPR_uc002eyg.1_5'Flank	p.D228Y	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	7	1639	+			228					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.682G>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904036	0.92035	.	.	ENSG00000090857	ENST00000288050;ENST00000398122	D;D	0.86097	-2.07;-2.07	4.93	4.93	0.64822	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94086	0.7348	10	0.72032	D	0.01	.	17.1212	0.86701	0.0:0.0:1.0:0.0	.	228	Q8NCN5	PDPR_HUMAN	Y	228;128	ENSP00000288050:D228Y;ENSP00000381190:D128Y	ENSP00000288050:D228Y	D	+	1	0	PDPR	68721901	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.613000	0.82986	2.274000	0.75844	0.557000	0.71058	GAT		0.423	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		7	111	1	0	0.000274275	0.000483734	7	111				
CMTR2	55783	broad.mit.edu	37	16	71319208	71319208	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:71319208T>A	ENST00000338099.5	-	3	952	c.616A>T	c.(616-618)Aac>Tac	p.N206Y	CMTR2_ENST00000434935.2_Missense_Mutation_p.N206Y			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	206	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TCACCAGTGTTATCTGGACCA	0.428																																						uc010cga.2		NA																	0				skin(1)	1						c.(616-618)AAC>TAC		FtsJ methyltransferase domain containing 1							119.0	111.0	114.0					16																	71319208		2198	4300	6498	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319208T>A	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.616A>T	16.37:g.71319208T>A	ENSP00000337512:p.Asn206Tyr					FTSJD1_uc002ezy.3_Missense_Mutation_p.N206Y|FTSJD1_uc002ezz.3_Missense_Mutation_p.N206Y	p.N206Y	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	1022	-			206					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.616A>T	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212714	0.58452	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.40756	1.02;1.02	6.0	6.0	0.97389	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.046120	0.85682	D	0.000000	T	0.66499	0.2795	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69910	-0.5017	10	0.66056	D	0.02	-29.6669	15.7413	0.77899	0.0:0.0:0.0:1.0	.	206	Q8IYT2	FTSJ1_HUMAN	Y	206	ENSP00000337512:N206Y;ENSP00000411148:N206Y	ENSP00000337512:N206Y	N	-	1	0	FTSJD1	69876709	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.863000	0.56016	2.313000	0.78055	0.454000	0.30748	AAC		0.428	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		20	60	0	0	0	0	20	60				
CNTNAP4	85445	broad.mit.edu	37	16	76496003	76496003	+	Splice_Site	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr16:76496003G>A	ENST00000476707.1	+	8	1631		c.e8+1		CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000377504.4_Splice_Site|CNTNAP4_ENST00000307431.8_Splice_Site|CNTNAP4_ENST00000469589.1_Splice_Site			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4						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						TATTTTGGAGGTAAGAATAGG	0.473																																						uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.e11+1		cell recognition protein CASPR4 isoform 1							34.0	34.0	34.0					16																	76496003		2197	4300	6497	SO:0001630	splice_region_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76496003G>A	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.1492+1G>A	16.37:g.76496003G>A						CNTNAP4_uc002fev.1_Splice_Site_p.G359_splice|CNTNAP4_uc010chb.1_Splice_Site_p.G422_splice|CNTNAP4_uc002fex.1_Splice_Site_p.G498_splice|CNTNAP4_uc002few.2_Splice_Site_p.G470_splice	p.G495_splice	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			11	1868	+								E9PFZ6|Q86YZ7	Splice_Site	SNP	ENST00000476707.1	37	c.1483_splice		.	.	.	.	.	.	.	.	.	.	G	21.3	4.124816	0.77436	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0696	0.89402	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP4	75053504	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.044000	0.89434	2.570000	0.86706	0.650000	0.86243	.		0.473	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	Intron	8	25	0	0	0	0	8	25				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:7578271T>A	ENST00000269305.4	-	6	767	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000420246.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		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		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(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	CM083194|CM951225	TP53	M		c.(577-579)CAT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>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.578A>T	17.37:g.7578271T>A	ENSP00000269305:p.His193Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L	p.H193L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	772	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752987	0.49362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	M	0.92738	3.34	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97204	0.9866	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193L;ENSP00000352610:H193L;ENSP00000269305:H193L;ENSP00000398846:H193L;ENSP00000391127:H193L;ENSP00000391478:H193L;ENSP00000425104:H61L;ENSP00000423862:H100L	ENSP00000269305:H193L	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	19	0	0	0	0	29	19				
MPRIP	23164	broad.mit.edu	37	17	17078662	17078662	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:17078662G>A	ENST00000341712.4	+	19	2645	c.2645G>A	c.(2644-2646)gGg>gAg	p.G882E	MPRIP_ENST00000395811.5_Missense_Mutation_p.G882E|MPRIP_ENST00000444976.1_Missense_Mutation_p.G844E|MPRIP_ENST00000395804.3_Missense_Mutation_p.G882E|RP11-45M22.3_ENST00000584203.1_RNA			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	882						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGCTGACTGGGGACGGCGGT	0.632																																						uc002gqu.1		NA																	0					0						c.(2644-2646)GGG>GAG		myosin phosphatase-Rho interacting protein							44.0	40.0	42.0					17																	17078662		2203	4296	6499	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17078662G>A	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2645G>A	17.37:g.17078662G>A	ENSP00000342379:p.Gly882Glu					MPRIP_uc002gqv.1_Missense_Mutation_p.G882E|MPRIP_uc002gqw.1_Missense_Mutation_p.G637E|MPRIP_uc002gqx.1_Missense_Mutation_p.G1111E|MPRIP_uc002gqy.1_Missense_Mutation_p.G1111E|MPRIP_uc010cpl.1_Intron|MPRIP_uc010cpm.1_Intron	p.G882E	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			19	2701	+			882			Potential.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2645G>A	CCDS32578.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.87|15.87|15.87	2.962156|2.962156|2.962156	0.53400|0.53400|0.53400	.|.|.	.|.|.	ENSG00000133030|ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000414263|ENST00000313485	T;T;T;T|.|.	0.21734|.|.	1.99;2.32;2.32;2.32|.|.	5.77|5.77|5.77	5.77|5.77|5.77	0.91146|0.91146|0.91146	.|.|.	0.123456|0.123456|.	0.51477|0.51477|.	N|N|.	0.000091|0.000091|.	T|T|.	0.61060|0.61060|.	0.2317|0.2317|.	L|L|L	0.31926|0.31926|0.31926	0.97|0.97|0.97	0.54753|0.54753|0.54753	D|D|D	0.999983|0.999983|0.999983	D;B;B|.|.	0.76494|.|.	0.999;0.39;0.115|.|.	D;B;B|.|.	0.71656|.|.	0.974;0.406;0.031|.|.	T|T|.	0.53436|0.53436|.	-0.8439|-0.8439|.	10|7|.	0.30078|0.66056|.	T|D|.	0.28|0.02|.	-15.6557|-15.6557|-15.6557	19.9925|19.9925|19.9925	0.97371|0.97371|0.97371	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1246;882;882|.|.	Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.|.	.;.;MPRIP_HUMAN|.|.	E|R|X	844;882;882;882|948|1246	ENSP00000400189:G844E;ENSP00000379156:G882E;ENSP00000379149:G882E;ENSP00000342379:G882E|.|.	ENSP00000342379:G882E|ENSP00000412147:G948R|.	G|G|W	+|+|+	2|1|3	0|0|0	MPRIP|MPRIP|MPRIP	17019387|17019387|17019387	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.834000|0.834000|0.834000	0.33040|0.33040|0.33040	0.669000|0.669000|0.669000	0.39330|0.39330|0.39330	6.478000|6.478000|6.478000	0.73596|0.73596|0.73596	2.721000|2.721000|2.721000	0.93114|0.93114|0.93114	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|GGG|TGG		0.632	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		10	32	0	0	0	0	10	32				
FLII	2314	broad.mit.edu	37	17	18155350	18155350	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:18155350C>A	ENST00000327031.4	-	11	1434	c.1209G>T	c.(1207-1209)gcG>gcT	p.A403A	FLII_ENST00000545457.2_Silent_p.A349A|FLII_ENST00000579294.1_Silent_p.A392A|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000578558.1_Silent_p.A403A|FLII_ENST00000379450.4_Silent_p.A318A	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	403	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GAGAGGCACCCGCTAGCCGCA	0.637																																						uc002gsr.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1207-1209)GCG>GCT		flightless I homolog							57.0	65.0	62.0					17																	18155350		2203	4296	6499	SO:0001819	synonymous_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18155350C>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1209G>T	17.37:g.18155350C>A						FLII_uc002gsq.1_Silent_p.A275A|FLII_uc010cpy.1_Silent_p.A392A|FLII_uc010vxn.1_Silent_p.A372A|FLII_uc010vxo.1_Silent_p.A349A|FLII_uc002gss.1_Silent_p.A403A	p.A403A	NM_002018	NP_002009	Q13045	FLII_HUMAN			11	1260	-	all_neural(463;0.228)		403			Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	c.1209G>T	CCDS11192.1																																																																																				0.637	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		50	100	1	0	4e-15	8.33e-15	50	100				
HEATR9	256957	broad.mit.edu	37	17	34192401	34192401	+	Splice_Site	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:34192401C>A	ENST00000311880.2	-	3	287		c.e3-1		C17orf66_ENST00000592980.1_Splice_Site|C17orf66_ENST00000587585.1_Splice_Site	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN							hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTTTGGCATCTGGGGGTTGC	0.562																																						uc002hke.1		NA																	0				breast(2)|skin(1)	3						c.e3-1		hypothetical protein LOC256957							65.0	56.0	59.0					17																	34192401		2203	4300	6503	SO:0001630	splice_region_variant	256957						binding	g.chr17:34192401C>A																												ENST00000311880.2:c.139-1G>T	17.37:g.34192401C>A						C17orf66_uc010wck.1_Splice_Site|C17orf66_uc010wcl.1_Splice_Site_p.M47_splice|C17orf66_uc010wcm.1_Splice_Site_p.M13_splice	p.M47_splice	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	3	288	-		Ovarian(249;0.17)						B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Splice_Site	SNP	ENST00000311880.2	37	c.139_splice	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	c	15.18	2.757164	0.49468	.	.	ENSG00000172653	ENST00000311880	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8289	0.57735	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C17orf66	31216514	0.867000	0.29959	0.610000	0.28997	0.339000	0.28857	3.018000	0.49625	2.755000	0.94549	0.655000	0.94253	.		0.562	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1		Intron	13	19	1	0	0.00136819	0.00235449	13	19				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						uc010wfo.1		NA																	4	Substitution - Missense(4)		endometrium(3)|kidney(1)		0						c.(283-285)TGC>AGC		keratin associated protein 4.8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	322	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15.		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		6	52	0	0	0	0	6	52				
KRT13	3860	broad.mit.edu	37	17	39658642	39658642	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:39658642C>T	ENST00000246635.3	-	6	1274	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	KRT13_ENST00000587544.1_Missense_Mutation_p.E410K|KRT13_ENST00000336861.3_Missense_Mutation_p.E410K|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	410	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCCTGGCCCTCGAGCAGGCTG	0.592																																						uc002hwu.1		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1228-1230)GAG>AAG		keratin 13 isoform a							133.0	118.0	123.0					17																	39658642		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658642C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1228G>A	17.37:g.39658642C>T	ENSP00000246635:p.Glu410Lys					KRT13_uc002hwv.1_Missense_Mutation_p.E410K|KRT13_uc002hww.2_Missense_Mutation_p.E303K|KRT13_uc010wfr.1_Missense_Mutation_p.E303K|KRT13_uc010cxo.2_Missense_Mutation_p.E410K|KRT13_uc002hwx.1_Missense_Mutation_p.E398K	p.E410K	NM_153490	NP_705694	P13646	K1C13_HUMAN			6	1291	-		Breast(137;0.000286)	410			Rod.|Coil 2.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.1228G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697159	0.88830	.	.	ENSG00000171401	ENST00000246635;ENST00000336861	D;D	0.94457	-3.43;-3.43	4.45	4.45	0.53987	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.47852	D	0.000217	D	0.97911	0.9313	H	0.95437	3.67	0.54753	D	0.999982	D;D;D	0.71674	0.998;0.995;0.998	D;D;D	0.70935	0.971;0.918;0.971	D	0.98799	1.0739	10	0.87932	D	0	.	14.8526	0.70309	0.0:0.8561:0.1439:0.0	.	410;410;410	A1A4E9;P13646-3;P13646	.;.;K1C13_HUMAN	K	410	ENSP00000246635:E410K;ENSP00000336604:E410K	ENSP00000246635:E410K	E	-	1	0	KRT13	36912168	0.979000	0.34478	0.983000	0.44433	0.936000	0.57629	2.540000	0.45727	2.460000	0.83146	0.478000	0.44815	GAG		0.592	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		40	119	0	0	0	0	40	119				
SMG8	55181	broad.mit.edu	37	17	57288460	57288460	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:57288460A>T	ENST00000543872.2	+	2	1312	c.1048A>T	c.(1048-1050)Atg>Ttg	p.M350L	SMG8_ENST00000300917.5_Missense_Mutation_p.M350L|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.M350L|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	350					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCCAGTAGGTATGTTGCTGGA	0.522																																						uc002ixi.2		NA																	0					0						c.(1048-1050)ATG>TTG		SMG8 protein							79.0	62.0	67.0					17																	57288460		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288460A>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1048A>T	17.37:g.57288460A>T	ENSP00000438748:p.Met350Leu						p.M350L	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			1	1090	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		350					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1048A>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	A	6.245	0.413255	0.11812	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.42513	0.97;0.97	5.88	4.74	0.60224	.	0.260788	0.51477	D	0.000095	T	0.30262	0.0759	L	0.36672	1.1	0.34882	D	0.744665	B	0.02656	0.0	B	0.04013	0.001	T	0.30475	-0.9977	10	0.11485	T	0.65	-15.0508	12.0882	0.53710	0.8567:0.1433:0.0:0.0	.	350	Q8ND04	SMG8_HUMAN	L	350	ENSP00000300917:M350L;ENSP00000438748:M350L	ENSP00000300917:M350L	M	+	1	0	SMG8	54643242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.868000	0.39509	2.235000	0.73313	0.533000	0.62120	ATG		0.522	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		19	48	0	0	0	0	19	48				
CCDC40	55036	broad.mit.edu	37	17	78059875	78059875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:78059875C>A	ENST00000397545.4	+	14	2336	c.2309C>A	c.(2308-2310)gCg>gAg	p.A770E	CCDC40_ENST00000374877.3_Missense_Mutation_p.A770E	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	770					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GATGGCAAGGCGGTCCAGGCC	0.587																																						uc010dht.2		NA																	0				ovary(3)	3						c.(2308-2310)GCG>GAG		coiled-coil domain containing 40							46.0	53.0	51.0					17																	78059875		2080	4195	6275	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78059875C>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2309C>A	17.37:g.78059875C>A	ENSP00000380679:p.Ala770Glu					CCDC40_uc002jxm.3_Missense_Mutation_p.A553E|CCDC40_uc002jxn.3_Missense_Mutation_p.A166E	p.A770E	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		14	2336	+	all_neural(118;0.167)		770			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.2309C>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	6.165	0.398646	0.11696	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46451	0.87;0.88	4.94	2.72	0.32119	.	.	.	.	.	T	0.30103	0.0754	N	0.22421	0.69	0.09310	N	1	B;B	0.32188	0.245;0.359	B;B	0.31290	0.065;0.127	T	0.12400	-1.0549	9	0.51188	T	0.08	-13.8134	12.0108	0.53286	0.0:0.0767:0.0:0.9233	.	770;553	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	E	770	ENSP00000364011:A770E;ENSP00000380679:A770E	ENSP00000364011:A770E	A	+	2	0	CCDC40	75674470	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.729000	0.26028	0.258000	0.21686	-1.407000	0.01130	GCG		0.587	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		6	55	1	0	3.6e-05	6.49e-05	6	55				
ZNF519	162655	broad.mit.edu	37	18	14106335	14106335	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr18:14106335C>A	ENST00000590202.1	-	3	356	c.204G>T	c.(202-204)ctG>ctT	p.L68L	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CATATCTTCCCAGTGTTGCTT	0.343																																						uc002kst.1		NA																	0					0						c.(202-204)CTG>CTT		zinc finger protein 519							53.0	54.0	54.0					18																	14106335		2202	4299	6501	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14106335C>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.204G>T	18.37:g.14106335C>A						ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	p.L68L	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			3	357	-			68			KRAB.			Silent	SNP	ENST00000590202.1	37	c.204G>T	CCDS32797.1																																																																																				0.343	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		9	47	1	0	0.000274275	0.000483734	9	47				
C19orf12	83636	broad.mit.edu	37	19	30193700	30193700	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:30193700C>T	ENST00000392278.2	-	3	504	c.378G>A	c.(376-378)gaG>gaA	p.E126E	C19orf12_ENST00000323670.9_Silent_p.E115E|C19orf12_ENST00000592153.1_Splice_Site|C19orf12_ENST00000392276.1_Silent_p.E51E|C19orf12_ENST00000392275.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	126					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GCTGCAGGGCCTCGCTGCCCA	0.642																																						uc002nsk.2		NA																	0					0						c.(343-345)GAG>GAA		hypothetical protein LOC83636 isoform 2							37.0	39.0	38.0					19																	30193700		2203	4300	6503	SO:0001819	synonymous_variant	83636					integral to membrane		g.chr19:30193700C>T	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.378G>A	19.37:g.30193700C>T						C19orf12_uc002nsj.2_Silent_p.E126E|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_Intron	p.E115E	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		3	776	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		115					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Silent	SNP	ENST00000392278.2	37	c.345G>A	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	C	2.049	-0.418256	0.04766	.	.	ENSG00000131943	ENST00000342680	.	.	.	5.2	0.814	0.18756	.	.	.	.	.	T	0.10637	0.0260	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28808	-1.0032	5	0.10902	T	0.67	-31.0681	0.9069	0.01286	0.2533:0.3622:0.2023:0.1822	.	.	.	.	K	97	.	ENSP00000345497:R97K	R	-	2	0	C19orf12	34885540	0.000000	0.05858	0.969000	0.41365	0.932000	0.56968	-0.168000	0.09925	1.206000	0.43276	-0.229000	0.12294	AGG		0.642	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		10	22	0	0	0	0	10	22				
ATP4A	495	broad.mit.edu	37	19	36046418	36046418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:36046418C>T	ENST00000262623.3	-	14	2109	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	694					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGGGTGGGTGCGCAGGGCCTC	0.652																																						uc002oal.1		NA																	0				ovary(1)	1						c.(2080-2082)CGC>CAC		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						44.0	45.0	44.0					19																	36046418		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046418C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2081G>A	19.37:g.36046418C>T	ENSP00000262623:p.Arg694His					ATP4A_uc010eee.1_5'UTR	p.R694H	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		14	2110	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		694			Cytoplasmic (Potential).		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2081G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590649	0.66219	.	.	ENSG00000105675	ENST00000262623	D	0.94000	-3.33	4.87	4.87	0.63330	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.086896	0.43416	D	0.000565	D	0.93733	0.7997	M	0.67625	2.065	0.39662	D	0.970623	P	0.39116	0.66	P	0.49637	0.617	D	0.93330	0.6700	10	0.51188	T	0.08	.	9.0053	0.36109	0.0:0.9017:0.0:0.0983	.	694	P20648	ATP4A_HUMAN	H	694	ENSP00000262623:R694H	ENSP00000262623:R694H	R	-	2	0	ATP4A	40738258	0.016000	0.18221	0.998000	0.56505	0.823000	0.46562	0.916000	0.28651	2.537000	0.85549	0.462000	0.41574	CGC		0.652	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		11	30	0	0	0	0	11	30				
CATSPERG	57828	broad.mit.edu	37	19	38860883	38860883	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:38860883C>A	ENST00000409235.3	+	28	3313	c.3198C>A	c.(3196-3198)gcC>gcA	p.A1066A	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.A1026A	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1066					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCAAGCGGGCCCTTTTCATCA	0.597																																						uc002oih.3		NA																	0				ovary(1)|skin(1)	2						c.(3196-3198)GCC>GCA		cation channel, sperm-associated, gamma							46.0	41.0	42.0					19																	38860883		2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38860883C>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3198C>A	19.37:g.38860883C>A						CATSPERG_uc002oig.3_Silent_p.A1026A|CATSPERG_uc002oif.3_Silent_p.A706A|CATSPERG_uc010efw.2_RNA	p.A1066A	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			28	3285	+			1066			Extracellular (Potential).		A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.3198C>A	CCDS12514.2																																																																																				0.597	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		13	18	1	0	4.38e-07	8.22e-07	13	18				
ARHGAP35	2909	broad.mit.edu	37	19	47503647	47503647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:47503647G>A	ENST00000404338.3	+	6	4202	c.4202G>A	c.(4201-4203)tGg>tAg	p.W1401*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1401	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										ATCTGCTTCTGGCCCACCTTG	0.542																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(4201-4203)TGG>TAG		glucocorticoid receptor DNA binding factor 1							254.0	268.0	263.0					19																	47503647		2174	4268	6442	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503647G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4202G>A	19.37:g.47503647G>A	ENSP00000385720:p.Trp1401*						p.W1401*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	6	4202	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1401			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.4202G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	43	10.068540	0.99330	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2281	17.3875	0.87421	0.0:0.0:1.0:0.0	.	.	.	.	X	1401	.	ENSP00000324820:W1401X	W	+	2	0	ARHGAP35	52195487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.479000	0.97929	2.643000	0.89663	0.650000	0.86243	TGG		0.542	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		36	241	0	0	0	0	36	241				
LILRB1	10859	broad.mit.edu	37	19	55143396	55143396	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:55143396C>G	ENST00000396331.1	+	6	726	c.369C>G	c.(367-369)atC>atG	p.I123M	LILRB1_ENST00000448689.1_Missense_Mutation_p.I123M|LILRB1_ENST00000434867.2_Missense_Mutation_p.I123M|LILRB1_ENST00000396327.3_Missense_Mutation_p.I123M|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000418536.2_Missense_Mutation_p.I123M|LILRB1_ENST00000396321.2_Missense_Mutation_p.I123M|LILRB1_ENST00000396317.1_Missense_Mutation_p.I123M|LILRB1_ENST00000324602.7_Missense_Mutation_p.I123M|LILRB1_ENST00000396315.1_Missense_Mutation_p.I123M|LILRB1_ENST00000396332.4_Missense_Mutation_p.I123M|LILRB1_ENST00000427581.2_Missense_Mutation_p.I159M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	123	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAGCCTACATCAAACCCACCC	0.582										HNSCC(37;0.09)																												uc002qgj.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(367-369)ATC>ATG		leukocyte immunoglobulin-like receptor,							72.0	75.0	74.0					19																	55143396		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143396C>G	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.369C>G	19.37:g.55143396C>G	ENSP00000379622:p.Ile123Met	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.I123M|LILRB1_uc002qgk.2_Missense_Mutation_p.I123M|LILRB1_uc002qgm.2_Missense_Mutation_p.I123M|LILRB1_uc010erq.2_Missense_Mutation_p.I123M|LILRB1_uc010err.2_RNA	p.I123M	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	709	+			123			Ig-like C2-type 2.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.369C>G	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	3.361	-0.130462	0.06753	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	1.57	-3.14	0.05250	Immunoglobulin-like fold (1);	1.339760	0.04742	N	0.422960	T	0.10594	0.0259	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.001;0.005;0.0;0.0;0.002	T	0.22208	-1.0223	10	0.52906	T	0.07	.	0.6592	0.00840	0.3982:0.2439:0.1977:0.1601	.	123;123;123;123;123	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	M	123;123;123;123;123;123;123;123;159;123;123	ENSP00000379614:I123M;ENSP00000391514:I123M;ENSP00000409968:I123M;ENSP00000379622:I123M;ENSP00000379618:I123M;ENSP00000315997:I123M;ENSP00000405243:I123M;ENSP00000379623:I123M;ENSP00000395004:I159M;ENSP00000379610:I123M;ENSP00000379608:I123M	ENSP00000315997:I123M	I	+	3	3	LILRB1	59835208	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.393000	0.02521	-1.541000	0.01727	0.184000	0.17185	ATC		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			18	101	0	0	0	0	18	101				
NLRP2	55655	broad.mit.edu	37	19	55493571	55493571	+	Missense_Mutation	SNP	C	C	T	rs527958520		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:55493571C>T	ENST00000543010.1	+	6	648	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	NLRP2_ENST00000391721.4_Missense_Mutation_p.R145W|NLRP2_ENST00000448584.2_Missense_Mutation_p.R169W|NLRP2_ENST00000427260.2_Missense_Mutation_p.R146W|NLRP2_ENST00000537859.1_Missense_Mutation_p.R147W|NLRP2_ENST00000263437.6_Missense_Mutation_p.R166W|NLRP2_ENST00000339757.7_Missense_Mutation_p.R147W|NLRP2_ENST00000538819.1_Missense_Mutation_p.R145W	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	169					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACGAAGTTCCGGGAGATGTG	0.483													.|||	1	0.000199681	0.0	0.0	5008	,	,		19601	0.001		0.0	False		,,,				2504	0.0					uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(505-507)CGG>TGG		NLR family, pyrin domain containing 2							173.0	189.0	184.0					19																	55493571		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493571C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.505C>T	19.37:g.55493571C>T	ENSP00000445135:p.Arg169Trp					NLRP2_uc010yfp.1_Missense_Mutation_p.R146W|NLRP2_uc010esn.2_Missense_Mutation_p.R145W|NLRP2_uc010eso.2_Missense_Mutation_p.R166W|NLRP2_uc010esp.2_Missense_Mutation_p.R147W	p.R169W	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	591	+			169					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.505C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	6.281	0.419959	0.11928	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.73;-0.74;-0.84;-0.74;-0.8;-0.73;0.54	2.29	-4.58	0.03410	.	.	.	.	.	T	0.51958	0.1705	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.19935	0.023;0.04;0.023;0.04;0.028	B;B;B;B;B	0.11329	0.003;0.006;0.003;0.006;0.004	T	0.24476	-1.0159	9	0.37606	T	0.19	.	5.0913	0.14710	0.0:0.4211:0.3472:0.2317	.	146;147;166;145;169	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	W	169;145;147;169;147;146;145;166	ENSP00000445135:R169W;ENSP00000375601:R145W;ENSP00000344074:R147W;ENSP00000409370:R169W;ENSP00000440601:R147W;ENSP00000402474:R146W;ENSP00000441133:R145W;ENSP00000263437:R166W	ENSP00000263437:R166W	R	+	1	2	NLRP2	60185383	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.725000	0.01863	-1.542000	0.01725	-0.367000	0.07326	CGG		0.483	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		96	162	0	0	0	0	96	162				
NLRP4	147945	broad.mit.edu	37	19	56370340	56370340	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:56370340A>G	ENST00000301295.6	+	3	2003	c.1581A>G	c.(1579-1581)atA>atG	p.I527M	NLRP4_ENST00000587891.1_Missense_Mutation_p.I452M|NLRP4_ENST00000346986.5_Missense_Mutation_p.I527M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	527					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCAAGAGATAAAGCAGCAAA	0.428																																						uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1579-1581)ATA>ATG		NLR family, pyrin domain containing 4							77.0	82.0	80.0					19																	56370340		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370340A>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1581A>G	19.37:g.56370340A>G	ENSP00000301295:p.Ile527Met					NLRP4_uc002qmf.2_Missense_Mutation_p.I452M|NLRP4_uc010etf.2_Missense_Mutation_p.I358M	p.I527M	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	2003	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	527					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1581A>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135971	0.37728	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.88431	-2.38;-2.38	4.15	-6.33	0.01988	.	.	.	.	.	D	0.90007	0.6880	L	0.56340	1.77	0.09310	N	1	P;D;D	0.69078	0.937;0.997;0.995	P;D;P	0.67725	0.66;0.953;0.89	D	0.84469	0.0598	9	0.56958	D	0.05	.	9.4303	0.38606	0.1996:0.6298:0.1706:0.0	.	527;452;527	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	527	ENSP00000301295:I527M;ENSP00000344787:I527M	ENSP00000301295:I527M	I	+	3	3	NLRP4	61062152	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-1.731000	0.01853	-1.194000	0.02684	-1.756000	0.00673	ATA		0.428	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		15	70	0	0	0	0	15	70				
ZSCAN18	65982	broad.mit.edu	37	19	58596681	58596681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:58596681G>A	ENST00000240727.6	-	7	1303	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.P358S|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.P166S|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.P302S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	302					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCAGCTCAGGCAGCACCCCC	0.741																																						uc002qri.2		NA																	0					0						c.(904-906)CCT>TCT		zinc finger and SCAN domain containing 18							7.0	9.0	9.0					19																	58596681		1691	3529	5220	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596681G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.904C>T	19.37:g.58596681G>A	ENSP00000240727:p.Pro302Ser					ZSCAN18_uc002qrj.3_Missense_Mutation_p.P301S|ZSCAN18_uc010yhs.1_Missense_Mutation_p.P166S|ZSCAN18_uc002qrh.2_Missense_Mutation_p.P302S|ZSCAN18_uc010yht.1_Missense_Mutation_p.P358S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	p.P302S	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1213	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	302					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.904C>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274392	0.23307	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02177	4.64;4.41	3.08	-6.15	0.02105	.	2.878550	0.01955	N	0.042880	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30406	0.183;0.183;0.278;0.183	B;B;B;B	0.21708	0.027;0.036;0.035;0.015	T	0.44937	-0.9295	10	0.09590	T	0.72	9.258	6.7331	0.23395	0.2139:0.2576:0.5284:0.0	.	358;166;301;302	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	S	358;302;166	ENSP00000240727:P302S;ENSP00000392653:P166S	ENSP00000240727:P302S	P	-	1	0	ZSCAN18	63288493	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.219000	0.17641	-1.570000	0.01665	-0.409000	0.06214	CCT		0.741	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		8	10	0	0	0	0	8	10				
MZF1	7593	broad.mit.edu	37	19	59073763	59073763	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:59073763G>A	ENST00000215057.2	-	6	2441	c.1881C>T	c.(1879-1881)tgC>tgT	p.C627C	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Silent_p.C627C	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	627					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGCACTCACCGCAGTGGTAGG	0.672																																						uc002qto.2		NA																	0				ovary(1)	1						c.(1879-1881)TGC>TGT		zinc finger protein 42 isoform 2							33.0	24.0	27.0					19																	59073763		2201	4300	6501	SO:0001819	synonymous_variant	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59073763G>A	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1881C>T	19.37:g.59073763G>A						LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Silent_p.C627C	p.C627C	NM_198055	NP_932172	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	2442	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	627			C2H2-type 10.		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	37	c.1881C>T	CCDS12988.1																																																																																				0.672	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		8	14	0	0	0	0	8	14				
OSR1	130497	broad.mit.edu	37	2	19553023	19553023	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:19553023G>A	ENST00000272223.2	-	2	888	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	OSR1_ENST00000536433.1_Missense_Mutation_p.R182C	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	182					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GTGAAGTGGCGGCCACAGAAC	0.567																																						uc002rdc.2		NA																	0				ovary(1)	1						c.(544-546)CGC>TGC		odd-skipped related 1							120.0	115.0	117.0					2																	19553023		2203	4300	6503	SO:0001583	missense	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19553023G>A	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.544C>T	2.37:g.19553023G>A	ENSP00000272223:p.Arg182Cys						p.R182C	NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN			2	847	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	182			C2H2-type 1.		B3KV97|D6W521	Missense_Mutation	SNP	ENST00000272223.2	37	c.544C>T	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930680	0.73327	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.08102	3.13;3.13	5.68	4.74	0.60224	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	0.26340	0.0643	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.00160	-1.1973	9	.	.	.	-30.0324	11.8651	0.52488	0.0:0.0:0.6728:0.3272	.	182	Q8TAX0	OSR1_HUMAN	C	182	ENSP00000272223:R182C;ENSP00000441801:R182C	.	R	-	1	0	OSR1	19416504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.257000	0.32932	2.685000	0.91497	0.650000	0.86243	CGC		0.567	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		40	66	0	0	0	0	40	66				
OTOF	9381	broad.mit.edu	37	2	26682979	26682979	+	Silent	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:26682979A>G	ENST00000272371.2	-	46	6034	c.5908T>C	c.(5908-5910)Ttg>Ctg	p.L1970L	OTOF_ENST00000338581.6_Silent_p.L1203L|OTOF_ENST00000403946.3_Intron|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000402415.3_Silent_p.L1280L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1970	Poly-Leu.				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)					AGGAGCAGCAACAGTTTGAGG	0.607																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(5908-5910)TTG>CTG		otoferlin isoform a							81.0	62.0	69.0					2																	26682979		2199	4298	6497	SO:0001819	synonymous_variant	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.chr2:26682979A>G	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.5908T>C	2.37:g.26682979A>G						OTOF_uc010yla.1_Intron|OTOF_uc002rhh.2_Silent_p.L1203L|OTOF_uc002rhi.2_Silent_p.L1280L|OTOF_uc002rhj.2_Intron	p.L1970L	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			46	6035	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1970			Poly-Leu.|Helical; (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.5908T>C	CCDS1725.1																																																																																				0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			4	12	0	0	0	0	4	12				
CTNNA2	1496	broad.mit.edu	37	2	80835424	80835424	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:80835424G>T	ENST00000402739.4	+	16	2416	c.2411G>T	c.(2410-2412)gGa>gTa	p.G804V	CTNNA2_ENST00000541047.1_Missense_Mutation_p.G804V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G838V|CTNNA2_ENST00000466387.1_Missense_Mutation_p.G804V|AC008067.2_ENST00000596783.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.G483V|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.G804V|CTNNA2_ENST00000540488.1_Intron|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000599412.2_RNA|AC008067.2_ENST00000430876.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	804					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATCTGGGAGGAGAGCTCATT	0.463																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2410-2412)GGA>GTA		catenin, alpha 2 isoform 1							101.0	97.0	98.0					2																	80835424		1951	4164	6115	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80835424G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2411G>T	2.37:g.80835424G>T	ENSP00000384638:p.Gly804Val					CTNNA2_uc010yse.1_Missense_Mutation_p.G804V|CTNNA2_uc010ysf.1_Missense_Mutation_p.G804V|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Missense_Mutation_p.G436V|CTNNA2_uc010ysj.1_Missense_Mutation_p.G133V	p.G804V	NM_004389	NP_004380	P26232	CTNA2_HUMAN			16	2416	+			804					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2411G>T		.	.	.	.	.	.	.	.	.	.	G	19.28	3.798070	0.70567	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000343114	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.78314	0.962;0.99;0.991	T	0.74987	-0.3476	9	.	.	.	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	436;804;804	F6KRI5;P26232;P26232-2	.;CTNA2_HUMAN;.	V	804;804;838;804;804;483	ENSP00000418191:G804V;ENSP00000419295:G804V;ENSP00000355398:G838V;ENSP00000384638:G804V;ENSP00000444675:G804V;ENSP00000341500:G483V	.	G	+	2	0	CTNNA2	80688935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	GGA		0.463	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		15	30	1	0	2.49e-13	5.09e-13	15	30				
NCKAP5	344148	broad.mit.edu	37	2	133543010	133543010	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:133543010C>A	ENST00000409261.1	-	14	1747	c.1374G>T	c.(1372-1374)ggG>ggT	p.G458G	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.G458G|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	458										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCAGGGGCTCCCCAGGTCAG	0.468																																						uc002ttp.2		NA																	0					0						c.(1372-1374)GGG>GGT		Nck-associated protein 5 isoform 1							54.0	53.0	54.0					2																	133543010		1873	4102	5975	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133543010C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1374G>T	2.37:g.133543010C>A						NCKAP5_uc002ttq.2_Intron	p.G458G	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	1748	-			458					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.1374G>T	CCDS46418.1																																																																																				0.468	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		8	44	1	0	1.26e-09	2.44e-09	8	44				
PKP4	8502	broad.mit.edu	37	2	159530275	159530275	+	Splice_Site	SNP	T	T	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:159530275T>G	ENST00000389759.3	+	18	3121		c.e18+2		AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Splice_Site	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4						cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TATAAAAAGGTAACCTACAAG	0.388										HNSCC(62;0.18)																												uc002tzv.2		NA																	0				ovary(5)|skin(2)	7						c.e18+2		plakophilin 4 isoform a							72.0	71.0	71.0					2																	159530275		2203	4300	6503	SO:0001630	splice_region_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159530275T>G	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3009+2T>G	2.37:g.159530275T>G		HNSCC(62;0.18)				PKP4_uc002tzw.2_Splice_Site_p.K1003_splice|PKP4_uc002tzx.2_Splice_Site_p.K660_splice|PKP4_uc002uaa.2_Splice_Site_p.K855_splice|uc002uab.1_Intron|PKP4_uc002uac.2_Splice_Site_p.K184_splice|PKP4_uc002uad.2_Splice_Site|PKP4_uc002uae.1_Splice_Site_p.K90_splice	p.K1003_splice	NM_003628	NP_003619	Q99569	PKP4_HUMAN			18	3269	+								Q86W91	Splice_Site	SNP	ENST00000389759.3	37	c.3009_splice	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477165	0.84640	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.868	0.79080	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKP4	159238521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.220000	0.72140	0.533000	0.62120	.		0.388	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		Intron	19	34	0	0	0	0	19	34				
TANK	10010	broad.mit.edu	37	2	162087916	162087916	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:162087916A>G	ENST00000392749.2	+	7	1194	c.955A>G	c.(955-957)Atc>Gtc	p.I319V	TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Missense_Mutation_p.I319V|TANK_ENST00000405852.1_Missense_Mutation_p.I319V|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	319					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AAACACTTGTATCAGGACAAC	0.403																																						uc002ubr.1		NA																	0				ovary(1)	1						c.(955-957)ATC>GTC		TRAF interacting protein TANK isoform a							89.0	88.0	89.0					2																	162087916		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162087916A>G	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.955A>G	2.37:g.162087916A>G	ENSP00000376505:p.Ile319Val					TANK_uc002ubs.2_Missense_Mutation_p.I319V	p.I319V	NM_004180	NP_004171	Q92844	TANK_HUMAN			7	1113	+			319					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.955A>G	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	A	8.480	0.859475	0.17178	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623;ENST00000439442	T;T;T;T;T	0.34072	1.84;1.84;1.38;1.38;1.76	4.95	1.15	0.20763	.	0.302701	0.28301	N	0.015851	T	0.23766	0.0575	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04976	-1.0914	10	0.59425	D	0.04	-0.3475	8.1718	0.31260	0.6791:0.0:0.3209:0.0	.	319	Q92844	TANK_HUMAN	V	319;319;319;210;74	ENSP00000259075:I319V;ENSP00000376505:I319V;ENSP00000385487:I319V;ENSP00000412556:I210V;ENSP00000387439:I74V	ENSP00000259075:I319V	I	+	1	0	TANK	161796162	0.995000	0.38212	0.998000	0.56505	0.951000	0.60555	0.493000	0.22451	0.022000	0.15160	0.482000	0.46254	ATC		0.403	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		19	57	0	0	0	0	19	57				
TTN	7273	broad.mit.edu	37	2	179428334	179428334	+	Silent	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:179428334G>T	ENST00000591111.1	-	276	77826	c.77602C>A	c.(77602-77604)Cga>Aga	p.R25868R	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.R24941R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.R18569R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.R18636R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Silent_p.R27509R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.R18444R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25868	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTATCTCGTTTTTCAAGA	0.463																																						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.(74821-74823)CGA>AGA		titin isoform N2-A							124.0	122.0	123.0					2																	179428334		1974	4159	6133	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428334G>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.77602C>A	2.37:g.179428334G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R18636R|TTN_uc010zfi.1_Silent_p.R18569R|TTN_uc010zfj.1_Silent_p.R18444R	p.R24941R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	75045	-			25868					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.74821C>A																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	129	1	0	1e-27	2.14e-27	43	129				
TTN	7273	broad.mit.edu	37	2	179612977	179612977	+	Intron	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:179612977G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.T4717I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAAGATCAGTTTTTAAAAT	0.328																																						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14149-14151)ACT>ATT		titin isoform novex-3							54.0	57.0	56.0					2																	179612977		2197	4294	6491	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612977G>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.10360+4873C>T	2.37:g.179612977G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.T4717I	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14374	-			826					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.14150C>T		.	.	.	.	.	.	.	.	.	.	G	18.77	3.695392	0.68386	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.61158	0.13	6.05	4.23	0.50019	.	.	.	.	.	T	0.52370	0.1730	L	0.50333	1.59	0.09310	N	0.999995	B	0.27416	0.178	B	0.33521	0.165	T	0.50734	-0.8793	9	0.54805	T	0.06	.	6.7928	0.23709	0.0683:0.1275:0.6718:0.1324	.	4717	Q8WZ42-6	.	I	4717;31	ENSP00000354117:T4717I	ENSP00000304714:T31I	T	-	2	0	TTN	179321222	0.000000	0.05858	0.001000	0.08648	0.486000	0.33341	0.101000	0.15251	0.862000	0.35528	0.650000	0.86243	ACT		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	53	0	0	0	0	12	53				
ASNSD1	54529	broad.mit.edu	37	2	190530996	190530996	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr2:190530996G>T	ENST00000260952.4	+	4	551	c.138G>T	c.(136-138)caG>caT	p.Q46H	ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607062.1_Intron|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607535.1_3'UTR	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	46	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTAACTACCAGTGTTTATTTT	0.378																																						uc002uqt.2		NA																	0				ovary(2)|skin(1)	3						c.(136-138)CAG>CAT		asparagine synthetase domain containing 1							145.0	144.0	144.0					2																	190530996		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190530996G>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.138G>T	2.37:g.190530996G>T	ENSP00000260952:p.Gln46His						p.Q46H	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	572	+			46			Glutamine amidotransferase type-2.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.138G>T	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	9.345	1.064059	0.20067	.	.	ENSG00000138381	ENST00000260952;ENST00000425590;ENST00000420250	T;T	0.30182	1.54;1.54	5.76	3.87	0.44632	Glutamine amidotransferase, type II (1);	0.812248	0.12271	N	0.483814	T	0.15046	0.0363	N	0.11023	0.085	0.35837	D	0.825754	B	0.06786	0.001	B	0.06405	0.002	T	0.18147	-1.0346	10	0.34782	T	0.22	-6.6458	5.5204	0.16929	0.0748:0.1058:0.5756:0.2437	.	46	Q9NWL6	ASND1_HUMAN	H	46	ENSP00000260952:Q46H;ENSP00000406790:Q46H	ENSP00000260952:Q46H	Q	+	3	2	ASNSD1	190239241	0.427000	0.25514	1.000000	0.80357	0.911000	0.54048	0.241000	0.18065	2.880000	0.98712	0.650000	0.86243	CAG		0.378	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		32	85	1	0	8.17e-17	1.71e-16	32	85				
MMP24	10893	broad.mit.edu	37	20	33855127	33855127	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr20:33855127G>A	ENST00000246186.6	+	6	1184	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	367					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GCCGCCCCTCGGGGACCGGCC	0.637																																						uc002xbu.2		NA																	0					0						c.(1099-1101)GGG>AGG		matrix metalloproteinase 24 preproprotein							21.0	26.0	25.0					20																	33855127		1932	4126	6058	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33855127G>A	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1099G>A	20.37:g.33855127G>A	ENSP00000246186:p.Gly367Arg					EDEM2_uc010zuv.1_Intron	p.G367R	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		6	1102	+			367			Extracellular (Potential).		B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.1099G>A	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589234	0.46110	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.15952	2.38	4.55	4.55	0.56014	.	0.054465	0.64402	D	0.000001	T	0.12347	0.0300	L	0.35341	1.055	0.58432	D	0.999997	B	0.29835	0.258	B	0.15870	0.014	T	0.10177	-1.0641	10	0.13108	T	0.6	.	16.4667	0.84081	0.0:0.0:1.0:0.0	.	367	Q9Y5R2	MMP24_HUMAN	R	367;315	ENSP00000246186:G367R	ENSP00000246186:G367R	G	+	1	0	MMP24	33318541	1.000000	0.71417	0.940000	0.37924	0.975000	0.68041	3.156000	0.50708	2.369000	0.80426	0.563000	0.77884	GGG		0.637	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		4	12	0	0	0	0	4	12				
RBM11	54033	broad.mit.edu	37	21	15599316	15599316	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599316G>C	ENST00000400577.3	+	5	557	c.548G>C	c.(547-549)gGa>gCa	p.G183A	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	183					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTGAGGCTGGACCCAGCTCA	0.463																																						uc002yjo.3		NA																	0					0						c.(547-549)GGA>GCA		RNA binding motif protein 11							202.0	192.0	195.0					21																	15599316		1946	4138	6084	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15599316G>C	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.548G>C	21.37:g.15599316G>C	ENSP00000383421:p.Gly183Ala					RBM11_uc002yjn.3_Missense_Mutation_p.G69A|RBM11_uc002yjp.3_Missense_Mutation_p.G69A	p.G183A	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	590	+			183					Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.548G>C	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	5.782	0.328545	0.10956	.	.	ENSG00000185272	ENST00000400577	T	0.08807	3.05	2.19	2.19	0.27852	.	0.000000	0.64402	D	0.000001	T	0.18718	0.0449	M	0.66939	2.045	0.29290	N	0.869397	D	0.67145	0.996	D	0.68943	0.961	T	0.04427	-1.0952	10	0.11485	T	0.65	.	9.9025	0.41355	0.0:0.0:1.0:0.0	.	183	P57052	RBM11_HUMAN	A	183	ENSP00000383421:G183A	ENSP00000383421:G183A	G	+	2	0	RBM11	14521187	1.000000	0.71417	0.998000	0.56505	0.704000	0.40688	1.017000	0.29989	1.516000	0.48900	0.195000	0.17529	GGA		0.463	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		5	303	0	0	0	0	5	303				
RBM11	54033	broad.mit.edu	37	21	15599442	15599442	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599442G>C	ENST00000400577.3	+	5	683	c.674G>C	c.(673-675)gGa>gCa	p.G225A	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	225					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTGAGGCTGGACCCAGCTCA	0.423																																						uc002yjo.3		NA																	0					0						c.(673-675)GGA>GCA		RNA binding motif protein 11							185.0	177.0	180.0					21																	15599442		1921	4123	6044	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15599442G>C	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.674G>C	21.37:g.15599442G>C	ENSP00000383421:p.Gly225Ala					RBM11_uc002yjn.3_Missense_Mutation_p.G111A|RBM11_uc002yjp.3_Missense_Mutation_p.G111A	p.G225A	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	716	+			225					Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.674G>C	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557513	0.65425	.	.	ENSG00000185272	ENST00000400577	T	0.09817	2.94	4.72	4.72	0.59763	.	.	.	.	.	T	0.13372	0.0324	N	0.14661	0.345	0.31527	N	0.661683	D	0.76494	0.999	D	0.64237	0.923	T	0.02326	-1.1176	9	0.12430	T	0.62	-22.9272	11.6951	0.51538	0.0893:0.0:0.9107:0.0	.	225	P57052	RBM11_HUMAN	A	225	ENSP00000383421:G225A	ENSP00000383421:G225A	G	+	2	0	RBM11	14521313	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.116000	0.64661	2.549000	0.85964	0.650000	0.86243	GGA		0.423	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		42	229	0	0	0	0	42	229				
RBM11	54033	broad.mit.edu	37	21	15599531	15599531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599531G>A	ENST00000400577.3	+	5	772	c.763G>A	c.(763-765)Gat>Aat	p.D255N	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	255					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GCAAACAAGTGATAGTGATAG	0.388																																						uc002yjo.3		NA																	0					0						c.(763-765)GAT>AAT		RNA binding motif protein 11							178.0	174.0	175.0					21																	15599531		1956	4149	6105	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15599531G>A	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.763G>A	21.37:g.15599531G>A	ENSP00000383421:p.Asp255Asn					RBM11_uc002yjn.3_Missense_Mutation_p.D141N|RBM11_uc002yjp.3_Missense_Mutation_p.D141N	p.D255N	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	805	+			255					Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.763G>A	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770124	0.90108	.	.	ENSG00000185272	ENST00000400577	T	0.14266	2.52	4.99	4.99	0.66335	.	0.071700	0.56097	D	0.000029	T	0.31167	0.0788	L	0.60455	1.87	0.43835	D	0.996413	D	0.69078	0.997	P	0.61397	0.888	T	0.00482	-1.1713	10	0.37606	T	0.19	-25.1079	17.7069	0.88311	0.0:0.0:1.0:0.0	.	255	P57052	RBM11_HUMAN	N	255	ENSP00000383421:D255N	ENSP00000383421:D255N	D	+	1	0	RBM11	14521402	1.000000	0.71417	0.987000	0.45799	0.955000	0.61496	5.595000	0.67563	2.699000	0.92147	0.650000	0.86243	GAT		0.388	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		22	130	0	0	0	0	22	130				
RBM11	54033	broad.mit.edu	37	21	15599567	15599567	+	Nonsense_Mutation	SNP	G	G	T	rs61733445		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599567G>T	ENST00000400577.3	+	5	808	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	267					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CAGAGGCAACGAATGTAGCCA	0.358																																						uc002yjo.3		NA																	0					0						c.(799-801)GAA>TAA		RNA binding motif protein 11							120.0	119.0	119.0					21																	15599567		1907	4129	6036	SO:0001587	stop_gained	54033						nucleotide binding|RNA binding	g.chr21:15599567G>T	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.799G>T	21.37:g.15599567G>T	ENSP00000383421:p.Glu267*					RBM11_uc002yjn.3_Nonsense_Mutation_p.E153*|RBM11_uc002yjp.3_Nonsense_Mutation_p.E153*	p.E267*	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	841	+			267					Q6YNC2|Q8NBA1|Q8NFF6	Nonsense_Mutation	SNP	ENST00000400577.3	37	c.799G>T	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796758	0.50208	.	.	ENSG00000185272	ENST00000400577	.	.	.	4.89	4.01	0.46588	.	0.235727	0.36200	N	0.002722	.	.	.	.	.	.	0.53005	D	0.999967	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.1643	12.5445	0.56190	0.0837:0.0:0.9163:0.0	.	.	.	.	X	267	.	ENSP00000383421:E267X	E	+	1	0	RBM11	14521438	1.000000	0.71417	0.729000	0.30791	0.254000	0.26022	3.023000	0.49666	1.379000	0.46325	0.650000	0.86243	GAA		0.358	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		15	86	1	0	2.99e-18	6.26e-18	15	86				
RBM11	54033	broad.mit.edu	37	21	15599599	15599599	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:15599599G>A	ENST00000400577.3	+	5	840	c.831G>A	c.(829-831)aaG>aaA	p.K277K	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	277					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGTCTAAGAAGAAGAAAAGAT	0.328																																						uc002yjo.3		NA																	0					0						c.(829-831)AAG>AAA		RNA binding motif protein 11							80.0	80.0	80.0					21																	15599599		1877	4111	5988	SO:0001819	synonymous_variant	54033						nucleotide binding|RNA binding	g.chr21:15599599G>A	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.831G>A	21.37:g.15599599G>A						RBM11_uc002yjn.3_Silent_p.K163K|RBM11_uc002yjp.3_Silent_p.K163K	p.K277K	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	873	+			277					Q6YNC2|Q8NBA1|Q8NFF6	Silent	SNP	ENST00000400577.3	37	c.831G>A	CCDS46635.1																																																																																				0.328	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		12	62	0	0	0	0	12	62				
KRTAP13-2	337959	broad.mit.edu	37	21	31744390	31744390	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr21:31744390G>T	ENST00000399889.2	-	1	167	c.142C>A	c.(142-144)Ctg>Atg	p.L48M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	48	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GAGGAACCCAGCTGGCAGGTG	0.602																																						uc002ynz.3		NA																	0					0						c.(142-144)CTG>ATG		keratin associated protein 13-2							69.0	68.0	68.0					21																	31744390		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744390G>T	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.142C>A	21.37:g.31744390G>T	ENSP00000382777:p.Leu48Met						p.L48M	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	168	-			48			1.|5 X 10 AA approximate repeats.			Missense_Mutation	SNP	ENST00000399889.2	37	c.142C>A	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010027	0.54361	.	.	ENSG00000182816	ENST00000399889	T	0.03635	3.86	4.32	2.44	0.29823	.	0.543554	0.13924	N	0.353367	T	0.17066	0.0410	M	0.85462	2.755	0.20403	N	0.999906	D	0.61697	0.99	D	0.64506	0.926	T	0.03597	-1.1021	10	0.45353	T	0.12	.	11.1794	0.48618	0.0:0.3588:0.6411:0.0	.	48	Q52LG2	KR132_HUMAN	M	48	ENSP00000382777:L48M	ENSP00000382777:L48M	L	-	1	2	KRTAP13-2	30666261	0.070000	0.21116	0.905000	0.35620	0.953000	0.61014	1.423000	0.34837	0.483000	0.27608	0.655000	0.94253	CTG		0.602	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			25	72	1	0	1.64e-13	3.39e-13	25	72				
CELSR1	9620	broad.mit.edu	37	22	46860111	46860111	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr22:46860111G>A	ENST00000262738.3	-	2	3675	c.3676C>T	c.(3676-3678)Ctc>Ttc	p.L1226F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L1226F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1226					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCACGAAGAGGGCCAGCAGC	0.602																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(3676-3678)CTC>TTC		cadherin EGF LAG seven-pass G-type receptor 1							78.0	68.0	72.0					22																	46860111		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46860111G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3676C>T	22.37:g.46860111G>A	ENSP00000262738:p.Leu1226Phe						p.L1226F	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	3676	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1226			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3676C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223717	0.22457	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.68903	-0.36;-0.07	4.75	4.75	0.60458	.	0.197078	0.33309	U	0.005057	T	0.62575	0.2439	N	0.24115	0.695	0.44275	D	0.997132	P	0.48016	0.904	P	0.52710	0.707	T	0.57118	-0.7866	10	0.09843	T	0.71	.	17.3678	0.87368	0.0:0.0:1.0:0.0	.	1226	Q9NYQ6	CELR1_HUMAN	F	1226	ENSP00000262738:L1226F;ENSP00000379293:L1226F	ENSP00000262738:L1226F	L	-	1	0	CELSR1	45238775	1.000000	0.71417	0.974000	0.42286	0.587000	0.36485	7.214000	0.77958	2.181000	0.69327	0.655000	0.94253	CTC		0.602	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		12	39	0	0	0	0	12	39				
ZBED4	9889	broad.mit.edu	37	22	50279257	50279257	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr22:50279257C>T	ENST00000216268.5	+	2	2424	c.1947C>T	c.(1945-1947)taC>taT	p.Y649Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	649						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGAAGTTTTACGATTCTCACC	0.493																																						uc003bix.2		NA																	0				ovary(2)	2						c.(1945-1947)TAC>TAT		zinc finger, BED-type containing 4							55.0	60.0	59.0					22																	50279257		2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279257C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1947C>T	22.37:g.50279257C>T							p.Y649Y	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2417	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	649					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.1947C>T	CCDS33677.1																																																																																				0.493	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		16	48	0	0	0	0	16	48				
SHANK3	85358	broad.mit.edu	37	22	51137137	51137137	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr22:51137137C>T	ENST00000414786.2	+	12	1703	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SHANK3_ENST00000445220.2_Silent_p.G507G|SHANK3_ENST00000262795.3_Silent_p.G522G			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	506	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TTGGGGAGGGCGGTTTCTGGG	0.652																																						uc003bne.1		NA																	0				central_nervous_system(1)	1						c.(1564-1566)GGC>GGT		SH3 and multiple ankyrin repeat domains 3							35.0	41.0	39.0					22																	51137137		2021	4170	6191	SO:0001819	synonymous_variant	85358							g.chr22:51137137C>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1476C>T	22.37:g.51137137C>T						SHANK3_uc003bnf.1_5'UTR	p.G522G	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	13	1566	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	522					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.1566C>T																																																																																					0.652	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		8	25	0	0	0	0	8	25				
ARPP21	10777	broad.mit.edu	37	3	35732493	35732493	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:35732493A>T	ENST00000187397.4	+	9	1138	c.682A>T	c.(682-684)Aga>Tga	p.R228*	ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R228*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R228*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R228*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R228*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	228	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				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						CAGCAGCACCAGAATGTAAGC	0.368																																						uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(682-684)AGA>TGA		cyclic AMP-regulated phosphoprotein, 21 kD							158.0	147.0	151.0					3																	35732493		2203	4300	6503	SO:0001587	stop_gained	10777					cytoplasm	nucleic acid binding	g.chr3:35732493A>T	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.682A>T	3.37:g.35732493A>T	ENSP00000187397:p.Arg228*					ARPP21_uc003cga.2_Nonsense_Mutation_p.R228*|ARPP21_uc011axy.1_Nonsense_Mutation_p.R228*|ARPP21_uc003cgf.2_Nonsense_Mutation_p.R64*	p.R228*	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			9	946	+			228					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	ENST00000187397.4	37	c.682A>T	CCDS2661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	38|38	6.958079|6.958079	0.97964|0.97964	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000425289|ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32406|.	0.0828|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36383|.	-0.9750|.	3|.	.|0.02654	.|T	.|1	-21.2274|-21.2274	12.1139|12.1139	0.53854|0.53854	0.8569:0.1431:0.0:0.0|0.8569:0.1431:0.0:0.0	.|.	.|.	.|.	.|.	L|X	69|228	.|.	.|ENSP00000187397:R228X	Q|R	+|+	2|1	0|2	ARPP21|ARPP21	35707497|35707497	0.973000|0.973000	0.33851|0.33851	0.999000|0.999000	0.59377|0.59377	0.929000|0.929000	0.56500|0.56500	2.542000|2.542000	0.45744|0.45744	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.368	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		9	68	0	0	0	0	9	68				
CX3CR1	1524	broad.mit.edu	37	3	39306963	39306963	+	Silent	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:39306963C>G	ENST00000541347.1	-	2	1277	c.1038G>C	c.(1036-1038)acG>acC	p.T346T	CX3CR1_ENST00000542107.1_Silent_p.T346T|CX3CR1_ENST00000399220.2_Silent_p.T346T|CX3CR1_ENST00000358309.3_Silent_p.T378T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	346					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTCCATCACTCGTGTGGTAAG	0.488																																						uc003cjl.2		NA																	0				lung(3)	3						c.(1036-1038)ACG>ACC		chemokine (C-X3-C motif) receptor 1							157.0	149.0	152.0					3																	39306963		1962	4160	6122	SO:0001819	synonymous_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39306963C>G	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.1038G>C	3.37:g.39306963C>G							p.T346T	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	1130	-			346			Cytoplasmic (Potential).		A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	c.1038G>C	CCDS43069.1																																																																																				0.488	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		43	84	0	0	0	0	43	84				
ABHD14A	25864	broad.mit.edu	37	3	52012073	52012073	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:52012073G>T	ENST00000273596.3	+	2	324	c.256G>T	c.(256-258)Gtg>Ttg	p.V86L	ACY1_ENST00000458031.2_Missense_Mutation_p.R37S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.V86L|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Missense_Mutation_p.V86L	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	86						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTACCGCGAGGTGCTCCCACT	0.617																																						uc011bea.1		NA																	0				breast(1)|skin(1)	2						c.(109-111)AGG>AGT		aminoacylase 1	L-Aspartic Acid(DB00128)						33.0	29.0	30.0					3																	52012073		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52012073G>T	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.256G>T	3.37:g.52012073G>T	ENSP00000273596:p.Val86Leu					ABHD14B_uc003dcn.2_Intron|ABHD14A_uc010hlz.2_Missense_Mutation_p.V86L|ABHD14A_uc003dco.2_Missense_Mutation_p.V86L	p.R37S	NM_000666	NP_000657	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	366	+			Error:Variant_position_missing_in_Q03154_after_alignment					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.111G>T	CCDS2843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.173288|5.173288	0.94807|0.94807	.|.	.|.	ENSG00000114786|ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000248487;ENSG00000114786	ENST00000458031|ENST00000497864;ENST00000494478;ENST00000273596;ENST00000360889;ENST00000452452;ENST00000538216;ENST00000491470;ENST00000463937	T|T;T;T;T;T	0.76316|0.65732	-1.01|1.36;1.41;1.37;1.03;-0.17	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.209202	.|0.39341	.|N	.|0.001382	T|T	0.62612|0.62612	0.2442|0.2442	L|L	0.53249|0.53249	1.67|1.67	0.25239|0.25239	N|N	0.989766|0.989766	D|P;P	0.56521|0.45078	0.976|0.598;0.85	P|B;B	0.54815|0.44278	0.761|0.098;0.445	T|T	0.60642|0.60642	-0.7223|-0.7223	9|10	0.87932|0.38643	D|T	0|0.18	-13.7722|-13.7722	15.854|15.854	0.78960|0.78960	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	37|86;86	B4DNW0|C9JMV9;Q9BUJ0	.|.;ABHEA_HUMAN	S|L	37|151;81;86;42;42;42;86;86	ENSP00000390557:R37S|ENSP00000418242:V151L;ENSP00000420475:V81L;ENSP00000273596:V86L;ENSP00000418824:V86L;ENSP00000420487:V86L	ENSP00000390557:R37S|ENSP00000273596:V86L	R|V	+|+	3|1	2|0	RP11-155D18.11|RP11-155D18.11;ABHD14A	51987113|51987113	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.950000|0.950000	0.60333|0.60333	5.719000|5.719000	0.68462|0.68462	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	AGG|GTG		0.617	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		6	13	1	0	0.00198382	0.00339741	6	13				
OR5H2	79310	broad.mit.edu	37	3	98001793	98001793	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:98001793G>T	ENST00000355273.2	+	1	62	c.62G>T	c.(61-63)gGa>gTa	p.G21V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G21E(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTTCTCACAGGACTTACATAT	0.413																																						uc003dsj.1		NA																	1	Substitution - Missense(1)	p.G21E(1)	ovary(1)	ovary(3)	3						c.(61-63)GGA>GTA		olfactory receptor, family 5, subfamily H,							243.0	230.0	234.0					3																	98001793		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001793G>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.62G>T	3.37:g.98001793G>T	ENSP00000347418:p.Gly21Val						p.G21V	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	62	+			21			Extracellular (Potential).		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.62G>T	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152208	0.57259	.	.	ENSG00000197938	ENST00000355273	T	0.00659	5.94	3.2	3.2	0.36748	.	0.000000	0.38897	U	0.001522	T	0.06142	0.0159	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01945	-1.1242	10	0.87932	D	0	.	12.205	0.54346	0.0:0.0:1.0:0.0	.	21	Q8NGV7	OR5H2_HUMAN	V	21	ENSP00000347418:G21V	ENSP00000347418:G21V	G	+	2	0	OR5H2	99484483	1.000000	0.71417	0.994000	0.49952	0.656000	0.38851	7.904000	0.87408	1.787000	0.52448	0.543000	0.68304	GGA		0.413	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			40	172	1	0	9.39e-22	1.99e-21	40	172				
MYH15	22989	broad.mit.edu	37	3	108211974	108211974	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:108211974C>A	ENST00000273353.3	-	9	878	c.822G>T	c.(820-822)gtG>gtT	p.V274V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	274	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TATCAATGTCCACAGATGACA	0.433																																						uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(820-822)GTG>GTT		myosin, heavy polypeptide 15							96.0	95.0	96.0					3																	108211974		2035	4187	6222	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108211974C>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.822G>T	3.37:g.108211974C>A							p.V274V	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			9	879	-			274			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.822G>T	CCDS43127.1																																																																																				0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		8	49	1	0	5.18e-06	9.44e-06	8	49				
ARGFX	503582	broad.mit.edu	37	3	121304883	121304883	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:121304883C>A	ENST00000334384.3	+	4	394	c.384C>A	c.(382-384)aaC>aaA	p.N128K		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GGTTCAGGAACCGGCGATTCA	0.502																																						uc003eef.2		NA																	0				skin(2)|ovary(1)	3						c.(382-384)AAC>AAA		arginine-fifty homeobox							61.0	62.0	62.0					3																	121304883		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121304883C>A		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.384C>A	3.37:g.121304883C>A	ENSP00000335578:p.Asn128Lys						p.N128K	NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	5	479	+			128			Homeobox.			Missense_Mutation	SNP	ENST00000334384.3	37	c.384C>A	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786168	0.70337	.	.	ENSG00000186103	ENST00000334384	D	0.99382	-5.8	3.78	0.997	0.19851	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.47455	D	0.000233	D	0.99306	0.9757	M	0.90870	3.155	0.20638	N	0.999876	D	0.89917	1.0	D	0.87578	0.998	D	0.97143	0.9826	10	0.87932	D	0	-18.1874	6.8411	0.23963	0.0:0.7297:0.0:0.2703	.	128	A6NJG6	ARGFX_HUMAN	K	128	ENSP00000335578:N128K	ENSP00000335578:N128K	N	+	3	2	ARGFX	122787573	0.048000	0.20356	0.269000	0.24586	0.898000	0.52572	-0.075000	0.11431	0.205000	0.20568	0.561000	0.74099	AAC		0.502	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		8	57	1	0	0.000274275	0.000483734	8	57				
SLC15A2	6565	broad.mit.edu	37	3	121643791	121643791	+	Splice_Site	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:121643791G>T	ENST00000489711.1	+	13	1423		c.e13-1		SLC15A2_ENST00000295605.2_Splice_Site|AC072031.1_ENST00000581491.1_RNA	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2						drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGGTGTTACAGGTTCTAAATC	0.393																																						uc003eep.2		NA																	0				skin(1)	1						c.e13-1		peptide transporter 2 isoform a	Cefadroxil(DB01140)						329.0	330.0	329.0					3																	121643791		2202	4300	6502	SO:0001630	splice_region_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121643791G>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1036-1G>T	3.37:g.121643791G>T						SLC15A2_uc011bjn.1_Splice_Site_p.V315_splice	p.V346_splice	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	13	1189	+								A8K1A5|B4E2A7	Splice_Site	SNP	ENST00000489711.1	37	c.1036_splice	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912756	0.92178	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8962	0.88888	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC15A2	123126481	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.406000	0.90216	2.827000	0.97445	0.650000	0.86243	.		0.393	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	Intron	30	171	1	0	7.01e-11	1.39e-10	30	171				
SLC7A14	57709	broad.mit.edu	37	3	170219002	170219002	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:170219002C>G	ENST00000231706.5	-	3	752	c.437G>C	c.(436-438)gGc>gCc	p.G146A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	146					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCCGCAGTGCCAATCAGGTA	0.557																																						uc003fgz.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(436-438)GGC>GCC		solute carrier family 7 (cationic amino acid							73.0	66.0	69.0					3																	170219002		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170219002C>G	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.437G>C	3.37:g.170219002C>G	ENSP00000231706:p.Gly146Ala					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.G146A	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		3	753	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		146					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.437G>C	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082378	0.94050	.	.	ENSG00000013293	ENST00000231706	D	0.90261	-2.64	5.26	5.26	0.73747	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93135	0.7814	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93263	0.6645	10	0.52906	T	0.07	.	19.2201	0.93793	0.0:1.0:0.0:0.0	.	146	Q8TBB6	S7A14_HUMAN	A	146	ENSP00000231706:G146A	ENSP00000231706:G146A	G	-	2	0	SLC7A14	171701696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	2.609000	0.88269	0.561000	0.74099	GGC		0.557	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		8	36	0	0	0	0	8	36				
PIK3CA	5290	broad.mit.edu	37	3	178948136	178948136	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr3:178948136G>A	ENST00000263967.3	+	20	3065	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	970	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E970K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGGAGCCCAAGAATGCACAAA	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		4	Substitution - Missense(4)	p.E970K(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(2908-2910)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							74.0	73.0	73.0					3																	178948136		1810	4078	5888	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178948136G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2908G>A	3.37:g.178948136G>A	ENSP00000263967:p.Glu970Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E970K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3065	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		970			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2908G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857176	0.32791	.	.	ENSG00000121879	ENST00000263967	D	0.83163	-1.69	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.790110	0.11564	N	0.551400	T	0.73202	0.3557	N	0.20304	0.555	0.80722	D	1	P	0.45428	0.858	B	0.41764	0.366	T	0.70099	-0.4965	10	0.02654	T	1	-19.3479	18.6208	0.91321	0.0:0.0:1.0:0.0	.	970	P42336	PK3CA_HUMAN	K	970	ENSP00000263967:E970K	ENSP00000263967:E970K	E	+	1	0	PIK3CA	180430830	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.311000	0.96282	2.459000	0.83118	0.585000	0.79938	GAA		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			32	55	0	0	0	0	32	55				
ZNF141	7700	broad.mit.edu	37	4	367208	367208	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:367208A>G	ENST00000240499.7	+	4	1131	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	328					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AACCCTTACTAAACATAAGAG	0.378																																						uc003gaa.2		NA																	0					0						c.(982-984)AAA>GAA		zinc finger protein 141							52.0	58.0	56.0					4																	367208		2201	4295	6496	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367208A>G	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.982A>G	4.37:g.367208A>G	ENSP00000240499:p.Lys328Glu					ZNF141_uc003gab.2_Intron	p.K328E	NM_003441	NP_003432	Q15928	ZN141_HUMAN			5	1160	+			328			C2H2-type 6.		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.982A>G	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	9.704	1.155392	0.21454	.	.	ENSG00000131127	ENST00000240499	T	0.06687	3.27	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	N	0.10618	0.005	0.09310	N	1	B	0.20368	0.044	B	0.21917	0.037	T	0.46898	-0.9158	8	.	.	.	.	3.2797	0.06911	0.6291:0.0:0.0:0.3709	.	328	Q15928	ZN141_HUMAN	E	328	ENSP00000240499:K328E	.	K	+	1	0	ZNF141	357208	0.000000	0.05858	0.664000	0.29753	0.982000	0.71751	-4.940000	0.00168	0.495000	0.27882	0.260000	0.18958	AAA		0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		29	65	0	0	0	0	29	65				
HTT	3064	broad.mit.edu	37	4	3134446	3134446	+	Splice_Site	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:3134446A>T	ENST00000355072.5	+	17	2539	c.2394A>T	c.(2392-2394)acA>acT	p.T798T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	798					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAACCCTCACAGGTAACGGCC	0.468																																						uc011bvq.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(2398-2400)ACA>ACT		huntingtin							175.0	166.0	169.0					4																	3134446		1922	4143	6065	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3134446A>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2395+1A>T	4.37:g.3134446A>T							p.T800T	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	18	2545	+		all_epithelial(65;0.18)	798					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.2400A>T	CCDS43206.1																																																																																				0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	Silent	44	106	0	0	0	0	44	106				
ADRA2C	152	broad.mit.edu	37	4	3768967	3768967	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:3768967C>T	ENST00000330055.5	+	1	843	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	ADRA2C_ENST00000509482.1_Silent_p.L212L	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	212					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGGTACATCCTGTCCTCCTG	0.682																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.2		NA																	0					0						c.(634-636)CTG>TTG		alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						20.0	21.0	20.0					4																	3768967		2196	4289	6485	SO:0001819	synonymous_variant	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768967C>T	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.634C>T	4.37:g.3768967C>T						ADRA2C_uc010icx.2_Silent_p.L212L	p.L212L	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	672	+			212			Helical; Name=5; (By similarity).		P35369|Q9HB49	Silent	SNP	ENST00000330055.5	37	c.634C>T	CCDS47004.1																																																																																				0.682	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		7	18	0	0	0	0	7	18				
BOD1L1	259282	broad.mit.edu	37	4	13602037	13602037	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:13602037T>G	ENST00000040738.5	-	10	6622	c.6487A>C	c.(6487-6489)Aag>Cag	p.K2163Q		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2163						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCAGCACACTTGATGGTTGTT	0.507																																						uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(6487-6489)AAG>CAG		biorientation of chromosomes in cell division							89.0	77.0	81.0					4																	13602037		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602037T>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6487A>C	4.37:g.13602037T>G	ENSP00000040738:p.Lys2163Gln					BOD1L_uc010idr.1_Missense_Mutation_p.K1500Q	p.K2163Q	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	6604	-			2163					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6487A>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	4.994	0.184606	0.09495	.	.	ENSG00000038219	ENST00000040738	T	0.06687	3.27	5.26	-2.05	0.07321	.	1.383220	0.04587	N	0.395991	T	0.05181	0.0138	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.41928	-0.9481	10	0.12103	T	0.63	-1.7023	5.4286	0.16440	0.0:0.3326:0.2844:0.383	.	2163	Q8NFC6	BOD1L_HUMAN	Q	2163	ENSP00000040738:K2163Q	ENSP00000040738:K2163Q	K	-	1	0	BOD1L	13211135	0.001000	0.12720	0.000000	0.03702	0.170000	0.22686	0.482000	0.22276	-0.265000	0.09352	0.454000	0.30748	AAG		0.507	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		22	59	0	0	0	0	22	59				
PHOX2B	8929	broad.mit.edu	37	4	41747863	41747863	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:41747863G>C	ENST00000226382.2	-	3	1265	c.906C>G	c.(904-906)aaC>aaG	p.N302K	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	302					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTTTGGCACCGTTGGGTCTTT	0.687			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc003gwf.3		NA	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(904-906)AAC>AAG		paired-like homeobox 2b							25.0	34.0	31.0					4																	41747863		2203	4300	6503	SO:0001583	missense	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41747863G>C	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.906C>G	4.37:g.41747863G>C	ENSP00000226382:p.Asn302Lys						p.N302K	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			3	1266	-			302					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.906C>G	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696310	0.48202	.	.	ENSG00000109132	ENST00000226382	D	0.92099	-2.97	3.81	3.81	0.43845	.	0.103041	0.64402	D	0.000005	D	0.87071	0.6086	N	0.14661	0.345	0.53005	D	0.999963	D	0.57257	0.979	P	0.47891	0.56	D	0.87874	0.2673	10	0.41790	T	0.15	.	14.9235	0.70859	0.0:0.0:1.0:0.0	.	302	Q99453	PHX2B_HUMAN	K	302	ENSP00000226382:N302K	ENSP00000226382:N302K	N	-	3	2	PHOX2B	41442620	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.961000	0.63681	2.120000	0.65058	0.305000	0.20034	AAC		0.687	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			27	65	0	0	0	0	27	65				
KCTD8	386617	broad.mit.edu	37	4	44177041	44177041	+	Silent	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:44177041T>A	ENST00000360029.3	-	2	1471	c.1188A>T	c.(1186-1188)gcA>gcT	p.A396A		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	396					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATTGTACAGGTGCTTTTTTAG	0.493										HNSCC(17;0.042)																												uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1186-1188)GCA>GCT		potassium channel tetramerisation domain							178.0	181.0	180.0					4																	44177041		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177041T>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1188A>T	4.37:g.44177041T>A		HNSCC(17;0.042)					p.A396A	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1472	-			396					A2RU39	Silent	SNP	ENST00000360029.3	37	c.1188A>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.434444	0.01108	.	.	ENSG00000183783	ENST00000515268	.	.	.	4.56	-9.11	0.00711	.	.	.	.	.	T	0.46483	0.1395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55088	-0.8195	4	.	.	.	.	8.2269	0.31575	0.0833:0.2008:0.5854:0.1305	.	.	.	.	L	132	.	.	H	-	2	0	KCTD8	43871798	0.217000	0.23597	0.573000	0.28510	0.011000	0.07611	-0.693000	0.05121	-2.395000	0.00582	-2.136000	0.00340	CAC		0.493	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			41	216	0	0	0	0	41	216				
FRAS1	80144	broad.mit.edu	37	4	79284715	79284715	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:79284715G>T	ENST00000325942.6	+	21	2911	c.2471G>T	c.(2470-2472)gGg>gTg	p.G824V	FRAS1_ENST00000264895.6_Missense_Mutation_p.G824V	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	824					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACAACACTGGGAGCATCTGC	0.582																																						uc003hlb.2		NA																	0				large_intestine(5)	5						c.(2470-2472)GGG>GTG		Fraser syndrome 1							44.0	43.0	44.0					4																	79284715		2104	4236	6340	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79284715G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2471G>T	4.37:g.79284715G>T	ENSP00000326330:p.Gly824Val					FRAS1_uc003hkw.2_Missense_Mutation_p.G824V	p.G824V	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			21	2911	+			824			FU 9.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.2471G>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012949	0.54468	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.29142	1.58;2.62	5.12	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	L	0.60455	1.87	0.80722	D	1	P;D	0.63046	0.955;0.992	P;P	0.56088	0.756;0.791	T	0.45673	-0.9245	10	0.66056	D	0.02	.	13.8702	0.63615	0.0738:0.0:0.9262:0.0	.	824;824	E9PHH6;A2RRR8	.;.	V	824	ENSP00000326330:G824V;ENSP00000264895:G824V	ENSP00000264895:G824V	G	+	2	0	FRAS1	79503739	1.000000	0.71417	0.556000	0.28293	0.399000	0.30720	5.952000	0.70282	1.178000	0.42870	-0.198000	0.12761	GGG		0.582	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			13	18	1	0	1.05e-09	2.03e-09	13	18				
PTPN13	5783	broad.mit.edu	37	4	87705662	87705662	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:87705662A>T	ENST00000411767.2	+	38	6132	c.6069A>T	c.(6067-6069)aaA>aaT	p.K2023N	PTPN13_ENST00000427191.2_Missense_Mutation_p.K2004N|PTPN13_ENST00000316707.6_Missense_Mutation_p.K1832N|PTPN13_ENST00000436978.1_Missense_Mutation_p.K2028N|PTPN13_ENST00000511467.1_Missense_Mutation_p.K2028N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2023					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCAAAGGAAAATGTTCTACTT	0.353																																						uc003hpz.2		NA																	0				ovary(4)|breast(1)|kidney(1)	6						c.(6067-6069)AAA>AAT		protein tyrosine phosphatase, non-receptor type							122.0	117.0	118.0					4																	87705662		1847	4092	5939	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87705662A>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6069A>T	4.37:g.87705662A>T	ENSP00000407249:p.Lys2023Asn					PTPN13_uc003hpy.2_Missense_Mutation_p.K2028N|PTPN13_uc003hqa.2_Missense_Mutation_p.K2004N|PTPN13_uc003hqb.2_Missense_Mutation_p.K1832N|PTPN13_uc003hqc.1_Missense_Mutation_p.K389N	p.K2023N	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	38	6549	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2023					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6069A>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	8.500	0.863998	0.17250	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.52057	0.69;0.71;0.78;0.68;0.71	5.12	5.12	0.69794	.	0.578909	0.15484	N	0.259914	T	0.37544	0.1007	L	0.44542	1.39	0.09310	N	1	P;B;B;B	0.36535	0.557;0.003;0.002;0.003	B;B;B;B	0.30782	0.12;0.004;0.002;0.006	T	0.19647	-1.0299	10	0.22706	T	0.39	.	13.4571	0.61206	1.0:0.0:0.0:0.0	.	1832;2004;2023;2028	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	N	2004;2028;1832;2023;2028;1972	ENSP00000408368:K2004N;ENSP00000394794:K2028N;ENSP00000322675:K1832N;ENSP00000407249:K2023N;ENSP00000426626:K2028N	ENSP00000322675:K1832N	K	+	3	2	PTPN13	87924686	0.952000	0.32445	0.149000	0.22428	0.434000	0.31775	1.828000	0.39111	2.044000	0.60594	0.460000	0.39030	AAA		0.353	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			3	27	0	0	0	0	3	27				
ICE1	23379	broad.mit.edu	37	5	5486871	5486871	+	Silent	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:5486871A>T	ENST00000296564.7	+	18	6780	c.6558A>T	c.(6556-6558)ccA>ccT	p.P2186P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2186					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGGATTTCCATCTGCTGTGA	0.323																																						uc003jdm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(6556-6558)CCA>CCT		hypothetical protein LOC23379							85.0	79.0	81.0					5																	5486871		1829	4087	5916	SO:0001819	synonymous_variant	23379							g.chr5:5486871A>T																												ENST00000296564.7:c.6558A>T	5.37:g.5486871A>T							p.P2186P	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			18	6780	+			2186					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.6558A>T	CCDS47187.1																																																																																				0.323	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			3	8	0	0	0	0	3	8				
DNAH5	1767	broad.mit.edu	37	5	13708445	13708445	+	Splice_Site	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:13708445C>T	ENST00000265104.4	-	76	13230		c.e76-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTCTTTTACCTGCCATGGAG	0.463									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.e76-1		dynein, axonemal, heavy chain 5							70.0	69.0	69.0					5																	13708445		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13708445C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13126-1G>A	5.37:g.13708445C>T						DNAH5_uc003jfc.2_Splice_Site_p.V544_splice	p.V4376_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			76	13168	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.13126_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782321	0.90282	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1015	0.93276	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13761445	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.731000	0.84895	2.581000	0.87130	0.655000	0.94253	.		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	31	62	0	0	0	0	31	62				
SLC38A9	153129	broad.mit.edu	37	5	54968452	54968452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:54968452G>A	ENST00000396865.2	-	4	776	c.185C>T	c.(184-186)tCt>tTt	p.S62F	SLC38A9_ENST00000416547.2_Intron|SLC38A9_ENST00000318672.3_Missense_Mutation_p.S62F|SLC38A9_ENST00000515629.1_5'UTR|SLC38A9_ENST00000539768.1_Missense_Mutation_p.S62F|SLC38A9_ENST00000512595.1_Missense_Mutation_p.S35F	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	62					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GTTCATGGCAGAGGCATGGTC	0.413																																						uc003jqf.2		NA																	0					0						c.(184-186)TCT>TTT		solute carrier family 38, member 9							146.0	129.0	135.0					5																	54968452		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54968452G>A		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.185C>T	5.37:g.54968452G>A	ENSP00000380074:p.Ser62Phe					SLC38A9_uc003jqd.2_5'UTR|SLC38A9_uc010ivx.2_Missense_Mutation_p.S35F|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Intron	p.S62F	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			4	386	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	62					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.185C>T	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892485	0.72524	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000512595;ENST00000511233;ENST00000503891;ENST00000513993	T;T;T;T;T	0.51325	1.73;1.73;0.71;1.33;1.29	5.75	5.75	0.90469	.	0.107176	0.64402	D	0.000004	T	0.50667	0.1629	L	0.32530	0.975	0.58432	D	0.999992	P;P	0.43578	0.668;0.811	B;P	0.47941	0.425;0.562	T	0.51593	-0.8686	10	0.72032	D	0.01	-2.9211	19.9405	0.97159	0.0:0.0:1.0:0.0	.	35;62	B3KXV1;Q8NBW4	.;S38A9_HUMAN	F	62;62;62;35;62;62;62	ENSP00000380074:S62F;ENSP00000316596:S62F;ENSP00000437771:S62F;ENSP00000427335:S35F;ENSP00000423219:S62F	ENSP00000316596:S62F	S	-	2	0	SLC38A9	55004209	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.159000	0.94728	2.716000	0.92895	0.650000	0.86243	TCT		0.413	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		16	61	0	0	0	0	16	61				
PCDHA1	56147	broad.mit.edu	37	5	140166108	140166108	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:140166108A>T	ENST00000504120.2	+	1	233	c.233A>T	c.(232-234)aAt>aTt	p.N78I	PCDHA1_ENST00000378133.3_Missense_Mutation_p.N78I|PCDHA1_ENST00000394633.3_Missense_Mutation_p.N78I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGGTAAATCTGCAGAAT	0.597																																						uc003lhb.2		NA																	0				skin(1)	1						c.(232-234)AAT>ATT		protocadherin alpha 1 isoform 1 precursor							86.0	92.0	90.0					5																	140166108		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166108A>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.233A>T	5.37:g.140166108A>T	ENSP00000420840:p.Asn78Ile					PCDHA1_uc003lha.2_Missense_Mutation_p.N78I|PCDHA1_uc003lgz.2_Missense_Mutation_p.N78I	p.N78I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	233	+			78			Cadherin 1.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.233A>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	a	21.6	4.167546	0.78339	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.44881	0.91;0.91;0.91	4.31	4.31	0.51392	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.45867	U	0.000325	T	0.77678	0.4166	H	0.98901	4.365	0.37419	D	0.913576	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.963;0.995;0.968	D	0.88592	0.3144	10	0.87932	D	0	.	13.7393	0.62838	1.0:0.0:0.0:0.0	.	78;78;78	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	78	ENSP00000420840:N78I;ENSP00000378129:N78I;ENSP00000367373:N78I	ENSP00000367373:N78I	N	+	2	0	PCDHA1	140146292	0.986000	0.35501	1.000000	0.80357	0.980000	0.70556	4.371000	0.59523	1.726000	0.51525	0.528000	0.53228	AAT		0.597	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		37	127	0	0	0	0	37	127				
PCDHA8	56140	broad.mit.edu	37	5	140222763	140222763	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:140222763C>A	ENST00000531613.1	+	1	1857	c.1857C>A	c.(1855-1857)cgC>cgA	p.R619R	PCDHA8_ENST00000378123.3_Silent_p.R619R|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	619	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCCTCGCATCCCGTTCC	0.672																																						uc003lhs.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1855-1857)CGC>CGA		protocadherin alpha 8 isoform 1 precursor							96.0	94.0	95.0					5																	140222763		2197	4271	6468	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222763C>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1857C>A	5.37:g.140222763C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.R619R	p.R619R	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1857	+			619			Cadherin 6.|Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1857C>A	CCDS54919.1																																																																																				0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		48	111	1	0	1.62e-15	3.38e-15	48	111				
PCDHB2	56133	broad.mit.edu	37	5	140475707	140475707	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:140475707G>C	ENST00000194155.4	+	1	1481	c.1333G>C	c.(1333-1335)Gac>Cac	p.D445H		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCTCCGACGTCAATGA	0.607																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1333-1335)GAC>CAC		protocadherin beta 2 precursor							139.0	129.0	133.0					5																	140475707		2203	4297	6500	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475707G>C	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1333G>C	5.37:g.140475707G>C	ENSP00000194155:p.Asp445His					PCDHB2_uc003lim.1_Missense_Mutation_p.D106H	p.D445H	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1471	+			445			Extracellular (Potential).|Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1333G>C	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750228	0.49257	.	.	ENSG00000112852	ENST00000194155	T	0.69040	-0.37	5.11	5.11	0.69529	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90978	0.7163	H	0.99838	4.83	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.95268	0.8375	9	0.87932	D	0	.	18.5922	0.91217	0.0:0.0:1.0:0.0	.	445	Q9Y5E7	PCDB2_HUMAN	H	445	ENSP00000194155:D445H	ENSP00000194155:D445H	D	+	1	0	PCDHB2	140455891	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	7.489000	0.81451	2.542000	0.85734	0.650000	0.86243	GAC		0.607	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		55	136	0	0	0	0	55	136				
CREBRF	153222	broad.mit.edu	37	5	172517447	172517447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:172517447G>A	ENST00000296953.2	+	4	584	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	CREBRF_ENST00000540014.1_Missense_Mutation_p.E89K|CREBRF_ENST00000522692.1_Missense_Mutation_p.E89K|CREBRF_ENST00000520420.1_Missense_Mutation_p.E89K	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	89					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTCAAACTGGGAACAGTGGGA	0.413																																						uc003mch.2		NA																	0					0						c.(265-267)GAA>AAA		luman-recruiting factor							98.0	94.0	96.0					5																	172517447		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172517447G>A	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.265G>A	5.37:g.172517447G>A	ENSP00000296953:p.Glu89Lys					C5orf41_uc003mcg.2_Missense_Mutation_p.E89K|C5orf41_uc003mcf.2_Missense_Mutation_p.E89K|C5orf41_uc011dfd.1_Missense_Mutation_p.E89K	p.E89K	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	569	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	89					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.265G>A	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413084	0.83449	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	N	0.17082	0.46	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.77557	0.987;0.99	T	0.74922	-0.3499	10	0.39692	T	0.17	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	89;89	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	K	89	ENSP00000431107:E89K;ENSP00000296953:E89K;ENSP00000440075:E89K;ENSP00000428290:E89K	ENSP00000296953:E89K	E	+	1	0	C5orf41	172450053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.062000	0.93920	2.894000	0.99253	0.655000	0.94253	GAA		0.413	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		29	34	0	0	0	0	29	34				
RGS14	10636	broad.mit.edu	37	5	176794768	176794768	+	Silent	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr5:176794768G>T	ENST00000408923.3	+	7	869	c.681G>T	c.(679-681)ggG>ggT	p.G227G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	227					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGGAGTTGGGGCAGCTGCCAC	0.711																																					NSCLC(47;353 1896 28036)	uc003mgf.2		NA																	0				lung(1)	1						c.(679-681)GGG>GGT		regulator of G-protein signalling 14							24.0	35.0	31.0					5																	176794768		1975	4133	6108	SO:0001819	synonymous_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176794768G>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.681G>T	5.37:g.176794768G>T						RGS14_uc003mgg.1_Silent_p.G74G|RGS14_uc003mgh.2_Silent_p.G74G|RGS14_uc003mgi.2_5'UTR	p.G227G	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	863	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	227					O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	c.681G>T	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085886	0.20390	.	.	ENSG00000169220	ENST00000511890	T	0.44881	0.91	3.83	2.87	0.33458	.	0.258088	0.39146	N	0.001442	T	0.47875	0.1469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50118	-0.8865	7	0.72032	D	0.01	-22.5913	6.4377	0.21833	0.1163:0.1911:0.6926:0.0	.	.	.	.	V	97	ENSP00000422329:G97V	ENSP00000422329:G97V	G	+	2	0	RGS14	176727374	0.998000	0.40836	1.000000	0.80357	0.604000	0.37047	0.753000	0.26376	2.144000	0.66660	0.462000	0.41574	GGC		0.711	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		14	49	1	0	1.68e-08	3.22e-08	14	49				
DNAH8	1769	broad.mit.edu	37	6	38820534	38820534	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr6:38820534G>A	ENST00000359357.3	+	38	5134	c.4880G>A	c.(4879-4881)cGc>cAc	p.R1627H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1627H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1844H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1627					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1627H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACTATGATCGCATCATGGCC	0.378																																						uc003ooe.1		NA																	2	Substitution - Missense(2)		large_intestine(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4879-4881)CGC>CAC		dynein, axonemal, heavy polypeptide 8							100.0	98.0	99.0					6																	38820534		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38820534G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4880G>A	6.37:g.38820534G>A	ENSP00000352312:p.Arg1627His						p.R1627H	NM_001371	NP_001362					38	5480	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4880G>A		.	.	.	.	.	.	.	.	.	.	G	17.07	3.294705	0.60086	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26660	1.78;1.77;1.72	4.93	4.04	0.47022	Dynein heavy chain, domain-2 (1);	0.234998	0.36815	N	0.002391	T	0.37598	0.1009	M	0.82132	2.575	0.38515	D	0.948569	D	0.62365	0.991	P	0.61940	0.896	T	0.23976	-1.0173	10	0.52906	T	0.07	.	10.5804	0.45252	0.1539:0.0:0.8461:0.0	.	1627	Q96JB1	DYH8_HUMAN	H	1832;1832;1627;1627	ENSP00000333363:R1832H;ENSP00000352312:R1627H;ENSP00000402294:R1627H	ENSP00000333363:R1832H	R	+	2	0	DNAH8	38928512	0.998000	0.40836	0.994000	0.49952	0.605000	0.37080	2.811000	0.47986	2.451000	0.82905	0.467000	0.42956	CGC		0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		8	30	0	0	0	0	8	30				
EIF3B	8662	broad.mit.edu	37	7	2409186	2409186	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:2409186C>A	ENST00000360876.4	+	10	1539	c.1483C>A	c.(1483-1485)Ctg>Atg	p.L495M	EIF3B_ENST00000397011.2_Missense_Mutation_p.L495M	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CAGGGTAACCCTGATGCAGCT	0.488																																						uc003slx.2		NA																	0					0						c.(1483-1485)CTG>ATG		eukaryotic translation initiation factor 3,							172.0	171.0	172.0					7																	2409186		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2409186C>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1483C>A	7.37:g.2409186C>A	ENSP00000354125:p.Leu495Met					EIF3B_uc003sly.2_Missense_Mutation_p.L495M|EIF3B_uc003sma.2_Missense_Mutation_p.L223M	p.L495M	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	10	1566	+		Ovarian(82;0.0253)	495						Missense_Mutation	SNP	ENST00000360876.4	37	c.1483C>A	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116293	0.56505	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.07567	3.18;3.18	5.77	2.53	0.30540	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	M	0.81341	2.54	0.51767	D	0.999937	D	0.63880	0.993	D	0.65573	0.936	T	0.00832	-1.1548	10	0.66056	D	0.02	-28.9623	7.4275	0.27107	0.0:0.5866:0.0:0.4134	.	495	P55884	EIF3B_HUMAN	M	495;495;495;419	ENSP00000354125:L495M;ENSP00000380206:L495M	ENSP00000316638:L495M	L	+	1	2	EIF3B	2375712	0.641000	0.27251	0.984000	0.44739	0.968000	0.65278	1.062000	0.30555	0.907000	0.36646	0.655000	0.94253	CTG		0.488	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			6	198	1	0	0.00116845	0.00202056	6	198				
IQCE	23288	broad.mit.edu	37	7	2618149	2618149	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:2618149G>T	ENST00000402050.2	+	8	803	c.619G>T	c.(619-621)Gat>Tat	p.D207Y	IQCE_ENST00000404984.1_Missense_Mutation_p.D156Y|IQCE_ENST00000438376.2_Missense_Mutation_p.D191Y|IQCE_ENST00000325979.7_Missense_Mutation_p.D142Y	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	207						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAAAAGGCCCGATGCCAGTTG	0.587																																						uc003smo.3		NA																	0					0						c.(619-621)GAT>TAT		IQ motif containing E isoform 1							94.0	105.0	102.0					7																	2618149		2042	4198	6240	SO:0001583	missense	23288							g.chr7:2618149G>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.619G>T	7.37:g.2618149G>T	ENSP00000385597:p.Asp207Tyr					IQCE_uc010ksm.1_Missense_Mutation_p.D207Y|IQCE_uc003sml.1_Missense_Mutation_p.D207Y|IQCE_uc011jvy.1_Missense_Mutation_p.D191Y|IQCE_uc011jvz.1_Missense_Mutation_p.D142Y|IQCE_uc003smk.3_Missense_Mutation_p.D191Y|IQCE_uc003smn.3_Missense_Mutation_p.D142Y	p.D207Y	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	8	803	+		Ovarian(82;0.0112)	207			Potential.		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.619G>T	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407177	0.62399	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979	T;T;T;T;T	0.53857	2.23;2.22;0.6;2.23;2.36	5.44	5.44	0.79542	.	0.306550	0.34777	N	0.003692	T	0.72137	0.3423	M	0.71581	2.175	0.37713	D	0.924623	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;1.0;0.999	D;D;D;P;D;D	0.70016	0.967;0.967;0.96;0.823;0.967;0.918	T	0.77544	-0.2548	10	0.72032	D	0.01	-16.6339	18.0386	0.89312	0.0:0.0:1.0:0.0	.	142;191;142;207;207;191	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	Y	207;156;243;191;142	ENSP00000385597:D207Y;ENSP00000385945:D156Y;ENSP00000404643:D243Y;ENSP00000396178:D191Y;ENSP00000313772:D142Y	ENSP00000313772:D142Y	D	+	1	0	IQCE	2584675	0.995000	0.38212	0.619000	0.29118	0.315000	0.28087	3.912000	0.56386	2.554000	0.86153	0.655000	0.94253	GAT		0.587	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		28	77	1	0	1.43e-11	2.85e-11	28	77				
TMEM106B	54664	broad.mit.edu	37	7	12263867	12263867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:12263867G>A	ENST00000396667.3	+	5	619	c.297G>A	c.(295-297)atG>atA	p.M99I	TMEM106B_ENST00000396668.3_Missense_Mutation_p.M99I	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	99					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTATGTGATGGCTTCTGTGT	0.388																																						uc011jxk.1		NA																	0					0						c.(295-297)ATG>ATA		transmembrane protein 106B							456.0	394.0	415.0					7																	12263867		2203	4300	6503	SO:0001583	missense	54664					integral to membrane		g.chr7:12263867G>A	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.297G>A	7.37:g.12263867G>A	ENSP00000379901:p.Met99Ile					TMEM106B_uc003ssh.2_Missense_Mutation_p.M99I	p.M99I	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	5	697	+			99			Helical; (Potential).		A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	c.297G>A	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385228	0.25031	.	.	ENSG00000106460	ENST00000396668;ENST00000444443;ENST00000396667	T;T;T	0.20881	2.04;2.04;2.04	4.88	3.99	0.46301	.	0.199794	0.50627	D	0.000110	T	0.11922	0.0290	L	0.29908	0.895	0.32947	D	0.519165	B	0.06786	0.001	B	0.08055	0.003	T	0.15780	-1.0425	10	0.15952	T	0.53	.	4.6845	0.12752	0.0844:0.1227:0.6093:0.1837	.	99	Q9NUM4	T106B_HUMAN	I	99	ENSP00000379902:M99I;ENSP00000401302:M99I;ENSP00000379901:M99I	ENSP00000379901:M99I	M	+	3	0	TMEM106B	12230392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.842000	0.27627	1.376000	0.46267	0.650000	0.86243	ATG		0.388	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		50	169	0	0	0	0	50	169				
PCLO	27445	broad.mit.edu	37	7	82584801	82584801	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:82584801G>A	ENST00000333891.9	-	5	5805	c.5468C>T	c.(5467-5469)cCa>cTa	p.P1823L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1823L	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						TGGTGTCTTTGGCCTTTCCCT	0.423																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(5467-5469)CCA>CTA		piccolo isoform 1							256.0	236.0	243.0					7																	82584801		1875	4107	5982	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584801G>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.5468C>T	7.37:g.82584801G>A	ENSP00000334319:p.Pro1823Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P1823L	p.P1823L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5757	-			1754						Missense_Mutation	SNP	ENST00000333891.9	37	c.5468C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416433	0.25552	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19394	2.15;2.16	5.33	5.33	0.75918	.	.	.	.	.	T	0.30916	0.0780	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.943	T	0.27502	-1.0072	9	0.87932	D	0	.	19.012	0.92877	0.0:0.0:1.0:0.0	.	1823;1823	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1754;1823;1823	ENSP00000334319:P1823L;ENSP00000388393:P1823L	ENSP00000334319:P1823L	P	-	2	0	PCLO	82422737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.208000	0.65203	2.502000	0.84385	0.655000	0.94253	CCA		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		43	149	0	0	0	0	43	149				
ADAM22	53616	broad.mit.edu	37	7	87785302	87785302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:87785302G>T	ENST00000265727.7	+	22	1967	c.1888G>T	c.(1888-1890)Gga>Tga	p.G630*	ADAM22_ENST00000315984.7_Nonsense_Mutation_p.G630*|ADAM22_ENST00000398204.4_Nonsense_Mutation_p.G630*|ADAM22_ENST00000398209.3_Nonsense_Mutation_p.G630*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.G630*			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	630	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGCAGCAAGGAAGAACATT	0.383																																						uc003ujn.2		NA																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1888-1890)GGA>TGA		ADAM metallopeptidase domain 22 isoform 1							191.0	175.0	180.0					7																	87785302		1857	4102	5959	SO:0001587	stop_gained	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87785302G>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1888G>T	7.37:g.87785302G>T	ENSP00000265727:p.Gly630*					ADAM22_uc003ujk.1_Nonsense_Mutation_p.G630*|ADAM22_uc003ujl.1_Nonsense_Mutation_p.G630*|ADAM22_uc003ujm.2_Nonsense_Mutation_p.G630*|ADAM22_uc003ujo.2_Nonsense_Mutation_p.G630*|ADAM22_uc003ujp.1_Nonsense_Mutation_p.G682*	p.G630*	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	1967	+	Esophageal squamous(14;0.00202)		630			Cys-rich.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Nonsense_Mutation	SNP	ENST00000265727.7	37	c.1888G>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	38	7.186652	0.98121	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	.	.	.	5.35	5.35	0.76521	.	0.051313	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.169	0.89739	0.0:0.0:1.0:0.0	.	.	.	.	X	630;630;630;630;630;597	.	ENSP00000265727:G630X	G	+	1	0	ADAM22	87623238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.408000	0.73285	2.650000	0.89964	0.655000	0.94253	GGA		0.383	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		19	56	1	0	5.35e-07	1e-06	19	56				
CCDC132	55610	broad.mit.edu	37	7	92905483	92905483	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:92905483A>G	ENST00000305866.5	+	12	936	c.808A>G	c.(808-810)Atg>Gtg	p.M270V	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Missense_Mutation_p.M240V|CCDC132_ENST00000317751.6_Start_Codon_SNP_p.M1V|CCDC132_ENST00000541136.1_Missense_Mutation_p.M81V|CCDC132_ENST00000251739.5_Missense_Mutation_p.M270V	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	270						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGACAGCAATGGATCAACT	0.343																																						uc003umo.2		NA																	0					0						c.(808-810)ATG>GTG		coiled-coil domain containing 132 isoform a							198.0	173.0	182.0					7																	92905483		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92905483A>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.808A>G	7.37:g.92905483A>G	ENSP00000307666:p.Met270Val					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.M240V|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.M270V	p.M270V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		12	936	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		270					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.808A>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049771	0.75846	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	T;T;T	0.52295	1.64;1.64;0.67	5.3	5.3	0.74995	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	L	0.42245	1.32	0.34679	D	0.724551	B;P;B	0.44776	0.361;0.843;0.335	B;D;B	0.64506	0.156;0.926;0.122	T	0.60005	-0.7347	10	0.13108	T	0.6	-34.2464	15.5517	0.76158	1.0:0.0:0.0:0.0	.	240;270;270	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	V	270;270;240;81;1	ENSP00000251739:M270V;ENSP00000445766:M81V;ENSP00000325582:M1V	ENSP00000251739:M270V	M	+	1	0	CCDC132	92743419	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.281000	0.95811	2.131000	0.65755	0.528000	0.53228	ATG		0.343	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		26	55	0	0	0	0	26	55				
ASNS	440	broad.mit.edu	37	7	97482391	97482391	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:97482391T>A	ENST00000394309.3	-	12	1928	c.1457A>T	c.(1456-1458)cAg>cTg	p.Q486L	ASNS_ENST00000455086.1_Missense_Mutation_p.Q403L|ASNS_ENST00000437628.1_Missense_Mutation_p.Q403L|ASNS_ENST00000422745.1_Missense_Mutation_p.Q465L|ASNS_ENST00000175506.4_Missense_Mutation_p.Q486L|ASNS_ENST00000444334.1_Missense_Mutation_p.Q465L|ASNS_ENST00000394308.3_Missense_Mutation_p.Q486L	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	486	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AACGTATTCCTGTAAAATCTT	0.358																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3		NA																	0				ovary(1)	1						c.(1456-1458)CAG>CTG		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						40.0	38.0	39.0					7																	97482391		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97482391T>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1457A>T	7.37:g.97482391T>A	ENSP00000377846:p.Gln486Leu					ASNS_uc011kin.1_Missense_Mutation_p.Q403L|ASNS_uc003uou.3_Missense_Mutation_p.Q486L|ASNS_uc003uov.3_Missense_Mutation_p.Q486L|ASNS_uc011kio.1_Missense_Mutation_p.Q465L|ASNS_uc003uow.3_Missense_Mutation_p.Q465L|ASNS_uc003uox.3_Missense_Mutation_p.Q403L	p.Q486L	NM_133436	NP_597680	P08243	ASNS_HUMAN			12	1963	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		486			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1457A>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131606	0.56828	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.45668	0.9;0.9;0.89;0.9;0.9;0.89;0.9	3.63	3.63	0.41609	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.69248	2.105	0.80722	D	1	P	0.36616	0.561	B	0.39617	0.305	T	0.51748	-0.8666	10	0.87932	D	0	-20.7808	10.8782	0.46923	0.0:0.0:0.0:1.0	.	486	P08243	ASNS_HUMAN	L	486;486;403;486;465;403;465	ENSP00000175506:Q486L;ENSP00000377846:Q486L;ENSP00000414379:Q403L;ENSP00000377845:Q486L;ENSP00000414901:Q465L;ENSP00000408472:Q403L;ENSP00000406994:Q465L	ENSP00000175506:Q486L	Q	-	2	0	ASNS	97320327	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.107000	0.64603	1.879000	0.54435	0.459000	0.35465	CAG		0.358	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		7	29	0	0	0	0	7	29				
BAIAP2L1	55971	broad.mit.edu	37	7	97939786	97939786	+	Missense_Mutation	SNP	G	G	A	rs377479272		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:97939786G>A	ENST00000005260.8	-	9	1141	c.926C>T	c.(925-927)cCg>cTg	p.P309L	RP4-607J23.2_ENST00000608882.1_RNA|RP4-607J23.2_ENST00000609873.1_RNA|BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	309					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGAATTCGGGGCAGCCGT	0.398																																						uc003upj.2		NA																	0				ovary(1)	1						c.(925-927)CCG>CTG		BAI1-associated protein 2-like 1		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	72.0	75.0	74.0		926	1.8	0.1	7		74	0,8600		0,0,4300	no	missense	BAIAP2L1	NM_018842.4	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	309/512	97939786	1,13005	2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97939786G>A	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.926C>T	7.37:g.97939786G>A	ENSP00000005260:p.Pro309Leu						p.P309L	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		9	1189	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		309					A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.926C>T	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	G	5.024	0.190098	0.09547	2.27E-4	0.0	ENSG00000006453	ENST00000005260	T	0.24908	1.83	5.64	1.82	0.25136	.	0.552015	0.20263	N	0.095827	T	0.11922	0.0290	N	0.08118	0	0.09310	N	0.999999	B	0.25486	0.127	B	0.13407	0.009	T	0.23940	-1.0174	10	0.20046	T	0.44	-8.0521	12.7576	0.57345	0.0:0.0:0.4151:0.5849	.	309	Q9UHR4	BI2L1_HUMAN	L	309	ENSP00000005260:P309L	ENSP00000005260:P309L	P	-	2	0	AC093799.1	97777722	0.280000	0.24249	0.059000	0.19551	0.005000	0.04900	1.335000	0.33839	0.067000	0.16545	-0.262000	0.10625	CCG		0.398	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		11	40	0	0	0	0	11	40				
LAMB4	22798	broad.mit.edu	37	7	107674717	107674717	+	Missense_Mutation	SNP	C	C	G	rs573359256		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:107674717C>G	ENST00000388781.3	-	31	4837	c.4754G>C	c.(4753-4755)cGg>cCg	p.R1585P	LAMB4_ENST00000205386.4_Missense_Mutation_p.R1585P|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.R1585P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1585	Domain I.				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						AGAGTTTGCCCGTCCTTGAGT	0.338																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(4753-4755)CGG>CCG		laminin, beta 4 precursor							293.0	275.0	281.0					7																	107674717		2201	4300	6501	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107674717C>G	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.4754G>C	7.37:g.107674717C>G	ENSP00000373433:p.Arg1585Pro					LAMB4_uc003vey.2_Missense_Mutation_p.R1585P|LAMB4_uc010ljp.1_Missense_Mutation_p.R554P	p.R1585P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			31	4838	-			1585			Potential.|Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4754G>C	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	3.686	-0.064549	0.07273	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.78481	1.45;1.45;-1.18;1.47	5.3	-8.12	0.01078	.	0.916905	0.09037	N	0.857795	T	0.56615	0.1997	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.024;0.003	B;B	0.16289	0.015;0.002	T	0.38585	-0.9654	10	0.34782	T	0.22	.	4.3951	0.11358	0.1014:0.1417:0.1711:0.5858	.	1585;1585	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	P	1585;1585;611;1585	ENSP00000205386:R1585P;ENSP00000373433:R1585P;ENSP00000416562:R611P;ENSP00000373432:R1585P	ENSP00000205386:R1585P	R	-	2	0	LAMB4	107461953	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.081000	0.03403	-1.611000	0.01581	-0.140000	0.14226	CGG		0.338	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		30	89	0	0	0	0	30	89				
TAS2R38	5726	broad.mit.edu	37	7	141673487	141673487	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:141673487C>T	ENST00000547270.1	-	1	86	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	1					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TTAGAGTCAACATGATGTCAC	0.448																																						uc003vwx.1		NA																	0				kidney(1)|skin(1)	2						c.(1-3)ATG>ATA		taste receptor, type 2, member 38							104.0	103.0	103.0					7																	141673487		2203	4300	6503	SO:0001582	initiator_codon_variant	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673487C>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.3G>A	7.37:g.141673487C>T	ENSP00000448219:p.Met1Ile						p.M1I	NM_176817	NP_789787	P59533	T2R38_HUMAN			1	87	-	Melanoma(164;0.0171)		1			Extracellular (Potential).		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.3G>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348012	0.41599	.	.	ENSG00000257138	ENST00000547270	T	0.00753	5.74	5.1	5.1	0.69264	.	0.278303	0.30036	N	0.010574	T	0.03827	0.0108	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.31110	-0.9955	9	0.87932	D	0	.	13.8927	0.63750	0.0:1.0:0.0:0.0	.	1	P59533	T2R38_HUMAN	I	1	ENSP00000448219:M1I	ENSP00000331291:M1I	M	-	3	0	TAS2R38	141319956	0.937000	0.31787	0.779000	0.31741	0.192000	0.23643	1.911000	0.39937	2.659000	0.90383	0.655000	0.94253	ATG		0.448	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817	Missense_Mutation	17	51	0	0	0	0	17	51				
ZNF786	136051	broad.mit.edu	37	7	148767797	148767797	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr7:148767797C>A	ENST00000491431.1	-	4	2131	c.2067G>T	c.(2065-2067)gcG>gcT	p.A689A	ZNF786_ENST00000316286.9_Silent_p.A603A|ZNF786_ENST00000451334.3_Silent_p.A652A	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	689					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(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGAGCAGCTGCGCCTTCAGGC	0.557																																						uc003wfh.2		NA																	0				breast(3)|skin(1)	4						c.(2065-2067)GCG>GCT		zinc finger protein 786							86.0	95.0	92.0					7																	148767797		2118	4249	6367	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767797C>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.2067G>T	7.37:g.148767797C>A						ZNF786_uc011kuk.1_Silent_p.A652A|ZNF786_uc003wfi.2_Silent_p.A603A	p.A689A	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2204	-	Melanoma(164;0.15)		689			C2H2-type 14.		A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.2067G>T	CCDS47738.1																																																																																				0.557	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		53	141	1	0	1.4e-22	2.98e-22	53	141				
SLCO5A1	81796	broad.mit.edu	37	8	70744880	70744880	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:70744880C>A	ENST00000260126.4	-	2	735	c.29G>T	c.(28-30)gGg>gTg	p.G10V	RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10V|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	10						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)			CTCTCCCGCCCCGGGCTGCAG	0.617											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(28-30)GGG>GTG		solute carrier organic anion transporter family,							34.0	41.0	39.0					8																	70744880		2198	4290	6488	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744880C>A	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.29G>T	8.37:g.70744880C>A	ENSP00000260126:p.Gly10Val		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_uc010lzb.2_Missense_Mutation_p.G10V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.G10V|SLCO5A1_uc010lzc.2_Missense_Mutation_p.G10V	p.G10V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	736	-	Breast(64;0.0654)		10			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.29G>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	3.073	-0.190671	0.06299	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.39229	1.22;1.58;1.09	5.31	-2.32	0.06745	.	1.908090	0.02825	N	0.125969	T	0.23451	0.0567	N	0.08118	0	0.19775	N	0.999959	B;B;B;B	0.26258	0.09;0.09;0.09;0.145	B;B;B;B	0.23018	0.019;0.018;0.018;0.043	T	0.23583	-1.0184	10	0.48119	T	0.1	.	7.1992	0.25871	0.0:0.5236:0.1296:0.3468	.	10;10;10;10	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	V	10	ENSP00000260126:G10V;ENSP00000434422:G10V;ENSP00000431611:G10V	ENSP00000260126:G10V	G	-	2	0	SLCO5A1	70907434	0.000000	0.05858	0.046000	0.18839	0.082000	0.17680	-1.622000	0.02042	-0.319000	0.08652	-0.350000	0.07774	GGG		0.617	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		23	71	1	0	7.38e-10	1.43e-09	23	71				
CA2	760	broad.mit.edu	37	8	86385963	86385963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:86385963C>G	ENST00000285379.5	+	3	504	c.274C>G	c.(274-276)Cag>Gag	p.Q92E		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	92			Q -> P (in OPTB3; in Czechoslovakia). {ECO:0000269|PubMed:15300855, ECO:0000269|PubMed:9143915}.		angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CAGATTGATTCAGTTTCACTT	0.338																																						uc003ydk.2		NA																	0				central_nervous_system(1)	1						c.(274-276)CAG>GAG		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						94.0	98.0	97.0					8																	86385963		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86385963C>G	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.274C>G	8.37:g.86385963C>G	ENSP00000285379:p.Gln92Glu						p.Q92E	NM_000067	NP_000058	P00918	CAH2_HUMAN			3	454	+			92		Q -> P (in OPTB3; in Czechoslovakia).		Activator.	B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.274C>G	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936581	0.92458	.	.	ENSG00000104267	ENST00000285379	D	0.86366	-2.11	5.56	5.56	0.83823	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	M	0.91406	3.205	0.80722	D	1	D	0.59767	0.986	P	0.57057	0.812	D	0.94441	0.7658	10	0.54805	T	0.06	-2.5208	18.5162	0.90936	0.0:1.0:0.0:0.0	.	92	P00918	CAH2_HUMAN	E	92	ENSP00000285379:Q92E	ENSP00000285379:Q92E	Q	+	1	0	CA2	86573215	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.794000	0.85869	2.625000	0.88918	0.555000	0.69702	CAG		0.338	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		14	50	0	0	0	0	14	50				
DCAF4L2	138009	broad.mit.edu	37	8	88886052	88886052	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:88886052G>T	ENST00000319675.3	-	1	244	c.148C>A	c.(148-150)Cgt>Agt	p.R50S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	50										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGCTTACACGCAGCTCGCGA	0.502																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(148-150)CGT>AGT		WD repeat domain 21C							107.0	97.0	100.0					8																	88886052		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886052G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.148C>A	8.37:g.88886052G>T	ENSP00000316496:p.Arg50Ser						p.R50S	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	245	-			50						Missense_Mutation	SNP	ENST00000319675.3	37	c.148C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660553	0.47572	.	.	ENSG00000176566	ENST00000319675	T	0.63096	-0.02	1.92	1.92	0.25849	WD40 repeat-like-containing domain (1);	0.158980	0.52532	D	0.000061	T	0.53626	0.1808	L	0.60455	1.87	0.09310	N	1	B	0.33826	0.427	B	0.35039	0.194	T	0.49303	-0.8954	10	0.49607	T	0.09	.	7.4275	0.27107	0.0:0.0:1.0:0.0	.	50	Q8NA75	DC4L2_HUMAN	S	50	ENSP00000316496:R50S	ENSP00000316496:R50S	R	-	1	0	DCAF4L2	88955168	1.000000	0.71417	0.020000	0.16555	0.081000	0.17604	1.139000	0.31504	0.750000	0.32877	0.467000	0.42956	CGT		0.502	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		27	71	1	0	3.29e-13	6.71e-13	27	71				
ANGPT1	284	broad.mit.edu	37	8	108306199	108306199	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:108306199G>T	ENST00000520734.1	-	5	688	c.403C>A	c.(403-405)Cta>Ata	p.L135I	ANGPT1_ENST00000520052.1_Missense_Mutation_p.L134I|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	335					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGGAAATCTAGACTTCCATCT	0.348																																						uc003ymn.2		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(1003-1005)CTA>ATA		angiopoietin 1 precursor							141.0	134.0	137.0					8																	108306199		2203	4300	6503	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108306199G>T	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.403C>A	8.37:g.108306199G>T	ENSP00000430750:p.Leu135Ile					ANGPT1_uc011lhv.1_Missense_Mutation_p.L135I|ANGPT1_uc003ymo.2_Missense_Mutation_p.L334I|ANGPT1_uc003ymp.3_Missense_Mutation_p.L134I	p.L335I	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		6	1471	-	Breast(1;5.06e-08)		335			Fibrinogen C-terminal.		Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.1003C>A		.	.	.	.	.	.	.	.	.	.	G	13.43	2.235640	0.39498	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.89	1.94	0.25998	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.065681	0.64402	D	0.000012	T	0.14874	0.0359	N	0.16098	0.37	0.36905	D	0.890596	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.12156	0.007;0.002;0.002	T	0.08066	-1.0740	10	0.52906	T	0.07	.	3.5747	0.07930	0.1383:0.2416:0.4951:0.125	.	134;335;335	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	I	335;334;147;135;134	ENSP00000428340:L335I;ENSP00000297450:L334I;ENSP00000430750:L135I;ENSP00000429349:L134I	ENSP00000297450:L334I	L	-	1	2	ANGPT1	108375375	1.000000	0.71417	0.981000	0.43875	0.758000	0.43043	1.246000	0.32803	0.067000	0.16545	-1.279000	0.01387	CTA		0.348	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		10	82	1	0	7.48e-07	1.39e-06	10	82				
CSMD3	114788	broad.mit.edu	37	8	114326998	114326998	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:114326998G>C	ENST00000297405.5	-	2	447	c.203C>G	c.(202-204)aCt>aGt	p.T68S	CSMD3_ENST00000455883.2_Missense_Mutation_p.T68S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T28S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T68S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	68	CUB 1. {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						TCCTTTTAAAGTTCCACCACA	0.308										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.(202-204)ACT>AGT		CUB and Sushi multiple domains 3 isoform 1							99.0	101.0	101.0					8																	114326998		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114326998G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.203C>G	8.37:g.114326998G>C	ENSP00000297405:p.Thr68Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.T28S|CSMD3_uc011lhx.1_Missense_Mutation_p.T68S|CSMD3_uc010mcx.1_Missense_Mutation_p.T68S|CSMD3_uc003ynx.3_Missense_Mutation_p.T68S	p.T68S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	362	-			68			Extracellular (Potential).|CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.203C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335953	0.41398	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.87	5.87	0.94306	CUB (5);	0.088074	0.43110	D	0.000609	T	0.25158	0.0611	L	0.49256	1.55	0.27177	N	0.96076	B;B;D;B;B	0.55605	0.206;0.356;0.972;0.245;0.014	B;B;P;B;B	0.48840	0.088;0.164;0.592;0.197;0.039	T	0.14448	-1.0472	10	0.18710	T	0.47	.	19.1982	0.93698	0.0:0.0:1.0:0.0	.	68;68;68;68;28	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	S	28;68;68;68	ENSP00000345799:T28S;ENSP00000297405:T68S;ENSP00000412263:T68S;ENSP00000343124:T68S	ENSP00000297405:T68S	T	-	2	0	CSMD3	114396174	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.621000	0.67743	2.777000	0.95525	0.557000	0.71058	ACT		0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	138	0	0	0	0	7	138				
ASAP1	50807	broad.mit.edu	37	8	131127924	131127924	+	Missense_Mutation	SNP	T	T	C	rs191199415	byFrequency	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:131127924T>C	ENST00000518721.1	-	23	2349	c.2122A>G	c.(2122-2124)Aat>Gat	p.N708D	ASAP1_ENST00000357668.1_Missense_Mutation_p.N708D	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	708					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGTCGAAGATTCCACTCATAT	0.413																																						uc003yta.1		NA																	0				ovary(4)	4						c.(2122-2124)AAT>GAT		development and differentiation enhancing factor							297.0	261.0	273.0					8																	131127924		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131127924T>C	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2122A>G	8.37:g.131127924T>C	ENSP00000429900:p.Asn708Asp					ASAP1_uc003ysz.1_Missense_Mutation_p.N519D|ASAP1_uc011liw.1_Missense_Mutation_p.N701D	p.N708D	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			22	2150	-			708					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2122A>G	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.17|12.17	1.857518|1.857518	0.32791|0.32791	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.06294	.|3.32;3.32	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Ankyrin repeat-containing domain (1);	.|0.139533	.|0.64402	.|D	.|0.000006	T|T	0.09247|0.09247	0.0228|0.0228	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;P	.|0.41131	.|0.255;0.255;0.739	.|B;B;B	.|0.36464	.|0.038;0.038;0.225	T|T	0.09250|0.09250	-1.0683|-1.0683	5|10	.|0.41790	.|T	.|0.15	.|.	14.4898|14.4898	0.67642|0.67642	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|708;708;711	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	G|D	528;121|711;708;708	.|ENSP00000350297:N708D;ENSP00000429900:N708D	.|ENSP00000344591:N711D	E|N	-|-	2|1	0|0	ASAP1|ASAP1	131197106|131197106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	4.935000|4.935000	0.63498|0.63498	2.087000|2.087000	0.62958|0.62958	0.528000|0.528000	0.53228|0.53228	GAA|AAT		0.413	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		36	298	0	0	0	0	36	298				
FAM135B	51059	broad.mit.edu	37	8	139160820	139160820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:139160820C>T	ENST00000395297.1	-	14	3561	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1131								p.E1131K(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTCTTCCTCTTCCTCTGGT	0.373										HNSCC(54;0.14)																												uc003yuy.2		NA																	2	Substitution - Missense(2)		skin(2)	ovary(7)|skin(2)	9						c.(3391-3393)GAG>AAG		hypothetical protein LOC51059							116.0	101.0	106.0					8																	139160820		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160820C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3391G>A	8.37:g.139160820C>T	ENSP00000378710:p.Glu1131Lys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.E1032K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.E693K|FAM135B_uc003yvb.2_Missense_Mutation_p.R658K	p.E1131K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3562	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1131					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3391G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	17.29	3.350907	0.61183	.	.	ENSG00000147724	ENST00000395297	T	0.16324	2.35	5.78	5.78	0.91487	.	0.113326	0.64402	D	0.000015	T	0.44371	0.1290	M	0.74258	2.255	0.49389	D	0.999781	D;D	0.89917	1.0;0.996	D;P	0.74348	0.983;0.874	T	0.14559	-1.0468	9	.	.	.	-25.64	19.0057	0.92849	0.0:1.0:0.0:0.0	.	1131;1131	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	K	1131	ENSP00000378710:E1131K	.	E	-	1	0	FAM135B	139230002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.015000	0.57152	2.730000	0.93505	0.650000	0.86243	GAG		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		5	23	0	0	0	0	5	23				
CHRAC1	54108	broad.mit.edu	37	8	141521631	141521631	+	Silent	SNP	C	C	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:141521631C>A	ENST00000220913.5	+	1	235	c.33C>A	c.(31-33)ggC>ggA	p.G11G	CHRAC1_ENST00000519533.1_Silent_p.G11G	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	11					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			AAGACAAGGGCGGGGAGCAGC	0.697																																						uc003yvl.2		NA																	0				ovary(1)	1						c.(31-33)GGC>GGA		chromatin accessibility complex 1							18.0	15.0	16.0					8																	141521631		2187	4293	6480	SO:0001819	synonymous_variant	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141521631C>A	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.33C>A	8.37:g.141521631C>A						CHRAC1_uc010mem.1_RNA	p.G11G	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		1	231	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		11						Silent	SNP	ENST00000220913.5	37	c.33C>A	CCDS6379.1																																																																																				0.697	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		6	7	1	0	0.00116845	0.00202056	6	7				
MFSD3	113655	broad.mit.edu	37	8	145738093	145738093	+	IGR	SNP	C	C	T	rs202045203	byFrequency	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr8:145738093C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Silent_p.A939A	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TATAGGTGGTCGCCAGCAGCT	0.672													C|||	5	0.000998403	0.0	0.0043	5008	,	,		18191	0.0		0.002	False		,,,				2504	0.0					uc003zdj.2		NA								N|F|S						osteosarcoma|skin basal and sqamous cell			0				breast(2)|lung(1)|skin(1)	4						c.(2815-2817)GCG>GCA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4		C		3,4189		0,3,2093	28.0	35.0	33.0		2818	-10.6	0.0	8		33	17,8409		0,17,4196	yes	coding-synonymous	RECQL4	NM_004260.3		0,20,6289	TT,TC,CC		0.2018,0.0716,0.1585		939/1209	145738093	20,12598	2096	4213	6309	SO:0001628	intergenic_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145738093C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738093C>T							p.A939A	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		17	2849	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		939						Silent	SNP	ENST00000301327.4	37	c.2817G>A	CCDS6431.1																																																																																				0.672	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		5	35	0	0	0	0	5	35				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	p.R58*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	384	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	8	0	0	0	0	7	8				
UBAP1	51271	broad.mit.edu	37	9	34249862	34249862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:34249862C>T	ENST00000297661.4	+	5	1404	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000359544.2_Missense_Mutation_p.P390L|UBAP1_ENST00000540348.1_Missense_Mutation_p.P390L|UBAP1_ENST00000536252.1_Missense_Mutation_p.P390L|UBAP1_ENST00000545103.1_Missense_Mutation_p.P454L|UBAP1_ENST00000543944.1_Missense_Mutation_p.P426L	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	390	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			ATGCTGTCCCCCAGCGAGCGG	0.532																																					NSCLC(109;1074 1634 14978 20375 39620)	uc003ztx.2		NA																	0					0						c.(1168-1170)CCC>CTC		ubiquitin associated protein 1							123.0	113.0	117.0					9																	34249862		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34249862C>T	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1169C>T	9.37:g.34249862C>T	ENSP00000297661:p.Pro390Leu					UBAP1_uc010mka.1_Missense_Mutation_p.P426L|UBAP1_uc003zty.2_Missense_Mutation_p.P390L|UBAP1_uc011loi.1_Missense_Mutation_p.P426L|UBAP1_uc011loj.1_Missense_Mutation_p.P454L|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.P390L	p.P390L	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		5	1404	+			390			UBA 1.		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.1169C>T	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157930	0.57368	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000359544	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.37	5.37	0.77165	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.192689	0.46145	D	0.000312	T	0.80088	0.4559	L	0.38531	1.155	0.80722	D	1	D;D;D;D	0.63046	0.986;0.986;0.992;0.96	P;P;P;P	0.57720	0.641;0.641;0.826;0.504	T	0.80728	-0.1253	10	0.56958	D	0.05	-4.3708	14.8596	0.70369	0.0:0.8569:0.1431:0.0	.	454;426;454;390	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	L	454;426;390;390;390;390	ENSP00000441024:P454L;ENSP00000439806:P426L;ENSP00000440456:P390L;ENSP00000439976:P390L;ENSP00000297661:P390L;ENSP00000352541:P390L	ENSP00000297661:P390L	P	+	2	0	UBAP1	34239862	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	5.472000	0.66768	2.793000	0.96121	0.591000	0.81541	CCC		0.532	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			39	57	0	0	0	0	39	57				
ECM2	1842	broad.mit.edu	37	9	95277012	95277012	+	Missense_Mutation	SNP	C	C	T	rs534479751|rs532812407	byFrequency	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:95277012C>T	ENST00000344604.5	-	4	1104	c.955G>A	c.(955-957)Ggg>Agg	p.G319R	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.G297R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	319	LRRNT.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AGAGAGCACCCGCTTGGCAGG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		16889	0.0		0.0	False		,,,				2504	0.001					uc004ash.2		NA																	0				ovary(1)|skin(1)	2						c.(955-957)GGG>AGG		extracellular matrix protein 2 precursor							175.0	141.0	152.0					9																	95277012		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277012C>T	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.955G>A	9.37:g.95277012C>T	ENSP00000344758:p.Gly319Arg					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.G297R|ECM2_uc011lty.1_Missense_Mutation_p.G319R|ECM2_uc004asg.2_Missense_Mutation_p.G297R	p.G319R	NM_001393	NP_001384	O94769	ECM2_HUMAN			4	1020	-			319			LRRNT.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.955G>A	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	C	9.522	1.108477	0.20714	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.51574	0.7;0.7	4.97	-2.91	0.05631	.	0.655996	0.15165	N	0.276977	T	0.30916	0.0780	N	0.25647	0.755	0.09310	N	1	B;B;B	0.25809	0.06;0.135;0.084	B;B;B	0.18871	0.016;0.019;0.023	T	0.11299	-1.0593	10	0.33141	T	0.24	.	14.7916	0.69846	0.0:0.859:0.0:0.141	.	319;297;297	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	R	297;319	ENSP00000393971:G297R;ENSP00000344758:G319R	ENSP00000344758:G319R	G	-	1	0	ECM2	94316833	0.000000	0.05858	0.002000	0.10522	0.343000	0.28985	0.586000	0.23894	-0.398000	0.07679	0.655000	0.94253	GGG		0.587	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		22	36	0	0	0	0	22	36				
BRINP1	1620	broad.mit.edu	37	9	122011377	122011377	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:122011377C>T	ENST00000265922.3	-	3	731	c.270G>A	c.(268-270)ctG>ctA	p.L90L	BRINP1_ENST00000373964.2_Silent_p.L90L	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	90	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GATGGCGGACCAGATCTCTCC	0.532																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(268-270)CTG>CTA		deleted in bladder cancer 1 precursor							109.0	93.0	99.0					9																	122011377		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122011377C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.270G>A	9.37:g.122011377C>T						DBC1_uc004bkd.2_Silent_p.L90L	p.L90L	NM_014618	NP_055433	O60477	DBC1_HUMAN			3	726	-			90			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.270G>A	CCDS6822.1																																																																																				0.532	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		16	26	0	0	0	0	16	26				
ASMTL	8623	broad.mit.edu	37	X	1538002	1538002	+	Silent	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:1538002C>T	ENST00000381317.3	-	10	1283	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	ASMTL_ENST00000381333.4_Silent_p.A401A|ASMTL_ENST00000534940.1_Silent_p.A359A|ASMTL_ENST00000416733.2_Silent_p.A341A	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	417	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				TCTGGTAGTACGCATCCTGGA	0.667													c|||	1	0.000199681	0.0	0.0	5008	,	,		14713	0.0		0.001	False		,,,				2504	0.0					uc004cpx.1		NA																	0					0						c.(1249-1251)GCG>GCA		acetylserotonin O-methyltransferase-like			,,	0,4180		0,0,2090	33.0	43.0	40.0		1077,1203,1251	-3.8	0.0	X		40	8,8406		0,8,4199	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	0,8,6289	TT,TC,CC		0.0951,0.0,0.0635	,,	359/564,401/606,417/622	1538002	8,12586	2090	4207	6297	SO:0001819	synonymous_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1538002C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1251G>A	X.37:g.1538002C>T						ASMTL_uc011mhe.1_Silent_p.A341A|ASMTL_uc004cpy.1_Silent_p.A401A|ASMTL_uc011mhf.1_Silent_p.A359A	p.A417A	NM_004192	NP_004183	O95671	ASML_HUMAN			10	1362	-		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)	417			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	c.1251G>A	CCDS43917.1																																																																																				0.667	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		7	40	0	0	0	0	7	40				
FAM47C	442444	broad.mit.edu	37	X	37027194	37027194	+	Silent	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:37027194G>A	ENST00000358047.3	+	1	763	c.711G>A	c.(709-711)gaG>gaA	p.E237E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	237										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCACCTGGAGCCTCCAGAGA	0.632																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(709-711)GAG>GAA		hypothetical protein LOC442444							46.0	44.0	45.0					X																	37027194		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027194G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.711G>A	X.37:g.37027194G>A							p.E237E	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	725	+			237					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.711G>A	CCDS35227.1																																																																																				0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		37	15	0	0	0	0	37	15				
DUSP21	63904	broad.mit.edu	37	X	44703891	44703891	+	Silent	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:44703891G>C	ENST00000339042.4	+	1	643	c.513G>C	c.(511-513)tcG>tcC	p.S171S		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	171					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGATCAACTCGCCGGTAGGTA	0.512																																						uc004dgd.2		NA																	0				large_intestine(1)|lung(1)	2						c.(511-513)TCG>TCC		dual specificity phosphatase 21							68.0	58.0	61.0					X																	44703891		2203	4300	6503	SO:0001819	synonymous_variant	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703891G>C	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.513G>C	X.37:g.44703891G>C							p.S171S	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			1	643	+			171					Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	c.513G>C	CCDS14264.1																																																																																				0.512	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		13	35	0	0	0	0	13	35				
ZXDA	7789	broad.mit.edu	37	X	57935809	57935809	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:57935809G>A	ENST00000358697.4	-	1	1258	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	349	Required for interaction with ZXDC.				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						CTTCATGTGCGCCTTGAGGTT	0.617																																						uc004dve.2		NA																	0				ovary(1)	1						c.(1045-1047)GCG>GTG		zinc finger, X-linked, duplicated A							64.0	57.0	59.0					X																	57935809		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:57935809G>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.1046C>T	X.37:g.57935809G>A	ENSP00000351530:p.Ala349Val						p.A349V	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1259	-			349			C2H2-type 3.|Required for interaction with ZXDC.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.1046C>T	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	19.65	3.867382	0.72065	.	.	ENSG00000198205	ENST00000358697	T	0.50277	0.75	3.45	3.45	0.39498	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	0.46464	0.1394	N	0.11870	0.19	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.39272	-0.9622	9	.	.	.	.	11.9651	0.53029	0.0:0.0:1.0:0.0	.	349	P98168	ZXDA_HUMAN	V	349	ENSP00000351530:A349V	.	A	-	2	0	ZXDA	57952534	1.000000	0.71417	0.947000	0.38551	0.968000	0.65278	3.668000	0.54554	1.967000	0.57214	0.415000	0.27848	GCG		0.617	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		16	23	0	0	0	0	16	23				
AR	367	broad.mit.edu	37	X	66765158	66765158	+	Missense_Mutation	SNP	T	T	A	rs78686797|rs3032358|rs4045402		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:66765158T>A	ENST00000374690.3	+	1	694	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	AR_ENST00000396044.3_Missense_Mutation_p.L57Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.L57Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	57	Modulating.|Poly-Leu.		L -> Q (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTGCTGCTGCTgcagcagcag	0.667									Androgen Insensitivity Syndrome																													uc004dwu.1		NA																	3	Substitution - Missense(3)		lung(1)|endometrium(1)|central_nervous_system(1)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(169-171)CTG>CAG		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						9.0	12.0	11.0					X																	66765158		2134	4208	6342	SO:0001583	missense	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765158T>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.170T>A	X.37:g.66765158T>A	ENSP00000363822:p.Leu57Gln					AR_uc011mpd.1_Missense_Mutation_p.L57Q|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.L57Q	p.L57Q	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	1285	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	57		L -> Q (in prostate cancer).	Poly-Leu.|Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.170T>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	N	0.020	-1.439011	0.01098	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.83992	-1.79;-1.79;-1.79	.	.	.	.	0.157526	0.30101	N	0.010412	T	0.56441	0.1985	N	0.03608	-0.345	0.09310	N	0.999999	.	.	.	.	.	.	T	0.48927	-0.8991	6	0.20519	T	0.43	.	.	.	.	.	57;57;55	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	57	ENSP00000363822:L57Q;ENSP00000421155:L57Q;ENSP00000379359:L57Q	ENSP00000363822:L57Q	L	+	2	0	AR	66681883	0.999000	0.42202	0.884000	0.34674	0.488000	0.33401	0.326000	0.19646	0.000000	0.14550	0.000000	0.15137	CTG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		5	19	0	0	0	0	5	19				
KIAA2022	340533	broad.mit.edu	37	X	73962796	73962796	+	Silent	SNP	G	G	C			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:73962796G>C	ENST00000055682.6	-	3	2207	c.1596C>G	c.(1594-1596)acC>acG	p.T532T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	532					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTCCTTACGGGTTACTTTTC	0.418																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1594-1596)ACC>ACG		hypothetical protein LOC340533							66.0	63.0	64.0					X																	73962796		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962796G>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1596C>G	X.37:g.73962796G>C							p.T532T	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2213	-			532					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.1596C>G	CCDS35337.1																																																																																				0.418	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		17	9	0	0	0	0	17	9				
MAGT1	84061	broad.mit.edu	37	X	77112989	77112989	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:77112989G>T	ENST00000358075.6	-	4	578	c.492C>A	c.(490-492)aaC>aaA	p.N164K		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	132	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGAATTCATGTTTAGCTGAA	0.368																																						uc004fof.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(490-492)AAC>AAA		magnesium transporter 1							85.0	82.0	83.0					X																	77112989		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77112989G>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.492C>A	X.37:g.77112989G>T	ENSP00000354649:p.Asn164Lys					MAGT1_uc004fog.3_RNA	p.N164K	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			4	554	-			132					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000358075.6	37	c.492C>A	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413988	0.25465	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	T	0.22539	1.95	4.85	3.98	0.46160	Thioredoxin-like fold (2);	0.052185	0.64402	U	0.000001	T	0.12944	0.0314	L	0.39020	1.185	0.80722	D	1	B	0.16396	0.017	B	0.15484	0.013	T	0.09530	-1.0670	10	0.02654	T	1	-8.6114	8.6158	0.33831	0.1847:0.0:0.8153:0.0	.	132	Q9H0U3	MAGT1_HUMAN	K	164;15	ENSP00000354649:N164K	ENSP00000354649:N164K	N	-	3	2	MAGT1	76999645	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.389000	0.34453	0.821000	0.34540	0.513000	0.50165	AAC		0.368	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		10	82	1	0	0.00185496	0.00318442	10	82				
BEX5	340542	broad.mit.edu	37	X	101408934	101408934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:101408934C>T	ENST00000543160.1	-	3	605	c.304G>A	c.(304-306)Gat>Aat	p.D102N	BEX5_ENST00000333643.3_Missense_Mutation_p.D102N|BEX5_ENST00000484837.1_5'Flank	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	102						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCATGATGATCATGGTGAGGA	0.418																																						uc010nnz.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(304-306)GAT>AAT		brain expressed, X-linked 5							230.0	177.0	195.0					X																	101408934		2203	4300	6503	SO:0001583	missense	340542					cytoplasm		g.chrX:101408934C>T	BC042818	CCDS35350.1	Xq22.1	2014-03-21	2008-11-04	2007-08-24	ENSG00000184515	ENSG00000184515			27990	protein-coding gene	gene with protein product		300693	"""NGFRAP1-like 1"", ""BEX family member 5"""	NGFRAP1L1		16221301	Standard	NM_001012978		Approved		uc004eir.3	Q5H9J7	OTTHUMG00000022049	ENST00000543160.1:c.304G>A	X.37:g.101408934C>T	ENSP00000446054:p.Asp102Asn					BEX5_uc004eir.2_Missense_Mutation_p.D102N	p.D102N	NM_001159560	NP_001153032	Q5H9J7	BEX5_HUMAN			3	606	-			102					Q569J0|Q56A74	Missense_Mutation	SNP	ENST00000543160.1	37	c.304G>A	CCDS35350.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367192	0.61513	.	.	ENSG00000184515	ENST00000543160;ENST00000333643	T;T	0.10668	2.85;2.85	4.0	3.12	0.35913	.	0.722521	0.11316	N	0.576501	T	0.16342	0.0393	M	0.81497	2.545	0.22684	N	0.998855	P	0.41624	0.757	B	0.40602	0.334	T	0.19257	-1.0311	10	0.72032	D	0.01	.	6.0961	0.20021	0.0:0.8585:0.0:0.1415	.	102	Q5H9J7	BEX5_HUMAN	N	102	ENSP00000446054:D102N;ENSP00000328030:D102N	ENSP00000328030:D102N	D	-	1	0	BEX5	101295590	1.000000	0.71417	0.995000	0.50966	0.816000	0.46133	1.188000	0.32102	1.040000	0.40099	0.544000	0.68410	GAT		0.418	BEX5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057607.1	XM_291335		36	25	0	0	0	0	36	25				
IRF9	10379	broad.mit.edu	37	14	24631429	24631450	+	Frame_Shift_Del	DEL	CCCGGAGTGTGCTGGGATGATA	CCCGGAGTGTGCTGGGATGATA	-	rs145197850	byFrequency	TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr14:24631429_24631450delCCCGGAGTGTGCTGGGATGATA	ENST00000396864.3	+	2	363_384	c.76_97delCCCGGAGTGTGCTGGGATGATA	c.(76-99)cccggagtgtgctgggatgatacafs	p.PGVCWDDT26fs	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	26					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D32N(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TGGGCAGTTTCCCGGAGTGTGCTGGGATGATACAGCTAAGAC	0.572																																						uc001wmq.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(76-99)CCCGGAGTGTGCTGGGATGATACAfs		interferon-stimulated transcription factor 3,																																				SO:0001589	frameshift_variant	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24631429_24631450delCCCGGAGTGTGCTGGGATGATA	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.76_97delCCCGGAGTGTGCTGGGATGATA	14.37:g.24631429_24631450delCCCGGAGTGTGCTGGGATGATA	ENSP00000380073:p.Pro26fs					RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank	p.P26fs	NM_006084	NP_006075	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	2	203_224	+			26_33			IRF tryptophan pentad repeat.		D3DS61	Frame_Shift_Del	DEL	ENST00000396864.3	37	c.76_97delCCCGGAGTGTGCTGGGATGATA	CCDS9615.1																																																																																				0.572	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			23	132	NA	NA	NA	NA	23	132	---	---	---	---
C17orf53	78995	broad.mit.edu	37	17	42230139	42230145	+	Splice_Site	DEL	GCGCAAG	GCGCAAG	-	rs372363245		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:42230139_42230145delGCGCAAG	ENST00000319977.4	+	5	1680_1686	c.1443_1449delGCGCAAG	c.(1441-1449)ctgcgcaag>ct	p.LRK481fs	C17orf53_ENST00000585683.1_Splice_Site_p.LRK481fs|C17orf53_ENST00000245382.6_Intron	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	481								p.R482L(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCATGGTGCTGCGCAAGGTAAGGATTC	0.541																																						uc002ifi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1441-1449)CTGCGCAAGfs		hypothetical protein LOC78995																																				SO:0001630	splice_region_variant	78995							g.chr17:42230139_42230145delGCGCAAG	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1449+1GCGCAAG>-	17.37:g.42230139_42230145delGCGCAAG						C17orf53_uc010czq.1_Frame_Shift_Del_p.L481fs|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	p.L481fs	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	1628_1634	+		Breast(137;0.0364)|Prostate(33;0.0376)	481_483					A8K7A9|Q9BWM9|Q9HAI1	Frame_Shift_Del	DEL	ENST00000319977.4	37	c.1443_1449delGCGCAAG	CCDS11477.1																																																																																				0.541	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032	Frame_Shift_Del	14	82	NA	NA	NA	NA	14	82	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48653249	48653251	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr17:48653249_48653251delCAC	ENST00000359106.5	+	8	1486_1488	c.1486_1488delCAC	c.(1486-1488)cacdel	p.H504del	CACNA1G_ENST00000502264.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510115.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000352832.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000416767.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.H504del	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	504	Poly-His.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCACCTGGTGcaccaccaccacc	0.7																																						uc002irk.1		NA																	0				breast(1)	1						c.(1486-1488)CACdel		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)		,,,,,,,,,,,,,,	41,3783		2,37,1873					,,,,,,,,,,,,,,	-8.2	0.7			15	139,7763		4,131,3816	no	coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding	CACNA1G	NM_198397.1,NM_198396.1,NM_198388.1,NM_198387.1,NM_198386.1,NM_198385.1,NM_198384.1,NM_198383.1,NM_198382.1,NM_198380.1,NM_198379.1,NM_198378.1,NM_198377.1,NM_198376.1,NM_018896.3	,,,,,,,,,,,,,,	6,168,5689	A1A1,A1R,RR		1.759,1.0722,1.5351	,,,,,,,,,,,,,,	,,,,,,,,,,,,,,		180,11546				SO:0001651	inframe_deletion	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48653249_48653251delCAC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1486_1488delCAC	17.37:g.48653258_48653260delCAC	ENSP00000352011:p.His504del					CACNA1G_uc002iri.1_In_Frame_Del_p.H504del|CACNA1G_uc002irj.1_In_Frame_Del_p.H504del|CACNA1G_uc002irl.1_In_Frame_Del_p.H504del|CACNA1G_uc002irm.1_In_Frame_Del_p.H504del|CACNA1G_uc002irn.1_In_Frame_Del_p.H504del|CACNA1G_uc002iro.1_In_Frame_Del_p.H504del|CACNA1G_uc002irp.1_In_Frame_Del_p.H504del|CACNA1G_uc002irq.1_In_Frame_Del_p.H504del|CACNA1G_uc002irr.1_In_Frame_Del_p.H504del|CACNA1G_uc002irs.1_In_Frame_Del_p.H504del|CACNA1G_uc002irt.1_In_Frame_Del_p.H504del|CACNA1G_uc002irv.1_In_Frame_Del_p.H504del|CACNA1G_uc002irw.1_In_Frame_Del_p.H504del|CACNA1G_uc002iru.1_In_Frame_Del_p.H504del|CACNA1G_uc002irx.1_In_Frame_Del_p.H417del|CACNA1G_uc002iry.1_In_Frame_Del_p.H417del|CACNA1G_uc002irz.1_In_Frame_Del_p.H417del|CACNA1G_uc002isa.1_In_Frame_Del_p.H417del|CACNA1G_uc002isb.1_In_Frame_Del_p.H417del|CACNA1G_uc002isc.1_In_Frame_Del_p.H417del|CACNA1G_uc002isd.1_In_Frame_Del_p.H417del|CACNA1G_uc002ise.1_In_Frame_Del_p.H417del|CACNA1G_uc002isf.1_In_Frame_Del_p.H417del|CACNA1G_uc002isg.1_In_Frame_Del_p.H417del|CACNA1G_uc002ish.1_In_Frame_Del_p.H417del|CACNA1G_uc002isi.1_In_Frame_Del_p.H417del	p.H504del	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	1858_1860	+	Breast(11;6.7e-17)		504			Cytoplasmic (Potential).|Poly-His.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	In_Frame_Del	DEL	ENST00000359106.5	37	c.1486_1488delCAC	CCDS45730.1																																																																																				0.700	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		2	4	NA	NA	NA	NA	2	4	---	---	---	---
DAPK3	1613	broad.mit.edu	37	19	3964890	3964890	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr19:3964890delA	ENST00000545797.2	-	3	405	c.162delT	c.(160-162)cgtfs	p.R54fs	DAPK3_ENST00000301264.3_Frame_Shift_Del_p.R54fs			O43293	DAPK3_HUMAN	death-associated protein kinase 3	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCACCCCACGCCGGCTGG	0.632																																						uc002lzc.1		NA																	0				central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7						c.(160-162)CGTfs		death-associated protein kinase 3							78.0	81.0	80.0					19																	3964890		2203	4300	6503	SO:0001589	frameshift_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964890delA	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.162delT	19.37:g.3964890delA	ENSP00000442973:p.Arg54fs					DAPK3_uc002lzd.1_Frame_Shift_Del_p.R54fs	p.R54fs	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	255	-		Hepatocellular(1079;0.137)	54			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Frame_Shift_Del	DEL	ENST00000545797.2	37	c.162delT	CCDS12116.1																																																																																				0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		18	58	NA	NA	NA	NA	18	58	---	---	---	---
NSUN7	79730	broad.mit.edu	37	4	40752855	40752856	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:40752855_40752856insT	ENST00000381782.2	+	2	640_641	c.145_146insT	c.(145-147)atgfs	p.M49fs	NSUN7_ENST00000316607.5_Frame_Shift_Ins_p.M49fs	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	49							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CGTTTATGTCATGGCAGCCAAC	0.515																																						uc003gvj.3		NA																	0					0						c.(145-147)ATGfs		NOL1/NOP2/Sun domain family, member 7																																				SO:0001589	frameshift_variant	79730							g.chr4:40752855_40752856insT	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.146dupT	4.37:g.40752856_40752856dupT	ENSP00000371201:p.Met49fs					NSUN7_uc003gvh.2_Frame_Shift_Ins_p.M49fs|NSUN7_uc003gvi.3_Frame_Shift_Ins_p.M49fs	p.M49fs	NM_024677	NP_078953					2	640_641	+								C9JI19|Q8N9K8|Q9H815	Frame_Shift_Ins	INS	ENST00000381782.2	37	c.145_146insT	CCDS3461.2																																																																																				0.515	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		29	118	NA	NA	NA	NA	29	118	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48550722	48550724	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr4:48550722_48550724delGAA	ENST00000503238.1	-	37	4870_4872	c.4871_4873delTTC	c.(4870-4875)cttcat>cat	p.L1624del	FRYL_ENST00000537810.1_In_Frame_Del_p.L1624del|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_In_Frame_Del_p.L1624del|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAAATTGCATGAAGAAGAAGATG	0.31																																						uc003gyh.1		NA																	0				skin(1)	1						c.(4870-4875)CTTCAT>CAT		furry-like																																				SO:0001651	inframe_deletion	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48550722_48550724delGAA	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4871_4873delTTC	4.37:g.48550728_48550730delGAA	ENSP00000426064:p.Leu1624del					FRYL_uc003gyg.1_In_Frame_Del_p.L320del|FRYL_uc003gyi.1_In_Frame_Del_p.L513del|FRYL_uc003gyj.1_5'Flank	p.L1624del	NM_015030	NP_055845	O94915	FRYL_HUMAN			40	5476_5478	-			1624					O95640|Q8WTZ5|Q9NT40	In_Frame_Del	DEL	ENST00000503238.1	37	c.4871_4873delTTC	CCDS43227.1																																																																																				0.310	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			12	39	NA	NA	NA	NA	12	39	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169648982	169648983	+	Frame_Shift_Del	DEL	CG	CG	-	rs534741032		TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr6:169648982_169648983delCG	ENST00000366787.3	-	4	387_388	c.138_139delCG	c.(136-141)cgcgggfs	p.G47fs		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	47	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R46R(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGTCGGGCCCGCGGAACTGCT	0.584																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(136-141)CGCGGGfs		thrombospondin 2 precursor																																				SO:0001589	frameshift_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648982_169648983delCG		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.138_139delCG	6.37:g.169648984_169648985delCG	ENSP00000355751:p.Gly47fs						p.R46fs	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	386_387	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	46_47			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Frame_Shift_Del	DEL	ENST00000366787.3	37	c.138_139delCG	CCDS34574.1																																																																																				0.584	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		24	34	NA	NA	NA	NA	24	34	---	---	---	---
PSIP1	11168	broad.mit.edu	37	9	15478476	15478485	+	Splice_Site	DEL	TGTCACTCTC	TGTCACTCTC	-			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chr9:15478476_15478485delTGTCACTCTC	ENST00000380733.4	-	8	962_971	c.619_628delGAGAGTGACA	c.(619-630)gagagtgacatc>tc	p.ESDI207fs	PSIP1_ENST00000380738.4_Splice_Site_p.ESDI207fs|PSIP1_ENST00000397519.2_Splice_Site_p.ESDI207fs|PSIP1_ENST00000380715.1_Splice_Site_p.ESDI207fs|PSIP1_ENST00000380716.4_Splice_Site_p.ESDI207fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	207					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TAAACTCACATGTCACTCTCTGAAGGACAG	0.338																																						uc003zlv.3		NA																	0				breast(1)	1						c.(619-630)GAGAGTGACATCfs		PC4 and SFRS1 interacting protein 1 isoform 2																																				SO:0001630	splice_region_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15478476_15478485delTGTCACTCTC	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.629+1GAGAGTGACA>-	9.37:g.15478476_15478485delTGTCACTCTC						PSIP1_uc003zlw.3_Frame_Shift_Del_p.E207fs|PSIP1_uc003zlz.3_Frame_Shift_Del_p.E207fs|PSIP1_uc003zma.3_Frame_Shift_Del_p.E198fs|PSIP1_uc003zly.2_Frame_Shift_Del_p.E207fs	p.E207fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	8	949_958	-			207_210					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Del	DEL	ENST00000380733.4	37	c.619_628delGAGAGTGACA	CCDS6479.1																																																																																				0.338	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222	Frame_Shift_Del	17	69	NA	NA	NA	NA	17	69	---	---	---	---
NYX	60506	broad.mit.edu	37	X	41333914	41333915	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6945-01A-11D-1912-08	TCGA-CV-6945-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fcfc9b74-5b8a-45b7-97ca-4e477e941e7c	0e82fe21-343e-4c8a-8b59-f1fd2261bebd	g.chrX:41333914_41333915insA	ENST00000342595.2	+	2	1664_1665	c.1208_1209insA	c.(1207-1212)ccagaafs	p.E404fs	NYX_ENST00000378220.1_Frame_Shift_Ins_p.E404fs	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	404					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GGCCCGTCCCCAGAACCAGCGG	0.698																																						uc004dfh.2		NA																	0				lung(2)	2						c.(1207-1209)CCAfs		nyctalopin precursor																																				SO:0001589	frameshift_variant	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333914_41333915insA	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1209dupA	X.37:g.41333915_41333915dupA	ENSP00000340328:p.Glu404fs					NYX_uc011mku.1_Frame_Shift_Ins_p.P398fs	p.P403fs	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN			2	1638_1639	+			403					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Frame_Shift_Ins	INS	ENST00000342595.2	37	c.1208_1209insA	CCDS14256.1																																																																																				0.698	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		6	12	NA	NA	NA	NA	6	12	---	---	---	---
