#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
SPATA21	374955	broad.mit.edu	37	1	16736455	16736455	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:16736455C>G	ENST00000335496.1	-	6	710	c.228G>C	c.(226-228)caG>caC	p.Q76H	SPATA21_ENST00000540400.1_Missense_Mutation_p.Q53H|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	76							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCCCGAGGCTCTGTGTCCCTG	0.657																																						uc001ayn.2		NA																	0				ovary(2)|breast(1)	3						c.(226-228)CAG>CAC		spermatogenesis associated 21							39.0	39.0	39.0					1																	16736455		2203	4300	6503	SO:0001583	missense	374955						calcium ion binding	g.chr1:16736455C>G		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.228G>C	1.37:g.16736455C>G	ENSP00000335612:p.Gln76His					SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.Q53H	p.Q76H	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	6	711	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	76					B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.228G>C	CCDS172.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712522	0.48517	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.73469	-0.75;-0.75	3.38	3.38	0.38709	.	1.396330	0.04693	N	0.414486	T	0.75413	0.3846	L	0.32530	0.975	0.09310	N	1	P;P	0.47677	0.899;0.894	P;P	0.51355	0.667;0.467	T	0.65425	-0.6171	10	0.87932	D	0	-4.6803	10.5392	0.45022	0.0:1.0:0.0:0.0	.	53;76	F5GXP5;Q7Z572	.;SPT21_HUMAN	H	76;53	ENSP00000335612:Q76H;ENSP00000440046:Q53H	ENSP00000335612:Q76H	Q	-	3	2	SPATA21	16609042	0.009000	0.17119	0.010000	0.14722	0.004000	0.04260	1.161000	0.31773	2.197000	0.70478	0.289000	0.19496	CAG		0.657	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		24	63	0	0	0	0	24	63				
NBPF1	55672	broad.mit.edu	37	1	16914293	16914293	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:16914293C>A	ENST00000430580.2	-	10	1381		c.e10-1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCGTCATTTTCTGTAAATACA	0.428																																						uc009vos.1		NA																	0					0						c.e10-1		hypothetical protein LOC55672							291.0	289.0	290.0					1																	16914293		1508	2704	4212	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16914293C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.494-1G>T	1.37:g.16914293C>A						NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron	p.E165_splice	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	10	1382	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.494_splice																																																																																					0.428	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	31	495	1	0	1.66e-12	2.26e-12	31	495				
KLHDC7A	127707	broad.mit.edu	37	1	18809211	18809211	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:18809211G>T	ENST00000400664.1	+	1	1788	c.1736G>T	c.(1735-1737)cGg>cTg	p.R579L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	579						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AACCAGGCCCGGCCGCACTGC	0.711																																						uc001bax.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1735-1737)CGG>CTG		kelch domain containing 7A							11.0	14.0	13.0					1																	18809211		2190	4277	6467	SO:0001583	missense	127707					integral to membrane		g.chr1:18809211G>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1736G>T	1.37:g.18809211G>T	ENSP00000383505:p.Arg579Leu					KLHDC7A_uc009vpg.2_Missense_Mutation_p.R361L	p.R579L	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1788	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	579			Kelch 3.		Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1736G>T	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017967	0.93404	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78481	-1.18	5.2	5.2	0.72013	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.93700	0.7987	H	0.99582	4.64	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96565	0.9418	10	0.87932	D	0	.	17.3105	0.87208	0.0:0.0:1.0:0.0	.	516;579	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	L	579;516	ENSP00000383505:R579L	ENSP00000383505:R579L	R	+	2	0	KLHDC7A	18681798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.578000	0.74032	2.423000	0.82170	0.561000	0.74099	CGG		0.711	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		9	21	1	0	7.48e-07	9.15e-07	9	21				
AIM1L	55057	broad.mit.edu	37	1	26648778	26648778	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:26648778G>A	ENST00000308182.5	-	18	2068	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	AIM1L_ENST00000527815.1_Missense_Mutation_p.P718S			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	547	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTGGGCTAGGGGGTCCAATC	0.617																																						uc001bmd.3		NA																	0				pancreas(1)	1						c.(1639-1641)CCT>TCT		absent in melanoma 1-like							42.0	44.0	43.0					1																	26648778		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26648778G>A			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1639C>T	1.37:g.26648778G>A	ENSP00000310435:p.Pro547Ser						p.P547S	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	18	2069	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	547			Ricin B-type lectin.		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1639C>T		.	.	.	.	.	.	.	.	.	.	G	13.38	2.219943	0.39201	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.24151	1.87;1.87	5.18	4.23	0.50019	Ricin B-related lectin (1);Ricin B lectin (3);	0.393945	0.30285	N	0.009968	T	0.14960	0.0361	N	0.16478	0.41	0.80722	D	1	B	0.22146	0.065	B	0.21151	0.033	T	0.05666	-1.0871	10	0.40728	T	0.16	.	9.1013	0.36669	0.0835:0.3072:0.6093:0.0	.	547	Q8N1P7	AIM1L_HUMAN	S	718;547	ENSP00000433931:P718S;ENSP00000310435:P547S	ENSP00000310435:P547S	P	-	1	0	AIM1L	26521365	0.973000	0.33851	1.000000	0.80357	0.950000	0.60333	1.938000	0.40203	2.425000	0.82216	0.561000	0.74099	CCT		0.617	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		24	65	0	0	0	0	24	65				
KIAA1522	57648	broad.mit.edu	37	1	33237601	33237601	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:33237601C>G	ENST00000373480.1	+	6	2747	c.2644C>G	c.(2644-2646)Ctg>Gtg	p.L882V	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.L941V|KIAA1522_ENST00000373481.3_Missense_Mutation_p.L893V	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	882	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCCTGCAGCCTGGCCGCCAG	0.682																																						uc001bvv.2		NA																	0					0						c.(2644-2646)CTG>GTG		hypothetical protein LOC57648							12.0	15.0	14.0					1																	33237601		1925	4119	6044	SO:0001583	missense	57648							g.chr1:33237601C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2644C>G	1.37:g.33237601C>G	ENSP00000362579:p.Leu882Val					KIAA1522_uc001bvu.1_Missense_Mutation_p.L941V|KIAA1522_uc010ohm.1_Missense_Mutation_p.L893V|KIAA1522_uc010ohn.1_Intron	p.L882V	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	2780	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	882			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.2644C>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902650	0.52227	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13778	2.56;2.56;2.57	5.09	4.18	0.49190	.	0.440058	0.19246	N	0.119044	T	0.11239	0.0274	L	0.43152	1.355	0.24406	N	0.99469	B;B;B	0.24823	0.112;0.112;0.112	B;B;B	0.27380	0.079;0.079;0.048	T	0.23013	-1.0200	10	0.28530	T	0.3	-2.426	5.3375	0.15965	0.0:0.5017:0.2915:0.2067	.	893;882;941	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	V	941;893;882	ENSP00000383851:L941V;ENSP00000362580:L893V;ENSP00000362579:L882V	ENSP00000362579:L882V	L	+	1	2	KIAA1522	33010188	0.873000	0.30073	0.960000	0.40013	0.883000	0.51084	1.201000	0.32259	1.276000	0.44395	0.650000	0.86243	CTG		0.682	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			4	36	0	0	0	0	4	36				
C1orf94	84970	broad.mit.edu	37	1	34666433	34666433	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:34666433G>T	ENST00000488417.1	+	3	1190	c.1070G>T	c.(1069-1071)tGg>tTg	p.W357L	C1orf94_ENST00000373374.3_Missense_Mutation_p.W167L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	357										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTCAGCCAGTGGCCCCAGAGC	0.587																																						uc001bxs.3		NA																	0					0						c.(499-501)TGG>TTG		hypothetical protein LOC84970 isoform b							69.0	66.0	67.0					1																	34666433		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34666433G>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1070G>T	1.37:g.34666433G>T	ENSP00000435634:p.Trp357Leu					C1orf94_uc001bxt.2_Missense_Mutation_p.W357L	p.W167L	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			3	899	+		Myeloproliferative disorder(586;0.0393)	167					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.500G>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005405	0.74932	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.48522	0.81;0.81	5.47	5.47	0.80525	.	0.000000	0.51477	D	0.000085	T	0.65101	0.2659	L	0.59436	1.845	0.41643	D	0.989085	D	0.89917	1.0	D	0.87578	0.998	T	0.67130	-0.5748	10	0.66056	D	0.02	-19.4344	14.81	0.69989	0.0:0.0:1.0:0.0	.	357	Q6P1W5	CA094_HUMAN	L	167;357	ENSP00000362472:W167L;ENSP00000435634:W357L	ENSP00000362472:W167L	W	+	2	0	C1orf94	34439020	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	3.174000	0.50847	2.556000	0.86216	0.655000	0.94253	TGG		0.587	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		38	65	1	0	3.09e-21	4.53e-21	38	65				
AGO4	192670	broad.mit.edu	37	1	36298098	36298098	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:36298098G>T	ENST00000373210.3	+	11	1551	c.1306G>T	c.(1306-1308)Gct>Tct	p.A436S		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	436					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GCAGTTTTATGCTGGCATTGA	0.368																																						uc001bzj.1		NA																	0				ovary(1)	1						c.(1306-1308)GCT>TCT		eukaryotic translation initiation factor 2C, 4							127.0	130.0	129.0					1																	36298098		2203	4300	6503	SO:0001583	missense	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36298098G>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1306G>T	1.37:g.36298098G>T	ENSP00000362306:p.Ala436Ser						p.A436S	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			11	1496	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	436					A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.1306G>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020030	0.35606	.	.	ENSG00000134698	ENST00000373210	T	0.04502	3.61	5.27	5.27	0.74061	.	0.161807	0.56097	D	0.000033	T	0.01287	0.0042	N	0.00119	-2.075	0.41847	D	0.990151	B	0.02656	0.0	B	0.06405	0.002	T	0.56062	-0.8041	10	0.22706	T	0.39	-7.3235	12.3126	0.54938	0.0771:0.0:0.9229:0.0	.	436	Q9HCK5	AGO4_HUMAN	S	436	ENSP00000362306:A436S	ENSP00000362306:A436S	A	+	1	0	EIF2C4	36070685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.412000	0.52679	2.486000	0.83907	0.650000	0.86243	GCT		0.368	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		23	55	1	0	1.5e-11	2.02e-11	23	55				
PTCH2	8643	broad.mit.edu	37	1	45294273	45294273	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:45294273C>G	ENST00000372192.3	-	12	1625	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	PTCH2_ENST00000447098.2_Missense_Mutation_p.G499R	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	499	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ACACTGGTGCCCGTGCGCTGC	0.632									Basal Cell Nevus syndrome																													uc010olf.1		NA																	0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(1495-1497)GGC>CGC		patched 2							98.0	74.0	82.0					1																	45294273		2203	4300	6503	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45294273C>G	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1495G>C	1.37:g.45294273C>G	ENSP00000361266:p.Gly499Arg					PTCH2_uc010olg.1_Missense_Mutation_p.G197R	p.G499R	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			12	1507	-	Acute lymphoblastic leukemia(166;0.155)		499			SSD.|Cytoplasmic (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1495G>C	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175491	0.78564	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.97710	-4.5;-4.5	4.47	4.47	0.54385	Sterol-sensing domain (1);	0.000000	0.64402	D	0.000001	D	0.99221	0.9729	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98768	1.0727	10	0.87932	D	0	-22.5562	16.9388	0.86210	0.0:1.0:0.0:0.0	.	499;499	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	R	499	ENSP00000389703:G499R;ENSP00000361266:G499R	ENSP00000361266:G499R	G	-	1	0	PTCH2	45066860	1.000000	0.71417	0.949000	0.38748	0.598000	0.36846	7.253000	0.78320	2.327000	0.79052	0.462000	0.41574	GGC		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		5	14	0	0	0	0	5	14				
RAD54L	8438	broad.mit.edu	37	1	46726971	46726971	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:46726971C>A	ENST00000371975.4	+	8	1479	c.805C>A	c.(805-807)Ccc>Acc	p.P269T	RAD54L_ENST00000442598.1_Missense_Mutation_p.P269T|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	269	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGTGTCTTCTCCCATCCTCAT	0.423								Direct reversal of damage;Homologous recombination																														uc009vye.2		NA																	0				ovary(2)|skin(1)	3						c.(805-807)CCC>ACC	Direct_reversal_of_damage|Homologous_recombination	RAD54-like protein							127.0	110.0	116.0					1																	46726971		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726971C>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.805C>A	1.37:g.46726971C>A	ENSP00000361043:p.Pro269Thr					RAD54L_uc001cpl.2_Missense_Mutation_p.P269T|RAD54L_uc001cpm.1_Missense_Mutation_p.P89T	p.P269T	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	9	919	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	269			Helicase ATP-binding.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.805C>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679240	0.68042	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93488	-3.23;-3.23	5.71	5.71	0.89125	DEAD-like helicase (2);SNF2-related (1);	0.050938	0.85682	D	0.000000	D	0.96272	0.8784	M	0.74467	2.265	0.80722	D	1	B;D	0.67145	0.052;0.996	B;D	0.74023	0.263;0.982	D	0.96093	0.9063	10	0.66056	D	0.02	-15.2134	15.6991	0.77528	0.0:0.8639:0.1361:0.0	.	89;269	G3V1N0;Q92698	.;RAD54_HUMAN	T	269;269;89	ENSP00000396113:P269T;ENSP00000361043:P269T	ENSP00000361043:P269T	P	+	1	0	RAD54L	46499558	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCC		0.423	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		20	44	1	0	0.00152264	0.00168448	20	44				
USP24	23358	broad.mit.edu	37	1	55545229	55545229	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:55545229C>A	ENST00000294383.6	-	60	7181	c.7182G>T	c.(7180-7182)ggG>ggT	p.G2394G	USP24_ENST00000407756.1_Silent_p.G2234G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2394					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGTAAGGTTTCCCTTCAGACA	0.433																																						uc001cyg.3		NA																	0				ovary(6)|kidney(6)|breast(1)	13						c.(6700-6702)GGG>GGT		ubiquitin specific protease 24							155.0	148.0	150.0					1																	55545229		1871	4115	5986	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55545229C>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7182G>T	1.37:g.55545229C>A							p.G2234G	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			57	6702	-			2394					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.6702G>T	CCDS44154.2																																																																																				0.433	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			31	113	1	0	7.11e-15	9.95e-15	31	113				
C8B	732	broad.mit.edu	37	1	57420405	57420405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:57420405G>A	ENST00000371237.4	-	4	553	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	C8B_ENST00000535057.1_Nonsense_Mutation_p.Q101*|C8B_ENST00000543257.1_Nonsense_Mutation_p.Q111*	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	163	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATTTCATGCTGACATTTTTTA	0.443																																						uc001cyp.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(487-489)CAG>TAG		complement component 8, beta polypeptide							180.0	149.0	159.0					1																	57420405		2203	4300	6503	SO:0001587	stop_gained	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57420405G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.487C>T	1.37:g.57420405G>A	ENSP00000360281:p.Gln163*					C8B_uc010oon.1_Nonsense_Mutation_p.Q101*|C8B_uc010ooo.1_Nonsense_Mutation_p.Q111*	p.Q163*	NM_000066	NP_000057	P07358	CO8B_HUMAN			4	554	-			163			MACPF.		A1L4K7	Nonsense_Mutation	SNP	ENST00000371237.4	37	c.487C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	40	7.953392	0.98580	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	.	.	.	5.87	3.87	0.44632	.	0.842042	0.11179	N	0.591202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-4.0E-4	2.4344	0.04479	0.1493:0.1327:0.4998:0.2182	.	.	.	.	X	163;111;101	.	ENSP00000360281:Q163X	Q	-	1	0	C8B	57192993	0.975000	0.34042	0.754000	0.31244	0.987000	0.75469	2.148000	0.42235	1.599000	0.50093	0.655000	0.94253	CAG		0.443	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			25	72	0	0	0	0	25	72				
RAVER2	55225	broad.mit.edu	37	1	65278490	65278490	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:65278490T>C	ENST00000294428.3	+	10	1828	c.1750T>C	c.(1750-1752)Tac>Cac	p.Y584H	RAVER2_ENST00000371072.4_Missense_Mutation_p.Y571H|RAVER2_ENST00000430964.2_Missense_Mutation_p.Y123H			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	584						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TAAAAATCCATACTTGAATTT	0.383																																						uc001dbs.1		NA																	0				large_intestine(1)	1						c.(1711-1713)TAC>CAC		ribonucleoprotein, PTB-binding 2							125.0	113.0	117.0					1																	65278490		1830	4091	5921	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65278490T>C	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1750T>C	1.37:g.65278490T>C	ENSP00000294428:p.Tyr584His					RAVER2_uc001dbt.1_Missense_Mutation_p.Y463H|RAVER2_uc010opb.1_Missense_Mutation_p.Y296H	p.Y571H	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			10	1789	+			584					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1711T>C		.	.	.	.	.	.	.	.	.	.	T	18.50	3.638025	0.67130	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	D;D;D	0.81821	-1.54;-1.54;-1.54	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	L	0.61218	1.895	0.37649	D	0.922337	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87952	0.2724	10	0.87932	D	0	-19.1181	13.8151	0.63287	0.0:0.0:0.0:1.0	.	584;571	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	H	571;584;123	ENSP00000360112:Y571H;ENSP00000294428:Y584H;ENSP00000408950:Y123H	ENSP00000294428:Y584H	Y	+	1	0	RAVER2	65051078	1.000000	0.71417	0.992000	0.48379	0.658000	0.38924	4.721000	0.61951	2.068000	0.61886	0.472000	0.43445	TAC		0.383	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		8	33	0	0	0	0	8	33				
WLS	79971	broad.mit.edu	37	1	68613868	68613868	+	Missense_Mutation	SNP	G	G	A	rs200839533		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:68613868G>A	ENST00000262348.4	-	8	1338	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	WLS_ENST00000354777.2_Missense_Mutation_p.T360M|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.T362M|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.T271M	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	362					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GAAGGGATTCGTGAGTTGTAC	0.443																																						uc001def.1		NA																	0					0						c.(1084-1086)ACG>ATG		G protein-coupled receptor 177 isoform 1							132.0	124.0	127.0					1																	68613868		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68613868G>A	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1085C>T	1.37:g.68613868G>A	ENSP00000262348:p.Thr362Met					uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.T360M|WLS_uc001deg.1_Missense_Mutation_p.T271M|WLS_uc009wbf.1_Missense_Mutation_p.T317M	p.T362M	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			8	1356	-			362			Lumenal (Potential).		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.1085C>T	CCDS642.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151792	0.38021	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.78	5.78	0.91487	.	0.148213	0.64402	D	0.000011	T	0.17916	0.0430	L	0.33485	1.01	0.39522	D	0.968529	P;B;B;P	0.40360	0.714;0.259;0.216;0.714	B;B;B;B	0.31101	0.124;0.088;0.06;0.124	T	0.07083	-1.0791	10	0.52906	T	0.07	-8.0184	13.3196	0.60426	0.0:0.0:0.7427:0.2573	.	362;271;362;360	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	M	362;360;362;271	ENSP00000446112:T362M;ENSP00000346829:T360M;ENSP00000262348:T362M;ENSP00000360015:T271M	ENSP00000262348:T362M	T	-	2	0	WLS	68386456	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	4.330000	0.59266	2.894000	0.99253	0.655000	0.94253	ACG		0.443	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		21	75	0	0	0	0	21	75				
ERICH3	127254	broad.mit.edu	37	1	75072489	75072489	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:75072489C>A	ENST00000326665.5	-	10	1503	c.1285G>T	c.(1285-1287)Ggg>Tgg	p.G429W	C1orf173_ENST00000420661.2_Missense_Mutation_p.G232W|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		429	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCACTTTCCCCTCAGCCTTC	0.403																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1285-1287)GGG>TGG		hypothetical protein LOC127254							147.0	141.0	143.0					1																	75072489		2203	4298	6501	SO:0001583	missense	127254							g.chr1:75072489C>A																												ENST00000326665.5:c.1285G>T	1.37:g.75072489C>A	ENSP00000322609:p.Gly429Trp					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.G223W	p.G429W	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1504	-			429			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1285G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944689	0.34283	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19394	2.61;2.15	4.37	2.39	0.29439	.	.	.	.	.	T	0.17492	0.0420	L	0.54323	1.7	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.65443	0.891;0.935	T	0.09443	-1.0674	9	0.66056	D	0.02	-1.0713	2.1428	0.03779	0.1429:0.4803:0.1982:0.1786	.	232;429	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	W	429;232	ENSP00000322609:G429W;ENSP00000398581:G232W	ENSP00000322609:G429W	G	-	1	0	C1orf173	74845077	0.000000	0.05858	0.038000	0.18304	0.025000	0.11179	0.356000	0.20181	0.337000	0.23665	-0.145000	0.13849	GGG		0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			44	107	1	0	2.25e-16	3.21e-16	44	107				
MSH4	4438	broad.mit.edu	37	1	76343943	76343943	+	Missense_Mutation	SNP	A	A	G	rs116549128	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:76343943A>G	ENST00000263187.3	+	11	1584	c.1480A>G	c.(1480-1482)Ata>Gta	p.I494V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	494					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTCTAACATAAATGAATT	0.318								Mismatch excision repair (MMR)					A|||	2	0.000399361	0.0015	0.0	5008	,	,		18352	0.0		0.0	False		,,,				2504	0.0					uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(1480-1482)ATA>GTA	MMR	mutS homolog 4		A	VAL/ILE	18,4388	25.3+/-52.1	0,18,2185	109.0	107.0	108.0		1480	3.2	1.0	1	dbSNP_132	108	0,8600		0,0,4300	yes	missense	MSH4	NM_002440.3	29	0,18,6485	GG,GA,AA		0.0,0.4085,0.1384	benign	494/937	76343943	18,12988	2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76343943A>G	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1480A>G	1.37:g.76343943A>G	ENSP00000263187:p.Ile494Val						p.I494V	NM_002440	NP_002431	O15457	MSH4_HUMAN			11	1521	+			494					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1480A>G	CCDS670.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	4.191	0.034028	0.08101	0.004085	0.0	ENSG00000057468	ENST00000263187	D	0.89415	-2.51	5.49	3.15	0.36227	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	N	0.12471	0.22	0.34769	D	0.733565	B	0.15141	0.012	B	0.24541	0.054	T	0.53344	-0.8452	10	0.25106	T	0.35	-0.0308	10.0447	0.42180	0.8604:0.0:0.1396:0.0	.	494	O15457	MSH4_HUMAN	V	494	ENSP00000263187:I494V	ENSP00000263187:I494V	I	+	1	0	MSH4	76116531	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.640000	0.67875	0.924000	0.37069	-0.256000	0.11100	ATA		0.318	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		11	24	0	0	0	0	11	24				
ST6GALNAC3	256435	broad.mit.edu	37	1	76877998	76877998	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:76877998G>A	ENST00000328299.3	+	3	667	c.519G>A	c.(517-519)ttG>ttA	p.L173L	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	173					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACAACATGTTGAAAAAGACAG	0.393																																						uc001dhh.2		NA																	0				ovary(3)|skin(2)	5						c.(517-519)TTG>TTA		sialyltransferase 7C isoform 1							107.0	105.0	105.0					1																	76877998		2203	4300	6503	SO:0001819	synonymous_variant	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877998G>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.519G>A	1.37:g.76877998G>A						ST6GALNAC3_uc001dhg.3_Silent_p.L173L|ST6GALNAC3_uc010orh.1_Silent_p.L108L	p.L173L	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			3	682	+			173			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Silent	SNP	ENST00000328299.3	37	c.519G>A	CCDS672.1																																																																																				0.393	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		19	68	0	0	0	0	19	68				
AK5	26289	broad.mit.edu	37	1	77763626	77763626	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:77763626G>A	ENST00000354567.2	+	5	956	c.693G>A	c.(691-693)gaG>gaA	p.E231E	AK5_ENST00000344720.5_Silent_p.E205E|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	231	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TATCTTTTGAGGACCAAGTAA	0.333																																						uc001dhn.2		NA																	0				skin(1)	1						c.(691-693)GAG>GAA		adenylate kinase 5 isoform 1							91.0	93.0	92.0					1																	77763626		2203	4300	6503	SO:0001819	synonymous_variant	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763626G>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.693G>A	1.37:g.77763626G>A						AK5_uc001dho.2_Silent_p.E205E|AK5_uc001dhm.1_Silent_p.E207E	p.E231E	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			5	950	+			231					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Silent	SNP	ENST00000354567.2	37	c.693G>A	CCDS675.1																																																																																				0.333	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		7	28	0	0	0	0	7	28				
HFM1	164045	broad.mit.edu	37	1	91846506	91846506	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:91846506G>T	ENST00000370425.3	-	7	934	c.836C>A	c.(835-837)cCa>cAa	p.P279Q	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	279					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTGAAATATGGAAATTCTTT	0.249																																						uc001doa.3		NA																	0					0						c.(835-837)CCA>CAA		HFM1 protein							57.0	68.0	65.0					1																	91846506		2198	4293	6491	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846506G>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.836C>A	1.37:g.91846506G>T	ENSP00000359454:p.Pro279Gln					HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.P279Q	p.P279Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	7	936	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	279					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.836C>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575905	0.65878	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.59224	0.28	5.81	5.81	0.92471	DEAD-like helicase (1);	0.000000	0.47093	U	0.000260	T	0.52853	0.1760	L	0.54323	1.7	0.80722	D	1	P;P	0.45569	0.861;0.861	P;B	0.45639	0.488;0.385	T	0.52624	-0.8551	10	0.42905	T	0.14	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	279;279	B7ZM16;A2PYH4	.;HFM1_HUMAN	Q	279;312;138	ENSP00000359454:P279Q	ENSP00000359454:P279Q	P	-	2	0	HFM1	91619094	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.150000	0.94667	2.746000	0.94184	0.655000	0.94253	CCA		0.249	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	41	1	0	2.18e-05	2.55e-05	7	41				
STXBP3	6814	broad.mit.edu	37	1	109315300	109315300	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:109315300A>G	ENST00000370008.3	+	7	502	c.452A>G	c.(451-453)gAt>gGt	p.D151G	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	151	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TATACTCTTGATGTACCAGAT	0.313																																						uc001dvy.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(451-453)GAT>GGT		syntaxin binding protein 3							90.0	81.0	84.0					1																	109315300		2203	4300	6503	SO:0001583	missense	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109315300A>G	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.452A>G	1.37:g.109315300A>G	ENSP00000359025:p.Asp151Gly					STXBP3_uc001dvz.2_RNA	p.D151G	NM_007269	NP_009200	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	7	527	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	151			Mediates interaction with DOC2B (By similarity).		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.452A>G	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	31	5.075700	0.94000	.	.	ENSG00000116266	ENST00000370008	T	0.80738	-1.41	6.06	6.06	0.98353	.	0.212632	0.48286	D	0.000191	T	0.76212	0.3956	M	0.66297	2.02	0.45272	D	0.998276	B	0.25351	0.124	B	0.34652	0.187	T	0.75841	-0.3175	10	0.49607	T	0.09	-18.5008	16.2713	0.82622	1.0:0.0:0.0:0.0	.	151	O00186	STXB3_HUMAN	G	151	ENSP00000359025:D151G	ENSP00000359025:D151G	D	+	2	0	STXBP3	109116823	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.856000	0.92245	2.323000	0.78572	0.528000	0.53228	GAT		0.313	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		11	25	0	0	0	0	11	25				
KCNA10	3744	broad.mit.edu	37	1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A	rs370455162		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	344					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R344C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTCACCAGGCGGATGATCCTC	0.577																																						uc001dzt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1030-1032)CGC>TGC		potassium voltage-gated channel, shaker-related		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	128.0	131.0		1030	5.6	1.0	1		131	0,8600		0,0,4300	no	missense	KCNA10	NM_005549.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	344/512	111060380	1,13005	2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060380G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1030C>T	1.37:g.111060380G>A	ENSP00000358786:p.Arg344Cys						p.R344C	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1418	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	344			Helical; Voltage-sensor; Name=Segment S4; (Potential).			Missense_Mutation	SNP	ENST00000369771.2	37	c.1030C>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215244	0.79352	2.27E-4	0.0	ENSG00000143105	ENST00000369771	D	0.99259	-5.64	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96505	0.9374	10	0.87932	D	0	.	18.3064	0.90184	0.0:0.0:1.0:0.0	.	344	Q16322	KCA10_HUMAN	C	344	ENSP00000358786:R344C	ENSP00000358786:R344C	R	-	1	0	KCNA10	110861903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.505000	0.73708	2.676000	0.91093	0.558000	0.71614	CGC		0.577	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		45	120	0	0	0	0	45	120				
KCNA3	3738	broad.mit.edu	37	1	111216792	111216792	+	Missense_Mutation	SNP	G	G	A	rs145190352	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:111216792G>A	ENST00000369769.2	-	1	863	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TGGAAGTCGCGGCGGGGCAAG	0.687													G|||	2	0.000399361	0.0	0.0	5008	,	,		14225	0.0		0.002	False		,,,				2504	0.0					uc001dzv.1		NA																	0				ovary(4)|pancreas(1)	5						c.(640-642)CGC>TGC		potassium voltage-gated channel, shaker-related		G	CYS/ARG	3,4395		0,3,2196	35.0	43.0	41.0		640	4.8	1.0	1	dbSNP_134	41	16,8560		0,16,4272	yes	missense	KCNA3	NM_002232.3	180	0,19,6468	AA,AG,GG		0.1866,0.0682,0.1464	possibly-damaging	214/576	111216792	19,12955	2199	4288	6487	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216792G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.640C>T	1.37:g.111216792G>A	ENSP00000358784:p.Arg214Cys						p.R214C	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	864	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	214					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.640C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858671	0.32791	6.82E-4	0.001866	ENSG00000177272	ENST00000369769	D	0.97041	-4.22	4.8	4.8	0.61643	.	0.538192	0.18185	U	0.149014	D	0.95284	0.8470	L	0.46885	1.475	0.39861	D	0.973373	D	0.56968	0.978	P	0.51657	0.676	D	0.95369	0.8462	10	0.72032	D	0.01	.	11.2982	0.49290	0.0:0.0:0.6818:0.3182	.	214	P22001	KCNA3_HUMAN	C	214	ENSP00000358784:R214C	ENSP00000358784:R214C	R	-	1	0	KCNA3	111018315	0.199000	0.23386	1.000000	0.80357	0.998000	0.95712	1.255000	0.32909	2.209000	0.71365	0.561000	0.74099	CGC		0.687	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		31	71	0	0	0	0	31	71				
PTPN22	26191	broad.mit.edu	37	1	114397155	114397155	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:114397155C>T	ENST00000359785.5	-	9	823	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.G230S|PTPN22_ENST00000528414.1_Missense_Mutation_p.G230S|PTPN22_ENST00000534519.1_5'Flank|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_5'UTR	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	230	Substrate binding.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCCACAGCCAGCACTGAAA	0.418																																						uc001eds.2		NA																	0				kidney(2)|lung(1)|skin(1)	4						c.(688-690)GGC>AGC		protein tyrosine phosphatase, non-receptor type							112.0	91.0	98.0					1																	114397155		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114397155C>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.688G>A	1.37:g.114397155C>T	ENSP00000352833:p.Gly230Ser					uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.G230S|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.G230S|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.G230S	p.G230S	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	818	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	230			Substrate binding.|Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.688G>A	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256901	0.95336	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000420377;ENST00000354605	D;T;D	0.96459	-4.02;-0.73;-4.02	5.97	5.97	0.96955	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	H	0.97918	4.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99274	1.0894	10	0.87932	D	0	.	19.185	0.93639	0.0:1.0:0.0:0.0	.	230;230;230;230	E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;PTN22_HUMAN	S	230	ENSP00000352833:G230S;ENSP00000435176:G230S;ENSP00000388229:G230S	ENSP00000346621:G230S	G	-	1	0	PTPN22	114198678	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.102000	0.77005	2.835000	0.97688	0.591000	0.81541	GGC		0.418	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		6	29	0	0	0	0	6	29				
PTGFRN	5738	broad.mit.edu	37	1	117487467	117487467	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:117487467C>T	ENST00000393203.2	+	3	732	c.585C>T	c.(583-585)agC>agT	p.S195S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	195	Ig-like C2-type 2.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCAGGCGGAGCGTCCTCGCCC	0.751																																						uc001egv.1		NA																	0				liver(1)	1						c.(583-585)AGC>AGT		prostaglandin F2 receptor negative regulator							11.0	10.0	10.0					1																	117487467		2179	4256	6435	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117487467C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.585C>T	1.37:g.117487467C>T							p.S195S	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	3	722	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	195			Ig-like C2-type 2.|Extracellular (Potential).		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.585C>T	CCDS890.1																																																																																				0.751	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		4	11	0	0	0	0	4	11				
CD101	9398	broad.mit.edu	37	1	117560848	117560848	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:117560848C>T	ENST00000256652.4	+	6	1741	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	CD101_ENST00000369470.1_Silent_p.S561S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	561	Ig-like C2-type 5.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGACCTGTCCTGTGTCGTGA	0.478																																						uc010oxb.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1681-1683)TCC>TCT		immunoglobulin superfamily, member 2 precursor							119.0	89.0	99.0					1																	117560848		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117560848C>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1683C>T	1.37:g.117560848C>T						CD101_uc009whd.2_Silent_p.S561S|CD101_uc010oxc.1_Silent_p.S561S|CD101_uc010oxd.1_Silent_p.S499S	p.S561S	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			6	1741	+			561			Extracellular (Potential).|Ig-like C2-type 5.		Q15856	Silent	SNP	ENST00000256652.4	37	c.1683C>T	CCDS891.1																																																																																				0.478	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		6	37	0	0	0	0	6	37				
FAM46C	54855	broad.mit.edu	37	1	118165682	118165682	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:118165682C>T	ENST00000369448.3	+	2	439	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	64										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGGCAGGCATCAAAGTGCACG	0.552			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												uc001ehe.2		NA		Rec	yes		1	1p12	54855		"""family with sequence similarity 46, member C"""			L					0					0						c.(190-192)ATC>ATT		hypothetical protein LOC54855							86.0	82.0	84.0					1																	118165682		2203	4300	6503	SO:0001819	synonymous_variant	54855							g.chr1:118165682C>T	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.192C>T	1.37:g.118165682C>T		Multiple Myeloma(3;1.13e-06)					p.I64I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	391	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	64					A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	ENST00000369448.3	37	c.192C>T	CCDS896.1																																																																																				0.552	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		30	80	0	0	0	0	30	80				
SPAG17	200162	broad.mit.edu	37	1	118624066	118624066	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:118624066C>G	ENST00000336338.5	-	14	2027	c.1962G>C	c.(1960-1962)atG>atC	p.M654I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	654						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGAGTATTCATTTTCATGA	0.408																																						uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(1960-1962)ATG>ATC		sperm associated antigen 17							173.0	167.0	169.0					1																	118624066		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118624066C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1962G>C	1.37:g.118624066C>G	ENSP00000337804:p.Met654Ile						p.M654I	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	14	2030	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	654					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1962G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432486	0.25813	.	.	ENSG00000155761	ENST00000336338	T	0.17528	2.27	5.12	3.2	0.36748	.	0.378221	0.31010	N	0.008428	T	0.09024	0.0223	L	0.56769	1.78	0.09310	N	1	D	0.53745	0.962	P	0.45681	0.49	T	0.09185	-1.0686	10	0.41790	T	0.15	.	9.2265	0.37410	0.0:0.7769:0.1454:0.0777	.	654	Q6Q759	SPG17_HUMAN	I	654	ENSP00000337804:M654I	ENSP00000337804:M654I	M	-	3	0	SPAG17	118425589	0.008000	0.16893	0.049000	0.19019	0.242000	0.25591	0.190000	0.17057	0.642000	0.30620	0.591000	0.81541	ATG		0.408	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		20	75	0	0	0	0	20	75				
NBPF8	728841	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C	rs375759831		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:144220807A>C	ENST00000369373.5	+	2	74	c.74A>C	c.(73-75)gAt>gCt	p.D25A				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	665						cytoplasm (GO:0005737)											GAGCTGCTGGATGAGAAAGAG	0.483																																						uc010oxr.1		NA																	0					0						c.(2179-2181)GAT>GCT		hypothetical protein LOC400818																																				SO:0001583	missense	400818					cytoplasm		g.chr1:144220807A>C	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.74A>C	1.37:g.144220807A>C	ENSP00000358380:p.Asp25Ala					NBPF9_uc010oxn.1_Missense_Mutation_p.D598A|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.D515A|NBPF9_uc001ekg.1_Missense_Mutation_p.D27A|NBPF9_uc001ekk.1_Missense_Mutation_p.D271A|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.D27A|uc010oxz.1_Missense_Mutation_p.D515A	p.D727A	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			19	2184	+			700			NBPF 5.			Missense_Mutation	SNP	ENST00000369373.5	37	c.2180A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.405|7.405	0.633647|0.633647	0.14322|0.14322	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.07021|.	3.23|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	0.80722|.	D|.	1.000000|.	P;.;B;B|.	0.52842|.	0.956;.;0.04;0.002|.	P;.;B;B|.	0.57502|.	0.822;.;0.074;0.015|.	T|.	0.29610|.	-1.0006|.	4|.	0.33940|.	T|.	0.23|.	.|.	.|.	.|.	.|.	.|.	431;598;373;440|.	Q5VTG8;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.|.	A|L	25|3576	ENSP00000358380:D25A|.	ENSP00000358380:D25A|.	D|M	+|+	2|1	0|0	RP3-377D14.1|RP3-377D14.1	142932164|142932164	0.533000|0.533000	0.26354|0.26354	.|.	.|.	.|.	.|.	0.868000|0.868000	0.27982|0.27982	.|.	.|.	.|.	.|.	GAT|ATG		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	104	0	0	0	0	15	104				
ACP6	51205	broad.mit.edu	37	1	147119326	147119326	+	Missense_Mutation	SNP	C	C	G	rs530452676		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:147119326C>G	ENST00000369238.6	-	10	1633	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	396					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AAGAACATGTCCAGCGGGCAG	0.502																																						uc001epr.2		NA																	0				ovary(4)	4						c.(1186-1188)GAC>CAC		acid phosphatase 6, lysophosphatidic precursor							110.0	106.0	107.0					1																	147119326		2203	4300	6503	SO:0001583	missense	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147119326C>G	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.1186G>C	1.37:g.147119326C>G	ENSP00000358241:p.Asp396His						p.D396H	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			10	1650	-	all_hematologic(923;0.0276)		396					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	c.1186G>C	CCDS928.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579737	0.28180	.	.	ENSG00000162836	ENST00000369238	T	0.49139	0.79	4.6	4.6	0.57074	.	0.220935	0.45606	D	0.000359	T	0.39860	0.1094	M	0.67953	2.075	0.80722	D	1	P	0.43287	0.802	B	0.44224	0.444	T	0.48375	-0.9041	10	0.66056	D	0.02	.	12.3207	0.54983	0.0:0.8292:0.1708:0.0	.	396	Q9NPH0	PPA6_HUMAN	H	396	ENSP00000358241:D396H	ENSP00000358241:D396H	D	-	1	0	ACP6	145585950	1.000000	0.71417	0.998000	0.56505	0.036000	0.12997	2.543000	0.45752	2.284000	0.76573	0.563000	0.77884	GAC		0.502	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		22	46	0	0	0	0	22	46				
TTC24	164118	broad.mit.edu	37	1	156554971	156554971	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:156554971A>G	ENST00000368237.3	+	7	1404	c.1404A>G	c.(1402-1404)aaA>aaG	p.K468K	AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Silent_p.K468K|TTC24_ENST00000478081.1_3'UTR			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	468										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAAGAAAAAAGAGGAGAGGT	0.562																																						uc009wsc.1		NA																	0				pancreas(1)	1						c.(562-564)AAA>AAG		tetratricopeptide repeat domain 24							65.0	78.0	74.0					1																	156554971		1947	4134	6081	SO:0001819	synonymous_variant	164118						binding	g.chr1:156554971A>G		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1404A>G	1.37:g.156554971A>G							p.K188K	NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN			6	704	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		468					Q5T3H7	Silent	SNP	ENST00000368237.3	37	c.564A>G	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	A	3.352	-0.132352	0.06753	.	.	ENSG00000187862	ENST00000340086	T	0.27104	1.69	3.54	-0.956	0.10353	.	.	.	.	.	T	0.03959	0.0111	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.43556	-0.9384	6	0.20046	T	0.44	-3.1687	3.4846	0.07615	0.3871:0.1995:0.4134:0.0	.	.	.	.	R	241	ENSP00000339487:K241R	ENSP00000339487:K241R	K	+	2	0	TTC24	154821595	0.023000	0.18921	0.000000	0.03702	0.015000	0.08874	-0.089000	0.11180	-0.306000	0.08818	-0.464000	0.05259	AAG		0.562	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		18	37	0	0	0	0	18	37				
FCRL4	83417	broad.mit.edu	37	1	157555966	157555966	+	Missense_Mutation	SNP	G	G	T	rs150996859		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:157555966G>T	ENST00000271532.1	-	6	1262	c.1127C>A	c.(1126-1128)aCt>aAt	p.T376N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	376					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACCTCTCACAGTGACATTCAG	0.488																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1126-1128)ACT>AAT		Fc receptor-like 4 precursor							98.0	87.0	91.0					1																	157555966		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157555966G>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1127C>A	1.37:g.157555966G>T	ENSP00000271532:p.Thr376Asn					FCRL4_uc010phy.1_RNA	p.T376N	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	1263	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	376			Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1127C>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164030	0.38217	.	.	ENSG00000163518	ENST00000271532	T	0.13778	2.56	4.23	3.31	0.37934	Immunoglobulin-like fold (1);	0.000000	0.40469	N	0.001092	T	0.03651	0.0104	L	0.28504	0.86	0.18873	N	0.999988	P	0.46656	0.882	B	0.43155	0.41	T	0.36089	-0.9762	10	0.24483	T	0.36	.	8.0856	0.30771	0.1118:0.0:0.8882:0.0	.	376	Q96PJ5	FCRL4_HUMAN	N	376	ENSP00000271532:T376N	ENSP00000271532:T376N	T	-	2	0	FCRL4	155822590	0.874000	0.30092	0.159000	0.22649	0.081000	0.17604	1.417000	0.34770	1.103000	0.41568	-0.373000	0.07131	ACT		0.488	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		40	85	1	0	3.09e-21	4.53e-21	40	85				
CD1D	912	broad.mit.edu	37	1	158151871	158151871	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:158151871C>T	ENST00000368171.3	+	4	877	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	126					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACCCTGGGAACGCCTCAAATA	0.493																																						uc001frr.2		NA																	0				ovary(1)	1						c.(376-378)AAC>AAT		CD1D antigen precursor							121.0	134.0	129.0					1																	158151871		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151871C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.378C>T	1.37:g.158151871C>T						CD1D_uc009wsr.1_Silent_p.N126N|CD1D_uc009wss.2_Silent_p.N126N|CD1D_uc009wst.1_Silent_p.N22N	p.N126N	NM_001766	NP_001757	P15813	CD1D_HUMAN			4	877	+	all_hematologic(112;0.0378)		126			Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.378C>T	CCDS1173.1																																																																																				0.493	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		55	169	0	0	0	0	55	169				
SELE	6401	broad.mit.edu	37	1	169696913	169696913	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:169696913C>A	ENST00000333360.7	-	9	1574	c.1435G>T	c.(1435-1437)Gga>Tga	p.G479*	SELE_ENST00000367777.1_Intron|SELE_ENST00000367779.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Nonsense_Mutation_p.G416*|SELE_ENST00000367782.4_Intron|SELE_ENST00000367775.1_Nonsense_Mutation_p.G354*|SELE_ENST00000367781.4_Nonsense_Mutation_p.G416*|SELE_ENST00000367774.1_Intron|SELE_ENST00000367780.4_Nonsense_Mutation_p.G354*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	479	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GTCCATTGTCCCTGAGATGTG	0.428																																						uc001ggm.3		NA																	0				ovary(3)|skin(2)	5						c.(1435-1437)GGA>TGA		selectin E precursor							133.0	127.0	129.0					1																	169696913		2203	4300	6503	SO:0001587	stop_gained	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169696913C>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1435G>T	1.37:g.169696913C>A	ENSP00000331736:p.Gly479*					C1orf112_uc001ggj.2_Intron	p.G479*	NM_000450	NP_000441	P16581	LYAM2_HUMAN			9	1592	-	all_hematologic(923;0.208)		479			Extracellular (Potential).|Sushi 5.		A2RRD6|P16111	Nonsense_Mutation	SNP	ENST00000333360.7	37	c.1435G>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	37	6.616601	0.97709	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	.	.	.	5.9	4.99	0.66335	.	0.172473	0.28273	N	0.015952	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-13.6924	13.5821	0.61909	0.0:0.9256:0.0:0.0744	.	.	.	.	X	416;354;479;354;416	.	ENSP00000331736:G479X	G	-	1	0	SELE	167963537	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	3.977000	0.56874	1.500000	0.48636	0.650000	0.86243	GGA		0.428	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		31	99	1	0	9.65e-13	1.32e-12	31	99				
ASTN1	460	broad.mit.edu	37	1	176903411	176903411	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:176903411C>A	ENST00000367654.3	-	16	2783	c.2572G>T	c.(2572-2574)Gac>Tac	p.D858Y	ASTN1_ENST00000361833.2_Missense_Mutation_p.D850Y|ASTN1_ENST00000424564.2_Missense_Mutation_p.D850Y|ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000367657.3_Missense_Mutation_p.D850Y	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	858					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCGAACTGGTCCAACAGCGCC	0.542																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2548-2550)GAC>TAC		astrotactin isoform 1							117.0	96.0	103.0					1																	176903411		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903411C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2572G>T	1.37:g.176903411C>A	ENSP00000356626:p.Asp858Tyr					ASTN1_uc001glb.1_Missense_Mutation_p.D850Y|ASTN1_uc001gld.1_Missense_Mutation_p.D850Y	p.D850Y	NM_004319	NP_004310	O14525	ASTN1_HUMAN			16	2760	-			858					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2548G>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.097284	0.76870	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.91	5.91	0.95273	.	0.259771	0.46758	D	0.000271	T	0.39118	0.1066	N	0.08118	0	0.44508	D	0.99745	P;P	0.51351	0.944;0.944	P;P	0.51135	0.66;0.66	T	0.43032	-0.9416	10	0.72032	D	0.01	-27.496	13.1445	0.59452	0.0:0.9269:0.0:0.0731	.	850;850	O14525-2;B1AJS1	.;.	Y	850;850;858;850;850	ENSP00000356629:D850Y;ENSP00000354536:D850Y;ENSP00000356626:D858Y;ENSP00000395041:D850Y	ENSP00000354536:D850Y	D	-	1	0	ASTN1	175170034	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.643000	0.54374	2.793000	0.96121	0.655000	0.94253	GAC		0.542	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		26	52	1	0	7.34e-06	8.72e-06	26	52				
TPR	7175	broad.mit.edu	37	1	186337063	186337063	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:186337063T>C	ENST00000367478.4	-	4	678	c.382A>G	c.(382-384)Att>Gtt	p.I128V	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	128					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGGTTCTAATTAAGTCTCTT	0.323			T	NTRK1	papillary thyroid																																	uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(382-384)ATT>GTT		nuclear pore complex-associated protein TPR							170.0	156.0	160.0					1																	186337063		1824	4076	5900	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186337063T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.382A>G	1.37:g.186337063T>C	ENSP00000356448:p.Ile128Val					TPR_uc010pop.1_Missense_Mutation_p.I204V	p.I128V	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	4	679	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	128			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.382A>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	4.424	0.078342	0.08485	.	.	ENSG00000047410	ENST00000367478	T	0.20332	2.08	6.08	-3.07	0.05363	.	0.500790	0.22405	N	0.060494	T	0.05914	0.0154	N	0.02539	-0.55	0.25088	N	0.990873	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40757	-0.9546	10	0.10902	T	0.67	.	9.6359	0.39806	0.0:0.576:0.1245:0.2996	.	128;128	Q15624;P12270	.;TPR_HUMAN	V	128	ENSP00000356448:I128V	ENSP00000356448:I128V	I	-	1	0	TPR	184603686	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	1.658000	0.37376	-0.394000	0.07727	-0.353000	0.07706	ATT		0.323	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		10	20	0	0	0	0	10	20				
ASPM	259266	broad.mit.edu	37	1	197070947	197070947	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197070947T>C	ENST00000367409.4	-	18	7690	c.7434A>G	c.(7432-7434)caA>caG	p.Q2478Q	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2478	IQ 26. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTGCATTTCTTGTAACTTCT	0.363																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(7432-7434)CAA>CAG		asp (abnormal spindle)-like, microcephaly							96.0	97.0	97.0					1																	197070947		2203	4298	6501	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070947T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7434A>G	1.37:g.197070947T>C						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.Q326Q	p.Q2478Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7691	-			2478			IQ 26.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.7434A>G	CCDS1389.1																																																																																				0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		23	88	0	0	0	0	23	88				
CRB1	23418	broad.mit.edu	37	1	197397023	197397023	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197397023A>T	ENST00000367400.3	+	7	2703	c.2568A>T	c.(2566-2568)agA>agT	p.R856S	CRB1_ENST00000367397.1_Missense_Mutation_p.R237S|CRB1_ENST00000544212.1_Missense_Mutation_p.R337S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.R744S|CRB1_ENST00000535699.1_Missense_Mutation_p.R787S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	856	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAGATGTAAGACTAAACAACC	0.408																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(2566-2568)AGA>AGT		crumbs homolog 1 precursor							95.0	90.0	91.0					1																	197397023		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197397023A>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2568A>T	1.37:g.197397023A>T	ENSP00000356370:p.Arg856Ser					CRB1_uc010poz.1_Missense_Mutation_p.R787S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.R744S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.R337S|CRB1_uc001gub.1_Missense_Mutation_p.R505S	p.R856S	NM_201253	NP_957705	P82279	CRUM1_HUMAN			7	2703	+			856			Extracellular (Potential).|Laminin G-like 2.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2568A>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929773	0.52759	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.80653	-1.26;-1.4;-1.4;-1.4;-1.4	4.67	2.32	0.28847	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.87124	0.6099	M	0.86343	2.81	0.47065	D	0.999301	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.87578	0.997;0.99;0.99;0.998	D	0.84126	0.0409	9	0.10377	T	0.69	.	7.6585	0.28389	0.7592:0.0:0.2408:0.0	.	787;744;505;856	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	S	787;856;744;337;237;505	ENSP00000438786:R787S;ENSP00000356370:R856S;ENSP00000356369:R744S;ENSP00000444556:R337S;ENSP00000356367:R237S	ENSP00000356367:R237S	R	+	3	2	CRB1	195663646	0.986000	0.35501	0.138000	0.22173	0.623000	0.37688	1.819000	0.39022	0.254000	0.21573	-0.263000	0.10527	AGA		0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		9	20	0	0	0	0	9	20				
LHX9	56956	broad.mit.edu	37	1	197896918	197896918	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:197896918T>C	ENST00000367387.4	+	4	1356	c.931T>C	c.(931-933)Ttg>Ctg	p.L311L	LHX9_ENST00000367390.3_Silent_p.L302L|LHX9_ENST00000561173.1_Silent_p.L317L|LHX9_ENST00000337020.2_Silent_p.L311L|LHX9_ENST00000367391.1_Silent_p.L302L	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	311					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CAAAAGAGTTTTGCAGGTAAG	0.483																																						uc001guk.1		NA																	0				ovary(1)	1						c.(931-933)TTG>CTG		LIM homeobox 9 isoform 1							97.0	88.0	91.0					1																	197896918		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197896918T>C	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.931T>C	1.37:g.197896918T>C						LHX9_uc001gui.1_Silent_p.L302L|LHX9_uc001guj.1_Silent_p.L317L	p.L311L	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			4	1368	+			311			Homeobox.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.931T>C	CCDS1393.1																																																																																				0.483	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		17	63	0	0	0	0	17	63				
PRELP	5549	broad.mit.edu	37	1	203453274	203453274	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:203453274A>G	ENST00000343110.2	+	2	1089	c.962A>G	c.(961-963)aAt>aGt	p.N321S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	321					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCAACAACAATAGCATCGAG	0.572																																						uc001gzs.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(961-963)AAT>AGT		proline arginine-rich end leucine-rich repeat							25.0	29.0	27.0					1																	203453274		2175	4208	6383	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203453274A>G	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.962A>G	1.37:g.203453274A>G	ENSP00000343924:p.Asn321Ser					PRELP_uc001gzt.2_Missense_Mutation_p.N321S	p.N321S	NM_002725	NP_002716	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	1162	+			321			LRR 10.		Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.962A>G	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992173	0.74703	.	.	ENSG00000188783	ENST00000343110	T	0.09817	2.94	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	L	0.36672	1.1	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.01081	-1.1458	10	0.87932	D	0	-8.9368	13.134	0.59399	1.0:0.0:0.0:0.0	.	321	P51888	PRELP_HUMAN	S	321	ENSP00000343924:N321S	ENSP00000343924:N321S	N	+	2	0	PRELP	201719897	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	9.332000	0.96446	1.797000	0.52628	0.379000	0.24179	AAT		0.572	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		15	36	0	0	0	0	15	36				
REN	5972	broad.mit.edu	37	1	204130517	204130517	+	Silent	SNP	G	G	A	rs373309460		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:204130517G>A	ENST00000272190.8	-	3	304	c.276C>T	c.(274-276)atC>atT	p.I92I	REN_ENST00000367195.2_Silent_p.I92I	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	92					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGGGGTGCCGATGCCAATCT	0.582																																						uc001haq.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(274-276)ATC>ATT		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)	G		0,4406		0,0,2203	55.0	47.0	50.0		276	-6.5	0.9	1		50	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	REN	NM_000537.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		92/407	204130517	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204130517G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.276C>T	1.37:g.204130517G>A							p.I92I	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	320	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		92					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.276C>T	CCDS30981.1																																																																																				0.582	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		6	24	0	0	0	0	6	24				
KISS1	3814	broad.mit.edu	37	1	204159795	204159795	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:204159795G>T	ENST00000367194.4	-	3	382	c.234C>A	c.(232-234)tcC>tcA	p.S78S		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	78					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		GGGGGCTCCCGGAGCTCTCGG	0.751																																						uc001har.2		NA																	0				ovary(1)	1						c.(232-234)TCC>TCA		KiSS-1 metastasis-suppressor							4.0	5.0	5.0					1																	204159795		1263	3136	4399	SO:0001819	synonymous_variant	3814				cytoskeleton organization	extracellular region	protein binding	g.chr1:204159795G>T	U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.234C>A	1.37:g.204159795G>T							p.S78S	NM_002256	NP_002247	Q15726	KISS1_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)	3	388	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	78					A8K6N0|Q9HBP1	Silent	SNP	ENST00000367194.4	37	c.234C>A	CCDS41454.1																																																																																				0.751	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087892.1	NM_002256		5	13	1	0	1.02e-07	1.28e-07	5	13				
KLHDC8A	55220	broad.mit.edu	37	1	205308834	205308834	+	Missense_Mutation	SNP	G	G	A	rs17853535		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:205308834G>A	ENST00000367156.3	-	6	1295	c.479C>T	c.(478-480)cCc>cTc	p.P160L	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.P160L|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.P160L|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.P47L|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.P26L	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	160				P -> H (in Ref. 4; AAH36076). {ECO:0000305}.						breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGTGGGCATGGGTGCTAGGGA	0.567																																						uc001hcf.1		NA																	0				ovary(1)	1						c.(478-480)CCC>CTC		kelch domain containing 8A							180.0	148.0	159.0					1																	205308834		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205308834G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.479C>T	1.37:g.205308834G>A	ENSP00000356124:p.Pro160Leu					KLHDC8A_uc010prg.1_Missense_Mutation_p.P47L|KLHDC8A_uc001hcg.1_Missense_Mutation_p.P160L	p.P160L	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1047	-	Breast(84;0.23)		160	P -> H (in Ref. 4; AAH36076).		Kelch 4.		B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.479C>T	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928454	0.73327	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.87	4.95	0.65309	Kelch-type beta propeller (1);	0.161069	0.56097	D	0.000030	T	0.77226	0.4099	M	0.81341	2.54	0.58432	D	0.999999	B;B	0.30686	0.29;0.19	B;B	0.31495	0.131;0.081	T	0.78425	-0.2209	10	0.72032	D	0.01	-17.6844	16.0571	0.80814	0.0:0.0:0.8646:0.1354	.	47;160	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	L	160;160;160;47	ENSP00000356123:P160L;ENSP00000356124:P160L;ENSP00000442229:P160L;ENSP00000443447:P47L	ENSP00000356123:P160L	P	-	2	0	KLHDC8A	203575457	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.937000	0.87672	1.471000	0.48121	0.655000	0.94253	CCC		0.567	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		12	50	0	0	0	0	12	50				
PM20D1	148811	broad.mit.edu	37	1	205797807	205797807	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:205797807C>G	ENST00000367136.4	-	13	1494	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	484					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGAATCAACTCAAAGATGAAT	0.512																																						uc001hdj.2		NA																	0				skin(1)	1						c.(1450-1452)GAG>CAG		peptidase M20 domain containing 1 precursor							166.0	149.0	155.0					1																	205797807		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205797807C>G		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.1450G>C	1.37:g.205797807C>G	ENSP00000356104:p.Glu484Gln					PM20D1_uc009xbr.2_RNA	p.E484Q	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		13	1495	-	Breast(84;0.201)		484					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.1450G>C	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	c	11.96	1.793742	0.31685	.	.	ENSG00000162877	ENST00000367136	T	0.54675	0.56	6.06	6.06	0.98353	.	0.351137	0.33161	N	0.005206	T	0.40473	0.1118	N	0.17922	0.545	0.36733	D	0.881823	B	0.20988	0.05	B	0.24701	0.055	T	0.36456	-0.9747	10	0.23891	T	0.37	.	16.1209	0.81357	0.0:1.0:0.0:0.0	.	484	Q6GTS8	P20D1_HUMAN	Q	484	ENSP00000356104:E484Q	ENSP00000356104:E484Q	E	-	1	0	PM20D1	204064430	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.216000	0.42871	2.882000	0.98803	0.655000	0.94253	GAG		0.512	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		23	41	0	0	0	0	23	41				
PLXNA2	5362	broad.mit.edu	37	1	208224624	208224624	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:208224624G>C	ENST00000367033.3	-	16	3895	c.3138C>G	c.(3136-3138)atC>atG	p.I1046M		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1046	IPT/TIG 3.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTCTGGCTCGATGCGCTGGA	0.592																																						uc001hgz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3136-3138)ATC>ATG		plexin A2 precursor							81.0	69.0	73.0					1																	208224624		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208224624G>C	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3138C>G	1.37:g.208224624G>C	ENSP00000356000:p.Ile1046Met						p.I1046M	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	16	3896	-			1046			Extracellular (Potential).|IPT/TIG 3.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3138C>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376462	0.61735	.	.	ENSG00000076356	ENST00000367033	D	0.82255	-1.59	5.09	-10.2	0.00374	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.048111	0.85682	D	0.000000	D	0.83175	0.5197	M	0.68317	2.08	0.51233	D	0.999911	D	0.61697	0.99	D	0.63597	0.916	D	0.87070	0.2159	10	0.72032	D	0.01	.	9.16	0.37016	0.6234:0.0:0.2158:0.1607	.	1046	O75051	PLXA2_HUMAN	M	1046	ENSP00000356000:I1046M	ENSP00000356000:I1046M	I	-	3	3	PLXNA2	206291247	0.001000	0.12720	0.827000	0.32855	0.946000	0.59487	-1.768000	0.01794	-1.809000	0.01232	-1.012000	0.02466	ATC		0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		9	38	0	0	0	0	9	38				
SERTAD4	56256	broad.mit.edu	37	1	210415652	210415652	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:210415652A>G	ENST00000367012.3	+	4	1271	c.1041A>G	c.(1039-1041)aaA>aaG	p.K347K		NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	347						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CAAGTAACAAACTGTGCTGCA	0.358																																						uc001hhy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1039-1041)AAA>AAG		SERTA domain containing 4							52.0	52.0	52.0					1																	210415652		2201	4299	6500	SO:0001819	synonymous_variant	56256						protein binding	g.chr1:210415652A>G	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.1041A>G	1.37:g.210415652A>G						SERTAD4_uc009xcw.2_Silent_p.K347K	p.K347K	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	1220	+			347					B2RD32	Silent	SNP	ENST00000367012.3	37	c.1041A>G	CCDS1494.1																																																																																				0.358	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		10	34	0	0	0	0	10	34				
USH2A	7399	broad.mit.edu	37	1	215990367	215990367	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:215990367C>T	ENST00000307340.3	-	48	9928	c.9542G>A	c.(9541-9543)gGa>gAa	p.G3181E	USH2A_ENST00000366943.2_Missense_Mutation_p.G3181E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3181	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAATGTGTCCACAGATAGA	0.388										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(9541-9543)GGA>GAA		usherin isoform B							154.0	139.0	144.0					1																	215990367		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215990367C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9542G>A	1.37:g.215990367C>T	ENSP00000305941:p.Gly3181Glu	HNSCC(13;0.011)					p.G3181E	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	48	9929	-			3181			Extracellular (Potential).|Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9542G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962756	0.74016	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.24151	1.88;1.87	5.59	5.59	0.84812	Fibronectin, type III (2);	0.000000	0.43919	D	0.000502	T	0.56906	0.2017	M	0.83012	2.62	0.58432	D	0.999994	D	0.89917	1.0	D	0.72075	0.976	T	0.60224	-0.7305	10	0.59425	D	0.04	.	19.5963	0.95541	0.0:1.0:0.0:0.0	.	3181	O75445	USH2A_HUMAN	E	3181	ENSP00000305941:G3181E;ENSP00000355910:G3181E	ENSP00000305941:G3181E	G	-	2	0	USH2A	214056990	1.000000	0.71417	0.997000	0.53966	0.568000	0.35870	3.779000	0.55379	2.648000	0.89879	0.561000	0.74099	GGA		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		20	65	0	0	0	0	20	65				
USH2A	7399	broad.mit.edu	37	1	216172316	216172316	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:216172316C>A	ENST00000307340.3	-	34	6956	c.6570G>T	c.(6568-6570)tgG>tgT	p.W2190C	USH2A_ENST00000366943.2_Missense_Mutation_p.W2190C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2190	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATGACACTCCAAATTGTAA	0.338										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6568-6570)TGG>TGT		usherin isoform B							144.0	139.0	141.0					1																	216172316		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216172316C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6570G>T	1.37:g.216172316C>A	ENSP00000305941:p.Trp2190Cys	HNSCC(13;0.011)					p.W2190C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	34	6957	-			2190			Extracellular (Potential).|Fibronectin type-III 8.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6570G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708715	0.68615	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.14022	2.55;2.54	5.56	5.56	0.83823	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.39834	U	0.001254	T	0.41789	0.1174	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.15150	-1.0447	10	0.39692	T	0.17	.	19.533	0.95237	0.0:1.0:0.0:0.0	.	2190	O75445	USH2A_HUMAN	C	2190	ENSP00000305941:W2190C;ENSP00000355910:W2190C	ENSP00000305941:W2190C	W	-	3	0	USH2A	214238939	1.000000	0.71417	0.975000	0.42487	0.935000	0.57460	4.351000	0.59398	2.604000	0.88044	0.591000	0.81541	TGG		0.338	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		17	55	1	0	9.17e-09	1.18e-08	17	55				
MIA3	375056	broad.mit.edu	37	1	222803552	222803552	+	Missense_Mutation	SNP	G	G	C	rs527835375		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:222803552G>C	ENST00000344922.5	+	4	3015	c.2990G>C	c.(2989-2991)cGt>cCt	p.R997P	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.R997P	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	997					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTTGATACTCGTGTGGCTGAA	0.408																																						uc001hnl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2989-2991)CGT>CCT		melanoma inhibitory activity family, member 3							84.0	81.0	82.0					1																	222803552		1905	4129	6034	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222803552G>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2990G>C	1.37:g.222803552G>C	ENSP00000340900:p.Arg997Pro					MIA3_uc009xea.1_Missense_Mutation_p.R833P	p.R997P	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	2999	+			997			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.2990G>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386745	0.25031	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831	T;T	0.08008	3.14;3.14	5.25	3.34	0.38264	.	.	.	.	.	T	0.23410	0.0566	M	0.63843	1.955	0.09310	N	1	D;B	0.67145	0.996;0.02	D;B	0.67231	0.95;0.011	T	0.04737	-1.0930	9	0.54805	T	0.06	.	11.7033	0.51583	0.0699:0.0:0.8059:0.1242	.	997;997	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	P	997	ENSP00000340900:R997P;ENSP00000340587:R997P	ENSP00000325973:R997P	R	+	2	0	MIA3	220870175	0.091000	0.21658	0.000000	0.03702	0.000000	0.00434	1.379000	0.34340	0.298000	0.22638	-1.598000	0.00824	CGT		0.408	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		32	52	0	0	0	0	32	52				
PRSS38	339501	broad.mit.edu	37	1	228033818	228033818	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:228033818C>A	ENST00000366757.3	+	5	914	c.890C>A	c.(889-891)aCt>aAt	p.T297N		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	297						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATCACGCCCACTCCTGCTCAG	0.562																																						uc001hrh.2		NA																	0				ovary(1)|pancreas(1)	2						c.(889-891)ACT>AAT		marapsin 2 precursor							79.0	76.0	77.0					1																	228033818		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228033818C>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.890C>A	1.37:g.228033818C>A	ENSP00000355719:p.Thr297Asn						p.T297N	NM_183062	NP_898885	A1L453	PRS38_HUMAN			5	890	+			297					Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.890C>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	C	4.292	0.053472	0.08291	.	.	ENSG00000185888	ENST00000366757	D	0.88586	-2.4	4.73	-9.46	0.00597	.	4.396110	0.01134	N	0.006059	T	0.72748	0.3499	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65438	-0.6168	10	0.17369	T	0.5	.	7.5808	0.27963	0.3378:0.4868:0.0:0.1754	.	297	A1L453	PRS38_HUMAN	N	297	ENSP00000355719:T297N	ENSP00000355719:T297N	T	+	2	0	PRSS38	226100441	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.372000	0.01073	-2.420000	0.00564	-0.471000	0.05019	ACT		0.562	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		15	69	1	0	1.05e-09	1.38e-09	15	69				
ACTN2	88	broad.mit.edu	37	1	236914832	236914832	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:236914832G>T	ENST00000366578.4	+	15	1885	c.1719G>T	c.(1717-1719)caG>caT	p.Q573H	ACTN2_ENST00000542672.1_Missense_Mutation_p.Q573H|ACTN2_ENST00000546208.1_Missense_Mutation_p.Q67H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	573					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGAGCGGCAGTCCATCATGG	0.547																																						uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(1717-1719)CAG>CAT		actinin, alpha 2							96.0	81.0	86.0					1																	236914832		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236914832G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1719G>T	1.37:g.236914832G>T	ENSP00000355537:p.Gln573His					ACTN2_uc001hyg.2_Missense_Mutation_p.Q365H|ACTN2_uc009xgi.1_Missense_Mutation_p.Q573H|ACTN2_uc010pxu.1_Missense_Mutation_p.Q262H|ACTN2_uc001hyh.2_Missense_Mutation_p.Q261H	p.Q573H	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		15	1923	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	573			Spectrin 3.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1719G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662176	0.47572	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.52754	0.65;0.65;0.65	5.08	5.08	0.68730	.	0.877785	0.10303	N	0.690900	T	0.63390	0.2507	L	0.46157	1.445	0.53688	D	0.999977	P;B;P;P	0.50819	0.726;0.001;0.902;0.939	P;B;P;D	0.74348	0.768;0.038;0.834;0.983	T	0.55909	-0.8066	10	0.54805	T	0.06	.	12.8721	0.57970	0.0786:0.0:0.9214:0.0	.	358;573;343;573	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	H	573;573;67;342	ENSP00000443495:Q573H;ENSP00000355537:Q573H;ENSP00000438384:Q67H	ENSP00000355537:Q573H	Q	+	3	2	ACTN2	234981455	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.085000	0.57657	2.372000	0.80975	0.563000	0.77884	CAG		0.547	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		26	66	1	0	8.58e-18	1.24e-17	26	66				
RYR2	6262	broad.mit.edu	37	1	237608741	237608741	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237608741G>A	ENST00000366574.2	+	14	1528	c.1211G>A	c.(1210-1212)aGt>aAt	p.S404N	RYR2_ENST00000360064.6_Missense_Mutation_p.S402N|RYR2_ENST00000542537.1_Missense_Mutation_p.S388N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	404	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGGCATAAGTTTGTCGAGA	0.413																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1210-1212)AGT>AAT		cardiac muscle ryanodine receptor							153.0	145.0	148.0					1																	237608741		1927	4145	6072	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237608741G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1211G>A	1.37:g.237608741G>A	ENSP00000355533:p.Ser404Asn						p.S404N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		14	1331	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	404			Cytoplasmic (By similarity).|MIR 5.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1211G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	5.100	0.204140	0.09704	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.90844	-2.74;-2.74;-2.74	5.84	4.66	0.58398	MIR motif (1);MIR (1);	0.170725	0.33110	N	0.005280	D	0.86368	0.5916	M	0.61703	1.905	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79130	-0.1930	10	0.29301	T	0.29	.	5.653	0.17627	0.6525:0.1909:0.1567:0.0	.	404	Q92736	RYR2_HUMAN	N	404;402;388	ENSP00000355533:S404N;ENSP00000353174:S402N;ENSP00000443798:S388N	ENSP00000353174:S402N	S	+	2	0	RYR2	235675364	0.997000	0.39634	0.988000	0.46212	0.003000	0.03518	3.620000	0.54203	1.020000	0.39573	-0.423000	0.05987	AGT		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		28	69	0	0	0	0	28	69				
RYR2	6262	broad.mit.edu	37	1	237780711	237780711	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237780711C>A	ENST00000366574.2	+	38	6158	c.5841C>A	c.(5839-5841)gtC>gtA	p.V1947V	RYR2_ENST00000360064.6_Silent_p.V1945V|RYR2_ENST00000542537.1_Silent_p.V1931V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1947	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAACGAAGTCATGCAAGCCT	0.443																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5839-5841)GTC>GTA		cardiac muscle ryanodine receptor							103.0	96.0	99.0					1																	237780711		2007	4202	6209	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780711C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5841C>A	1.37:g.237780711C>A							p.V1947V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	5961	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1947			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.5841C>A	CCDS55691.1																																																																																				0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	40	1	0	5.01e-05	5.8e-05	16	40				
RYR2	6262	broad.mit.edu	37	1	237791164	237791164	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237791164T>G	ENST00000366574.2	+	41	6541	c.6224T>G	c.(6223-6225)aTt>aGt	p.I2075S	RYR2_ENST00000360064.6_Missense_Mutation_p.I2073S|RYR2_ENST00000542537.1_Missense_Mutation_p.I2059S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2075	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTCTGTCATTGAAGACCCC	0.493																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6223-6225)ATT>AGT		cardiac muscle ryanodine receptor							49.0	48.0	48.0					1																	237791164		1963	4148	6111	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791164T>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6224T>G	1.37:g.237791164T>G	ENSP00000355533:p.Ile2075Ser						p.I2075S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6344	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2075			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6224T>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603560	0.87157	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98362	-4.89;-4.86;-4.88	5.17	5.17	0.71159	.	0.079396	0.46442	D	0.000289	D	0.98880	0.9621	M	0.88775	2.98	0.80722	D	1	D	0.67145	0.996	P	0.61722	0.893	D	0.99647	1.0990	10	0.87932	D	0	.	15.3078	0.74008	0.0:0.0:0.0:1.0	.	2075	Q92736	RYR2_HUMAN	S	2075;2073;2059	ENSP00000355533:I2075S;ENSP00000353174:I2073S;ENSP00000443798:I2059S	ENSP00000353174:I2073S	I	+	2	0	RYR2	235857787	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.972000	0.88022	2.079000	0.62486	0.482000	0.46254	ATT		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	25	0	0	0	0	5	25				
RYR2	6262	broad.mit.edu	37	1	237951287	237951287	+	Splice_Site	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:237951287G>A	ENST00000366574.2	+	92	13645		c.e92-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTTTCATAGGGGAGAAGAT	0.403																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.e92-1		cardiac muscle ryanodine receptor							45.0	45.0	45.0					1																	237951287		1932	4169	6101	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237951287G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13329-1G>A	1.37:g.237951287G>A							p.E4443_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		92	13449	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.13329_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347871	0.61183	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.775	0.85549	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	236017910	1.000000	0.71417	0.983000	0.44433	0.578000	0.36192	8.830000	0.92063	2.470000	0.83445	0.585000	0.79938	.		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	5	6	0	0	0	0	5	6				
ZP4	57829	broad.mit.edu	37	1	238046042	238046042	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:238046042G>T	ENST00000366570.4	-	11	1653	c.1495C>A	c.(1495-1497)Cgt>Agt	p.R499S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	499					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.R499C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGATACTTACGGAGCTTTTCT	0.403																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(2)|skin(1)	3						c.(1495-1497)CGT>AGT		zona pellucida glycoprotein 4 preproprotein							109.0	108.0	109.0					1																	238046042		2203	4300	6503	SO:0001630	splice_region_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238046042G>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1495+1C>A	1.37:g.238046042G>T						LOC100130331_uc010pyc.1_Intron	p.R499S	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		11	1495	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	499			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.1495C>A	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	9.426	1.084233	0.20309	.	.	ENSG00000116996	ENST00000366570	T	0.74002	-0.8	3.67	1.69	0.24217	.	1.195430	0.06357	N	0.710939	T	0.56001	0.1956	N	0.14661	0.345	0.09310	N	1	B	0.28760	0.221	B	0.23716	0.048	T	0.40869	-0.9540	9	.	.	.	-0.5794	8.4095	0.32636	0.0:0.0:0.5803:0.4197	.	499	Q12836	ZP4_HUMAN	S	499	ENSP00000355529:R499S	.	R	-	1	0	ZP4	236112665	0.000000	0.05858	0.000000	0.03702	0.743000	0.42351	-0.060000	0.11712	0.489000	0.27749	0.655000	0.94253	CGT		0.403	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		Missense_Mutation	10	40	1	0	1.77e-08	2.25e-08	10	40				
FMN2	56776	broad.mit.edu	37	1	240370893	240370893	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:240370893C>T	ENST00000319653.9	+	5	3011	c.2781C>T	c.(2779-2781)ccC>ccT	p.P927P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	927	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCTCTACCCGGAGCAGGCA	0.682																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2779-2781)CCC>CCT		formin 2							41.0	48.0	45.0					1																	240370893		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370893C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2781C>T	1.37:g.240370893C>T						FMN2_uc010pye.1_Silent_p.P931P	p.P927P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3006	+	Ovarian(103;0.127)	all_cancers(173;0.013)	927			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2781C>T	CCDS31069.2																																																																																				0.682	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		29	103	0	0	0	0	29	103				
FMN2	56776	broad.mit.edu	37	1	240371006	240371006	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:240371006C>A	ENST00000319653.9	+	5	3124	c.2894C>A	c.(2893-2895)cCc>cAc	p.P965H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	965	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCAGGCATACCCCTTCCTCCC	0.701																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2893-2895)CCC>CAC		formin 2							22.0	24.0	23.0					1																	240371006		2200	4298	6498	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371006C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2894C>A	1.37:g.240371006C>A	ENSP00000318884:p.Pro965His					FMN2_uc010pye.1_Missense_Mutation_p.P969H	p.P965H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3119	+	Ovarian(103;0.127)	all_cancers(173;0.013)	965			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2894C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	7.640	0.680761	0.14907	.	.	ENSG00000155816	ENST00000319653	T	0.66099	-0.19	3.51	3.51	0.40186	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.76535	0.4001	M	0.85859	2.78	0.25418	N	0.988293	D	0.67145	0.996	P	0.61477	0.889	T	0.66164	-0.5992	8	.	.	.	.	8.874	0.35334	0.0:0.8922:0.0:0.1078	.	965	Q9NZ56	FMN2_HUMAN	H	965	ENSP00000318884:P965H	.	P	+	2	0	FMN2	238437629	0.001000	0.12720	0.027000	0.17364	0.014000	0.08584	1.516000	0.35856	2.010000	0.58986	0.472000	0.43445	CCC		0.701	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		21	28	1	0	0.000229342	0.000261357	21	28				
FH	2271	broad.mit.edu	37	1	241669303	241669303	+	Splice_Site	SNP	C	C	A	rs200412958		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:241669303C>A	ENST00000366560.3	-	6	942	c.904G>T	c.(904-906)Ggc>Tgc	p.G302C		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	302					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GATCACTAACCTGTAAGTGCA	0.388			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.2		NA	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			0				lung(3)|ovary(1)|skin(1)	5						c.(904-906)GGC>TGC		fumarate hydratase precursor							117.0	110.0	112.0					1																	241669303		2203	4300	6503	SO:0001630	splice_region_variant	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241669303C>A	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.904+1G>T	1.37:g.241669303C>A							p.G302C	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	6	936	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	302					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.904G>T	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075170	0.55646	.	.	ENSG00000091483	ENST00000366560	D	0.99836	-7.05	5.76	5.76	0.90799	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.046152	0.85682	D	0.000000	D	0.99661	0.9874	M	0.93062	3.375	0.80722	D	1	B	0.25312	0.123	B	0.31869	0.137	D	0.99364	1.0918	9	.	.	.	-3.1525	17.4698	0.87642	0.0:1.0:0.0:0.0	.	302	P07954	FUMH_HUMAN	C	302	ENSP00000355518:G302C	.	G	-	1	0	FH	239735926	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	7.252000	0.78309	2.713000	0.92767	0.655000	0.94253	GGC		0.388	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143	Missense_Mutation	15	31	1	0	2.32e-05	2.7e-05	15	31				
KIF26B	55083	broad.mit.edu	37	1	245865828	245865828	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:245865828C>A	ENST00000407071.2	+	15	6687	c.6247C>A	c.(6247-6249)Cgc>Agc	p.R2083S	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1702S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2083					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGACGGAGCGCCTGGAGAG	0.577																																						uc001ibf.1		NA																	0				ovary(3)	3						c.(6247-6249)CGC>AGC		kinesin family member 26B							76.0	81.0	79.0					1																	245865828		2079	4204	6283	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245865828C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6247C>A	1.37:g.245865828C>A	ENSP00000385545:p.Arg2083Ser						p.R2083S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		15	6687	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		2083					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.6247C>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863118	0.51482	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77620	-1.11;-1.11	5.86	4.94	0.65067	.	.	.	.	.	D	0.83608	0.5291	L	0.54323	1.7	0.45541	D	0.998496	D	0.61697	0.99	P	0.59357	0.856	D	0.84901	0.0842	9	0.56958	D	0.05	.	16.243	0.82426	0.134:0.866:0.0:0.0	.	2083	Q2KJY2	KI26B_HUMAN	S	2083;1702;1699	ENSP00000385545:R2083S;ENSP00000355475:R1702S	ENSP00000355475:R1702S	R	+	1	0	KIF26B	243932451	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.627000	0.46469	1.447000	0.47661	0.650000	0.86243	CGC		0.577	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		22	65	1	0	1.97e-08	2.51e-08	22	65				
OR2L8	391190	broad.mit.edu	37	1	248112456	248112456	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:248112456G>T	ENST00000357191.3	+	1	297	c.297G>T	c.(295-297)caG>caT	p.Q99H	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGGGATTCAGAGTTTCTTCT	0.428																																						uc001idt.1		NA																	0				ovary(1)|skin(1)	2						c.(295-297)CAG>CAT		olfactory receptor, family 2, subfamily L,							311.0	259.0	277.0					1																	248112456		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112456G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.297G>T	1.37:g.248112456G>T	ENSP00000349719:p.Gln99His					OR2L13_uc001ids.2_Intron	p.Q99H	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	297	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		99			Extracellular (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.297G>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	12.39	1.924529	0.34002	.	.	ENSG00000196936	ENST00000357191	T	0.00472	7.19	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30374	U	0.009763	T	0.02156	0.0067	H	0.96662	3.86	0.29843	N	0.829058	D	0.76494	0.999	D	0.69824	0.966	T	0.02574	-1.1139	10	0.87932	D	0	.	11.1275	0.48328	0.0:0.0:1.0:0.0	.	99	Q8NGY9	OR2L8_HUMAN	H	99	ENSP00000349719:Q99H	ENSP00000349719:Q99H	Q	+	3	2	OR2L8	246179079	0.000000	0.05858	0.654000	0.29608	0.029000	0.11900	-0.476000	0.06591	0.905000	0.36596	0.479000	0.44913	CAG		0.428	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			77	212	1	0	2.66e-34	4.01e-34	77	212				
OLAH	55301	broad.mit.edu	37	10	15113820	15113820	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:15113820T>A	ENST00000378228.3	+	7	853	c.599T>A	c.(598-600)cTt>cAt	p.L200H	OLAH_ENST00000378217.3_Missense_Mutation_p.L253H|OLAH_ENST00000485251.1_Intron	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	200					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AAGGCTGTTCTTTCCTGTGAC	0.343																																						uc001inu.2		NA																	0					0						c.(598-600)CTT>CAT		oleoyl-ACP hydrolase isoform 2							236.0	222.0	227.0					10																	15113820		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15113820T>A	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.599T>A	10.37:g.15113820T>A	ENSP00000367473:p.Leu200His					ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.L253H	p.L200H	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN			7	853	+			200					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.599T>A	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	t	15.50	2.852844	0.51270	.	.	ENSG00000152463	ENST00000378228;ENST00000378217	.	.	.	4.79	2.36	0.29203	Thioesterase (1);	0.190473	0.46442	D	0.000288	T	0.70762	0.3261	M	0.93898	3.47	0.09310	N	0.999994	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.958	T	0.61941	-0.6959	9	0.87932	D	0	-14.7174	6.3048	0.21133	0.1409:0.0781:0.0:0.781	.	200;253	Q9NV23;Q9NV23-2	SAST_HUMAN;.	H	200;253	.	ENSP00000367462:L253H	L	+	2	0	OLAH	15153826	0.514000	0.26202	0.001000	0.08648	0.167000	0.22549	2.309000	0.43699	0.379000	0.24794	0.363000	0.22086	CTT		0.343	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		21	67	0	0	0	0	21	67				
CUBN	8029	broad.mit.edu	37	10	17127685	17127685	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:17127685T>A	ENST00000377833.4	-	16	2086	c.2021A>T	c.(2020-2022)cAg>cTg	p.Q674L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	674	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			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)	GCCAGTAGTCTGGAGCGGTGG	0.458																																						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.(2020-2022)CAG>CTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						92.0	95.0	94.0					10																	17127685		2203	4300	6503	SO:0001583	missense	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.chr10:17127685T>A	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.2021A>T	10.37:g.17127685T>A	ENSP00000367064:p.Gln674Leu						p.Q674L	NM_001081	NP_001072	O60494	CUBN_HUMAN			16	2073	-			674			CUB 2.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2021A>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	6.199	0.404830	0.11754	.	.	ENSG00000107611	ENST00000377833	T	0.25579	1.79	5.83	3.49	0.39957	CUB (5);	0.376195	0.19482	N	0.113200	T	0.11367	0.0277	N	0.04373	-0.215	0.80722	D	1	B	0.26902	0.163	B	0.30105	0.111	T	0.12192	-1.0557	10	0.11182	T	0.66	.	9.8891	0.41279	0.0:0.1395:0.0:0.8605	.	674	O60494	CUBN_HUMAN	L	674	ENSP00000367064:Q674L	ENSP00000367064:Q674L	Q	-	2	0	CUBN	17167691	1.000000	0.71417	0.449000	0.26957	0.535000	0.34838	3.923000	0.56469	0.470000	0.27294	0.533000	0.62120	CAG		0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		26	84	0	0	0	0	26	84				
PTCHD3	374308	broad.mit.edu	37	10	27687958	27687958	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:27687958C>A	ENST00000438700.3	-	4	1686	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	523	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGCAAAATAACAGGGTCATTC	0.388																																						uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1567-1569)CTG>CTT		patched domain containing 3							86.0	83.0	84.0					10																	27687958		2203	4299	6502	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27687958C>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1569G>T	10.37:g.27687958C>A							p.L523L	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			4	1687	-			523			SSD.|Helical; (Potential).		I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.1569G>T	CCDS31173.1																																																																																				0.388	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		18	69	1	0	0.000958276	0.0010696	18	69				
PTCHD3	374308	broad.mit.edu	37	10	27702471	27702471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:27702471G>A	ENST00000438700.3	-	1	826	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	237					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGCAGATCCTGCACCGCGCCG	0.617																																						uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(709-711)CAG>TAG		patched domain containing 3							37.0	39.0	39.0					10																	27702471		2203	4300	6503	SO:0001587	stop_gained	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702471G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.709C>T	10.37:g.27702471G>A	ENSP00000417658:p.Gln237*						p.Q237*	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	827	-			237					I3L499|Q6ZU28	Nonsense_Mutation	SNP	ENST00000438700.3	37	c.709C>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383688	0.82792	.	.	ENSG00000182077	ENST00000438700	.	.	.	3.78	1.65	0.23941	.	0.831304	0.10570	N	0.659188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3649	7.287	0.26344	0.1013:0.0:0.7194:0.1793	.	.	.	.	X	237	.	ENSP00000417658:Q237X	Q	-	1	0	PTCHD3	27742477	0.051000	0.20477	0.002000	0.10522	0.016000	0.09150	0.892000	0.28322	0.805000	0.34159	0.561000	0.74099	CAG		0.617	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		6	53	0	0	0	0	6	53				
RBP3	5949	broad.mit.edu	37	10	48389293	48389293	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:48389293G>C	ENST00000224600.4	-	1	1698	c.1585C>G	c.(1585-1587)Cca>Gca	p.P529A	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	529	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTGTAGCGTGGGCCCGGGAGC	0.667																																						uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1585-1587)CCA>GCA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						36.0	39.0	38.0					10																	48389293		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389293G>C	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1585C>G	10.37:g.48389293G>C	ENSP00000224600:p.Pro529Ala						p.P529A	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1699	-			529			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1585C>G	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647692	0.29336	.	.	ENSG00000107618	ENST00000224600	T	0.62941	-0.01	5.43	3.38	0.38709	Interphotoreceptor retinol-binding (2);	0.766559	0.12375	N	0.474425	T	0.58935	0.2157	L	0.50333	1.59	0.27187	N	0.960512	B	0.24317	0.101	B	0.28385	0.089	T	0.56323	-0.7998	10	0.52906	T	0.07	-8.4884	13.1319	0.59387	0.0:0.0:0.6032:0.3967	.	529	P10745	RET3_HUMAN	A	529	ENSP00000224600:P529A	ENSP00000224600:P529A	P	-	1	0	RBP3	48009299	0.996000	0.38824	0.851000	0.33527	0.851000	0.48451	2.385000	0.44371	1.283000	0.44513	0.561000	0.74099	CCA		0.667	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		13	67	0	0	0	0	13	67				
VSTM4	196740	broad.mit.edu	37	10	50315862	50315863	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50315862_50315863CA>AT	ENST00000332853.4	-	2	256_257	c.233_234TG>AT	c.(232-234)aTG>aAT	p.M78N	VSTM4_ENST00000298454.3_Missense_Mutation_p.M78N	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	78	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGAGCTTGGTCATCTTCACCAT	0.629																																						uc001jhf.2		NA																	0					0						c.(232-234)ATG>AAT		hypothetical protein LOC196740 isoform 1																																				SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50315862_50315863CA>AT	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.233_234delinsAT	10.37:g.50315862_50315863delinsAT	ENSP00000331062:p.Met78Asn					C10orf72_uc001jhh.2_Missense_Mutation_p.M78N	p.M78N	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			2	262_263	-			78			Ig-like.|Extracellular (Potential).		B4DNI6|Q96MX7	Missense_Mutation	DNP	ENST00000332853.4	37	c.233_234TG>AT	CCDS31198.1																																																																																				0.629	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		7	48	0	0	0	0	7	48				
CHAT	1103	broad.mit.edu	37	10	50870701	50870701	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50870701G>A	ENST00000337653.2	+	14	2003	c.1850G>A	c.(1849-1851)gGg>gAg	p.G617E	CHAT_ENST00000339797.1_Missense_Mutation_p.G499E|CHAT_ENST00000455728.2_Missense_Mutation_p.G499E|CHAT_ENST00000395562.2_Missense_Mutation_p.G535E|CHAT_ENST00000351556.3_Missense_Mutation_p.G499E|CHAT_ENST00000395559.2_Missense_Mutation_p.G499E	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	617					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCCATAACAGGGATGGCCATT	0.572																																						uc001jhz.2		NA																	0				central_nervous_system(3)	3						c.(1849-1851)GGG>GAG		choline acetyltransferase isoform 2	Choline(DB00122)						104.0	101.0	102.0					10																	50870701		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50870701G>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1850G>A	10.37:g.50870701G>A	ENSP00000337103:p.Gly617Glu					CHAT_uc001jhv.1_Missense_Mutation_p.G499E|CHAT_uc001jhx.1_Missense_Mutation_p.G499E|CHAT_uc001jhy.1_Missense_Mutation_p.G499E|CHAT_uc001jia.2_Missense_Mutation_p.G499E|CHAT_uc010qgs.1_Missense_Mutation_p.G499E	p.G617E	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	14	2003	+		all_neural(218;0.107)	617					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1850G>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026051	0.93518	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47;-6.47;-6.47	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96691	0.9511	10	0.87932	D	0	-30.9655	19.5169	0.95169	0.0:0.0:1.0:0.0	.	499;617	F8W8I2;P28329	.;CLAT_HUMAN	E	499;499;499;617;535;499	ENSP00000343486:G499E;ENSP00000345878:G499E;ENSP00000378926:G499E;ENSP00000337103:G617E;ENSP00000378929:G535E;ENSP00000390521:G499E	ENSP00000337103:G617E	G	+	2	0	CHAT	50540707	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GGG		0.572	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		36	84	0	0	0	0	36	84				
C10orf53	282966	broad.mit.edu	37	10	50916545	50916545	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50916545T>A	ENST00000374112.3	+	3	368	c.356T>A	c.(355-357)gTa>gAa	p.V119E	C10orf53_ENST00000535836.1_Missense_Mutation_p.V119E	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				acttgtactgtattggcccag	0.488																																						uc001jid.1		NA																	0					0						c.(355-357)GTA>GAA		chromosome 10 open reading frame 53 isoform a							166.0	161.0	163.0					10																	50916545		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50916545T>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.356T>A	10.37:g.50916545T>A	ENSP00000363226:p.Val119Glu						p.V119E	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN			3	416	+		all_neural(218;0.107)	Error:Variant_position_missing_in_Q8N6V4_after_alignment					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374112.3	37	c.356T>A	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	T	8.190	0.795872	0.16327	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	1.71	-2.44	0.06502	.	.	.	.	.	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	P	0.41041	0.736	B	0.26094	0.066	T	0.18935	-1.0321	8	0.87932	D	0	.	2.8312	0.05501	0.0:0.3832:0.2491:0.3677	.	119	B9ZVK6	.	E	119	.	ENSP00000363226:V119E	V	+	2	0	C10orf53	50586551	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.808000	0.04515	-0.670000	0.05282	-0.415000	0.06103	GTA		0.488	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1	NM_182554		61	165	0	0	0	0	61	165				
OGDHL	55753	broad.mit.edu	37	10	50964873	50964873	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:50964873G>T	ENST00000374103.4	-	3	409	c.324C>A	c.(322-324)agC>agA	p.S108R	OGDHL_ENST00000419399.1_Intron|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	108					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACCAATTTGCTGGTCTTGG	0.632																																						uc001jie.2		NA																	0				pancreas(1)	1						c.(322-324)AGC>AGA		oxoglutarate dehydrogenase-like isoform a							86.0	82.0	83.0					10																	50964873		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50964873G>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.324C>A	10.37:g.50964873G>T	ENSP00000363216:p.Ser108Arg					OGDHL_uc009xog.2_Missense_Mutation_p.S135R|OGDHL_uc010qgt.1_Intron|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_5'UTR	p.S108R	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			3	466	-			108					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.324C>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245122	0.22796	.	.	ENSG00000197444	ENST00000374103	T	0.43294	0.95	5.38	2.3	0.28687	.	0.515364	0.21476	N	0.073916	T	0.28200	0.0696	L	0.49126	1.545	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10337	-1.0634	10	0.19147	T	0.46	.	2.1826	0.03879	0.1695:0.2135:0.4526:0.1644	.	108	Q9ULD0	OGDHL_HUMAN	R	108	ENSP00000363216:S108R	ENSP00000363216:S108R	S	-	3	2	OGDHL	50634879	0.988000	0.35896	1.000000	0.80357	0.692000	0.40212	0.066000	0.14489	1.218000	0.43458	0.591000	0.81541	AGC		0.632	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		28	46	1	0	3.65e-15	5.12e-15	28	46				
AGAP6	414189	broad.mit.edu	37	10	51768720	51768720	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:51768720G>A	ENST00000374056.4	+	7	1164	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	AGAP6_ENST00000412531.3_Missense_Mutation_p.G279S			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	256					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G279C(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CATCGGGAGCGGTAGAGCCAT	0.512																																						uc001jix.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(835-837)GGT>AGT		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768720G>A		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.766G>A	10.37:g.51768720G>A	ENSP00000363168:p.Gly256Ser						p.G279S	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			8	1233	+			279						Missense_Mutation	SNP	ENST00000374056.4	37	c.835G>A		.	.	.	.	.	.	.	.	.	.	.	11.70	1.716723	0.30413	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.119965	0.56097	N	0.000034	T	0.37839	0.1018	N	0.25426	0.745	0.47659	D	0.999487	B	0.22346	0.068	B	0.20767	0.031	T	0.12167	-1.0558	9	0.66056	D	0.02	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	279	C9IYN2	.	S	279;256	.	ENSP00000363168:G279S	G	+	1	0	AGAP6	51438726	1.000000	0.71417	0.160000	0.22671	0.162000	0.22319	3.611000	0.54132	0.132000	0.18615	0.134000	0.15878	GGT		0.512	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		71	339	0	0	0	0	71	339				
SUPV3L1	6832	broad.mit.edu	37	10	70962202	70962202	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:70962202G>A	ENST00000359655.4	+	12	1586	c.1526G>A	c.(1525-1527)gGt>gAt	p.G509D		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	509	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGGCAGCTGGTCTTCATCCA	0.363																																						uc001jpe.1		NA																	0				urinary_tract(1)|ovary(1)	2						c.(1525-1527)GGT>GAT		suppressor of var1, 3-like 1 precursor							129.0	116.0	120.0					10																	70962202		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70962202G>A	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1526G>A	10.37:g.70962202G>A	ENSP00000352678:p.Gly509Asp					SUPV3L1_uc010qjd.1_Missense_Mutation_p.G378D	p.G509D	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			12	1581	+			509			Helicase C-terminal.		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.1526G>A	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709761	0.89018	.	.	ENSG00000156502	ENST00000359655	T	0.42900	0.96	5.2	5.2	0.72013	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82499	-0.0427	10	0.87932	D	0	-21.2216	18.7333	0.91744	0.0:0.0:1.0:0.0	.	509	Q8IYB8	SUV3_HUMAN	D	509	ENSP00000352678:G509D	ENSP00000352678:G509D	G	+	2	0	SUPV3L1	70632208	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.443000	0.97568	2.409000	0.81822	0.462000	0.41574	GGT		0.363	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		31	59	0	0	0	0	31	59				
SFTPA1	653509	broad.mit.edu	37	10	81372067	81372067	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:81372067G>T	ENST00000398636.3	+	4	310		c.e4-1		SFTPA1_ENST00000428376.2_Splice_Site|SFTPA1_ENST00000419470.2_Splice_Site|SFTPA1_ENST00000372308.3_Splice_Site|SFTPA1_ENST00000372313.5_Splice_Site	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1						lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTTCTCTGCAGGCCCCATGGG	0.567																																						uc001kap.2		NA																	0					0						c.e4-1		surfactant protein A1 isoform 1							175.0	184.0	181.0					10																	81372067		2203	4296	6499	SO:0001630	splice_region_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81372067G>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.173-1G>T	10.37:g.81372067G>T						SFTPA1_uc001kaq.2_Splice_Site_p.G58_splice|SFTPA1_uc009xry.2_Splice_Site_p.G73_splice|SFTPA1_uc001kar.2_Splice_Site_p.G58_splice|SFTPA1_uc010qlt.1_Splice_Site|SFTPA1_uc009xrz.2_Intron|SFTPA1_uc009xsa.2_Splice_Site_p.G58_splice|SFTPA1_uc009xsf.2_5'Flank	p.G58_splice	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		4	294	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)							A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Splice_Site	SNP	ENST00000398636.3	37	c.173_splice	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	.	5.835	0.338318	0.11069	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000419470;ENST00000394569;ENST00000429958;ENST00000439264	.	.	.	2.73	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1161	0.36758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SFTPA1	81042073	1.000000	0.71417	0.983000	0.44433	0.174000	0.22865	3.536000	0.53582	1.840000	0.53500	0.448000	0.29417	.		0.567	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411	Intron	100	264	1	0	7.59e-44	1.15e-43	100	264				
MINPP1	9562	broad.mit.edu	37	10	89264702	89264702	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:89264702G>T	ENST00000371996.4	+	1	71	c.30G>T	c.(28-30)cgG>cgT	p.R10R	MINPP1_ENST00000371994.4_Silent_p.R10R|MINPP1_ENST00000536010.1_5'Flank	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	10					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GCCTCCTCCGGACCTCCGTAG	0.731																																						uc001keu.2		NA																	0				urinary_tract(1)	1						c.(28-30)CGG>CGT		multiple inositol polyphosphate histidine							9.0	10.0	10.0					10																	89264702		2085	4105	6190	SO:0001819	synonymous_variant	9562				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89264702G>T	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.30G>T	10.37:g.89264702G>T						MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_Silent_p.R10R	p.R10R	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	1	480	+		Colorectal(252;0.122)	10					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Silent	SNP	ENST00000371996.4	37	c.30G>T	CCDS7384.1																																																																																				0.731	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			6	23	1	0	0.00116845	0.00129608	6	23				
FAS	355	broad.mit.edu	37	10	90768682	90768682	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:90768682A>G	ENST00000355279.2	+	4	371	c.371A>G	c.(370-372)aAt>aGt	p.N124S	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Missense_Mutation_p.N124S|FAS_ENST00000357339.2_Missense_Mutation_p.N124S|FAS_ENST00000355740.2_Missense_Mutation_p.N124S			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	CGGACCCAGAATACCAAGTGC	0.363																																						uc001kfr.2		NA																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(370-372)AAT>AGT		tumor necrosis factor receptor superfamily,							283.0	310.0	301.0					10																	90768682		2203	4300	6503	SO:0001583	missense	355	Autoimmune_Lymphoproliferative_syndrome_type_I			activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768682A>G	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.371A>G	10.37:g.90768682A>G	ENSP00000347426:p.Asn124Ser					FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Missense_Mutation_p.N124S|FAS_uc001kft.2_Missense_Mutation_p.N124S|FAS_uc010qnb.1_Intron|FAS_uc010qnc.1_Intron|FAS_uc001kfw.2_Intron|FAS_uc010qnd.1_Intron|FAS_uc010qne.1_Intron|FAS_uc009xtp.2_RNA	p.N124S	NM_000043	NP_000034	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	717	+		Colorectal(252;0.0161)	124			Extracellular (Potential).|TNFR-Cys 2.		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355279.2	37	c.371A>G	CCDS7395.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485696	0.63962	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000357339;ENST00000355279;ENST00000371875	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	4.2	4.2	0.49525	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.102878	0.64402	D	0.000007	D	0.96156	0.8747	M	0.84326	2.69	0.45914	D	0.998757	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.83275	0.972;0.996;0.994	D	0.96018	0.9007	10	0.72032	D	0.01	-53.1422	9.9623	0.41704	1.0:0.0:0.0:0.0	.	124;124;124	P25445-6;Q5T9P3;P25445	.;.;TNR6_HUMAN	S	151;124;124;124;124;124	ENSP00000347979:N124S;ENSP00000345601:N124S;ENSP00000349896:N124S;ENSP00000347426:N124S	ENSP00000345601:N124S	N	+	2	0	FAS	90758662	0.911000	0.30947	1.000000	0.80357	0.954000	0.61252	4.440000	0.59975	2.138000	0.66242	0.528000	0.53228	AAT		0.363	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			136	359	0	0	0	0	136	359				
LOXL4	84171	broad.mit.edu	37	10	100012126	100012126	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:100012126G>A	ENST00000260702.3	-	12	2085	c.1935C>T	c.(1933-1935)gaC>gaT	p.D645D	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	645	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCAGTTTGTGTCCTCCAGAC	0.537																																						uc001kpa.1		NA																	0				ovary(3)|breast(1)|skin(1)	5						c.(1933-1935)GAC>GAT		lysyl oxidase-like 4 precursor							170.0	161.0	164.0					10																	100012126		2203	4300	6503	SO:0001819	synonymous_variant	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100012126G>A	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1935C>T	10.37:g.100012126G>A							p.D645D	NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	12	2086	-		Colorectal(252;0.234)	645			Lysyl-oxidase like.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	c.1935C>T	CCDS7473.1																																																																																				0.537	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		47	111	0	0	0	0	47	111				
FAM178A	55719	broad.mit.edu	37	10	102684054	102684054	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:102684054G>A	ENST00000238961.4	+	5	1838	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	FAM178A_ENST00000370271.3_Silent_p.K432K|FAM178A_ENST00000370269.3_Silent_p.K432K	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	432						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CAGGTACCAAGGAGACTAAGA	0.443																																						uc001krt.3		NA																	0					0						c.(1294-1296)AAG>AAA		hypothetical protein LOC55719 isoform 1							120.0	127.0	125.0					10																	102684054		2203	4300	6503	SO:0001819	synonymous_variant	55719							g.chr10:102684054G>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1296G>A	10.37:g.102684054G>A						FAM178A_uc001krr.1_Silent_p.K432K|FAM178A_uc001krs.2_Silent_p.K432K|FAM178A_uc001kru.1_Silent_p.K367K	p.K432K	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			5	1838	+			432					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.1296G>A	CCDS7500.1																																																																																				0.443	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			50	139	0	0	0	0	50	139				
CFAP43	80217	broad.mit.edu	37	10	105948147	105948147	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:105948147T>C	ENST00000278064.2	-	13	1686	c.1361A>G	c.(1360-1362)cAg>cGg	p.Q454R	WDR96_ENST00000357060.3_Missense_Mutation_p.Q523R|WDR96_ENST00000428666.1_Missense_Mutation_p.Q524R																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGTGGATATCTGTAAAATGTC	0.408																																						uc001kxw.2		NA																	0					0						c.(1567-1569)CAG>CGG		hypothetical protein LOC80217							107.0	99.0	102.0					10																	105948147		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105948147T>C																												ENST00000278064.2:c.1361A>G	10.37:g.105948147T>C	ENSP00000278064:p.Gln454Arg					C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.Q524R	p.Q523R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	13	1684	-		Colorectal(252;0.178)	523						Missense_Mutation	SNP	ENST00000278064.2	37	c.1568A>G		.	.	.	.	.	.	.	.	.	.	T	18.15	3.560149	0.65538	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064	T;T;T	0.15603	2.45;2.45;2.41	5.94	5.94	0.96194	WD40 repeat-like-containing domain (1);	0.000000	0.43919	D	0.000501	T	0.35422	0.0931	M	0.73598	2.24	0.30620	N	0.758612	D;P	0.67145	0.996;0.955	P;P	0.62184	0.899;0.736	T	0.34054	-0.9844	10	0.14656	T	0.56	.	12.7865	0.57510	0.0:0.0:0.0:1.0	.	524;523	B4DHB6;Q8NDM7	.;WDR96_HUMAN	R	523;524;454	ENSP00000349568:Q523R;ENSP00000400289:Q524R;ENSP00000278064:Q454R	ENSP00000278064:Q454R	Q	-	2	0	WDR96	105938137	1.000000	0.71417	0.994000	0.49952	0.547000	0.35210	2.488000	0.45276	2.272000	0.75746	0.459000	0.35465	CAG		0.408	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			19	44	0	0	0	0	19	44				
NRAP	4892	broad.mit.edu	37	10	115381802	115381802	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:115381802C>A	ENST00000359988.3	-	24	2839	c.2595G>T	c.(2593-2595)gaG>gaT	p.E865D	NRAP_ENST00000369358.4_Missense_Mutation_p.E873D|NRAP_ENST00000369360.3_Missense_Mutation_p.E838D|NRAP_ENST00000360478.3_Missense_Mutation_p.E830D	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATTTGGTGTCCTCGAATCCCT	0.532																																						uc001laj.2		NA																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(2593-2595)GAG>GAT		nebulin-related anchoring protein isoform S							242.0	182.0	202.0					10																	115381802		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115381802C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2595G>T	10.37:g.115381802C>A	ENSP00000353078:p.Glu865Asp					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.E830D|NRAP_uc001lal.3_Missense_Mutation_p.E865D	p.E865D	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	24	2759	-		Colorectal(252;0.0233)|Breast(234;0.188)	865			Nebulin 21.			Missense_Mutation	SNP	ENST00000359988.3	37	c.2595G>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055506	0.75960	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.99	0.958	0.19619	.	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	M	0.81112	2.525	0.38336	D	0.943943	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.998;0.986;0.997	T	0.73930	-0.3827	10	0.62326	D	0.03	.	9.6398	0.39833	0.0:0.6024:0.0:0.3976	.	865;830;865	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	D	873;838;865;830	ENSP00000358365:E873D;ENSP00000358367:E838D;ENSP00000353078:E865D;ENSP00000353666:E830D	ENSP00000353078:E865D	E	-	3	2	NRAP	115371792	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	0.979000	0.29500	0.136000	0.18733	0.655000	0.94253	GAG		0.532	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		35	66	1	0	4.63e-21	6.77e-21	35	66				
ATRNL1	26033	broad.mit.edu	37	10	116975564	116975564	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:116975564G>A	ENST00000355044.3	+	9	1584	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	486					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTCATGGAGGGTATAAAGCAT	0.353																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1456-1458)GGG>GGA		attractin-like 1 precursor							122.0	110.0	114.0					10																	116975564		2202	4300	6502	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:116975564G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1458G>A	10.37:g.116975564G>A							p.G486G	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	9	1844	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	486			Kelch 4.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.1458G>A	CCDS7592.1																																																																																				0.353	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		10	24	0	0	0	0	10	24				
FAM24A	118670	broad.mit.edu	37	10	124672281	124672281	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:124672281T>A	ENST00000368894.1	+	3	250	c.129T>A	c.(127-129)gcT>gcA	p.A43A		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	43						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TCTTAAGAGCTGCAAAGGACC	0.473																																						uc001lgv.2		NA																	0				ovary(2)	2						c.(127-129)GCT>GCA		family with sequence similarity 24, member A							106.0	103.0	104.0					10																	124672281		2203	4300	6503	SO:0001819	synonymous_variant	118670					extracellular region		g.chr10:124672281T>A		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.129T>A	10.37:g.124672281T>A							p.A43A	NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	3	250	+		all_neural(114;0.169)|Glioma(114;0.222)	43						Silent	SNP	ENST00000368894.1	37	c.129T>A	CCDS31304.1																																																																																				0.473	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		29	66	0	0	0	0	29	66				
EDRF1	26098	broad.mit.edu	37	10	127411642	127411642	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:127411642G>A	ENST00000356792.4	+	3	555	c.323G>A	c.(322-324)gGc>gAc	p.G108D	C10orf137_ENST00000337623.3_Missense_Mutation_p.G108D	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTAGCTTTGGCATGGCATAT	0.378																																						uc001liq.1		NA																	0				ovary(5)|large_intestine(3)|lung(2)	10						c.(322-324)GGC>GAC		erythroid differentiation-related factor 1							367.0	333.0	345.0					10																	127411642		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127411642G>A																												ENST00000356792.4:c.323G>A	10.37:g.127411642G>A	ENSP00000349244:p.Gly108Asp					C10orf137_uc001lin.2_Missense_Mutation_p.G108D|C10orf137_uc001lio.1_Missense_Mutation_p.G108D|C10orf137_uc001lip.1_5'UTR	p.G108D	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			3	616	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	108					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.323G>A	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470205	0.84533	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.994;0.999;0.986	T	0.70215	-0.4933	9	0.38643	T	0.18	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	108;108;108	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	D	108	.	ENSP00000336727:G108D	G	+	2	0	C10orf137	127401632	1.000000	0.71417	0.850000	0.33497	0.797000	0.45037	9.094000	0.94168	2.692000	0.91855	0.655000	0.94253	GGC		0.378	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			36	130	0	0	0	0	36	130				
TCERG1L	256536	broad.mit.edu	37	10	132965138	132965138	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:132965138T>C	ENST00000368642.4	-	5	952	c.867A>G	c.(865-867)acA>acG	p.T289T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	289										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGCCCCGCTCTGTCCTTGTAT	0.527																																						uc001lkp.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(865-867)ACA>ACG		transcription elongation regulator 1-like							48.0	45.0	46.0					10																	132965138		2203	4300	6503	SO:0001819	synonymous_variant	256536							g.chr10:132965138T>C	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.867A>G	10.37:g.132965138T>C						TCERG1L_uc009yax.1_RNA	p.T289T	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	5	953	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	289					Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	c.867A>G	CCDS7662.2																																																																																				0.527	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		7	32	0	0	0	0	7	32				
KNDC1	85442	broad.mit.edu	37	10	135012588	135012588	+	Missense_Mutation	SNP	G	G	T	rs113826287		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:135012588G>T	ENST00000304613.3	+	14	2597	c.2576G>T	c.(2575-2577)aGt>aTt	p.S859I	KNDC1_ENST00000368571.2_Missense_Mutation_p.S794I|KNDC1_ENST00000368572.2_Missense_Mutation_p.S859I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	859	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GATGACCAGAGTCCAGACAGT	0.741																																						uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2575-2577)AGT>ATT		kinase non-catalytic C-lobe domain (KIND)							10.0	13.0	12.0					10																	135012588		2153	4258	6411	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135012588G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2576G>T	10.37:g.135012588G>T	ENSP00000304437:p.Ser859Ile					KNDC1_uc001lma.1_Missense_Mutation_p.S794I|KNDC1_uc001lmb.1_Missense_Mutation_p.S271I	p.S859I	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	14	2577	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	859			Pro-rich.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.2576G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376110	0.24857	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.18174	2.72;2.72;2.23	2.96	-0.421	0.12332	.	0.484719	0.16881	U	0.195714	T	0.11879	0.0289	N	0.22421	0.69	0.09310	N	1	P;B;B	0.52316	0.952;0.03;0.244	P;B;B	0.46796	0.527;0.03;0.073	T	0.15694	-1.0428	10	0.72032	D	0.01	.	5.2558	0.15546	0.1594:0.5189:0.3217:0.0	.	859;794;859	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	I	859;859;794	ENSP00000304437:S859I;ENSP00000357561:S859I;ENSP00000357560:S794I	ENSP00000304437:S859I	S	+	2	0	KNDC1	134862578	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.174000	0.09839	0.092000	0.17331	0.306000	0.20318	AGT		0.741	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		11	18	1	0	4.69e-08	5.91e-08	11	18				
KNDC1	85442	broad.mit.edu	37	10	135024220	135024220	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr10:135024220G>T	ENST00000304613.3	+	21	3921	c.3900G>T	c.(3898-3900)acG>acT	p.T1300T	KNDC1_ENST00000368572.2_Silent_p.T1302T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1300	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCAACAGCACGCTGACCAGGT	0.612																																						uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3898-3900)ACG>ACT		kinase non-catalytic C-lobe domain (KIND)							237.0	185.0	203.0					10																	135024220		2203	4300	6503	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135024220G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3900G>T	10.37:g.135024220G>T							p.T1300T	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	21	3901	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1300			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.3900G>T	CCDS7674.1																																																																																				0.612	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		36	112	1	0	9.89e-21	1.44e-20	36	112				
OR51A2	401667	broad.mit.edu	37	11	4976784	4976784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:4976784C>A	ENST00000380371.1	-	1	159	c.160G>T	c.(160-162)Gag>Tag	p.E54*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGAGGGCTCTGTCTTGATG	0.428																																						uc010qyt.1		NA																	0					0						c.(160-162)GAG>TAG		olfactory receptor, family 51, subfamily A,							81.0	53.0	62.0					11																	4976784		2152	4255	6407	SO:0001587	stop_gained	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976784C>A	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.160G>T	11.37:g.4976784C>A	ENSP00000369729:p.Glu54*						p.E54*	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	160	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	54			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000380371.1	37	c.160G>T	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	9.156	1.017557	0.19355	.	.	ENSG00000205496	ENST00000380371	.	.	.	2.94	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0922	0.30807	0.0:0.8724:0.0:0.1276	.	.	.	.	X	54	.	ENSP00000369729:E54X	E	-	1	0	OR51A2	4933360	0.000000	0.05858	0.171000	0.22900	0.012000	0.07955	0.386000	0.20702	1.639000	0.50556	0.386000	0.25728	GAG		0.428	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		20	22	1	0	2.89e-11	3.88e-11	20	22				
OR52A1	23538	broad.mit.edu	37	11	5173083	5173083	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5173083G>A	ENST00000380367.1	-	2	934	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	OR52A1_ENST00000328942.1_Missense_Mutation_p.H173Y			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	173					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTTGTGTGATAAAATTGA	0.443																																						uc010qyy.1		NA																	0				ovary(1)|breast(1)	2						c.(517-519)CAC>TAC		olfactory receptor, family 52, subfamily A,							142.0	141.0	142.0					11																	5173083		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173083G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.517C>T	11.37:g.5173083G>A	ENSP00000369725:p.His173Tyr						p.H173Y	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	517	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	173			Extracellular (Potential).		Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.517C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	6.387	0.439592	0.12104	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.33865	1.39;1.39	5.37	-0.692	0.11301	GPCR, rhodopsin-like superfamily (1);	0.272836	0.26871	N	0.022070	T	0.34337	0.0894	M	0.80847	2.515	0.09310	N	1	B	0.30973	0.302	B	0.36186	0.219	T	0.36311	-0.9753	10	0.56958	D	0.05	.	1.1911	0.01865	0.1856:0.1283:0.2941:0.3921	.	173	Q9UKL2	O52A1_HUMAN	Y	173	ENSP00000369725:H173Y;ENSP00000333684:H173Y	ENSP00000333684:H173Y	H	-	1	0	OR52A1	5129659	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.784000	0.01769	0.009000	0.14813	-0.169000	0.13324	CAC		0.443	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		31	55	0	0	0	0	31	55				
OR51B5	282763	broad.mit.edu	37	11	5364443	5364443	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5364443T>A	ENST00000300773.2	-	1	366	c.312A>T	c.(310-312)tcA>tcT	p.S104S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	104					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAGGAAAGTGAGTGTATAA	0.507																																						uc001map.1		NA																	0				skin(1)	1						c.(310-312)TCA>TCT		olfactory receptor, family 51, subfamily B,							45.0	44.0	45.0					11																	5364443		2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364443T>A	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.312A>T	11.37:g.5364443T>A						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Silent_p.S104S	p.S104S	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	312	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	104			Helical; Name=3; (Potential).		B2RN59	Silent	SNP	ENST00000300773.2	37	c.312A>T	CCDS31378.1																																																																																				0.507	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		14	49	0	0	0	0	14	49				
OR51I2	390064	broad.mit.edu	37	11	5474910	5474910	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5474910C>A	ENST00000341449.2	+	1	273	c.192C>A	c.(190-192)tcC>tcA	p.S64S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	64					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTCCTGTCCATGTTGTCCT	0.547																																						uc010qzf.1		NA																	0				ovary(2)|skin(2)	4						c.(190-192)TCC>TCA		olfactory receptor, family 51, subfamily I,							111.0	101.0	104.0					11																	5474910		2201	4297	6498	SO:0001819	synonymous_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474910C>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.192C>A	11.37:g.5474910C>A						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.S64S	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	192	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	64			Helical; Name=2; (Potential).		Q6IF81	Silent	SNP	ENST00000341449.2	37	c.192C>A	CCDS31383.1																																																																																				0.547	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		33	85	1	0	9.65e-13	1.32e-12	33	85				
OR52H1	390067	broad.mit.edu	37	11	5566075	5566075	+	Missense_Mutation	SNP	C	C	T	rs371667578		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5566075C>T	ENST00000322653.4	-	1	704	c.679G>A	c.(679-681)Gca>Aca	p.A227T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A227T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGTGTGCGTAGGAAACA	0.498																																						uc010qzh.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|breast(1)	2						c.(679-681)GCA>ACA		olfactory receptor, family 52, subfamily H,		C	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	121.0	101.0	108.0		679	-3.1	0.0	11		108	0,8594		0,0,4297	no	missense	OR52H1	NM_001005289.1	58	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	227/321	5566075	1,12995	2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566075C>T	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.679G>A	11.37:g.5566075C>T	ENSP00000326259:p.Ala227Thr					HBG2_uc001mak.1_Intron	p.A227T	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	679	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	227			Cytoplasmic (Potential).		B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.679G>A	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072259	0.01918	2.27E-4	0.0	ENSG00000181616	ENST00000322653	T	0.00137	8.68	5.37	-3.14	0.05250	GPCR, rhodopsin-like superfamily (1);	0.974151	0.08441	N	0.945420	T	0.00039	0.0001	N	0.01742	-0.745	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.02437	-1.1159	10	0.12103	T	0.63	.	2.0156	0.03497	0.1202:0.2882:0.1243:0.4672	.	227	Q8NGJ2	O52H1_HUMAN	T	227	ENSP00000326259:A227T	ENSP00000326259:A227T	A	-	1	0	OR52H1	5522651	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.552000	0.02176	-0.532000	0.06332	-0.300000	0.09419	GCA		0.498	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		16	44	0	0	0	0	16	44				
Unknown	0	broad.mit.edu	37	11	5989134	5989134	+	IGR	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:5989134C>T								OR56A3 (19543 upstream) : OR52L1 (17987 downstream)																							AGCTCTGATTCAAGGTGATGT	0.418																																						uc010qzu.1		NA																	0					0						c.(589-591)TTG>TTA		olfactory receptor, family 56, subfamily A,							94.0	80.0	84.0					11																	5989134		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5989134C>T																													11.37:g.5989134C>T							p.L197L	NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN			1	591	-			197			Extracellular (Potential).			Silent	SNP		37	c.591G>A																																																																																				0	0.418									3	7	0	0	0	0	3	7				
OR10A6	390093	broad.mit.edu	37	11	7949914	7949914	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:7949914G>T	ENST00000309838.2	-	1	295	c.296C>A	c.(295-297)gCa>gAa	p.A99E		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATACATCTGTGCAAAACAGCC	0.428																																						uc010rbh.1		NA																	0				ovary(1)|skin(1)	2						c.(295-297)GCA>GAA		olfactory receptor, family 10, subfamily A,							92.0	94.0	93.0					11																	7949914		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949914G>T	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.296C>A	11.37:g.7949914G>T	ENSP00000312470:p.Ala99Glu						p.A99E	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	296	-			99			Extracellular (Potential).		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.296C>A	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551735	0.45487	.	.	ENSG00000175393	ENST00000309838	T	0.01359	4.98	4.41	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	0.337294	0.20981	N	0.082212	T	0.03783	0.0107	M	0.93106	3.38	0.23978	N	0.996289	P	0.52577	0.954	B	0.40477	0.33	T	0.31861	-0.9928	10	0.87932	D	0	.	8.5625	0.33520	0.1918:0.0:0.8082:0.0	.	99	Q8NH74	O10A6_HUMAN	E	99	ENSP00000312470:A99E	ENSP00000312470:A99E	A	-	2	0	OR10A6	7906490	0.000000	0.05858	1.000000	0.80357	0.821000	0.46438	0.576000	0.23744	0.608000	0.30000	-0.136000	0.14681	GCA		0.428	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		21	59	1	0	2.32e-17	3.34e-17	21	59				
BBOX1	8424	broad.mit.edu	37	11	27147273	27147273	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:27147273T>A	ENST00000529202.1	+	7	1248	c.909T>A	c.(907-909)ccT>ccA	p.P303P	BBOX1_ENST00000528583.1_Silent_p.P303P|BBOX1_ENST00000263182.3_Silent_p.P303P|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000525090.1_Silent_p.P303P|RP11-1L12.3_ENST00000525302.1_RNA			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	303					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ttgatgtgcctgttgaaagag	0.373																																						uc001mre.1		NA																	0				ovary(1)	1						c.(907-909)CCT>CCA		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						93.0	79.0	84.0					11																	27147273		2202	4299	6501	SO:0001819	synonymous_variant	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27147273T>A	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.909T>A	11.37:g.27147273T>A						BBOX1_uc009yih.1_Silent_p.P303P|BBOX1_uc001mrg.1_Silent_p.P303P	p.P303P	NM_003986	NP_003977	O75936	BODG_HUMAN			8	1277	+			303					B2R8L7|D3DQZ1|Q6IBJ2	Silent	SNP	ENST00000529202.1	37	c.909T>A	CCDS7862.1																																																																																				0.373	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		3	12	0	0	0	0	3	12				
CCDC34	91057	broad.mit.edu	37	11	27379017	27379017	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:27379017G>C	ENST00000328697.6	-	2	1104	c.431C>G	c.(430-432)cCa>cGa	p.P144R	CCDC34_ENST00000317945.6_Missense_Mutation_p.P144R	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	144										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CACCTCCCATGGTGTCAGGCG	0.418																																						uc001mrh.1		NA																	0					0						c.(430-432)CCA>CGA		coiled-coil domain containing 34 isoform 1							154.0	144.0	147.0					11																	27379017		2202	4299	6501	SO:0001583	missense	91057							g.chr11:27379017G>C	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.431C>G	11.37:g.27379017G>C	ENSP00000330240:p.Pro144Arg					CCDC34_uc001mri.1_Missense_Mutation_p.P144R	p.P144R	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN			2	485	-			144					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	c.431C>G	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315276	0.81358	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.23950	1.88;1.88	5.61	5.61	0.85477	.	0.070287	0.56097	D	0.000038	T	0.48840	0.1522	L	0.58101	1.795	0.49299	D	0.999778	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.25847	-1.0120	10	0.44086	T	0.13	-4.3752	17.7741	0.88502	0.0:0.0:1.0:0.0	.	144;144	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	R	144	ENSP00000330240:P144R;ENSP00000321563:P144R	ENSP00000321563:P144R	P	-	2	0	CCDC34	27335593	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.663000	0.68038	2.802000	0.96397	0.655000	0.94253	CCA		0.418	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		34	61	0	0	0	0	34	61				
TCP11L1	55346	broad.mit.edu	37	11	33094117	33094117	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:33094117G>A	ENST00000334274.4	+	10	1825	c.1425G>A	c.(1423-1425)gaG>gaA	p.E475E	TCP11L1_ENST00000324357.9_Silent_p.E254E|TCP11L1_ENST00000531632.2_Silent_p.E475E|TCP11L1_ENST00000432887.1_Silent_p.E475E	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	475						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						TTCAGAGAGAGCTGGAGGAAG	0.493																																						uc001mud.2		NA																	0					0						c.(1423-1425)GAG>GAA		t-complex 11 (mouse) like 1							164.0	153.0	157.0					11																	33094117		2202	4298	6500	SO:0001819	synonymous_variant	55346							g.chr11:33094117G>A	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.1425G>A	11.37:g.33094117G>A						TCP11L1_uc009yju.2_Silent_p.E290E|TCP11L1_uc010rei.1_Silent_p.E475E|TCP11L1_uc001mue.2_Silent_p.E475E|TCP11L1_uc001muf.1_RNA	p.E475E	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN			10	1825	+			475					D3DR01|Q8IVX4	Silent	SNP	ENST00000334274.4	37	c.1425G>A	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	9.197	1.027396	0.19512	.	.	ENSG00000176148	ENST00000528962	.	.	.	5.41	4.49	0.54785	.	.	.	.	.	T	0.61602	0.2360	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58612	-0.7606	4	.	.	.	-19.0257	10.8005	0.46485	0.1469:0.0:0.8531:0.0	.	.	.	.	T	91	.	.	A	+	1	0	TCP11L1	33050693	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.555000	0.60767	2.530000	0.85305	0.313000	0.20887	GCT		0.493	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		47	124	0	0	0	0	47	124				
PDHX	8050	broad.mit.edu	37	11	34988233	34988233	+	Missense_Mutation	SNP	G	G	A	rs370210752		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:34988233G>A	ENST00000227868.4	+	6	772	c.688G>A	c.(688-690)Gag>Aag	p.E230K	PDHX_ENST00000448838.3_Missense_Mutation_p.E215K|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	230					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CAAGATTACCGAGTCCAGACC	0.502																																						uc001mvt.2		NA																	0				kidney(1)	1						c.(688-690)GAG>AAG		pyruvate dehydrogenase complex, component X		G	LYS/GLU,,LYS/GLU	0,4404		0,0,2202	123.0	124.0	124.0		643,,688	5.6	0.2	11		124	1,8595	1.2+/-3.3	0,1,4297	no	missense,intron,missense	PDHX	NM_001135024.1,NM_001166158.1,NM_003477.2	56,,56	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign,,benign	215/487,,230/502	34988233	1,12999	2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34988233G>A	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.688G>A	11.37:g.34988233G>A	ENSP00000227868:p.Glu230Lys					PDHX_uc010rep.1_Missense_Mutation_p.E215K|PDHX_uc010req.1_Intron	p.E230K	NM_003477	NP_003468	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		6	1214	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	230					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.688G>A	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	G	7.429	0.638377	0.14386	0.0	1.16E-4	ENSG00000110435	ENST00000448838;ENST00000227868	T;T	0.22743	2.54;1.94	5.6	5.6	0.85130	.	0.357984	0.32120	N	0.006552	T	0.15046	0.0363	N	0.24115	0.695	0.80722	D	1	B;B	0.14438	0.01;0.004	B;B	0.11329	0.006;0.004	T	0.09079	-1.0691	10	0.11182	T	0.66	-7.1253	16.4236	0.83790	0.0:0.0:1.0:0.0	.	215;230	E9PB14;O00330	.;ODPX_HUMAN	K	215;230	ENSP00000389404:E215K;ENSP00000227868:E230K	ENSP00000227868:E230K	E	+	1	0	PDHX	34944809	0.990000	0.36364	0.180000	0.23079	0.017000	0.09413	3.255000	0.51484	2.654000	0.90174	0.558000	0.71614	GAG		0.502	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		47	86	0	0	0	0	47	86				
PAMR1	25891	broad.mit.edu	37	11	35463127	35463127	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:35463127G>C	ENST00000378880.2	-	7	1380	c.935C>G	c.(934-936)tCt>tGt	p.S312C	PAMR1_ENST00000378878.3_Missense_Mutation_p.S201C|PAMR1_ENST00000278360.3_Missense_Mutation_p.S329C|PAMR1_ENST00000532848.1_Missense_Mutation_p.S272C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	312	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACAAAAGAAAGACACCACGGT	0.493																																						uc001mwg.2		NA																	0				ovary(2)	2						c.(934-936)TCT>TGT		regeneration associated muscle protease isoform							147.0	143.0	144.0					11																	35463127		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35463127G>C		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.935C>G	11.37:g.35463127G>C	ENSP00000368158:p.Ser312Cys					PAMR1_uc001mwf.2_Missense_Mutation_p.S329C|PAMR1_uc010rew.1_Missense_Mutation_p.S201C|PAMR1_uc010rex.1_Missense_Mutation_p.S272C	p.S312C	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			7	978	-			312			Sushi 1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.935C>G	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756783	0.31137	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.455727	0.26428	N	0.024425	T	0.80613	0.4656	M	0.87269	2.87	0.21220	N	0.999758	D;P;P	0.56287	0.975;0.602;0.82	P;P;B	0.57204	0.815;0.552;0.416	T	0.76484	-0.2942	10	0.87932	D	0	.	13.3983	0.60868	0.0:0.0:0.7253:0.2747	.	201;312;329	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	C	329;312;201;272;289	ENSP00000278360:S329C;ENSP00000368158:S312C;ENSP00000368156:S201C;ENSP00000433868:S272C;ENSP00000432591:S289C	ENSP00000278360:S329C	S	-	2	0	PAMR1	35419703	1.000000	0.71417	0.338000	0.25549	0.005000	0.04900	2.825000	0.48096	2.716000	0.92895	0.591000	0.81541	TCT		0.493	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		37	99	0	0	0	0	37	99				
LRRC4C	57689	broad.mit.edu	37	11	40137641	40137641	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:40137641G>C	ENST00000278198.2	-	2	2165	c.202C>G	c.(202-204)Cgt>Ggt	p.R68G	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R68G|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R68G|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R68G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	68	LRRNT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGAACCTCACGCAGGTTTTTC	0.527																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(202-204)CGT>GGT		netrin-G1 ligand precursor							94.0	81.0	85.0					11																	40137641		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137641G>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.202C>G	11.37:g.40137641G>C	ENSP00000278198:p.Arg68Gly					LRRC4C_uc001mxc.1_Missense_Mutation_p.R64G|LRRC4C_uc001mxd.1_Missense_Mutation_p.R64G|LRRC4C_uc001mxb.1_Missense_Mutation_p.R64G	p.R68G	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2166	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	68			LRRNT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.202C>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423617	0.25639	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04454	3.62;3.62;3.62;3.62	5.76	4.77	0.60923	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04861	0.0131	N	0.25485	0.75	0.40361	D	0.979248	B	0.20052	0.041	B	0.23150	0.044	T	0.48681	-0.9014	10	0.23302	T	0.38	.	15.6396	0.76984	0.0:0.0:0.827:0.173	.	68	Q9HCJ2	LRC4C_HUMAN	G	68	ENSP00000278198:R68G;ENSP00000436976:R68G;ENSP00000437132:R68G;ENSP00000434761:R68G	ENSP00000278198:R68G	R	-	1	0	LRRC4C	40094217	0.988000	0.35896	0.963000	0.40424	0.995000	0.86356	2.014000	0.40951	2.719000	0.93026	0.650000	0.86243	CGT		0.527	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		20	47	0	0	0	0	20	47				
ARFGAP2	84364	broad.mit.edu	37	11	47197400	47197400	+	Splice_Site	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:47197400A>T	ENST00000524782.1	-	3	493		c.e3+1		ARFGAP2_ENST00000426335.2_Splice_Site|ARFGAP2_ENST00000419701.2_Splice_Site|ARFGAP2_ENST00000395449.3_Splice_Site|ARFGAP2_ENST00000319543.6_Intron	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2						protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AAGGAGCTTTACCGCATTGGC	0.537																																						uc001ndt.2		NA																	0				ovary(1)	1						c.e3+1		ADP-ribosylation factor GTPase activating							140.0	123.0	129.0					11																	47197400		2201	4298	6499	SO:0001630	splice_region_variant	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47197400A>T	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.264+1T>A	11.37:g.47197400A>T						ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Splice_Site_p.A88_splice|ARFGAP2_uc001ndu.2_Splice_Site_p.A88_splice|ARFGAP2_uc010rhc.1_Intron|ARFGAP2_uc010rhd.1_Splice_Site_p.A88_splice|ARFGAP2_uc001ndv.1_Missense_Mutation_p.V89E	p.A88_splice	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN			3	279	-								B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Splice_Site	SNP	ENST00000524782.1	37	c.264_splice	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.705078	0.88924	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000419701;ENST00000527927;ENST00000525398;ENST00000525314;ENST00000528444	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5058	0.75739	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARFGAP2	47153976	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.274000	0.95731	2.131000	0.65755	0.533000	0.62120	.		0.537	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389	Intron	9	34	0	0	0	0	9	34				
MADD	8567	broad.mit.edu	37	11	47311587	47311587	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:47311587G>T	ENST00000311027.5	+	18	3151	c.2986G>T	c.(2986-2988)Gac>Tac	p.D996Y	MADD_ENST00000395336.3_Missense_Mutation_p.D996Y|MADD_ENST00000395344.3_Missense_Mutation_p.D933Y|MADD_ENST00000402799.1_Missense_Mutation_p.D933Y|MADD_ENST00000406482.1_Missense_Mutation_p.D933Y|MADD_ENST00000342922.4_Missense_Mutation_p.D976Y|MADD_ENST00000405573.2_5'Flank|MADD_ENST00000402192.2_Missense_Mutation_p.D976Y|MADD_ENST00000407859.3_Missense_Mutation_p.D953Y|MADD_ENST00000349238.3_Missense_Mutation_p.D996Y	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGCCCGGCAGGACATCATCCC	0.587																																						uc001ner.1		NA																	0				ovary(5)|skin(4)|central_nervous_system(2)	11						c.(2986-2988)GAC>TAC		MAP-kinase activating death domain-containing							55.0	51.0	52.0					11																	47311587		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47311587G>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2986G>T	11.37:g.47311587G>T	ENSP00000310933:p.Asp996Tyr					MADD_uc001neq.2_Missense_Mutation_p.D976Y|MADD_uc001nev.1_Missense_Mutation_p.D933Y|MADD_uc001nes.1_Missense_Mutation_p.D953Y|MADD_uc001net.1_Missense_Mutation_p.D996Y|MADD_uc009yln.1_Missense_Mutation_p.D933Y|MADD_uc001neu.1_Missense_Mutation_p.D933Y|MADD_uc001nex.2_Missense_Mutation_p.D996Y|MADD_uc001nez.2_Missense_Mutation_p.D933Y|MADD_uc001new.2_Missense_Mutation_p.D976Y|MADD_uc009ylo.2_5'Flank	p.D996Y	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	18	3177	+			996						Missense_Mutation	SNP	ENST00000311027.5	37	c.2986G>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990588	0.93106	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.08807	3.19;3.05;3.05;3.21;3.18;3.08;3.05;3.18;3.19	5.71	5.71	0.89125	.	0.046370	0.85682	D	0.000000	T	0.26557	0.0649	L	0.61218	1.895	0.80722	D	1	D;P;D;D;D;D;P;D;P;P	0.57571	0.966;0.941;0.966;0.965;0.98;0.98;0.938;0.965;0.942;0.938	P;P;P;P;P;P;P;P;P;P	0.60541	0.701;0.701;0.876;0.843;0.843;0.843;0.876;0.843;0.756;0.843	T	0.00099	-1.2068	10	0.87932	D	0	-22.38	19.8432	0.96699	0.0:0.0:1.0:0.0	.	933;933;996;933;933;933;996;953;996;976	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Y	976;933;933;933;996;996;953;933;996;976	ENSP00000343902:D976Y;ENSP00000385585:D933Y;ENSP00000384435:D933Y;ENSP00000304505:D996Y;ENSP00000310933:D996Y;ENSP00000384204:D953Y;ENSP00000378753:D933Y;ENSP00000378745:D996Y;ENSP00000384287:D976Y	ENSP00000310933:D996Y	D	+	1	0	MADD	47268163	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	9.461000	0.97646	2.700000	0.92200	0.462000	0.41574	GAC		0.587	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			18	49	1	0	5.39e-06	6.43e-06	18	49				
OR5L1	219437	broad.mit.edu	37	11	55579097	55579097	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:55579097G>T	ENST00000333973.2	+	1	244	c.155G>T	c.(154-156)aGc>aTc	p.S52I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S52N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATTCAGGTCAGCTCTCGGCTC	0.478																																						uc001nhw.1		NA																	1	Substitution - Missense(1)		skin(1)	skin(3)|ovary(2)	5						c.(154-156)AGC>ATC		olfactory receptor, family 5, subfamily L,							323.0	282.0	296.0					11																	55579097		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579097G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.155G>T	11.37:g.55579097G>T	ENSP00000335529:p.Ser52Ile						p.S52I	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	155	+		all_epithelial(135;0.208)	52			Cytoplasmic (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.155G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	11.50	1.658258	0.29425	.	.	ENSG00000186117	ENST00000333973	T	0.01106	5.33	4.32	-2.79	0.05841	GPCR, rhodopsin-like superfamily (1);	0.102357	0.43919	D	0.000508	T	0.01320	0.0043	L	0.46947	1.48	0.09310	N	1	B	0.20988	0.05	B	0.23018	0.043	T	0.43180	-0.9407	10	0.87932	D	0	-29.1845	10.1741	0.42929	0.5042:0.0:0.4958:0.0	.	52	Q8NGL2	OR5L1_HUMAN	I	52	ENSP00000335529:S52I	ENSP00000335529:S52I	S	+	2	0	OR5L1	55335673	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.310000	0.19356	-0.331000	0.08501	0.435000	0.28638	AGC		0.478	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		84	230	1	0	1.33e-51	2.02e-51	84	230				
TRIM51	84767	broad.mit.edu	37	11	55653180	55653180	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:55653180A>T	ENST00000449290.2	+	2	368	c.276A>T	c.(274-276)atA>atT	p.I92I	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	92						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGAGCAAATATGTGGGATGC	0.493																																						uc010rip.1		NA																	0					0						c.(274-276)ATA>ATT		SPRY domain containing 5							11.0	11.0	11.0					11																	55653180		690	1590	2280	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55653180A>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.276A>T	11.37:g.55653180A>T						SPRYD5_uc010riq.1_5'Flank	p.I92I	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	368	+		all_epithelial(135;0.226)	92			B box-type.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.276A>T																																																																																					0.493	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		6	24	0	0	0	0	6	24				
CTNND1	1500	broad.mit.edu	37	11	57559055	57559055	+	Silent	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:57559055C>G	ENST00000399050.4	+	3	641	c.105C>G	c.(103-105)cgC>cgG	p.R35R	CTNND1_ENST00000358694.6_Silent_p.R35R|CTNND1_ENST00000361391.6_Silent_p.R35R|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000529919.1_Silent_p.R35R|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000526938.1_Silent_p.R35R|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000526772.1_Intron|TMX2-CTNND1_ENST00000528395.1_3'UTR|CTNND1_ENST00000428599.2_Silent_p.R35R|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000361332.4_Silent_p.R35R|CTNND1_ENST00000529873.1_5'UTR|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000399039.4_Silent_p.R35R|CTNND1_ENST00000360682.6_Silent_p.R35R|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000361796.4_Silent_p.R35R|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000524630.1_Silent_p.R35R|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000527467.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	35					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGGAACGGCGCCACGTCTCGG	0.637																																						uc001nmc.3		NA																	0				breast(4)|ovary(1)|kidney(1)	6						c.(103-105)CGC>CGG		catenin, delta 1 isoform 1ABC							32.0	36.0	34.0					11																	57559055		2075	4192	6267	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57559055C>G	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.105C>G	11.37:g.57559055C>G						CTNND1_uc001nlf.1_Silent_p.R35R|CTNND1_uc001nlh.1_Silent_p.R35R|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Silent_p.R35R|CTNND1_uc001nmd.3_5'UTR|CTNND1_uc001nlk.3_5'UTR|CTNND1_uc001nme.3_Silent_p.R35R|CTNND1_uc001nll.3_5'UTR|CTNND1_uc001nmg.3_5'UTR|CTNND1_uc001nlj.3_5'UTR|CTNND1_uc001nlr.3_5'UTR|CTNND1_uc001nlp.3_5'UTR|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Silent_p.R35R|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Silent_p.R35R|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Silent_p.R35R|CTNND1_uc001nli.3_Silent_p.R35R|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	p.R35R	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			3	676	+		all_epithelial(135;0.155)	35			Potential.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.105C>G	CCDS44604.1																																																																																				0.637	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		9	30	0	0	0	0	9	30				
OR6Q1	219952	broad.mit.edu	37	11	57799217	57799217	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:57799217C>A	ENST00000302622.3	+	1	816	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TATGTATGTCCAGACCAAGGT	0.502																																						uc010rjz.1		NA																	0				kidney(1)	1						c.(793-795)CAG>AAG		olfactory receptor, family 6, subfamily Q,							178.0	160.0	166.0					11																	57799217		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799217C>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.793C>A	11.37:g.57799217C>A	ENSP00000307734:p.Gln265Lys					OR9Q1_uc001nmj.2_Intron	p.Q265K	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	793	+		Breast(21;0.0707)|all_epithelial(135;0.142)	265			Extracellular (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.793C>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723563	0.30593	.	.	ENSG00000172381	ENST00000302622	T	0.37058	1.22	5.03	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36134	N	0.002774	T	0.14485	0.0350	N	0.05031	-0.125	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.12344	-1.0551	10	0.49607	T	0.09	.	3.0939	0.06303	0.3641:0.3791:0.0:0.2568	.	265	Q8NGQ2	OR6Q1_HUMAN	K	265	ENSP00000307734:Q265K	ENSP00000307734:Q265K	Q	+	1	0	OR6Q1	57555793	0.000000	0.05858	0.402000	0.26371	0.759000	0.43091	0.076000	0.14712	0.204000	0.20548	-0.294000	0.09567	CAG		0.502	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		52	147	1	0	1.11e-26	1.65e-26	52	147				
DTX4	23220	broad.mit.edu	37	11	58972335	58972335	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:58972335G>A	ENST00000227451.3	+	9	1917	c.1813G>A	c.(1813-1815)Gct>Act	p.A605T	DTX4_ENST00000532982.1_Missense_Mutation_p.A499T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	605					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGCTGAACTGGCTGCCCAGGG	0.552																																						uc001nns.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(1813-1815)GCT>ACT		deltex 4 homolog							58.0	59.0	58.0					11																	58972335		2029	4199	6228	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58972335G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1813G>A	11.37:g.58972335G>A	ENSP00000227451:p.Ala605Thr					DTX4_uc001nnr.2_Missense_Mutation_p.A499T	p.A605T	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			9	2070	+		all_epithelial(135;0.125)	605					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1813G>A	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306406	0.40795	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.47177	0.85;0.85	5.59	5.59	0.84812	.	0.220305	0.40064	N	0.001185	T	0.47930	0.1472	M	0.72353	2.195	0.31977	N	0.606411	B	0.26318	0.146	B	0.24974	0.057	T	0.55147	-0.8186	10	0.32370	T	0.25	.	14.0283	0.64599	0.0:0.1516:0.8484:0.0	.	605	Q9Y2E6	DTX4_HUMAN	T	499;605	ENSP00000434055:A499T;ENSP00000227451:A605T	ENSP00000227451:A605T	A	+	1	0	DTX4	58728911	0.769000	0.28531	1.000000	0.80357	0.995000	0.86356	2.186000	0.42593	2.646000	0.89796	0.591000	0.81541	GCT		0.552	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		4	13	0	0	0	0	4	13				
AHNAK	79026	broad.mit.edu	37	11	62297619	62297619	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:62297619C>G	ENST00000378024.4	-	5	4544	c.4270G>C	c.(4270-4272)Gat>Cat	p.D1424H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1424					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATATTCACATCTGGAACTTCA	0.468																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(4270-4272)GAT>CAT		AHNAK nucleoprotein isoform 1							185.0	198.0	194.0					11																	62297619		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297619C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4270G>C	11.37:g.62297619C>G	ENSP00000367263:p.Asp1424His					AHNAK_uc001ntk.1_Intron	p.D1424H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4570	-		Melanoma(852;0.155)	1424					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4270G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	12.56	1.975720	0.34848	.	.	ENSG00000124942	ENST00000378024	T	0.01854	4.6	4.32	4.32	0.51571	.	.	.	.	.	T	0.09069	0.0224	M	0.93106	3.38	0.31341	N	0.683605	P	0.45428	0.858	P	0.45856	0.495	T	0.02519	-1.1147	9	0.59425	D	0.04	.	11.5046	0.50459	0.0:0.9103:0.0:0.0897	.	1424	Q09666	AHNK_HUMAN	H	1424	ENSP00000367263:D1424H	ENSP00000367263:D1424H	D	-	1	0	AHNAK	62054195	0.000000	0.05858	0.948000	0.38648	0.110000	0.19582	0.653000	0.24902	2.126000	0.65437	0.550000	0.68814	GAT		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		81	228	0	0	0	0	81	228				
GANAB	23193	broad.mit.edu	37	11	62393907	62393907	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:62393907C>T	ENST00000356638.3	-	22	2540	c.2524G>A	c.(2524-2526)Gga>Aga	p.G842R	GANAB_ENST00000346178.4_Missense_Mutation_p.G864R|GANAB_ENST00000540933.1_Missense_Mutation_p.G745R|GANAB_ENST00000534779.1_Missense_Mutation_p.G750R	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	842					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AAGAGCTCTCCTTGAGCTGTA	0.557																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2524-2526)GGA>AGA		neutral alpha-glucosidase AB isoform 2							105.0	94.0	98.0					11																	62393907		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62393907C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2524G>A	11.37:g.62393907C>T	ENSP00000349053:p.Gly842Arg					GANAB_uc001ntz.2_Missense_Mutation_p.G29R|GANAB_uc001nua.2_Missense_Mutation_p.G864R|GANAB_uc001nuc.2_Missense_Mutation_p.G745R|GANAB_uc010rma.1_Missense_Mutation_p.G750R|GANAB_uc010rmb.1_Missense_Mutation_p.G728R	p.G842R	NM_198334	NP_938148	Q14697	GANAB_HUMAN			22	2557	-			842					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.2524G>A	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295509	0.81025	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.92299	-2.95;-2.91;-3.01;-2.93	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	1.0;1.0;0.977;0.993	D	0.98198	1.0466	10	0.87932	D	0	-9.2038	15.2063	0.73180	0.0:1.0:0.0:0.0	.	728;750;842;864	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	R	864;842;750;745	ENSP00000340466:G864R;ENSP00000349053:G842R;ENSP00000435306:G750R;ENSP00000442962:G745R	ENSP00000340466:G864R	G	-	1	0	GANAB	62150483	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.426000	0.80270	2.430000	0.82344	0.655000	0.94253	GGA		0.557	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		20	50	0	0	0	0	20	50				
SYVN1	84447	broad.mit.edu	37	11	64898172	64898172	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:64898172A>G	ENST00000377190.3	-	11	1159	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	SYVN1_ENST00000526060.1_Silent_p.P355P|SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Silent_p.P355P|SYVN1_ENST00000307289.6_Silent_p.P304P	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	355	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGTGGGGGGCAGGGGGTGGCC	0.672																																						uc001odb.2		NA																	0				ovary(1)	1						c.(1063-1065)CCT>CCC		synoviolin 1 isoform b							8.0	11.0	10.0					11																	64898172		1862	3812	5674	SO:0001819	synonymous_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64898172A>G	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1065T>C	11.37:g.64898172A>G						SYVN1_uc001odc.2_Silent_p.P355P|SYVN1_uc009yqc.2_Silent_p.P304P	p.P355P	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN			11	1159	-			355			Pro-rich.|Cytoplasmic (Potential).		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	c.1065T>C	CCDS31605.1																																																																																				0.672	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431		3	18	0	0	0	0	3	18				
KCNK7	10089	broad.mit.edu	37	11	65360635	65360635	+	Silent	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:65360635G>C	ENST00000340313.4	-	3	988	c.765C>G	c.(763-765)acC>acG	p.T255T	AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394216.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	255					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GCTCAGAGAAGGTCTCCACTG	0.612																																						uc001oes.2		NA																	0					0						c.(763-765)ACC>ACG		potassium channel, subfamily K, member 7 isoform							54.0	53.0	53.0					11																	65360635		2200	4297	6497	SO:0001819	synonymous_variant	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360635G>C	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.765C>G	11.37:g.65360635G>C						KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR	p.T255T	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN			3	989	-			255			Cytoplasmic (Potential).		Q3SYI2|Q9Y2U3|Q9Y2U4	Silent	SNP	ENST00000340313.4	37	c.765C>G	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	G	5.052	0.195290	0.09599	.	.	ENSG00000173338	ENST00000530380	.	.	.	4.87	-3.74	0.04385	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33317	-0.9873	4	.	.	.	.	0.4218	0.00457	0.2348:0.2382:0.2842:0.2428	.	.	.	.	V	20	.	.	L	-	1	0	KCNK7	65117211	0.000000	0.05858	0.017000	0.16124	0.027000	0.11550	-1.490000	0.02304	-0.792000	0.04480	0.561000	0.74099	CTT		0.612	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		6	20	0	0	0	0	6	20				
RELA	5970	broad.mit.edu	37	11	65421990	65421990	+	Silent	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:65421990T>A	ENST00000406246.3	-	11	1776	c.1515A>T	c.(1513-1515)acA>acT	p.T505T	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Silent_p.T502T	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	505					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TCTGGGCCCCTGTCACTAGGC	0.632																																						uc001ofg.2		NA																	0				lung(3)|ovary(1)	4						c.(1513-1515)ACA>ACT		v-rel reticuloendotheliosis viral oncogene							33.0	38.0	36.0					11																	65421990		2201	4297	6498	SO:0001819	synonymous_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65421990T>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1515A>T	11.37:g.65421990T>A						RELA_uc001ofh.2_Silent_p.T502T|RELA_uc010ron.1_Silent_p.T516T|RELA_uc009yqr.2_Silent_p.T452T|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Intron	p.T505T	NM_021975	NP_068810	Q04206	TF65_HUMAN			11	1655	-			505					Q6GTV1|Q6SLK1	Silent	SNP	ENST00000406246.3	37	c.1515A>T	CCDS31609.1																																																																																				0.632	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		17	42	0	0	0	0	17	42				
ACY3	91703	broad.mit.edu	37	11	67414349	67414349	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:67414349C>G	ENST00000255082.3	-	3	336	c.166G>C	c.(166-168)Gca>Cca	p.A56P	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	56	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GATGTGGCTGCCGGGTTGGCC	0.657																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.2		NA																	0					0						c.(166-168)GCA>CCA		aspartoacylase 3	L-Aspartic Acid(DB00128)						22.0	23.0	22.0					11																	67414349		2198	4293	6491	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67414349C>G	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.166G>C	11.37:g.67414349C>G	ENSP00000255082:p.Ala56Pro						p.A56P	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			3	337	-			56						Missense_Mutation	SNP	ENST00000255082.3	37	c.166G>C	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	C	8.115	0.779717	0.16120	.	.	ENSG00000132744	ENST00000255082	D	0.97256	-4.31	3.88	-0.0626	0.13780	.	1.052290	0.07496	N	0.906497	D	0.92825	0.7718	L	0.45352	1.415	0.09310	N	0.999995	P	0.43857	0.819	B	0.37091	0.241	D	0.85972	0.1477	10	0.25751	T	0.34	.	5.6124	0.17412	0.0:0.2237:0.5768:0.1994	.	56	Q96HD9	ACY3_HUMAN	P	56	ENSP00000255082:A56P	ENSP00000255082:A56P	A	-	1	0	ACY3	67170925	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.218000	0.09240	0.191000	0.20236	0.462000	0.41574	GCA		0.657	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		4	19	0	0	0	0	4	19				
SUV420H1	51111	broad.mit.edu	37	11	67926430	67926430	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:67926430C>T	ENST00000304363.4	-	11	1736	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	461					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCTTTTGCTCCAGCCGCTTGC	0.348																																						uc001onm.1		NA																	0				ovary(2)|kidney(1)	3						c.(1381-1383)CTG>CTA		suppressor of variegation 4-20 homolog 1 isoform							75.0	79.0	78.0					11																	67926430		2200	4294	6494	SO:0001819	synonymous_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926430C>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1383G>A	11.37:g.67926430C>T						SUV420H1_uc009yse.1_Silent_p.L47L|SUV420H1_uc001onn.1_Silent_p.L289L|SUV420H1_uc009ysf.2_Silent_p.L221L	p.L461L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	1639	-			461					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	c.1383G>A	CCDS31623.1																																																																																				0.348	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		16	69	0	0	0	0	16	69				
EED	8726	broad.mit.edu	37	11	85977217	85977217	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:85977217A>T	ENST00000263360.6	+	8	1505	c.819A>T	c.(817-819)gcA>gcT	p.A273A	EED_ENST00000528180.1_Intron|EED_ENST00000351625.6_Silent_p.A273A|EED_ENST00000327320.4_Silent_p.A273A	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	273	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TGATGAATGCAATTAAGGAAT	0.299																																						uc001pbp.2		NA																	0				skin(1)|pancreas(1)	2						c.(817-819)GCA>GCT		embryonic ectoderm development isoform a							81.0	93.0	89.0					11																	85977217		2202	4283	6485	SO:0001819	synonymous_variant	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85977217A>T	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.819A>T	11.37:g.85977217A>T						EED_uc010rtm.1_Silent_p.A273A|EED_uc001pbq.2_Silent_p.A273A|EED_uc001pbr.2_Silent_p.A273A|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA	p.A273A	NM_003797	NP_003788	O75530	EED_HUMAN			8	1276	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	273			Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Silent	SNP	ENST00000263360.6	37	c.819A>T	CCDS8273.1																																																																																				0.299	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		24	91	0	0	0	0	24	91				
FOLH1B	219595	broad.mit.edu	37	11	89402587	89402587	+	RNA	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:89402587C>T	ENST00000532352.1	+	0	824							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATGGGTGGCTCAGCACCACCA	0.378																																						uc001pda.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10-12)TCA>TTA		folate hydrolase 1B							91.0	80.0	84.0					11																	89402587		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89402587C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89402587C>T							p.S4L	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			3	537	+			4						Missense_Mutation	SNP	ENST00000532352.1	37	c.11C>T																																																																																					0.378	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		15	37	0	0	0	0	15	37				
HEPHL1	341208	broad.mit.edu	37	11	93797618	93797618	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:93797618C>A	ENST00000315765.9	+	4	758	c.750C>A	c.(748-750)acC>acA	p.T250T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	250	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTTCTGCACCAACCCTGATT	0.408																																						uc001pep.2		NA																	0				ovary(3)	3						c.(748-750)ACC>ACA		hephaestin-like 1 precursor							128.0	116.0	120.0					11																	93797618		1864	4099	5963	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93797618C>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.750C>A	11.37:g.93797618C>A							p.T250T	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			4	907	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	250			Plastocyanin-like 2.|Extracellular (Potential).		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.750C>A	CCDS44710.1																																																																																				0.408	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		12	27	1	0	0.00185496	0.00204849	12	27				
FOLR4	390243	broad.mit.edu	37	11	94040453	94040453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:94040453G>A	ENST00000440961.2	+	3	494	c.450G>A	c.(448-450)tgG>tgA	p.W150*		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	157					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GTGGTGGCTGGGACTGGAGTC	0.587																																						uc010rud.1		NA																	0				ovary(1)	1						c.(448-450)TGG>TGA		folate receptor 4 (delta) homolog							87.0	94.0	92.0					11																	94040453		2199	4297	6496	SO:0001587	stop_gained	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040453G>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.450G>A	11.37:g.94040453G>A	ENSP00000416935:p.Trp150*						p.W150*	NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN			3	450	+			157						Nonsense_Mutation	SNP	ENST00000440961.2	37	c.450G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.355478|3.355478	0.61293|0.61293	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000328458|ENST00000440961	.|.	.|.	.|.	4.43|4.43	3.5|3.5	0.40072|0.40072	.|.	.|0.124363	.|0.64402	.|D	.|0.000016	T|.	0.62768|.	0.2455|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61471|.	-0.7056|.	4|.	.|.	.|.	.|.	-22.3311|-22.3311	12.2578|12.2578	0.54633|0.54633	0.0:0.1732:0.8268:0.0|0.0:0.1732:0.8268:0.0	.|.	.|.	.|.	.|.	E|X	151|150	.|.	.|.	G|W	+|+	2|3	0|0	FOLR4|FOLR4	93680101|93680101	1.000000|1.000000	0.71417|0.71417	0.882000|0.882000	0.34594|0.34594	0.579000|0.579000	0.36224|0.36224	5.810000|5.810000	0.69179|0.69179	1.195000|1.195000	0.43115|0.43115	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.587	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		4	22	0	0	0	0	4	22				
GUCY1A2	2977	broad.mit.edu	37	11	106579253	106579253	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:106579253C>A	ENST00000526355.2	-	7	2444	c.1976G>T	c.(1975-1977)aGc>aTc	p.S659I	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S690I|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S680I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	659					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AGTGGTTGGGCTGACATTGAT	0.502																																						uc001pjg.1		NA																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1975-1977)AGC>ATC		guanylate cyclase 1, soluble, alpha 2							154.0	146.0	149.0					11																	106579253		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106579253C>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1976G>T	11.37:g.106579253C>A	ENSP00000431245:p.Ser659Ile					GUCY1A2_uc010rvo.1_Missense_Mutation_p.S680I|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S690I	p.S659I	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	7	2366	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	659					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1976G>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999230	0.93227	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.89552	-2.53;-1.85;-2.53	6.02	6.02	0.97574	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.53938	U	0.000055	D	0.97451	0.9166	H	0.99555	4.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.98550	1.0636	10	0.87932	D	0	.	19.5289	0.95219	0.0:1.0:0.0:0.0	.	680;690;659	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	I	659;690;680	ENSP00000431245:S659I;ENSP00000282249:S690I;ENSP00000344874:S680I	ENSP00000282249:S690I	S	-	2	0	GUCY1A2	106084463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.865000	0.98341	0.655000	0.94253	AGC		0.502	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			15	42	1	0	2.32e-05	2.7e-05	15	42				
SIK3	23387	broad.mit.edu	37	11	116797940	116797940	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:116797940A>T	ENST00000292055.4	-	4	472	c.437T>A	c.(436-438)aTa>aAa	p.I146K	SIK3_ENST00000434315.2_Missense_Mutation_p.I45K|SIK3_ENST00000542607.1_Missense_Mutation_p.I146K|SIK3_ENST00000446921.2_Missense_Mutation_p.I204K|SIK3_ENST00000375300.1_Missense_Mutation_p.I204K|SIK3_ENST00000375288.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTCACCTGCTATTTTGATATT	0.398																																						uc001ppy.2		NA																	0				ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(436-438)ATA>AAA		serine/threonine-protein kinase QSK							109.0	110.0	109.0					11																	116797940		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116797940A>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.437T>A	11.37:g.116797940A>T	ENSP00000292055:p.Ile146Lys					SIK3_uc001ppz.2_Missense_Mutation_p.I45K|SIK3_uc001pqa.2_Missense_Mutation_p.I146K	p.I146K	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			4	473	-			146			Protein kinase.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.437T>A	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.0|29.0	4.966950|4.966950	0.92855|0.92855	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921;ENST00000413553	T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.46758|.	U|.	0.000278|.	D|D	0.87736|0.87736	0.6252|0.6252	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.91581|0.91581	0.5279|0.5279	10|5	0.87932|.	D|.	0|.	.|.	16.1667|16.1667	0.81768|0.81768	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	146;45;146|.	A1A5A8;A1A5A9;Q9Y2K2|.	.;.;SIK3_HUMAN|.	K|K	204;146;146;45|197;168;106	ENSP00000364449:I204K;ENSP00000292055:I146K;ENSP00000438108:I146K;ENSP00000415873:I45K|.	ENSP00000292055:I146K|.	I|N	-|-	2|3	0|2	SIK3|SIK3	116303150|116303150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.920000|8.920000	0.92779|0.92779	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.398	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		25	58	0	0	0	0	25	58				
SORL1	6653	broad.mit.edu	37	11	121485640	121485640	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:121485640G>T	ENST00000260197.7	+	41	5609	c.5480G>T	c.(5479-5481)gGg>gTg	p.G1827V	SORL1_ENST00000534286.1_Missense_Mutation_p.G737V|SORL1_ENST00000532694.1_Missense_Mutation_p.G673V|SORL1_ENST00000527934.1_Missense_Mutation_p.G442V|SORL1_ENST00000525532.1_Missense_Mutation_p.G771V	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1827	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTGACTTGGGGGATAGCCCT	0.517																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(5479-5481)GGG>GTG		sortilin-related receptor containing LDLR class							114.0	98.0	104.0					11																	121485640		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121485640G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5480G>T	11.37:g.121485640G>T	ENSP00000260197:p.Gly1827Val					SORL1_uc010rzp.1_Missense_Mutation_p.G673V|SORL1_uc010rzq.1_Missense_Mutation_p.G442V	p.G1827V	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	41	5560	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1827			Extracellular (Potential).|Fibronectin type-III 3.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5480G>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496048	0.85069	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.91	5.91	0.95273	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73288	-0.4030	10	0.59425	D	0.04	.	19.9003	0.96983	0.0:0.0:1.0:0.0	.	442;1827	E9PKB0;Q92673	.;SORL_HUMAN	V	1827;771;673;737;442	ENSP00000260197:G1827V;ENSP00000434634:G771V;ENSP00000432131:G673V;ENSP00000436447:G737V;ENSP00000435405:G442V	ENSP00000260197:G1827V	G	+	2	0	SORL1	120990850	1.000000	0.71417	0.870000	0.34147	0.996000	0.88848	9.082000	0.94059	2.808000	0.96608	0.655000	0.94253	GGG		0.517	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		30	56	1	0	5.77e-19	8.37e-19	30	56				
CRTAM	56253	broad.mit.edu	37	11	122709301	122709301	+	Splice_Site	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:122709301G>A	ENST00000227348.4	+	1	93		c.e1+1			NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCCTTGCAAGGTAAGGACTTA	0.458																																						uc001pyj.2		NA																	0				ovary(1)	1						c.e1+1		class-I MHC-restricted T cell associated							309.0	240.0	264.0					11																	122709301		2202	4299	6501	SO:0001630	splice_region_variant	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122709301G>A	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.46+1G>A	11.37:g.122709301G>A							p.E16_splice	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	1	46	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)							Splice_Site	SNP	ENST00000227348.4	37	c.46_splice	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967810	0.53507	.	.	ENSG00000109943	ENST00000227348	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4574	0.61208	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRTAM	122214511	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.235000	0.58666	2.527000	0.85204	0.563000	0.77884	.		0.458	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604	Intron	16	51	0	0	0	0	16	51				
OR10G8	219869	broad.mit.edu	37	11	123900617	123900617	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:123900617C>T	ENST00000431524.1	+	1	321	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCACAGCTGCATGGCTCAGC	0.527																																						uc001pzp.1		NA																	0				ovary(1)|skin(1)	2						c.(286-288)TGC>TGT		olfactory receptor, family 10, subfamily G,							184.0	166.0	172.0					11																	123900617		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900617C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.288C>T	11.37:g.123900617C>T							p.C96C	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	288	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	96			Extracellular (Potential).		B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.288C>T	CCDS31704.1																																																																																				0.527	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		41	130	0	0	0	0	41	130				
Unknown	0	broad.mit.edu	37	11	124095640	124095640	+	IGR	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:124095640C>T								OR10D3 (38688 upstream) : OR8G1 (24782 downstream)																							GTCTGTCCTTCATTGATATCT	0.463																																						uc010saf.1		NA																	0					0						c.(241-243)TTC>TTT		olfactory receptor, family 8, subfamily G,							159.0	158.0	158.0					11																	124095640		2138	4277	6415	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124095640C>T																													11.37:g.124095640C>T							p.F81F	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	243	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	81						Silent	SNP		37	c.243C>T																																																																																				0	0.463									50	117	0	0	0	0	50	117				
SNX19	399979	broad.mit.edu	37	11	130785267	130785267	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:130785267C>T	ENST00000265909.4	-	1	1137	c.568G>A	c.(568-570)Gag>Aag	p.E190K	SNX19_ENST00000533214.1_Missense_Mutation_p.E190K|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	190	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CAGTAAGCCTCCCAGAGGTGG	0.572																																						uc001qgk.3		NA																	0				ovary(2)|lung(2)	4						c.(568-570)GAG>AAG		sorting nexin 19							38.0	36.0	37.0					11																	130785267		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785267C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.568G>A	11.37:g.130785267C>T	ENSP00000265909:p.Glu190Lys					SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E190K|SNX19_uc009zcx.1_Intron	p.E190K	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1116	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	190			PXA.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.568G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	9.826	1.187215	0.21870	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.14391	2.91;2.51	5.4	5.4	0.78164	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.504269	0.24325	N	0.039504	T	0.08133	0.0203	N	0.24115	0.695	0.80722	D	1	B;B	0.17038	0.02;0.007	B;B	0.18263	0.013;0.021	T	0.12708	-1.0537	10	0.06494	T	0.89	-8.4739	9.9063	0.41377	0.0:0.7149:0.209:0.0761	.	190;190	E9PKB9;Q92543	.;SNX19_HUMAN	K	190	ENSP00000265909:E190K;ENSP00000435390:E190K	ENSP00000265909:E190K	E	-	1	0	SNX19	130290477	0.469000	0.25846	1.000000	0.80357	0.555000	0.35460	0.571000	0.23669	2.518000	0.84900	0.555000	0.69702	GAG		0.572	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		7	38	0	0	0	0	7	38				
NTM	50863	broad.mit.edu	37	11	132180115	132180115	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:132180115G>A	ENST00000374786.1	+	5	1250	c.771G>A	c.(769-771)aaG>aaA	p.K257K	NTM_ENST00000425719.2_Silent_p.K257K|NTM_ENST00000374791.3_Silent_p.K257K|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Silent_p.K248K|NTM_ENST00000374784.1_Silent_p.K257K|NTM_ENST00000539799.1_Silent_p.K257K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	257	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTGGTACAAGGATGACAAAA	0.512																																						uc001qgp.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(769-771)AAG>AAA		neurotrimin isoform 1							165.0	161.0	162.0					11																	132180115		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132180115G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.771G>A	11.37:g.132180115G>A						NTM_uc001qgm.2_Silent_p.K257K|NTM_uc010sch.1_Silent_p.K248K|NTM_uc010sci.1_Silent_p.K257K|NTM_uc010scj.1_Silent_p.K216K|NTM_uc001qgo.2_Silent_p.K257K|NTM_uc001qgq.2_Silent_p.K257K|NTM_uc001qgr.2_5'UTR	p.K257K	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			5	1435	+			257			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.771G>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	9.991	1.230766	0.22542	.	.	ENSG00000182667	ENST00000457381	.	.	.	5.93	5.02	0.67125	.	.	.	.	.	T	0.60248	0.2254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58869	-0.7560	4	.	.	.	-24.5284	9.4993	0.39008	0.1986:0.0:0.8014:0.0	.	.	.	.	K	9	.	.	R	+	2	0	NTM	131685325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.059000	0.57470	1.522000	0.49001	0.561000	0.74099	AGG		0.512	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		53	137	0	0	0	0	53	137				
ADIPOR2	79602	broad.mit.edu	37	12	1895200	1895200	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:1895200A>G	ENST00000357103.4	+	8	1374	c.1123A>G	c.(1123-1125)Atg>Gtg	p.M375V		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	375					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTTCGTTTCATGATCGGCGG	0.537																																						uc001qjm.2		NA																	0					0						c.(1123-1125)ATG>GTG		adiponectin receptor 2							134.0	131.0	132.0					12																	1895200		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1895200A>G	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.1123A>G	12.37:g.1895200A>G	ENSP00000349616:p.Met375Val					ADIPOR2_uc001qjn.2_Missense_Mutation_p.M375V	p.M375V	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		8	1320	+	Ovarian(42;0.107)		375			Extracellular (Potential).		Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.1123A>G	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	A	8.494	0.862640	0.17178	.	.	ENSG00000006831	ENST00000357103	T	0.16743	2.32	5.29	5.29	0.74685	.	0.229783	0.49305	D	0.000141	T	0.10981	0.0268	N	0.12569	0.235	0.32312	N	0.563545	B	0.11235	0.004	B	0.06405	0.002	T	0.07597	-1.0764	10	0.27082	T	0.32	-14.4029	15.2228	0.73327	1.0:0.0:0.0:0.0	.	375	Q86V24	ADR2_HUMAN	V	375	ENSP00000349616:M375V	ENSP00000349616:M375V	M	+	1	0	ADIPOR2	1765461	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.588000	0.67517	1.993000	0.58246	0.533000	0.62120	ATG		0.537	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		90	101	0	0	0	0	90	101				
TEAD4	7004	broad.mit.edu	37	12	3147246	3147246	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:3147246T>A	ENST00000397122.2	+	9	908	c.623T>A	c.(622-624)tTc>tAc	p.F208Y	TEAD4_ENST00000358409.2_Missense_Mutation_p.F294Y|TEAD4_ENST00000359864.2_Missense_Mutation_p.F337Y	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	337					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCTGCTCTTTCGGCAAGCAG	0.577																																						uc010sej.1		NA																	0					0						c.(1006-1008)TTC>TAC		TEA domain family member 4 isoform 1							87.0	80.0	83.0					12																	3147246		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3147246T>A	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.623T>A	12.37:g.3147246T>A	ENSP00000380311:p.Phe208Tyr					TEAD4_uc010sek.1_Missense_Mutation_p.F293Y|TEAD4_uc001qln.2_Missense_Mutation_p.F208Y	p.F336Y	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		11	1284	+	Ovarian(42;0.211)		337	F->A: Reduced interaction with YAP1.				H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.1007T>A	CCDS41737.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122391	0.77436	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.34072	1.38;1.38;1.38	4.77	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	H	0.94734	3.575	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.71461	-0.4586	10	0.87932	D	0	-23.0434	9.4746	0.38864	0.0:0.084:0.0:0.9159	.	337	Q15561	TEAD4_HUMAN	Y	294;337;208	ENSP00000351184:F294Y;ENSP00000352926:F337Y;ENSP00000380311:F208Y	ENSP00000351184:F294Y	F	+	2	0	TEAD4	3017507	1.000000	0.71417	0.262000	0.24481	0.882000	0.50991	8.003000	0.88520	0.679000	0.31345	-0.250000	0.11733	TTC		0.577	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		31	112	0	0	0	0	31	112				
DYRK4	8798	broad.mit.edu	37	12	4702204	4702204	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:4702204A>G	ENST00000540757.2	+	4	315	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	DYRK4_ENST00000543431.1_Missense_Mutation_p.Y52C|DYRK4_ENST00000010132.5_Missense_Mutation_p.Y52C	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	52						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTGTCTCCATATGAACAAAGT	0.483																																						uc001qmx.2		NA																	0				lung(2)|skin(1)	3						c.(154-156)TAT>TGT		dual-specificity tyrosine-(Y)-phosphorylation							80.0	86.0	84.0					12																	4702204		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4702204A>G	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.155A>G	12.37:g.4702204A>G	ENSP00000441755:p.Tyr52Cys					DYRK4_uc009zeh.1_Missense_Mutation_p.Y167C|DYRK4_uc001qmy.1_Missense_Mutation_p.Y52C	p.Y52C	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		4	315	+			52					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.155A>G	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287359	0.40494	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.67171	-0.25;-0.22;-0.22;-0.23	4.93	4.93	0.64822	.	0.064295	0.64402	D	0.000004	D	0.82715	0.5097	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.73380	0.98;0.973;0.96	D	0.85502	0.1192	10	0.87932	D	0	.	9.7726	0.40598	0.8461:0.0:0.0:0.1539	.	167;52;52	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	C	167;52;52;52	ENSP00000437534:Y167C;ENSP00000441755:Y52C;ENSP00000010132:Y52C;ENSP00000439697:Y52C	ENSP00000010132:Y52C	Y	+	2	0	DYRK4	4572465	1.000000	0.71417	0.965000	0.40720	0.246000	0.25737	2.560000	0.45896	2.074000	0.62210	0.418000	0.28097	TAT		0.483	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			29	103	0	0	0	0	29	103				
NCAPD2	9918	broad.mit.edu	37	12	6623493	6623493	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:6623493G>T	ENST00000315579.5	+	7	1449	c.650G>T	c.(649-651)cGc>cTc	p.R217L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R172L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	217	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGAAGAACCGCCCCACTCGG	0.488																																						uc001qoo.2		NA																	0				ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(649-651)CGC>CTC		non-SMC condensin I complex, subunit D2							111.0	118.0	116.0					12																	6623493		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6623493G>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.650G>T	12.37:g.6623493G>T	ENSP00000325017:p.Arg217Leu					NCAPD2_uc009zen.1_Missense_Mutation_p.R89L|NCAPD2_uc010sfd.1_Missense_Mutation_p.R172L	p.R217L	NM_014865	NP_055680	Q15021	CND1_HUMAN			7	696	+			217			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.650G>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215635	0.79352	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.43294	0.95;0.95;0.95	5.79	5.79	0.91817	Condensin complex, subunit 1, N-terminal (1);	0.060470	0.64402	D	0.000001	T	0.54902	0.1887	L	0.54323	1.7	0.50632	D	0.999883	D;D;D	0.59357	0.985;0.962;0.979	P;D;P	0.65140	0.813;0.932;0.831	T	0.52503	-0.8567	10	0.45353	T	0.12	-17.6172	10.4246	0.44369	0.1441:0.0:0.8559:0.0	.	172;178;217	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	217;89;172;89	ENSP00000325017:R217L;ENSP00000371895:R89L;ENSP00000444417:R172L	ENSP00000325017:R217L	R	+	2	0	NCAPD2	6493754	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	5.896000	0.69822	2.735000	0.93741	0.643000	0.83706	CGC		0.488	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		47	223	1	0	4.19e-23	6.17e-23	47	223				
LEPREL2	10536	broad.mit.edu	37	12	6940435	6940435	+	RNA	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:6940435G>A	ENST00000538102.1	+	0	259				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.P346P(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTTCTACCCGGAGGATGAGG	0.587																																						uc001qra.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(1039-1041)CCG>CCA		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						97.0	102.0	100.0					12																	6940435		1973	4146	6119			10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6940435G>A	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6940435G>A						LEPREL2_uc001qqz.1_Silent_p.P154P|LEPREL2_uc001qrb.1_Silent_p.P154P	p.P347P	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			7	1075	+			347			TPR 4.		Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	Silent	SNP	ENST00000538102.1	37	c.1041G>A																																																																																					0.587	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		25	154	0	0	0	0	25	154				
PZP	5858	broad.mit.edu	37	12	9356471	9356471	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:9356471T>A	ENST00000261336.2	-	2	188	c.160A>T	c.(160-162)Aat>Tat	p.N54Y	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	54					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACTGTCTCATTCAGGTGGCTC	0.532																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(160-162)AAT>TAT		pregnancy-zone protein precursor							107.0	103.0	104.0					12																	9356471		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9356471T>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.160A>T	12.37:g.9356471T>A	ENSP00000261336:p.Asn54Tyr					PZP_uc009zgl.2_5'UTR	p.N54Y	NM_002864	NP_002855					2	189	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.160A>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	9.267	1.044642	0.19748	.	.	ENSG00000126838	ENST00000261336	T	0.46451	0.87	2.22	2.22	0.28083	TonB box, conserved site (1);	0.000000	0.46442	U	0.000290	T	0.63094	0.2482	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	T	0.65742	-0.6094	10	0.87932	D	0	.	6.4277	0.21778	0.0:0.0:0.0:1.0	.	54	P20742	PZP_HUMAN	Y	54	ENSP00000261336:N54Y	ENSP00000261336:N54Y	N	-	1	0	PZP	9247738	1.000000	0.71417	0.769000	0.31535	0.390000	0.30446	4.111000	0.57838	1.298000	0.44778	0.383000	0.25322	AAT		0.532	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		31	105	0	0	0	0	31	105				
GRIN2B	2904	broad.mit.edu	37	12	14018983	14018983	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:14018983G>A	ENST00000609686.1	-	2	369	c.160C>T	c.(160-162)Cac>Tac	p.H54Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	54					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTTCTCGTGGGCATCCTTG	0.572																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(160-162)CAC>TAC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						126.0	115.0	118.0					12																	14018983		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14018983G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.160C>T	12.37:g.14018983G>A	ENSP00000477455:p.His54Tyr						p.H54Y	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	339	-			54			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.160C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995159	0.35226	.	.	ENSG00000150086	ENST00000279593	T	0.10763	2.84	5.69	5.69	0.88448	.	0.134734	0.52532	D	0.000069	T	0.06371	0.0164	N	0.08118	0	0.31182	N	0.70196	B	0.15930	0.015	B	0.11329	0.006	T	0.12682	-1.0538	10	0.02654	T	1	.	19.8218	0.96599	0.0:0.0:1.0:0.0	.	54	Q13224	NMDE2_HUMAN	Y	54	ENSP00000279593:H54Y	ENSP00000279593:H54Y	H	-	1	0	GRIN2B	13910250	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.377000	0.59562	2.676000	0.91093	0.557000	0.71058	CAC		0.572	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			23	113	0	0	0	0	23	113				
SLCO1C1	53919	broad.mit.edu	37	12	20893179	20893179	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:20893179T>C	ENST00000266509.2	+	12	1978	c.1610T>C	c.(1609-1611)aTa>aCa	p.I537T	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.I537T|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.I537T|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.I419T|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.I488T	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	537					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TCCTCAGGCATAGTGGGAAGA	0.388																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1609-1611)ATA>ACA		solute carrier organic anion transporter family,							175.0	167.0	169.0					12																	20893179		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20893179T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1610T>C	12.37:g.20893179T>C	ENSP00000266509:p.Ile537Thr					SLCO1C1_uc010sii.1_Missense_Mutation_p.I537T|SLCO1C1_uc010sij.1_Missense_Mutation_p.I488T|SLCO1C1_uc009zip.2_Missense_Mutation_p.I371T|SLCO1C1_uc001rei.2_Missense_Mutation_p.I537T|SLCO1C1_uc010sik.1_Missense_Mutation_p.I419T	p.I537T	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			13	1965	+	Esophageal squamous(101;0.149)		537			Extracellular (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1610T>C	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	7.885	0.731090	0.15507	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	4.89	2.54	0.30619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.697910	0.15410	N	0.263842	T	0.11537	0.0281	N	0.01454	-0.855	0.22675	N	0.998867	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.001;0.004;0.001	T	0.32508	-0.9904	10	0.06891	T	0.86	.	8.8743	0.35337	0.0:0.1527:0.0:0.8473	.	419;488;537;537	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	T	537;488;537;537;419	ENSP00000444149:I537T;ENSP00000438665:I488T;ENSP00000266509:I537T;ENSP00000370964:I537T;ENSP00000444527:I419T	ENSP00000266509:I537T	I	+	2	0	SLCO1C1	20784446	0.997000	0.39634	0.880000	0.34516	0.978000	0.69477	1.371000	0.34250	0.374000	0.24650	0.460000	0.39030	ATA		0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		18	72	0	0	0	0	18	72				
PDZRN4	29951	broad.mit.edu	37	12	41966994	41966994	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:41966994G>T	ENST00000402685.2	+	10	2421	c.2413G>T	c.(2413-2415)Gaa>Taa	p.E805*	PDZRN4_ENST00000298919.7_Nonsense_Mutation_p.E545*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E547*	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	805							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGTAGCGCTGAAAGCAAGGA	0.517																																						uc010skn.1		NA																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1816-1818)GAA>TAA		PDZ domain containing RING finger 4 isoform 2							151.0	153.0	152.0					12																	41966994		2203	4300	6503	SO:0001587	stop_gained	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966994G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2413G>T	12.37:g.41966994G>T	ENSP00000384197:p.Glu805*					PDZRN4_uc001rmq.3_Nonsense_Mutation_p.E547*|PDZRN4_uc009zjz.2_Nonsense_Mutation_p.E545*|PDZRN4_uc001rmr.2_Nonsense_Mutation_p.E432*	p.E606*	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1884	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	805					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Nonsense_Mutation	SNP	ENST00000402685.2	37	c.1816G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	38	7.055581	0.98032	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	.	.	.	5.34	5.34	0.76211	.	1.317180	0.05237	N	0.511531	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-17.8391	19.939	0.97151	0.0:0.0:1.0:0.0	.	.	.	.	X	805;547;545	.	ENSP00000298919:E545X	E	+	1	0	PDZRN4	40253261	0.991000	0.36638	0.771000	0.31576	0.468000	0.32798	4.449000	0.60034	2.890000	0.99128	0.650000	0.86243	GAA		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		42	124	1	0	4.16e-14	5.78e-14	42	124				
COL2A1	1280	broad.mit.edu	37	12	48368576	48368576	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48368576G>C	ENST00000380518.3	-	52	4120	c.3956C>G	c.(3955-3957)aCt>aGt	p.T1319S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.T1250S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1319	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGTCTCGCCAGTCTCCATGTT	0.547																																						uc001rqu.2		NA																	0				ovary(1)|skin(1)	2						c.(3955-3957)ACT>AGT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						140.0	131.0	134.0					12																	48368576		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48368576G>C	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3956C>G	12.37:g.48368576G>C	ENSP00000369889:p.Thr1319Ser					COL2A1_uc001rqt.2_Missense_Mutation_p.T100S|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.T1250S	p.T1319S	NM_001844	NP_001835	P02458	CO2A1_HUMAN			52	4137	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1319			Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.3956C>G	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305213	0.60305	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.73258	-0.73;-0.73	4.93	4.93	0.64822	Fibrillar collagen, C-terminal (3);	0.060289	0.64402	D	0.000005	T	0.68805	0.3041	L	0.54323	1.7	0.80722	D	1	B;B	0.16802	0.015;0.019	B;B	0.17098	0.007;0.017	T	0.67413	-0.5677	10	0.59425	D	0.04	.	18.095	0.89487	0.0:0.0:1.0:0.0	.	1250;1319	P02458-1;P02458	.;CO2A1_HUMAN	S	1319;1250;1250	ENSP00000369889:T1319S;ENSP00000338213:T1250S	ENSP00000338213:T1250S	T	-	2	0	COL2A1	46654843	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	7.902000	0.87389	2.444000	0.82710	0.561000	0.74099	ACT		0.547	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		36	123	0	0	0	0	36	123				
COL2A1	1280	broad.mit.edu	37	12	48389061	48389061	+	Missense_Mutation	SNP	G	G	C	rs377490073		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48389061G>C	ENST00000380518.3	-	11	903	c.739C>G	c.(739-741)Ccc>Gcc	p.P247A	COL2A1_ENST00000337299.6_Missense_Mutation_p.P178A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	247	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P178S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTTCCAGGGGGACCAGGAGGA	0.502																																						uc001rqu.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)|skin(1)	2						c.(739-741)CCC>GCC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						106.0	108.0	107.0					12																	48389061		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48389061G>C	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.739C>G	12.37:g.48389061G>C	ENSP00000369889:p.Pro247Ala					COL2A1_uc001rqv.2_Missense_Mutation_p.P178A	p.P247A	NM_001844	NP_001835	P02458	CO2A1_HUMAN			11	920	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	247			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.739C>G	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798949	0.50208	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.96745	-4.11;-4.11	4.51	3.61	0.41365	.	0.065165	0.64402	D	0.000008	D	0.93973	0.8070	L	0.47078	1.49	0.52501	D	0.999957	B;B	0.24823	0.054;0.112	B;B	0.30572	0.051;0.117	D	0.92506	0.6012	10	0.54805	T	0.06	.	12.1752	0.54182	0.0861:0.0:0.9139:0.0	.	178;247	P02458-1;P02458	.;CO2A1_HUMAN	A	247;178;178	ENSP00000369889:P247A;ENSP00000338213:P178A	ENSP00000338213:P178A	P	-	1	0	COL2A1	46675328	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.426000	0.73374	1.492000	0.48499	0.655000	0.94253	CCC		0.502	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		19	112	0	0	0	0	19	112				
ASB8	140461	broad.mit.edu	37	12	48543741	48543741	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:48543741T>C	ENST00000317697.3	-	4	444	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.Y92C|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000536071.1_3'UTR|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	92					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CTCTGCTGCATAGTGGAGGGC	0.498																																						uc001rrh.2		NA																	0				kidney(1)	1						c.(274-276)TAT>TGT		ankyrin repeat and SOCS box-containing 8							67.0	62.0	63.0					12																	48543741		2203	4300	6503	SO:0001583	missense	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543741T>C	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.275A>G	12.37:g.48543741T>C	ENSP00000320893:p.Tyr92Cys					ASB8_uc010slr.1_Missense_Mutation_p.Y88C	p.Y92C	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			4	444	-			92			ANK 2.		A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.275A>G	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747035	0.69418	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549;ENST00000539503;ENST00000545791;ENST00000540212	D;D;T;T;T	0.83250	-1.7;-1.7;-0.13;-0.18;-0.18	5.3	5.3	0.74995	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.86736	0.6004	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86599	0.1865	10	0.42905	T	0.14	-12.6272	15.2239	0.73336	0.0:0.0:0.0:1.0	.	92	Q9H765	ASB8_HUMAN	C	92	ENSP00000320893:Y92C;ENSP00000445622:Y92C;ENSP00000444093:Y92C;ENSP00000437769:Y92C;ENSP00000442639:Y92C	ENSP00000320893:Y92C	Y	-	2	0	ASB8	46830008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.430000	0.80321	2.140000	0.66376	0.460000	0.39030	TAT		0.498	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			22	50	0	0	0	0	22	50				
CSAD	51380	broad.mit.edu	37	12	53563908	53563908	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:53563908C>T	ENST00000444623.1	-	10	917	c.650G>A	c.(649-651)gGg>gAg	p.G217E	CSAD_ENST00000267085.4_Missense_Mutation_p.G244E|CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000379843.3_Missense_Mutation_p.G70E|CSAD_ENST00000453446.2_Missense_Mutation_p.G217E|CSAD_ENST00000379846.1_Missense_Mutation_p.G70E	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	217					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GACCATTTTCCCTCTGAAAAA	0.522																																					Ovarian(109;252 1546 16882 28524 44645)	uc001sby.2		NA																	0				ovary(1)	1						c.(649-651)GGG>GAG		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						63.0	58.0	60.0					12																	53563908		2203	4300	6503	SO:0001583	missense	51380	Hereditary_Prostate_Cancer			carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53563908C>T	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.650G>A	12.37:g.53563908C>T	ENSP00000415485:p.Gly217Glu					CSAD_uc001sbw.2_Missense_Mutation_p.G70E|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.G244E|CSAD_uc001sbz.2_Missense_Mutation_p.G217E|CSAD_uc009zmu.2_Missense_Mutation_p.G70E|CSAD_uc001sca.3_RNA	p.G217E	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN			9	776	-			217					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	c.650G>A	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755220|4.755220	0.89843|0.89843	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000548698|ENST00000544139;ENST00000454442	T;T;T;T;T;T|.	0.49139|.	0.79;0.79;0.79;0.79;0.79;0.79|.	4.65|4.65	4.65|4.65	0.58169|0.58169	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87997|0.87997	0.6319|0.6319	H|H	0.96805|0.96805	3.885|3.885	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.91575|0.91575	0.5274|0.5274	10|6	0.87932|.	D|.	0|.	-34.9729|-34.9729	17.5122|17.5122	0.87763|0.87763	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	244;217;70|.	Q9Y600-3;Q9Y600;Q9Y600-2|.	.;CSAD_HUMAN;.|.	E|R	306;70;244;70;217;178;217;70|235;161	ENSP00000369172:G70E;ENSP00000267085:G244E;ENSP00000369175:G70E;ENSP00000415485:G217E;ENSP00000410648:G217E;ENSP00000449373:G70E|.	ENSP00000267085:G244E|.	G|G	-|-	2|1	0|0	CSAD|CSAD	51850175|51850175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	5.972000|5.972000	0.70448|0.70448	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GGG|GGA		0.522	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		20	49	0	0	0	0	20	49				
OR10A7	121364	broad.mit.edu	37	12	55615713	55615713	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:55615713A>G	ENST00000326258.1	+	1	905	c.905A>G	c.(904-906)aAg>aGg	p.K302R		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGGGCTGTCAAGAGGACAATC	0.428																																						uc010spf.1		NA																	0				ovary(4)	4						c.(904-906)AAG>AGG		olfactory receptor, family 10, subfamily A,							76.0	63.0	67.0					12																	55615713		2203	4299	6502	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615713A>G	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.905A>G	12.37:g.55615713A>G	ENSP00000326718:p.Lys302Arg						p.K302R	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	905	+			302			Cytoplasmic (Potential).		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.905A>G	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	a	0.070	-1.205014	0.01568	.	.	ENSG00000179919	ENST00000326258	T	0.38077	1.16	3.45	2.32	0.28847	.	0.000000	0.40908	D	0.000993	T	0.13670	0.0331	N	0.10837	0.055	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.31971	-0.9924	10	0.02654	T	1	.	6.5271	0.22307	0.8767:0.0:0.1233:0.0	.	302	Q8NGE5	O10A7_HUMAN	R	302	ENSP00000326718:K302R	ENSP00000326718:K302R	K	+	2	0	OR10A7	53901980	0.000000	0.05858	0.031000	0.17742	0.086000	0.17979	-0.393000	0.07305	1.586000	0.49944	0.443000	0.29094	AAG		0.428	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			5	35	0	0	0	0	5	35				
NAV3	89795	broad.mit.edu	37	12	78444708	78444708	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:78444708G>C	ENST00000397909.2	+	11	2470	c.2297G>C	c.(2296-2298)aGt>aCt	p.S766T	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Missense_Mutation_p.S766T|NAV3_ENST00000266692.7_Missense_Mutation_p.S766T|NAV3_ENST00000228327.6_Missense_Mutation_p.S766T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	766						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S766I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATCCTCGCAGTGGTACCAGT	0.587										HNSCC(70;0.22)																												uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2296-2298)AGT>ACT		neuron navigator 3							68.0	70.0	69.0					12																	78444708		2061	4201	6262	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444708G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2297G>C	12.37:g.78444708G>C	ENSP00000381007:p.Ser766Thr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S766T|NAV3_uc010sub.1_Missense_Mutation_p.S266T	p.S766T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			11	2470	+			766					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2297G>C		.	.	.	.	.	.	.	.	.	.	G	12.78	2.041246	0.35989	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.79	5.79	0.91817	.	0.000000	0.47852	U	0.000217	T	0.13200	0.0320	L	0.34521	1.04	0.80722	D	1	B;P;B	0.35328	0.354;0.495;0.013	B;B;B	0.31946	0.138;0.119;0.004	T	0.09773	-1.0659	10	0.25106	T	0.35	-18.034	13.2603	0.60101	0.0724:0.0:0.9276:0.0	.	766;766;766	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	T	766	ENSP00000446132:S766T;ENSP00000381007:S766T;ENSP00000228327:S766T;ENSP00000266692:S766T	ENSP00000228327:S766T	S	+	2	0	NAV3	76968839	1.000000	0.71417	0.932000	0.37286	0.399000	0.30720	4.480000	0.60243	2.735000	0.93741	0.655000	0.94253	AGT		0.587	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	32	0	0	0	0	7	32				
PLXNC1	10154	broad.mit.edu	37	12	94603380	94603380	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:94603380G>A	ENST00000258526.4	+	5	1703	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	485					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTTTTCAAGGAGATTGTGTA	0.388																																						uc001tdc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1453-1455)GGA>GAA		plexin C1 precursor							187.0	192.0	190.0					12																	94603380		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94603380G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1454G>A	12.37:g.94603380G>A	ENSP00000258526:p.Gly485Glu						p.G485E	NM_005761	NP_005752	O60486	PLXC1_HUMAN			5	1703	+			485			Extracellular (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1454G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	0.158	-1.083814	0.01888	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.16196	2.36;2.36	5.79	-1.74	0.08056	.	1.232780	0.05469	N	0.552641	T	0.05090	0.0136	N	0.03903	-0.33	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52079	-0.8623	10	0.02654	T	1	.	1.8276	0.03124	0.4571:0.1339:0.275:0.134	.	485	O60486	PLXC1_HUMAN	E	485;101	ENSP00000258526:G485E;ENSP00000447843:G101E	ENSP00000258526:G485E	G	+	2	0	PLXNC1	93127511	0.997000	0.39634	0.990000	0.47175	0.465000	0.32709	0.178000	0.16820	-0.201000	0.10284	-0.868000	0.02995	GGA		0.388	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			36	149	0	0	0	0	36	149				
PLXNC1	10154	broad.mit.edu	37	12	94641821	94641821	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:94641821C>G	ENST00000258526.4	+	13	2780	c.2531C>G	c.(2530-2532)cCc>cGc	p.P844R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	844					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CGGGAGGACCCCAGATTCACG	0.493																																						uc001tdc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2530-2532)CCC>CGC		plexin C1 precursor							88.0	81.0	83.0					12																	94641821		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641821C>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2531C>G	12.37:g.94641821C>G	ENSP00000258526:p.Pro844Arg						p.P844R	NM_005761	NP_005752	O60486	PLXC1_HUMAN			13	2780	+			844			Extracellular (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2531C>G	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950121	0.53186	.	.	ENSG00000136040	ENST00000258526	T	0.19250	2.16	6.16	6.16	0.99307	Cell surface receptor IPT/TIG (1);	0.058423	0.64402	D	0.000001	T	0.46737	0.1408	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24297	-1.0164	10	0.87932	D	0	.	18.0158	0.89239	0.0:1.0:0.0:0.0	.	844	O60486	PLXC1_HUMAN	R	844	ENSP00000258526:P844R	ENSP00000258526:P844R	P	+	2	0	PLXNC1	93165952	0.997000	0.39634	0.998000	0.56505	0.085000	0.17905	4.389000	0.59639	2.937000	0.99478	0.650000	0.86243	CCC		0.493	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			19	58	0	0	0	0	19	58				
ACTR6	64431	broad.mit.edu	37	12	100599500	100599500	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:100599500T>A	ENST00000188312.2	+	3	998	c.233T>A	c.(232-234)cTt>cAt	p.L78H	ACTR6_ENST00000550813.1_3'UTR|ACTR6_ENST00000551617.1_5'UTR|ACTR6_ENST00000546902.1_5'UTR|ACTR6_ENST00000552376.1_Missense_Mutation_p.L78H	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	78						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TGGGATTACCTTTTTGGAAAA	0.234																																						uc001thb.1		NA																	0				ovary(1)	1						c.(232-234)CTT>CAT		ARP6 actin-related protein 6 homolog							57.0	62.0	60.0					12																	100599500		2198	4270	6468	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100599500T>A	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.233T>A	12.37:g.100599500T>A	ENSP00000188312:p.Leu78His					ACTR6_uc010svh.1_Missense_Mutation_p.L78H|ACTR6_uc001thc.1_5'UTR|ACTR6_uc001thd.1_Missense_Mutation_p.L78H|ACTR6_uc009ztu.1_5'UTR|ACTR6_uc001the.1_5'UTR|ACTR6_uc001thf.1_5'UTR|uc001thg.1_Intron	p.L78H	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN			3	289	+			78					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.233T>A	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299184	0.81025	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000552376	D;D;D	0.97480	-4.4;-4.4;-4.4	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.79693	2.465	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70487	0.969;0.912;0.947	D	0.99289	1.0898	10	0.72032	D	0.01	.	15.3487	0.74363	0.0:0.0:0.0:1.0	.	78;78;78	B4DLG9;F8W057;Q9GZN1	.;.;ARP6_HUMAN	H	90;78;78	ENSP00000448508:L90H;ENSP00000188312:L78H;ENSP00000447237:L78H	ENSP00000188312:L78H	L	+	2	0	ACTR6	99123631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.790000	0.85794	2.029000	0.59856	0.459000	0.35465	CTT		0.234	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		9	23	0	0	0	0	9	23				
PAH	5053	broad.mit.edu	37	12	103232972	103232972	+	Missense_Mutation	SNP	G	G	A	rs76542238		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:103232972G>A	ENST00000553106.1	-	13	1812	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	PAH_ENST00000307000.2_Missense_Mutation_p.A442V	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	447			A -> D (in PKU).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCTGGAGGGCACTGCAAAG	0.398																																						uc001tjq.1		NA																	0				ovary(4)	4	GRCh37	CM961086	PAH	M	rs76542238	c.(1339-1341)GCC>GTC		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						85.0	83.0	84.0					12																	103232972		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103232972G>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1340C>T	12.37:g.103232972G>A	ENSP00000448059:p.Ala447Val						p.A447V	NM_000277	NP_000268	P00439	PH4H_HUMAN			14	1812	-			447		A -> D (in PKU).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.1340C>T	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920180	0.92249	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99760	-6.66;-6.66	5.31	5.31	0.75309	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	M	0.88775	2.98	0.80722	D	1	P	0.51653	0.947	P	0.48704	0.587	D	0.98383	1.0559	10	0.66056	D	0.02	-19.7086	18.1044	0.89516	0.0:0.0:1.0:0.0	.	447	P00439	PH4H_HUMAN	V	447;442	ENSP00000448059:A447V;ENSP00000303500:A442V	ENSP00000303500:A442V	A	-	2	0	PAH	101757102	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	6.878000	0.75567	2.645000	0.89757	0.585000	0.79938	GCC		0.398	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			12	34	0	0	0	0	12	34				
CUX2	23316	broad.mit.edu	37	12	111655724	111655724	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:111655724A>T	ENST00000261726.6	+	3	359	c.205A>T	c.(205-207)Aaa>Taa	p.K69*	CUX2_ENST00000551604.2_3'UTR	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	69					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCTGTATTAAAAAGCTTCCA	0.567																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(205-207)AAA>TAA		cut-like 2							78.0	84.0	82.0					12																	111655724		1881	4103	5984	SO:0001587	stop_gained	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111655724A>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.205A>T	12.37:g.111655724A>T	ENSP00000261726:p.Lys69*					CUX2_uc001tsb.1_Nonsense_Mutation_p.K124*	p.K69*	NM_015267	NP_056082	O14529	CUX2_HUMAN			3	358	+			69					A7E2Y4	Nonsense_Mutation	SNP	ENST00000261726.6	37	c.205A>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	A	40	7.989053	0.98596	.	.	ENSG00000111249	ENST00000261726;ENST00000397643;ENST00000552889	.	.	.	5.3	5.3	0.74995	.	0.396573	0.25349	N	0.031303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7985	14.5312	0.67926	1.0:0.0:0.0:0.0	.	.	.	.	X	69;129;7	.	ENSP00000261726:K69X	K	+	1	0	CUX2	110140107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.843000	0.86859	2.131000	0.65755	0.533000	0.62120	AAA		0.567	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		28	84	0	0	0	0	28	84				
CUX2	23316	broad.mit.edu	37	12	111758214	111758214	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:111758214G>T	ENST00000261726.6	+	17	2555	c.2401G>T	c.(2401-2403)Gcc>Tcc	p.A801S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	801					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCCCCTACGCCTCCGTGTC	0.721																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(2401-2403)GCC>TCC		cut-like 2							22.0	28.0	26.0					12																	111758214		1971	4025	5996	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758214G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2401G>T	12.37:g.111758214G>T	ENSP00000261726:p.Ala801Ser						p.A801S	NM_015267	NP_056082	O14529	CUX2_HUMAN			17	2554	+			801					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2401G>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339677	0.24339	.	.	ENSG00000111249	ENST00000261726	T	0.42900	0.96	4.25	0.634	0.17718	.	0.595546	0.17000	N	0.190932	T	0.23171	0.0560	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14980	-1.0453	10	0.15499	T	0.54	-3.5269	2.9729	0.05928	0.4984:0.2459:0.2557:0.0	.	801	O14529	CUX2_HUMAN	S	801	ENSP00000261726:A801S	ENSP00000261726:A801S	A	+	1	0	CUX2	110242597	1.000000	0.71417	0.781000	0.31783	0.867000	0.49689	3.480000	0.53172	0.248000	0.21435	0.306000	0.20318	GCC		0.721	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		20	55	1	0	6.21e-17	8.89e-17	20	55				
SRRM4	84530	broad.mit.edu	37	12	119583342	119583342	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:119583342G>A	ENST00000267260.4	+	9	1316	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	310	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGGAGAAGGGGAGCCCCAG	0.622																																						uc001txa.1		NA																	0				ovary(2)	2						c.(928-930)GGG>AGG		KIAA1853 protein							28.0	34.0	32.0					12																	119583342		1953	4152	6105	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583342G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.928G>A	12.37:g.119583342G>A	ENSP00000267260:p.Gly310Arg						p.G310R	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			9	1220	+			310			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.928G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	8.062	0.768419	0.15983	.	.	ENSG00000139767	ENST00000267260	T	0.22134	1.97	5.08	4.17	0.49024	.	0.352617	0.32015	N	0.006715	T	0.12220	0.0297	L	0.27053	0.805	0.09310	N	0.999997	B	0.09022	0.002	B	0.09377	0.004	T	0.13791	-1.0496	9	.	.	.	-11.6482	6.413	0.21702	0.0789:0.1237:0.6551:0.1423	.	310	A7MD48	SRRM4_HUMAN	R	310	ENSP00000267260:G310R	.	G	+	1	0	SRRM4	118067725	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.693000	0.54735	2.518000	0.84900	0.655000	0.94253	GGG		0.622	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		4	28	0	0	0	0	4	28				
SRRM4	84530	broad.mit.edu	37	12	119592088	119592088	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:119592088C>A	ENST00000267260.4	+	12	1820	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	478	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTCGCAGCAGCGGGAGCGCGA	0.662																																						uc001txa.1		NA																	0				ovary(2)	2						c.(1432-1434)CGG>AGG		KIAA1853 protein							13.0	18.0	16.0					12																	119592088		1857	4088	5945	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592088C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1432C>A	12.37:g.119592088C>A							p.R478R	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			12	1724	+			478			Ser-rich.|Arg-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.1432C>A	CCDS44994.1																																																																																				0.662	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		3	17	1	0	0.004672	0.00506539	3	17				
VPS37B	79720	broad.mit.edu	37	12	123352007	123352007	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:123352007C>T	ENST00000267202.2	-	4	895	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	172	Pro-rich.|VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGGGCCAGGGCCTGTGGGAGT	0.642																																						uc001udl.2		NA																	0					0						c.(514-516)GCC>ACC		vacuolar protein sorting 37B							88.0	94.0	92.0					12																	123352007		2203	4300	6503	SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123352007C>T	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.514G>A	12.37:g.123352007C>T	ENSP00000267202:p.Ala172Thr						p.A172T	NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	617	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		172			VPS37 C-terminal.|Pro-rich.			Missense_Mutation	SNP	ENST00000267202.2	37	c.514G>A	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339543	0.41398	.	.	ENSG00000139722	ENST00000267202;ENST00000535765;ENST00000371248	T;T;T	0.78816	0.46;0.46;-1.21	5.18	5.18	0.71444	Modifier of rudimentary, Modr (1);	0.225081	0.44483	D	0.000449	T	0.63307	0.2500	N	0.22421	0.69	0.58432	D	0.999997	P	0.36282	0.546	B	0.29267	0.1	T	0.62859	-0.6765	10	0.13853	T	0.58	-3.1722	18.6936	0.91592	0.0:1.0:0.0:0.0	.	172	Q9H9H4	VP37B_HUMAN	T	172;170;170	ENSP00000267202:A172T;ENSP00000446075:A170T;ENSP00000360294:A170T	ENSP00000267202:A172T	A	-	1	0	VPS37B	121917960	0.997000	0.39634	0.701000	0.30321	0.162000	0.22319	3.608000	0.54109	2.403000	0.81681	0.609000	0.83330	GCC		0.642	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		35	110	0	0	0	0	35	110				
NCOR2	9612	broad.mit.edu	37	12	124846676	124846676	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:124846676C>G	ENST00000405201.1	-	22	3096	c.3096G>C	c.(3094-3096)aaG>aaC	p.K1032N	NCOR2_ENST00000356219.3_Missense_Mutation_p.K1031N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K1015N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K1014N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K1014N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K585N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1032					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACTCACCCTCCTTGTCGGCGG	0.682																																						uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(3094-3096)AAG>AAC		nuclear receptor co-repressor 2 isoform 2							7.0	9.0	8.0					12																	124846676		1901	4067	5968	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124846676C>G	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3096G>C	12.37:g.124846676C>G	ENSP00000384018:p.Lys1032Asn					NCOR2_uc010tay.1_Missense_Mutation_p.K1031N|NCOR2_uc010taz.1_Missense_Mutation_p.K1015N|NCOR2_uc010tbb.1_Missense_Mutation_p.K1032N|NCOR2_uc010tbc.1_Missense_Mutation_p.K1014N|NCOR2_uc001ugj.1_Missense_Mutation_p.K1032N	p.K1032N	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	22	3213	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1032					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.3096G>C	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967518	0.18659	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.35605	2.09;2.34;2.08;2.34;2.08;2.35;1.3	4.91	2.03	0.26663	.	0.448615	0.21964	U	0.066554	T	0.40743	0.1129	L	0.40543	1.245	0.35168	D	0.771314	P;D;P	0.69078	0.915;0.997;0.949	B;P;P	0.60789	0.366;0.879;0.57	T	0.50415	-0.8831	10	0.62326	D	0.03	-30.9611	5.9343	0.19156	0.0:0.5817:0.0:0.4183	.	1014;1015;1032	C9J0Q5;C9J239;C9JFD3	.;.;.	N	1032;1014;1031;1015;1031;585;1014;1032	ENSP00000384018:K1032N;ENSP00000384202:K1014N;ENSP00000348551:K1031N;ENSP00000380513:K1015N;ENSP00000385618:K585N;ENSP00000400281:K1014N;ENSP00000402808:K1032N	ENSP00000348551:K1031N	K	-	3	2	NCOR2	123412629	1.000000	0.71417	0.999000	0.59377	0.060000	0.15804	0.460000	0.21924	0.473000	0.27368	0.462000	0.41574	AAG		0.682	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		5	11	0	0	0	0	5	11				
NCOR2	9612	broad.mit.edu	37	12	124862866	124862866	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:124862866G>A	ENST00000405201.1	-	18	2084	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V	NCOR2_ENST00000356219.3_Missense_Mutation_p.A695V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A695V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A694V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A694V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A265V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	695					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCGGGAATGCAGCCTCCTC	0.667																																						uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(2083-2085)GCA>GTA		nuclear receptor co-repressor 2 isoform 2							58.0	68.0	65.0					12																	124862866		2058	4188	6246	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124862866G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2084C>T	12.37:g.124862866G>A	ENSP00000384018:p.Ala695Val					NCOR2_uc010tay.1_Missense_Mutation_p.A695V|NCOR2_uc010taz.1_Missense_Mutation_p.A695V|NCOR2_uc010tbb.1_Missense_Mutation_p.A695V|NCOR2_uc010tbc.1_Missense_Mutation_p.A694V|NCOR2_uc001ugj.1_Missense_Mutation_p.A695V	p.A695V	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	18	2201	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		695					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2084C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287692	0.23478	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000448614	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.39	4.39	0.52855	.	0.238443	0.42821	D	0.000641	T	0.36413	0.0966	L	0.29908	0.895	0.31161	N	0.704363	B;B;B	0.22414	0.012;0.041;0.069	B;B;B	0.27715	0.023;0.037;0.082	T	0.46911	-0.9157	10	0.59425	D	0.04	-29.1038	17.3179	0.87228	0.0:0.0:1.0:0.0	.	694;695;695	C9J0Q5;C9J239;C9JFD3	.;.;.	V	695;694;695;695;695;265;694;695;85	ENSP00000384018:A695V;ENSP00000384202:A694V;ENSP00000348551:A695V;ENSP00000380513:A695V;ENSP00000385618:A265V;ENSP00000400281:A694V;ENSP00000402808:A695V;ENSP00000408247:A85V	ENSP00000348551:A695V	A	-	2	0	NCOR2	123428819	0.979000	0.34478	0.969000	0.41365	0.016000	0.09150	4.318000	0.59190	2.154000	0.67381	0.462000	0.41574	GCA		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		12	39	0	0	0	0	12	39				
TMEM132B	114795	broad.mit.edu	37	12	125834477	125834477	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:125834477G>T	ENST00000299308.3	+	2	540	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	178						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCGGCTGCAAGGGGCCCCAGG	0.622																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(532-534)GGG>TGG		transmembrane protein 132B							51.0	55.0	54.0					12																	125834477		2015	4204	6219	SO:0001583	missense	114795					integral to membrane		g.chr12:125834477G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.532G>T	12.37:g.125834477G>T	ENSP00000299308:p.Gly178Trp						p.G178W	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	540	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		178			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.532G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058737	0.76074	.	.	ENSG00000139364	ENST00000299308	T	0.48836	0.8	5.34	5.34	0.76211	.	.	.	.	.	T	0.69006	0.3063	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71938	-0.4441	9	0.87932	D	0	.	19.0585	0.93076	0.0:0.0:1.0:0.0	.	178	Q14DG7	T132B_HUMAN	W	178	ENSP00000299308:G178W	ENSP00000299308:G178W	G	+	1	0	TMEM132B	124400430	1.000000	0.71417	0.460000	0.27093	0.924000	0.55760	6.374000	0.73132	2.488000	0.83962	0.655000	0.94253	GGG		0.622	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		28	79	1	0	8.58e-18	1.24e-17	28	79				
RNF6	6049	broad.mit.edu	37	13	26789615	26789615	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:26789615C>T	ENST00000381588.4	-	5	1156	c.404G>A	c.(403-405)aGa>aAa	p.R135K	RNF6_ENST00000346166.3_Missense_Mutation_p.R135K|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000381570.3_Missense_Mutation_p.R135K|RNF6_ENST00000399762.2_Missense_Mutation_p.E14K	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	135					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ACTCACAGCTCTCCAAGTTTG	0.408																																						uc001uqo.2		NA																	0				ovary(1)|skin(1)	2						c.(403-405)AGA>AAA		ring finger protein 6							109.0	87.0	94.0					13																	26789615		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26789615C>T	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.404G>A	13.37:g.26789615C>T	ENSP00000371000:p.Arg135Lys					RNF6_uc001uqn.1_Missense_Mutation_p.R135K|RNF6_uc010aak.2_Missense_Mutation_p.R135K|RNF6_uc001uqp.2_Missense_Mutation_p.R135K|RNF6_uc001uqq.2_Missense_Mutation_p.R135K|RNF6_uc010tdk.1_Missense_Mutation_p.E14K	p.R135K	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	695	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	135					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.404G>A	CCDS9316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.327380|5.327380	0.95708|0.95708	.|.	.|.	ENSG00000127870|ENSG00000127870	ENST00000399762|ENST00000346166;ENST00000381588;ENST00000381570	T|T;T;T	0.14766|0.09630	2.48|2.96;2.96;2.96	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.129330	.|0.49916	.|D	.|0.000126	T|T	0.34308|0.34308	0.0893|0.0893	M|M	0.75777|0.75777	2.31|2.31	0.34288|0.34288	D|D	0.682965|0.682965	B|D;D	0.27559|0.76494	0.181|0.999;0.996	B|D;D	0.22880|0.78314	0.042|0.991;0.987	T|T	0.51880|0.51880	-0.8649|-0.8649	8|10	.|0.87932	.|D	.|0	-15.4844|-15.4844	17.3581|17.3581	0.87342|0.87342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	14|135;135	B4DDP0|Q9Y252;Q9BZP5	.|RNF6_HUMAN;.	K|K	14|135	ENSP00000382665:E14K|ENSP00000342121:R135K;ENSP00000371000:R135K;ENSP00000370982:R135K	.|ENSP00000342121:R135K	E|R	-|-	1|2	0|0	RNF6|RNF6	25687615|25687615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.617000|5.617000	0.67716|0.67716	2.330000|2.330000	0.79161|0.79161	0.557000|0.557000	0.71058|0.71058	GAG|AGA		0.408	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		20	34	0	0	0	0	20	34				
LNX2	222484	broad.mit.edu	37	13	28155627	28155627	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:28155627T>G	ENST00000316334.3	-	2	343	c.214A>C	c.(214-216)Aag>Cag	p.K72Q		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	72					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CTGAGGCACTTGTAGCAGAAT	0.413																																						uc001url.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6						c.(214-216)AAG>CAG		ligand of numb-protein X 2							100.0	95.0	97.0					13																	28155627		2203	4300	6503	SO:0001583	missense	222484						zinc ion binding	g.chr13:28155627T>G	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.214A>C	13.37:g.28155627T>G	ENSP00000325929:p.Lys72Gln					LNX2_uc001urm.1_Missense_Mutation_p.K72Q	p.K72Q	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	2	523	-		Lung SC(185;0.0156)	72			RING-type.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.214A>C	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377058	0.42105	.	.	ENSG00000139517	ENST00000316334	D	0.86956	-2.19	6.06	6.06	0.98353	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.051101	0.85682	D	0.000000	T	0.76371	0.3978	N	0.05351	-0.065	0.40987	D	0.984826	B	0.25667	0.131	B	0.25759	0.063	T	0.73199	-0.4058	10	0.24483	T	0.36	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	72	Q8N448	LNX2_HUMAN	Q	72	ENSP00000325929:K72Q	ENSP00000325929:K72Q	K	-	1	0	LNX2	27053627	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.914000	0.63348	2.324000	0.78689	0.533000	0.62120	AAG		0.413	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			24	28	0	0	0	0	24	28				
AKAP11	11215	broad.mit.edu	37	13	42874719	42874719	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:42874719A>G	ENST00000025301.2	+	8	2012	c.1837A>G	c.(1837-1839)Agt>Ggt	p.S613G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	613					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACGTGCCATTAGTGGCCTGGC	0.388																																						uc001uys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1837-1839)AGT>GGT		A-kinase anchor protein 11							80.0	76.0	77.0					13																	42874719		2202	4300	6502	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874719A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1837A>G	13.37:g.42874719A>G	ENSP00000025301:p.Ser613Gly						p.S613G	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2012	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	613					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.1837A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	9.892	1.204581	0.22205	.	.	ENSG00000023516	ENST00000025301	T	0.14640	2.49	5.94	0.284	0.15701	.	0.291697	0.36034	N	0.002835	T	0.07413	0.0187	N	0.20685	0.6	0.26071	N	0.981221	B	0.09022	0.002	B	0.08055	0.003	T	0.37526	-0.9702	10	0.20046	T	0.44	.	9.6993	0.40175	0.708:0.0:0.292:0.0	.	613	Q9UKA4	AKA11_HUMAN	G	613	ENSP00000025301:S613G	ENSP00000025301:S613G	S	+	1	0	AKAP11	41772719	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	1.813000	0.38962	-0.149000	0.11215	0.397000	0.26171	AGT		0.388	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		11	30	0	0	0	0	11	30				
DIAPH3	81624	broad.mit.edu	37	13	60616954	60616954	+	Splice_Site	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:60616954C>T	ENST00000400324.4	-	5	716	c.496G>A	c.(496-498)Gga>Aga	p.G166R	DIAPH3_ENST00000400320.1_Splice_Site_p.G120R|DIAPH3_ENST00000377908.2_Splice_Site_p.G155R|DIAPH3_ENST00000400319.1_Splice_Site_p.G96R|DIAPH3_ENST00000400330.1_Splice_Site_p.G166R|DIAPH3_ENST00000267215.4_Splice_Site_p.G166R|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	166	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTAAGACTTCCCTATAAAATA	0.378																																						uc001vht.2		NA																	0				ovary(2)	2						c.(496-498)GGA>AGA		diaphanous homolog 3 isoform a							69.0	65.0	66.0					13																	60616954		1813	4069	5882	SO:0001630	splice_region_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60616954C>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.496-1G>A	13.37:g.60616954C>T						DIAPH3_uc001vhw.1_Missense_Mutation_p.G155R|DIAPH3_uc010aed.1_Missense_Mutation_p.G120R|DIAPH3_uc010aee.1_Missense_Mutation_p.G96R|uc001vhx.2_Intron	p.G166R	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	5	715	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	166			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.496G>A	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735150	0.48939	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;T;D	0.89050	-2.46;-2.46;-2.46;-2.46;-1.41;-2.46	5.51	4.66	0.58398	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.057957	0.64402	N	0.000002	D	0.89511	0.6736	M	0.81682	2.555	0.52501	D	0.99995	B;B;B;B	0.32467	0.134;0.372;0.372;0.008	B;B;B;B	0.35278	0.093;0.199;0.199;0.015	D	0.88934	0.3375	10	0.62326	D	0.03	.	13.0561	0.58982	0.0:0.9214:0.0:0.0786	.	96;120;155;166	A8MYX0;C9JL55;C9JDG1;Q9NSV4	.;.;.;DIAP3_HUMAN	R	166;166;155;120;96;155;96;120;166;166	ENSP00000383178:G166R;ENSP00000383184:G166R;ENSP00000367141:G155R;ENSP00000383173:G96R;ENSP00000383174:G120R;ENSP00000267215:G166R	ENSP00000267215:G166R	G	-	1	0	DIAPH3	59514955	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	5.226000	0.65299	1.326000	0.45319	0.585000	0.79938	GGA		0.378	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	Missense_Mutation	8	21	0	0	0	0	8	21				
DACH1	1602	broad.mit.edu	37	13	72063214	72063214	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:72063214C>T	ENST00000359684.2	-	8	1798	c.1799G>A	c.(1798-1800)gGa>gAa	p.G600E	DACH1_ENST00000313174.7_Missense_Mutation_p.G400E|DACH1_ENST00000305425.4_Missense_Mutation_p.G548E|DACH1_ENST00000354591.4_Missense_Mutation_p.G346E			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	600					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGTGGTTGTCCATGCCCAGT	0.448																																						uc010thn.1		NA																	0				breast(1)	1						c.(1636-1638)GGA>GAA		dachshund homolog 1 isoform a							219.0	220.0	220.0					13																	72063214		1917	4132	6049	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72063214C>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1799G>A	13.37:g.72063214C>T	ENSP00000352712:p.Gly600Glu					DACH1_uc010tho.1_Missense_Mutation_p.G398E|DACH1_uc010thp.1_Missense_Mutation_p.G344E	p.G546E	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	8	2060	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	598					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1637G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.005738	0.74932	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.38560	1.33;1.46;1.13;1.29	5.11	5.11	0.69529	.	0.112267	0.64402	D	0.000011	T	0.62245	0.2412	L	0.55990	1.75	0.34296	D	0.683805	D;D;D	0.89917	1.0;1.0;0.982	D;D;P	0.91635	0.998;0.999;0.843	T	0.72037	-0.4411	10	0.87932	D	0	-8.5637	18.8885	0.92389	0.0:1.0:0.0:0.0	.	344;398;546	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	E	548;400;346;600;600	ENSP00000304994:G548E;ENSP00000318506:G400E;ENSP00000346604:G346E;ENSP00000352712:G600E	ENSP00000304994:G548E	G	-	2	0	DACH1	70961215	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.072000	0.64389	2.544000	0.85801	0.563000	0.77884	GGA		0.448	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		55	104	0	0	0	0	55	104				
MYCBP2	23077	broad.mit.edu	37	13	77672447	77672447	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:77672447C>A	ENST00000544440.2	-	56	8745	c.8728G>T	c.(8728-8730)Gac>Tac	p.D2910Y	MYCBP2_ENST00000360084.5_Missense_Mutation_p.D433Y|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2910Y|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D2948Y|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAGGTGCTGTCTGTTAGACTA	0.423																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(8728-8730)GAC>TAC		MYC binding protein 2							125.0	123.0	123.0					13																	77672447		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672447C>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8728G>T	13.37:g.77672447C>A	ENSP00000444596:p.Asp2910Tyr					MYCBP2_uc010aev.2_Missense_Mutation_p.D2314Y|MYCBP2_uc001vkg.1_Missense_Mutation_p.D433Y|MYCBP2_uc010aew.2_Missense_Mutation_p.D296Y	p.D2910Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	57	8819	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2910						Missense_Mutation	SNP	ENST00000544440.2	37	c.8728G>T		.	.	.	.	.	.	.	.	.	.	C	16.27	3.076608	0.55753	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.56103	1.43;1.43;1.43;0.48	5.05	5.05	0.67936	.	0.049347	0.85682	D	0.000000	T	0.66626	0.2808	L	0.51422	1.61	0.80722	D	1	D;D;P	0.67145	0.996;0.969;0.948	D;P;P	0.63381	0.914;0.875;0.67	T	0.68465	-0.5401	10	0.59425	D	0.04	.	18.7715	0.91893	0.0:1.0:0.0:0.0	.	296;2910;2910	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	Y	2910;2948;2910;433	ENSP00000349892:D2910Y;ENSP00000384288:D2948Y;ENSP00000444596:D2910Y;ENSP00000353197:D433Y	ENSP00000349892:D2910Y	D	-	1	0	MYCBP2	76570448	1.000000	0.71417	0.990000	0.47175	0.854000	0.48673	7.395000	0.79876	2.506000	0.84524	0.591000	0.81541	GAC		0.423	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		35	68	1	0	4.66e-17	6.67e-17	35	68				
SLITRK1	114798	broad.mit.edu	37	13	84453670	84453670	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:84453670G>T	ENST00000377084.2	-	1	2858	c.1973C>A	c.(1972-1974)gCg>gAg	p.A658E		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	658					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AATCTCGGACGCGGAGGAGTT	0.552																																						uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1972-1974)GCG>GAG		slit and trk like 1 protein precursor							77.0	68.0	71.0					13																	84453670		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84453670G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1973C>A	13.37:g.84453670G>T	ENSP00000366288:p.Ala658Glu						p.A658E	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2859	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	658			Cytoplasmic (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1973C>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935935	0.73442	.	.	ENSG00000178235	ENST00000377084	T	0.56941	0.43	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	N	0.08118	0	0.80722	D	1	P	0.47962	0.903	B	0.39379	0.298	T	0.25222	-1.0138	10	0.34782	T	0.22	-12.1738	17.3561	0.87336	0.0:0.0:1.0:0.0	.	658	Q96PX8	SLIK1_HUMAN	E	658	ENSP00000366288:A658E	ENSP00000366288:A658E	A	-	2	0	SLITRK1	83351671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.336000	0.96533	2.756000	0.94617	0.655000	0.94253	GCG		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		20	24	1	0	1.4e-16	2e-16	20	24				
SLC10A2	6555	broad.mit.edu	37	13	103701711	103701711	+	Missense_Mutation	SNP	G	G	C	rs144946104		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:103701711G>C	ENST00000245312.3	-	5	1443	c.847C>G	c.(847-849)Ctc>Gtc	p.L283V		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	283					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	ACGACATTGAGCTCCTCAGGA	0.473																																						uc001vpy.3		NA																	0				ovary(3)|skin(1)	4						c.(847-849)CTC>GTC		solute carrier family 10 (sodium/bile acid							185.0	148.0	160.0					13																	103701711		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103701711G>C	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.847C>G	13.37:g.103701711G>C	ENSP00000245312:p.Leu283Val						p.L283V	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			5	1444	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		283			Extracellular (Potential).		A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.847C>G	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576797	0.28092	.	.	ENSG00000125255	ENST00000245312	T	0.09723	2.95	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	L	0.60067	1.865	0.44685	D	0.997678	B	0.21520	0.057	B	0.26864	0.074	T	0.02226	-1.1192	10	0.33141	T	0.24	-12.0799	14.3626	0.66782	0.0706:0.0:0.9294:0.0	.	283	Q12908	NTCP2_HUMAN	V	283	ENSP00000245312:L283V	ENSP00000245312:L283V	L	-	1	0	SLC10A2	102499712	1.000000	0.71417	0.897000	0.35233	0.024000	0.10985	5.677000	0.68142	2.840000	0.97914	0.655000	0.94253	CTC		0.473	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			34	21	0	0	0	0	34	21				
CUL4A	8451	broad.mit.edu	37	13	113887572	113887572	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:113887572G>A	ENST00000375440.4	+	6	678	c.594G>A	c.(592-594)ctG>ctA	p.L198L	CUL4A_ENST00000375441.3_Silent_p.L98L|CUL4A_ENST00000326335.4_Silent_p.L98L|CUL4A_ENST00000451881.1_Silent_p.L98L	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	198					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GAATCCTACTGCTGATCGAGC	0.512																																						uc010tjy.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(592-594)CTG>CTA		cullin 4A isoform 1							88.0	85.0	86.0					13																	113887572		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113887572G>A	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.594G>A	13.37:g.113887572G>A						CUL4A_uc010tjx.1_Silent_p.L98L|CUL4A_uc010agu.2_Silent_p.L59L|CUL4A_uc001vtl.1_5'Flank	p.L198L	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		7	605	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	198					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.594G>A	CCDS41908.1																																																																																				0.512	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		43	38	0	0	0	0	43	38				
POTEG	404785	broad.mit.edu	37	14	19563520	19563520	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:19563520C>T	ENST00000409832.3	+	5	1086	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	345										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGAGTATGCTGTTTCTAGT	0.353																																						uc001vuz.1		NA																	0				ovary(1)	1						c.(1033-1035)GCT>GTT		POTE ankyrin domain family, member G							57.0	94.0	82.0					14																	19563520		1147	2465	3612	SO:0001583	missense	404785							g.chr14:19563520C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1034C>T	14.37:g.19563520C>T	ENSP00000386971:p.Ala345Val					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA	p.A345V	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			5	1086	+			345					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1034C>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	12.45	1.940238	0.34283	.	.	ENSG00000222036	ENST00000409832	D	0.81739	-1.53	1.09	1.09	0.20402	Ankyrin repeat-containing domain (4);	0.222293	0.21916	U	0.067229	D	0.89581	0.6756	M	0.93550	3.43	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78437	-0.2204	10	0.87932	D	0	.	5.6033	0.17365	0.0:1.0:0.0:0.0	.	345	Q6S5H5	POTEG_HUMAN	V	345	ENSP00000386971:A345V	ENSP00000386971:A345V	A	+	2	0	POTEG	18633520	0.953000	0.32496	0.017000	0.16124	0.062000	0.15995	2.282000	0.43461	0.912000	0.36772	0.184000	0.17185	GCT		0.353	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		45	161	0	0	0	0	45	161				
OR10G2	26534	broad.mit.edu	37	14	22102184	22102184	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:22102184G>T	ENST00000542433.1	-	1	912	c.815C>A	c.(814-816)cCc>cAc	p.P272H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P272N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCATCCAGGGGGTCTTTGGA	0.542																																						uc010tmc.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(814-816)CCC>CAC		olfactory receptor, family 10, subfamily G,							48.0	51.0	50.0					14																	22102184		2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102184G>T		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.815C>A	14.37:g.22102184G>T	ENSP00000445383:p.Pro272His						p.P272H	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	815	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	272			Extracellular (Potential).		B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.815C>A	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353346	0.41700	.	.	ENSG00000255582	ENST00000542433	T	0.00069	8.77	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.378693	0.19293	N	0.117840	T	0.00271	0.0008	L	0.47716	1.5	0.24359	N	0.994886	P	0.52463	0.953	P	0.55785	0.784	T	0.56854	-0.7910	10	0.87932	D	0	-7.9378	11.2967	0.49282	0.0:0.0:1.0:0.0	.	272	Q8NGC3	O10G2_HUMAN	H	272	ENSP00000445383:P272H	ENSP00000445383:P272H	P	-	2	0	OR10G2	21172024	0.012000	0.17670	0.995000	0.50966	0.544000	0.35116	1.957000	0.40392	2.027000	0.59764	0.557000	0.71058	CCC		0.542	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			22	62	1	0	2.38e-13	3.28e-13	22	62				
EFS	10278	broad.mit.edu	37	14	23826521	23826521	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:23826521C>A	ENST00000216733.3	-	6	2207	c.1600G>T	c.(1600-1602)Gcc>Tcc	p.A534S	EFS_ENST00000351354.3_Missense_Mutation_p.A441S|EFS_ENST00000429593.2_Missense_Mutation_p.A365S|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	534					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TCTTGGATGGCAGGGCTGGAT	0.612																																						uc001wjo.2		NA																	0				large_intestine(1)	1						c.(1600-1602)GCC>TCC		embryonal Fyn-associated substrate isoform 1							59.0	58.0	58.0					14																	23826521		2203	4300	6503	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23826521C>A	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1600G>T	14.37:g.23826521C>A	ENSP00000216733:p.Ala534Ser					EFS_uc001wjp.2_Missense_Mutation_p.A441S|EFS_uc010tnm.1_Missense_Mutation_p.A365S	p.A534S	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	6	2208	-	all_cancers(95;7.12e-06)		534					B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1600G>T	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549527	0.45383	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.56103	0.48;0.48;0.48	4.49	3.6	0.41247	CAS family, DUF3513 (1);	0.127122	0.52532	D	0.000080	T	0.62146	0.2404	L	0.60012	1.86	0.54753	D	0.999981	P;P;D	0.56968	0.951;0.787;0.978	P;B;P	0.56916	0.794;0.326;0.809	T	0.64132	-0.6479	10	0.49607	T	0.09	-2.2563	13.4584	0.61212	0.0:0.8411:0.1589:0.0	.	365;441;534	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	S	534;441;365	ENSP00000216733:A534S;ENSP00000340607:A441S;ENSP00000416684:A365S	ENSP00000216733:A534S	A	-	1	0	EFS	22896361	0.999000	0.42202	0.041000	0.18516	0.507000	0.33981	4.082000	0.57635	1.089000	0.41292	0.655000	0.94253	GCC		0.612	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			4	101	1	0	0.00909568	0.00976828	4	101				
HEATR5A	25938	broad.mit.edu	37	14	31852842	31852842	+	Missense_Mutation	SNP	C	C	T	rs191890003		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:31852842C>T	ENST00000389961.3	-	9	1462	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	HEATR5A_ENST00000543095.2_Missense_Mutation_p.R494Q|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R488Q|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R494Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R201Q			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	488										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCAGTAAGCCGTTCAAGGCA	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.0					uc001wrf.3		NA																	0				ovary(1)	1						c.(601-603)CGG>CAG		HEAT repeat containing 5A							195.0	183.0	187.0					14																	31852842		1970	4180	6150	SO:0001583	missense	25938						binding	g.chr14:31852842C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1463G>A	14.37:g.31852842C>T	ENSP00000374611:p.Arg488Gln					HEATR5A_uc010ami.2_Missense_Mutation_p.R99Q|HEATR5A_uc001wrg.1_Missense_Mutation_p.R83Q|HEATR5A_uc010tpk.1_Missense_Mutation_p.R494Q	p.R201Q	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	4	679	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		488					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.602G>A		1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	20.1|20.1	3.940868|3.940868	0.73557|0.73557	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.64991	.|-0.13;-0.13;-0.13;-0.13;-0.13	5.89|5.89	5.0|5.0	0.66597|0.66597	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66934|0.66934	0.2840|0.2840	M|M	0.70595|0.70595	2.14|2.14	0.51482|0.51482	D|D	0.99992|0.99992	.|D;D;B	.|0.58620	.|0.976;0.983;0.164	.|P;P;B	.|0.46796	.|0.518;0.527;0.057	T|T	0.70680|0.70680	-0.4805|-0.4805	5|10	.|0.48119	.|T	.|0.1	.|.	15.1489|15.1489	0.72681|0.72681	0.0:0.9323:0.0:0.0677|0.0:0.9323:0.0:0.0677	.|.	.|494;488;488	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	S|Q	122|488;488;201;494;494	.|ENSP00000374611:R488Q;ENSP00000405407:R488Q;ENSP00000408681:R201Q;ENSP00000437968:R494Q;ENSP00000384646:R494Q	.|ENSP00000374611:R488Q	G|R	-|-	1|2	0|0	HEATR5A|HEATR5A	30922593|30922593	0.774000|0.774000	0.28592|0.28592	0.983000|0.983000	0.44433|0.44433	0.937000|0.937000	0.57800|0.57800	3.888000|3.888000	0.56204|0.56204	1.499000|1.499000	0.48617|0.48617	0.557000|0.557000	0.71058|0.71058	GGC|CGG		0.473	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		55	113	0	0	0	0	55	113				
NPAS3	64067	broad.mit.edu	37	14	34269279	34269279	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:34269279C>T	ENST00000356141.4	+	12	1766	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	NPAS3_ENST00000357798.5_Missense_Mutation_p.A576V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A594V|NPAS3_ENST00000346562.2_Missense_Mutation_p.A557V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A559V			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	589					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCAGGCGAGGCGGGCGCGCAG	0.687																																						uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(1765-1767)GCG>GTG		neuronal PAS domain protein 3 isoform 3							12.0	12.0	12.0					14																	34269279		2189	4292	6481	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269279C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1766C>T	14.37:g.34269279C>T	ENSP00000348460:p.Ala589Val					NPAS3_uc001wrs.2_Missense_Mutation_p.A576V|NPAS3_uc001wrt.2_Missense_Mutation_p.A557V|NPAS3_uc001wrv.2_Missense_Mutation_p.A559V	p.A589V	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	1830	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		589					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.1766C>T	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502361	0.26949	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.72505	-0.66;3.44;3.44;3.44;3.43;3.3	5.13	4.23	0.50019	.	0.452151	0.22239	N	0.062710	T	0.47303	0.1438	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.32745	-0.9895	10	0.27785	T	0.31	.	8.6502	0.34029	0.0:0.6244:0.2918:0.0838	.	559;589;557;576	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	V	563;594;557;559;589;576	ENSP00000448373:A563V;ENSP00000450392:A594V;ENSP00000319610:A557V;ENSP00000448916:A559V;ENSP00000348460:A589V;ENSP00000350446:A576V	ENSP00000319610:A557V	A	+	2	0	NPAS3	33339030	1.000000	0.71417	0.999000	0.59377	0.389000	0.30415	0.784000	0.26816	1.126000	0.42016	0.555000	0.69702	GCG		0.687	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			5	17	0	0	0	0	5	17				
KCNH5	27133	broad.mit.edu	37	14	63453789	63453789	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:63453789C>A	ENST00000322893.7	-	5	818		c.e5+1		KCNH5_ENST00000394968.1_Splice_Site|KCNH5_ENST00000394964.2_Splice_Site|KCNH5_ENST00000420622.2_Splice_Site	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5						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)		CTCATACTTACTTCAGCTAGT	0.378																																						uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.e5+1		potassium voltage-gated channel, subfamily H,							122.0	108.0	113.0					14																	63453789		2203	4300	6503	SO:0001630	splice_region_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63453789C>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.549+1G>T	14.37:g.63453789C>A						KCNH5_uc001xfy.2_Splice_Site_p.E183_splice|KCNH5_uc001xfz.1_Splice_Site_p.E125_splice|KCNH5_uc001xga.2_Splice_Site_p.E125_splice	p.E183_splice	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	600	-								C9JP98	Splice_Site	SNP	ENST00000322893.7	37	c.549_splice	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643628	0.87859	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNH5	62523542	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.773000	0.85462	2.697000	0.92050	0.563000	0.77884	.		0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	Intron	27	66	1	0	7.68e-24	1.13e-23	27	66				
FNTB	2342	broad.mit.edu	37	14	65511158	65511158	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:65511158C>G	ENST00000246166.2	+	9	1186	c.952C>G	c.(952-954)Caa>Gaa	p.Q318E	MAX_ENST00000341653.2_Intron|MIR4706_ENST00000582134.1_RNA|FNTB_ENST00000447296.2_Missense_Mutation_p.Q352E|FNTB_ENST00000542227.1_Missense_Mutation_p.Q272E|CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.Q353E	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	318					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACTGCACGCCCAAGGTGAGCC	0.592																																						uc001xia.2		NA																	0				ovary(1)	1						c.(952-954)CAA>GAA		farnesyltransferase, CAAX box, beta							64.0	65.0	65.0					14																	65511158		2203	4300	6503	SO:0001583	missense	2342				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity	g.chr14:65511158C>G		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.952C>G	14.37:g.65511158C>G	ENSP00000246166:p.Gln318Glu					FNTB_uc010tsl.1_Missense_Mutation_p.Q352E|FNTB_uc010tsm.1_Missense_Mutation_p.Q272E|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.Q74E|FNTB_uc010tso.1_Missense_Mutation_p.Q233E	p.Q318E	NM_002028	NP_002019	P49356	FNTB_HUMAN		all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	9	1117	+			318					B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	c.952C>G	CCDS9769.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244013	0.22796	.	.	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000448390;ENST00000246166	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.47	5.47	0.80525	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.052356	0.85682	D	0.000000	T	0.15696	0.0378	N	0.02960	-0.455	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.21793	-1.0235	10	0.02654	T	1	-14.9562	9.3471	0.38115	0.1604:0.6848:0.1548:0.0	.	321;272;352;318	Q86TX8;B4E1A0;B4DL54;P49356	.;.;.;FNTB_HUMAN	E	272;353;352;74;318	ENSP00000443140:Q272E;ENSP00000447121:Q353E;ENSP00000406393:Q352E;ENSP00000399362:Q74E;ENSP00000246166:Q318E	ENSP00000246166:Q318E	Q	+	1	0	FNTB;AL139022.1	64580911	0.992000	0.36948	0.996000	0.52242	0.890000	0.51754	2.293000	0.43558	2.849000	0.98006	0.609000	0.83330	CAA		0.592	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		28	96	0	0	0	0	28	96				
SLC10A1	6554	broad.mit.edu	37	14	70263521	70263521	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:70263521G>A	ENST00000216540.4	-	1	485	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	118					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	GCCTACCTGAGGTTCATGTCC	0.547																																						uc001xlr.2		NA																	0				ovary(1)	1						c.(352-354)CTC>TTC		solute carrier family 10, member 1							58.0	51.0	54.0					14																	70263521		2203	4300	6503	SO:0001583	missense	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70263521G>A	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.352C>T	14.37:g.70263521G>A	ENSP00000216540:p.Leu118Phe						p.L118F	NM_003049	NP_003040	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	1	486	-			118					B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	c.352C>T	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681761	0.88542	.	.	ENSG00000100652	ENST00000216540	T	0.20463	2.07	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.61033	-0.7144	10	0.62326	D	0.03	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	118	Q14973	NTCP_HUMAN	F	118	ENSP00000216540:L118F	ENSP00000216540:L118F	L	-	1	0	SLC10A1	69333274	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.589000	0.98235	2.606000	0.88127	0.511000	0.50034	CTC		0.547	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			10	24	0	0	0	0	10	24				
MED6	10001	broad.mit.edu	37	14	71058033	71058034	+	Missense_Mutation	DNP	CC	CC	TA	rs149635535		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:71058033_71058034CC>TA	ENST00000256379.5	-	6	560_561	c.531_532GG>TA	c.(529-534)gtGGat>gtTAat	p.D178N	MED6_ENST00000430055.2_Missense_Mutation_p.D185N|MED6_ENST00000554963.1_Missense_Mutation_p.D178N|MED6_ENST00000556044.1_5'UTR|MED6_ENST00000440435.2_Intron|CTD-2540L5.5_ENST00000553982.1_lincRNA	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	178					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AGTAAAGCATCCACACGTTGTC	0.351																																						uc001xmf.2		NA																	0					0						c.(529-534)GTGGAT>GTTAAT		mediator of RNA polymerase II transcription,																																				SO:0001583	missense	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71058033_71058034CC>TA	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.531_532delinsTA	14.37:g.71058033_71058034delinsTA	ENSP00000256379:p.Asp178Asn					MED6_uc010tth.1_Missense_Mutation_p.D185N|MED6_uc010tti.1_Intron	p.D178N	NM_005466	NP_005457	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	6	561_562	-			178					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Missense_Mutation	DNP	ENST00000256379.5	37	c.531_532GG>TA	CCDS9805.1																																																																																				0.351	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		14	39	0	0	0	0	14	39				
FBLN5	10516	broad.mit.edu	37	14	92349360	92349360	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:92349360C>G	ENST00000342058.4	-	8	1393	c.800G>C	c.(799-801)gGc>gCc	p.G267A	FBLN5_ENST00000267620.10_Missense_Mutation_p.G308A|FBLN5_ENST00000556154.1_Missense_Mutation_p.G272A	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	267	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GAAGTATGTGCCGGGCTGGTT	0.567																																						uc001xzx.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(799-801)GGC>GCC		fibulin 5 precursor							137.0	118.0	125.0					14																	92349360		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92349360C>G	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.800G>C	14.37:g.92349360C>G	ENSP00000345008:p.Gly267Ala					FBLN5_uc010aud.2_Missense_Mutation_p.G272A|FBLN5_uc010aue.2_Missense_Mutation_p.G308A	p.G267A	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			8	1273	-		all_cancers(154;0.0722)	267			EGF-like 5; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.800G>C	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928045	0.92389	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.97186	-4.28;-2.69;-4.28	5.1	5.1	0.69264	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99036	0.9670	H	0.96365	3.81	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.996;0.992	D	0.99353	1.0915	10	0.87932	D	0	.	18.8968	0.92426	0.0:1.0:0.0:0.0	.	308;272;267	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	A	308;267;272	ENSP00000267620:G308A;ENSP00000345008:G267A;ENSP00000451982:G272A	ENSP00000267620:G364A	G	-	2	0	FBLN5	91419113	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	7.776000	0.85560	2.536000	0.85505	0.561000	0.74099	GGC		0.567	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			23	74	0	0	0	0	23	74				
SYNE3	161176	broad.mit.edu	37	14	95942074	95942074	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:95942074C>G	ENST00000334258.5	-	1	99	c.85G>C	c.(85-87)Gtc>Ctc	p.V29L	SYNE3_ENST00000553340.1_Missense_Mutation_p.V29L|SYNE3_ENST00000557275.1_Missense_Mutation_p.V29L	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	29					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TTGTCATTGACCTGCAGCTGG	0.652																																						uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(85-87)GTC>CTC		nesprin-3							59.0	42.0	48.0					14																	95942074		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95942074C>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.85G>C	14.37:g.95942074C>G	ENSP00000334308:p.Val29Leu					C14orf49_uc010avi.2_Missense_Mutation_p.V29L|C14orf49_uc001yej.1_Missense_Mutation_p.V29L	p.V29L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	1	100	-		all_cancers(154;0.0937)	29			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.85G>C	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271863	0.40194	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.09911	3.52;3.5;2.93	5.56	-7.75	0.01236	.	1.619830	0.04257	N	0.339654	T	0.09423	0.0232	L	0.44542	1.39	0.22354	N	0.999174	B;B;B	0.25850	0.136;0.136;0.083	B;B;B	0.30251	0.113;0.113;0.053	T	0.29027	-1.0025	10	0.28530	T	0.3	-4.81	8.7434	0.34571	0.0:0.2216:0.2019:0.5765	.	29;29;29	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	L	29	ENSP00000334308:V29L;ENSP00000450562:V29L;ENSP00000450774:V29L	ENSP00000334308:V29L	V	-	1	0	C14orf49	95011827	0.025000	0.19082	0.297000	0.24988	0.622000	0.37654	-0.771000	0.04699	-1.454000	0.01926	0.462000	0.41574	GTC		0.652	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		5	16	0	0	0	0	5	16				
WDR25	79446	broad.mit.edu	37	14	100934422	100934422	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:100934422G>C	ENST00000335290.6	+	3	1113	c.887G>C	c.(886-888)cGg>cCg	p.R296P	WDR25_ENST00000542471.2_Missense_Mutation_p.R39P|WDR25_ENST00000402312.3_Missense_Mutation_p.R296P|WDR25_ENST00000554998.1_Missense_Mutation_p.R296P	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	296										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GAGGCAGTGCGGGCCGCCCGG	0.617																																						uc010avx.2		NA																	0					0						c.(886-888)CGG>CCG		WD repeat domain 25							106.0	107.0	106.0					14																	100934422		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100934422G>C	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.887G>C	14.37:g.100934422G>C	ENSP00000334148:p.Arg296Pro					WDR25_uc001yhm.2_Missense_Mutation_p.R288P|WDR25_uc001yhn.2_Missense_Mutation_p.R296P|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Missense_Mutation_p.R39P	p.R296P	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN			3	980	+		Melanoma(154;0.212)	296			WD 2.		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.887G>C	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569358	0.65765	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000542471	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000020	T	0.81945	0.4930	M	0.87900	2.915	0.40935	D	0.984421	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.961	D	0.85839	0.1396	10	0.72032	D	0.01	-25.4224	17.4083	0.87479	0.0:0.0:1.0:0.0	.	39;296	Q64LD2-2;Q64LD2	.;WDR25_HUMAN	P	296;296;296;39	ENSP00000450661:R296P;ENSP00000385540:R296P;ENSP00000334148:R296P;ENSP00000441903:R39P	ENSP00000334148:R296P	R	+	2	0	WDR25	100004175	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	7.514000	0.81750	2.485000	0.83878	0.650000	0.86243	CGG		0.617	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		37	125	0	0	0	0	37	125				
KIF26A	26153	broad.mit.edu	37	14	104640109	104640109	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:104640109C>T	ENST00000423312.2	+	10	1934	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V	KIF26A_ENST00000315264.7_Missense_Mutation_p.A506V	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	645	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTGGCAGGGCCGGGGAGGCT	0.667																																						uc001yos.3		NA																	0				pancreas(1)	1						c.(1933-1935)GCC>GTC		kinesin family member 26A							16.0	25.0	22.0					14																	104640109		1943	4110	6053	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104640109C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1934C>T	14.37:g.104640109C>T	ENSP00000388241:p.Ala645Val						p.A645V	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	10	1934	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	645			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.1934C>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704861	0.30232	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.75477	-0.94;-0.94	4.55	-2.19	0.07015	Kinesin, motor domain (5);	.	.	.	.	T	0.57446	0.2054	L	0.31804	0.96	0.19300	N	0.99998	B	0.16396	0.017	B	0.19391	0.025	T	0.41822	-0.9487	9	0.27785	T	0.31	.	7.3838	0.26870	0.0765:0.4273:0.3938:0.1025	.	645	Q9ULI4	KI26A_HUMAN	V	645;506	ENSP00000388241:A645V;ENSP00000325452:A506V	ENSP00000325452:A506V	A	+	2	0	KIF26A	103709862	0.989000	0.36119	0.000000	0.03702	0.010000	0.07245	1.923000	0.40055	-0.287000	0.09064	0.313000	0.20887	GCC		0.667	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			12	30	0	0	0	0	12	30				
MAGEL2	54551	broad.mit.edu	37	15	23889144	23889144	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:23889144C>A	ENST00000532292.1	-	1	2031	c.1937G>T	c.(1936-1938)cGc>cTc	p.R646L		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	529					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.R646H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACCTATTAGCGGGGAGGGGG	0.582																																						uc001ywj.3		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(1936-1938)CGC>CTC		MAGE-like protein 2							24.0	27.0	26.0					15																	23889144		1996	4164	6160	SO:0001583	missense	54551							g.chr15:23889144C>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1937G>T	15.37:g.23889144C>A	ENSP00000433433:p.Arg646Leu						p.R646L	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	2032	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1937G>T		.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114565	0.06881	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.28	-3.18	0.05186	.	.	.	.	.	T	0.28001	0.0690	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.32903	-0.9889	5	.	.	.	.	10.1383	0.42719	0.0:0.3279:0.0:0.6721	.	.	.	.	S	678	.	.	A	-	1	0	MAGEL2	21440237	0.020000	0.18652	0.028000	0.17463	0.029000	0.11900	-1.409000	0.02483	-0.677000	0.05231	-1.340000	0.01251	GCT		0.582	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		3	27	1	0	0.004672	0.00506539	3	27				
TJP1	7082	broad.mit.edu	37	15	30003139	30003139	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:30003139T>A	ENST00000346128.6	-	24	4742	c.4268A>T	c.(4267-4269)cAg>cTg	p.Q1423L	TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423L|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347L|TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1423					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGAGTGGCCTGGATGGGTTC	0.522																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(4267-4269)CAG>CTG		tight junction protein 1 isoform a							174.0	188.0	183.0					15																	30003139		2055	4205	6260	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003139T>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4268A>T	15.37:g.30003139T>A	ENSP00000281537:p.Gln1423Leu					TJP1_uc010azl.2_Missense_Mutation_p.Q1411L|TJP1_uc001zcq.2_Missense_Mutation_p.Q1347L|TJP1_uc001zcs.2_Missense_Mutation_p.Q1343L	p.Q1423L	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4743	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1423					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4268A>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.353977	0.41700	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.41065	1.01;1.01	5.62	4.48	0.54585	.	0.201017	0.47093	N	0.000248	T	0.54415	0.1857	L	0.54323	1.7	0.80722	D	1	P;P;P;D	0.53745	0.856;0.787;0.501;0.962	B;P;B;D	0.66716	0.432;0.447;0.154;0.946	T	0.53760	-0.8393	10	0.59425	D	0.04	.	8.06	0.30627	0.1171:0.0:0.1806:0.7022	.	1416;1343;1423;1347	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	L	1423;1347;1423;1343;1343	ENSP00000281537:Q1423L;ENSP00000382890:Q1347L	ENSP00000281537:Q1423L	Q	-	2	0	TJP1	27790431	1.000000	0.71417	0.635000	0.29338	0.411000	0.31082	2.950000	0.49081	0.924000	0.37069	0.533000	0.62120	CAG		0.522	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		74	163	0	0	0	0	74	163				
RYR3	6263	broad.mit.edu	37	15	34078040	34078040	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:34078040G>A	ENST00000389232.4	+	66	9516	c.9446G>A	c.(9445-9447)gGt>gAt	p.G3149D	RYR3_ENST00000415757.3_Missense_Mutation_p.G3149D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3149					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGAGCGGGGTCCTGAGAAC	0.572																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9445-9447)GGT>GAT		ryanodine receptor 3							151.0	169.0	163.0					15																	34078040		2159	4268	6427	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078040G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9446G>A	15.37:g.34078040G>A	ENSP00000373884:p.Gly3149Asp					RYR3_uc010bar.2_Missense_Mutation_p.G3149D	p.G3149D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9516	+		all_lung(180;7.18e-09)	3149					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9446G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894290	0.91889	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.66460	-0.21;-0.21	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.85239	0.5651	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.87522	0.2447	10	0.87932	D	0	.	19.1279	0.93393	0.0:0.0:1.0:0.0	.	3149;3149	Q15413-2;Q15413	.;RYR3_HUMAN	D	3149	ENSP00000373884:G3149D;ENSP00000399610:G3149D	ENSP00000354735:G3149D	G	+	2	0	RYR3	31865332	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	9.601000	0.98297	2.824000	0.97209	0.655000	0.94253	GGT		0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			76	186	0	0	0	0	76	186				
MAPKBP1	23005	broad.mit.edu	37	15	42113133	42113133	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:42113133C>T	ENST00000456763.2	+	24	2799	c.2603C>T	c.(2602-2604)tCc>tTc	p.S868F	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.S701F|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S745F|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S862F|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.S862F	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	868										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCGTTAGATCCATGCTGGAT	0.627																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(2602-2604)TCC>TTC		mitogen-activated protein kinase binding protein							56.0	52.0	53.0					15																	42113133		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42113133C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2603C>T	15.37:g.42113133C>T	ENSP00000393099:p.Ser868Phe					MAPKBP1_uc001zoj.3_Missense_Mutation_p.S862F|MAPKBP1_uc010bcj.2_Missense_Mutation_p.S369F|MAPKBP1_uc010bci.2_Missense_Mutation_p.S862F|MAPKBP1_uc010udb.1_Missense_Mutation_p.S701F|MAPKBP1_uc010bck.2_Missense_Mutation_p.S79F|MAPKBP1_uc010bcl.2_Missense_Mutation_p.S369F	p.S868F	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	24	2889	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	868					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.2603C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.085516	0.76642	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.54675	0.81;0.9;0.56;0.86;1.06	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.996;0.998;0.999	T	0.67991	-0.5527	10	0.87932	D	0	-19.4829	18.7328	0.91742	0.0:1.0:0.0:0.0	.	701;745;701;862;868;862	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	F	862;745;701;868;862	ENSP00000397570:S862F;ENSP00000221214:S745F;ENSP00000260357:S701F;ENSP00000393099:S868F;ENSP00000426154:S862F	ENSP00000221214:S745F	S	+	2	0	MAPKBP1	39900425	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	7.048000	0.76606	2.652000	0.90054	0.655000	0.94253	TCC		0.627	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		14	32	0	0	0	0	14	32				
SPG11	80208	broad.mit.edu	37	15	44921518	44921518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:44921518G>A	ENST00000261866.7	-	9	1820	c.1804C>T	c.(1804-1806)Caa>Taa	p.Q602*	SPG11_ENST00000559193.1_Nonsense_Mutation_p.Q602*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q602*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q602*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q602*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	602					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGTTTGCTTTGGGGTTCAGAA	0.358																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(1804-1806)CAA>TAA		spatacsin isoform 1							131.0	118.0	122.0					15																	44921518		2198	4298	6496	SO:0001587	stop_gained	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44921518G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1804C>T	15.37:g.44921518G>A	ENSP00000261866:p.Gln602*					SPG11_uc010ueh.1_Nonsense_Mutation_p.Q602*|SPG11_uc010uei.1_Nonsense_Mutation_p.Q602*|SPG11_uc001zua.1_Nonsense_Mutation_p.Q602*	p.Q602*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	9	1835	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	602			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	c.1804C>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	37	6.469431	0.97594	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.5978	0.88016	0.0:0.0:1.0:0.0	.	.	.	.	X	602	.	ENSP00000261866:Q602X	Q	-	1	0	SPG11	42708810	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.925000	0.87563	2.696000	0.92011	0.655000	0.94253	CAA		0.358	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			16	44	0	0	0	0	16	44				
SQRDL	58472	broad.mit.edu	37	15	45965859	45965859	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:45965859G>C	ENST00000260324.7	+	5	900	c.514G>C	c.(514-516)Gtt>Ctt	p.V172L	SQRDL_ENST00000568606.1_Missense_Mutation_p.V172L|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.V172L	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	172					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAATTATTCAGTTAAGACTGT	0.418																																						uc001zvt.2		NA																	0				ovary(1)	1						c.(514-516)GTT>CTT		sulfide dehydrogenase like precursor							142.0	144.0	143.0					15																	45965859		2198	4297	6495	SO:0001583	missense	58472						oxidoreductase activity	g.chr15:45965859G>C	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.514G>C	15.37:g.45965859G>C	ENSP00000260324:p.Val172Leu					SQRDL_uc001zvu.2_Missense_Mutation_p.V172L|SQRDL_uc001zvv.2_Missense_Mutation_p.V172L	p.V172L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	6	703	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	172					Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	c.514G>C	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821268	0.16678	.	.	ENSG00000137767	ENST00000260324	T	0.40225	1.04	5.62	4.67	0.58626	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.252202	0.41712	D	0.000837	T	0.28134	0.0694	N	0.17474	0.49	0.19775	N	0.99996	B	0.02656	0.0	B	0.08055	0.003	T	0.10613	-1.0622	10	0.32370	T	0.25	.	14.6544	0.68823	0.0:0.0:0.8542:0.1458	.	172	Q9Y6N5	SQRD_HUMAN	L	172	ENSP00000260324:V172L	ENSP00000260324:V172L	V	+	1	0	SQRDL	43753151	0.362000	0.24980	0.837000	0.33122	0.900000	0.52787	1.690000	0.37711	2.656000	0.90262	0.563000	0.77884	GTT		0.418	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			45	93	0	0	0	0	45	93				
SLC24A5	283652	broad.mit.edu	37	15	48429025	48429025	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:48429025C>T	ENST00000341459.3	+	6	809	c.736C>T	c.(736-738)Cca>Tca	p.P246S	SLC24A5_ENST00000449382.2_Missense_Mutation_p.P186S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	246					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGAACAACAGCCACTGATGGG	0.418																																						uc001zwe.2		NA																	0					0						c.(736-738)CCA>TCA		solute carrier family 24, member 5 precursor							75.0	75.0	75.0					15																	48429025		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48429025C>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.736C>T	15.37:g.48429025C>T	ENSP00000341550:p.Pro246Ser					SLC24A5_uc010bel.2_Missense_Mutation_p.P186S|uc001zwf.1_5'Flank	p.P246S	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	6	809	+		all_lung(180;0.00217)	246			Cytoplasmic (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.736C>T	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371708	0.24857	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.74632	-0.86;-0.86	5.42	2.35	0.29111	.	0.342400	0.34435	N	0.003980	T	0.62417	0.2426	L	0.59436	1.845	0.41863	D	0.990232	B;B	0.10296	0.003;0.003	B;B	0.11329	0.003;0.006	T	0.47787	-0.9090	10	0.08837	T	0.75	.	6.3125	0.21173	0.1631:0.6475:0.1185:0.0709	.	186;246	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	S	246;186	ENSP00000341550:P246S;ENSP00000389966:P186S	ENSP00000341550:P246S	P	+	1	0	SLC24A5	46216317	1.000000	0.71417	0.961000	0.40146	0.651000	0.38670	1.820000	0.39032	0.254000	0.21573	0.655000	0.94253	CCA		0.418	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		11	27	0	0	0	0	11	27				
UNC13C	440279	broad.mit.edu	37	15	54860126	54860126	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:54860126A>G	ENST00000260323.11	+	29	6087	c.6087A>G	c.(6085-6087)atA>atG	p.I2029M	UNC13C_ENST00000545554.1_Missense_Mutation_p.I2029M|UNC13C_ENST00000537900.1_Missense_Mutation_p.I2027M	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2029					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGAAATTCATAGATACTCAAA	0.328																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(6085-6087)ATA>ATG		unc-13 homolog C							55.0	51.0	52.0					15																	54860126		1799	4067	5866	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54860126A>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6087A>G	15.37:g.54860126A>G	ENSP00000260323:p.Ile2029Met						p.I2029M	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	28	6087	+			2029					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6087A>G	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112626	0.56398	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80123	-1.34;-1.34;-1.34	5.81	2.05	0.26809	.	0.089222	0.85682	D	0.000000	D	0.85729	0.5764	L	0.53249	1.67	0.39450	D	0.967382	D	0.67145	0.996	D	0.72075	0.976	D	0.85493	0.1186	10	0.72032	D	0.01	.	13.0622	0.59014	0.617:0.383:0.0:0.0	.	2029	Q8NB66	UN13C_HUMAN	M	2029;2029;2027	ENSP00000260323:I2029M;ENSP00000438156:I2029M;ENSP00000442569:I2027M	ENSP00000260323:I2029M	I	+	3	3	UNC13C	52647418	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.038000	0.30254	0.076000	0.16826	0.377000	0.23210	ATA		0.328	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		3	6	0	0	0	0	3	6				
MYZAP	100820829	broad.mit.edu	37	15	57953656	57953656	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:57953656A>G	ENST00000267853.5	+	11	1222	c.1128A>G	c.(1126-1128)tcA>tcG	p.S376S	GCOM1_ENST00000380561.2_Intron|MYZAP_ENST00000380565.4_Intron|GCOM1_ENST00000396180.1_Silent_p.S345S|GCOM1_ENST00000380560.2_Silent_p.S307S|GCOM1_ENST00000380569.2_Silent_p.S376S|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Silent_p.S376S|GCOM1_ENST00000572390.1_Intron|GCOM1_ENST00000574161.1_Silent_p.S376S|GCOM1_ENST00000587652.1_Silent_p.S376S			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	376					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											AGATTGAATCATTAAAGAAAA	0.318																																						uc002aei.2		NA																	0				ovary(1)	1						c.(1126-1128)TCA>TCG		GRINL1A upstream protein isoform 7							50.0	49.0	49.0					15																	57953656		2191	4291	6482	SO:0001819	synonymous_variant	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57953656A>G	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.1128A>G	15.37:g.57953656A>G						GCOM1_uc002aej.2_Intron|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Silent_p.S376S|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Silent_p.S376S|GCOM1_uc002aep.2_Intron|GCOM1_uc010bfx.2_RNA	p.S376S	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN			11	1247	+			376			Potential.		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Silent	SNP	ENST00000267853.5	37	c.1128A>G	CCDS10162.1																																																																																				0.318	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		6	24	0	0	0	0	6	24				
VPS13C	54832	broad.mit.edu	37	15	62302756	62302756	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:62302756G>A	ENST00000261517.5	-	13	999	c.926C>T	c.(925-927)cCt>cTt	p.P309L	VPS13C_ENST00000249837.3_Missense_Mutation_p.P266L|VPS13C_ENST00000395896.4_Missense_Mutation_p.P309L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P266L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTGCATAAGGATTCATGTA	0.373																																						uc002agz.2		NA																	0				ovary(2)	2						c.(925-927)CCT>CTT		vacuolar protein sorting 13C protein isoform 2A							201.0	182.0	188.0					15																	62302756		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62302756G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.926C>T	15.37:g.62302756G>A	ENSP00000261517:p.Pro309Leu					VPS13C_uc002aha.2_Missense_Mutation_p.P266L|VPS13C_uc002ahb.1_Missense_Mutation_p.P309L|VPS13C_uc002ahc.1_Missense_Mutation_p.P266L	p.P309L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			13	1000	-			309						Missense_Mutation	SNP	ENST00000261517.5	37	c.926C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358276	0.82243	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45276	0.9;0.9;1.06	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	M	0.84326	2.69	0.80722	D	1	P;D;P;P	0.56035	0.735;0.974;0.855;0.632	B;P;P;B	0.55871	0.36;0.786;0.46;0.271	T	0.70831	-0.4765	10	0.87932	D	0	.	18.9519	0.92644	0.0:0.0:1.0:0.0	.	266;309;266;309	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	266;309;309;309	ENSP00000249837:P266L;ENSP00000261517:P309L;ENSP00000379233:P309L	ENSP00000249837:P266L	P	-	2	0	VPS13C	60090048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.056000	0.89455	2.557000	0.86248	0.557000	0.71058	CCT		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		22	65	0	0	0	0	22	65				
KIAA0101	9768	broad.mit.edu	37	15	64673546	64673546	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:64673546C>T	ENST00000300035.4	-	1	163	c.25G>A	c.(25-27)Gtt>Att	p.V9I	KIAA0101_ENST00000558250.1_5'Flank|KIAA0101_ENST00000380258.2_Missense_Mutation_p.V9I|KIAA0101_ENST00000559519.1_Missense_Mutation_p.V9I|KIAA0101_ENST00000558008.1_Missense_Mutation_p.V9I	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	9					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GTGCCTGGAACACTGTCTGCT	0.592																																						uc002ank.2		NA																	0				central_nervous_system(1)	1						c.(25-27)GTT>ATT		hypothetical protein LOC9768 isoform 1							168.0	171.0	170.0					15																	64673546		2203	4300	6503	SO:0001583	missense	9768					mitochondrion|nucleus		g.chr15:64673546C>T	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.25G>A	15.37:g.64673546C>T	ENSP00000300035:p.Val9Ile					KIAA0101_uc002anl.2_Missense_Mutation_p.V9I	p.V9I	NM_014736	NP_055551	Q15004	PAF_HUMAN			1	157	-			9					A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	ENST00000300035.4	37	c.25G>A	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971251	0.53614	.	.	ENSG00000166803	ENST00000300035;ENST00000380258	T	0.47869	0.83	4.94	4.01	0.46588	.	0.310878	0.30347	N	0.009832	T	0.38026	0.1025	L	0.38175	1.15	0.80722	D	1	P;B	0.37207	0.587;0.3	B;B	0.36464	0.225;0.066	T	0.26538	-1.0100	10	0.41790	T	0.15	-28.5803	12.7302	0.57193	0.0:0.8344:0.1656:0.0	.	9;9	A6NNU5;Q15004	.;PAF_HUMAN	I	9	ENSP00000300035:V9I	ENSP00000300035:V9I	V	-	1	0	KIAA0101	62460599	0.962000	0.33011	0.250000	0.24296	0.985000	0.73830	1.495000	0.35627	1.418000	0.47098	0.561000	0.74099	GTT		0.592	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736		61	256	0	0	0	0	61	256				
ANKDD1A	348094	broad.mit.edu	37	15	65239631	65239631	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65239631C>A	ENST00000380230.3	+	13	1198	c.1169C>A	c.(1168-1170)cCc>cAc	p.P390H	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.P390H|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.P267H|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.P358H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	390					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGGACCACCCCAGTGATCCC	0.607																																						uc002aoa.2		NA																	0				ovary(1)	1						c.(1168-1170)CCC>CAC		ankyrin repeat and death domain containing 1A							43.0	42.0	43.0					15																	65239631		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65239631C>A		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1169C>A	15.37:g.65239631C>A	ENSP00000369579:p.Pro390His					ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.P267H	p.P390H	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			13	1198	+			390					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1169C>A	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	C	0.250	-1.006963	0.02112	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.38401	1.23;1.18;1.23;1.14	2.46	-0.769	0.11009	Ankyrin repeat-containing domain (1);	1.391060	0.04909	N	0.452748	T	0.20820	0.0501	L	0.38175	1.15	0.09310	N	1	P	0.38863	0.65	B	0.32393	0.145	T	0.09751	-1.0660	10	0.13108	T	0.6	-3.1561	2.7771	0.05350	0.1737:0.5306:0.1711:0.1246	.	390	Q495B1	AKD1A_HUMAN	H	390;358;390;267	ENSP00000369579:P390H;ENSP00000350329:P358H;ENSP00000379070:P390H;ENSP00000379073:P267H	ENSP00000350329:P358H	P	+	2	0	ANKDD1A	63026684	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	0.078000	0.14761	-0.515000	0.06479	-0.797000	0.03246	CCC		0.607	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		8	26	1	0	0.00307968	0.00337414	8	26				
IGDCC4	57722	broad.mit.edu	37	15	65676728	65676728	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65676728G>T	ENST00000352385.2	-	20	3581	c.3372C>A	c.(3370-3372)gcC>gcA	p.A1124A	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTTCCTGCAGGCTGGGGGTG	0.522																																						uc002aou.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3370-3372)GCC>GCA		immunoglobulin superfamily, DCC subclass, member							105.0	104.0	104.0					15																	65676728		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65676728G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3372C>A	15.37:g.65676728G>T						IGDCC4_uc002aot.1_Silent_p.A712A	p.A1124A	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			20	3582	-			1124			Cytoplasmic (Potential).		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.3372C>A	CCDS10206.1																																																																																				0.522	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		98	123	1	0	5.66e-50	8.63e-50	98	123				
SLC24A1	9187	broad.mit.edu	37	15	65916538	65916538	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:65916538C>T	ENST00000261892.6	+	2	407	c.120C>T	c.(118-120)caC>caT	p.H40H	SLC24A1_ENST00000339868.6_Silent_p.H40H|SLC24A1_ENST00000544319.2_Silent_p.H40H|SLC24A1_ENST00000537259.1_Silent_p.H40H|SLC24A1_ENST00000399033.4_Silent_p.H40H|SLC24A1_ENST00000546330.1_Silent_p.H40H	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	40					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTATCAGCACCTTAGGAGAC	0.532																																						uc010ujf.1		NA																	0					0						c.(118-120)CAC>CAT		solute carrier family 24							74.0	73.0	73.0					15																	65916538		1909	4118	6027	SO:0001819	synonymous_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65916538C>T	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.120C>T	15.37:g.65916538C>T						SLC24A1_uc010ujd.1_Silent_p.H40H|SLC24A1_uc010uje.1_Silent_p.H40H|SLC24A1_uc010ujg.1_Silent_p.H40H|SLC24A1_uc010ujh.1_Silent_p.H40H	p.H40H	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	407	+			40			Extracellular (Potential).		O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	c.120C>T	CCDS45284.1																																																																																				0.532	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		20	89	0	0	0	0	20	89				
TBC1D21	161514	broad.mit.edu	37	15	74178913	74178913	+	Missense_Mutation	SNP	G	G	T	rs202138564		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:74178913G>T	ENST00000300504.2	+	8	820	c.737G>T	c.(736-738)cGt>cTt	p.R246L	TBC1D21_ENST00000535547.2_Missense_Mutation_p.R210L|TBC1D21_ENST00000562056.1_Missense_Mutation_p.R209L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	246	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TGCTTCCAGCGTGCCTTCAAG	0.592																																						uc002avz.2		NA																	0				ovary(2)	2						c.(736-738)CGT>CTT		TBC1 domain family, member 21							164.0	120.0	135.0					15																	74178913		2198	4297	6495	SO:0001583	missense	161514					intracellular	Rab GTPase activator activity	g.chr15:74178913G>T	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.737G>T	15.37:g.74178913G>T	ENSP00000300504:p.Arg246Leu					TBC1D21_uc010ulc.1_Missense_Mutation_p.R210L	p.R246L	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN			8	820	+			246			Rab-GAP TBC.		B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	c.737G>T	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262614	0.39995	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.33865	1.39;1.39	5.15	1.14	0.20703	Rab-GAP/TBC domain (4);	0.128358	0.34828	N	0.003648	T	0.29061	0.0722	L	0.47190	1.495	0.09310	N	1	B;B	0.29612	0.251;0.251	B;B	0.34779	0.155;0.189	T	0.26018	-1.0115	10	0.87932	D	0	.	4.6609	0.12641	0.27:0.1593:0.5707:0.0	.	210;246	B9A6M2;Q8IYX1	.;TBC21_HUMAN	L	246;210	ENSP00000300504:R246L;ENSP00000439325:R210L	ENSP00000300504:R246L	R	+	2	0	TBC1D21	71965966	0.050000	0.20438	0.189000	0.23252	0.981000	0.71138	0.153000	0.16323	-0.030000	0.13804	-0.234000	0.12200	CGT		0.592	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		33	58	1	0	3.21e-22	4.72e-22	33	58				
CSK	1445	broad.mit.edu	37	15	75090969	75090969	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:75090969C>T	ENST00000220003.9	+	3	758	c.29C>T	c.(28-30)tCc>tTc	p.S10F	CSK_ENST00000439220.2_Missense_Mutation_p.S10F|CSK_ENST00000309470.9_Missense_Mutation_p.S10F|CSK_ENST00000567571.1_Missense_Mutation_p.S10F	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	10	Interaction with PTPN8. {ECO:0000250}.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						GCCTGGCCATCCGGTACAGAA	0.642																																						uc010bkb.1		NA																	0				lung(2)|central_nervous_system(1)	3						c.(28-30)TCC>TTC		c-src tyrosine kinase							45.0	42.0	43.0					15																	75090969		2197	4296	6493	SO:0001583	missense	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75090969C>T		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.29C>T	15.37:g.75090969C>T	ENSP00000220003:p.Ser10Phe					CSK_uc010bka.2_Silent_p.I80I|CSK_uc002ays.2_Missense_Mutation_p.S10F|CSK_uc010bkc.1_5'Flank	p.S10F	NM_001127190	NP_001120662	P41240	CSK_HUMAN			4	212	+			10			Interaction with PTPN8 (By similarity).|SH3.		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	c.29C>T	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268126	0.80469	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.76316	-1.01;-1.01;-1.01	4.71	4.71	0.59529	Src homology-3 domain (2);	0.516023	0.21522	N	0.073191	T	0.68943	0.3056	L	0.39514	1.22	0.44388	D	0.997299	P	0.49635	0.926	B	0.36030	0.216	T	0.75473	-0.3305	10	0.56958	D	0.05	-18.0388	17.4445	0.87574	0.0:1.0:0.0:0.0	.	10	P41240	CSK_HUMAN	F	10	ENSP00000220003:S10F;ENSP00000414764:S10F;ENSP00000438808:S10F	ENSP00000220003:S10F	S	+	2	0	CSK	72878022	0.600000	0.26899	0.999000	0.59377	0.972000	0.66771	5.515000	0.67049	2.458000	0.83093	0.561000	0.74099	TCC		0.642	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		20	23	0	0	0	0	20	23				
MAN2C1	4123	broad.mit.edu	37	15	75648457	75648457	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:75648457G>C	ENST00000267978.5	-	25	3036	c.2990C>G	c.(2989-2991)gCc>gGc	p.A997G	MAN2C1_ENST00000563622.1_Missense_Mutation_p.A898G|RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000565683.1_Missense_Mutation_p.A1014G|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A974G	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	997					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCACAGGATGGCCTCCTGAAC	0.672																																						uc002baf.2		NA																	0					0						c.(2989-2991)GCC>GGC		mannosidase, alpha, class 2C, member 1							28.0	33.0	31.0					15																	75648457		2197	4291	6488	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75648457G>C	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2990C>G	15.37:g.75648457G>C	ENSP00000267978:p.Ala997Gly					MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Missense_Mutation_p.A974G|MAN2C1_uc002bah.2_Missense_Mutation_p.A1014G|MAN2C1_uc010bkk.2_Missense_Mutation_p.A898G	p.A997G	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			25	3007	-			997					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.2990C>G	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988163	0.74589	.	.	ENSG00000140400	ENST00000267978	T	0.80214	-1.35	5.07	5.07	0.68467	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.056682	0.64402	D	0.000001	D	0.82779	0.5111	L	0.55834	1.745	0.48452	D	0.999652	D;D	0.65815	0.995;0.991	P;P	0.55824	0.785;0.785	T	0.82820	-0.0268	10	0.48119	T	0.1	-19.6781	10.6349	0.45558	0.0894:0.0:0.9106:0.0	.	974;997	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	G	997	ENSP00000267978:A997G	ENSP00000267978:A997G	A	-	2	0	MAN2C1	73435510	1.000000	0.71417	0.923000	0.36655	0.615000	0.37417	6.314000	0.72848	2.376000	0.81061	0.462000	0.41574	GCC		0.672	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			10	49	0	0	0	0	10	49				
NRG4	145957	broad.mit.edu	37	15	76254225	76254225	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:76254225A>G	ENST00000394907.3	-	4	376	c.195T>C	c.(193-195)ttT>ttC	p.F65F	NRG4_ENST00000535975.1_Silent_p.F65F	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	65					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						CCAATGCCACAAAAGCTTCAA	0.393																																						uc002bbo.2		NA																	0					0						c.(193-195)TTT>TTC		neuregulin 4							113.0	120.0	117.0					15																	76254225		2197	4294	6491	SO:0001819	synonymous_variant	145957					extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr15:76254225A>G	BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.195T>C	15.37:g.76254225A>G						NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	p.F65F	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN			4	379	-			65			Helical; Note=Internal signal sequence; (Potential).		A6NIE8	Silent	SNP	ENST00000394907.3	37	c.195T>C	CCDS10288.1																																																																																				0.393	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286632.1	NM_138573		100	97	0	0	0	0	100	97				
AP3B2	8120	broad.mit.edu	37	15	83328416	83328417	+	Silent	DNP	GG	GG	AT			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:83328416_83328417GG>AT	ENST00000261722.3	-	26	3351_3352	c.3144_3145CC>AT	c.(3142-3147)acCCtg>acATtg	p.1048_1049TL>TL	AP3B2_ENST00000535359.1_Silent_p.1067_1068TL>TL|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.1016_1017TL>TL	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1048					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGGCATCCAGGGTCAGCAGAA	0.559																																						uc010uoh.1		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(3142-3147)ACCCTG>ACATTG		adaptor-related protein complex 3, beta 2																																				SO:0001819	synonymous_variant	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83328416_83328417GG>AT	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3144_3145delinsAT	15.37:g.83328416_83328417delinsAT						AP3B2_uc010uoi.1_Silent_p.1067_1068TL>TL|AP3B2_uc010uoj.1_Silent_p.1016_1017TL>TL|AP3B2_uc010bmp.2_Silent_p.111_112TL>TL|AP3B2_uc010uog.1_Silent_p.684_685TL>TL	p.1048_1049TL>TL	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		26	3321_3322	-			1048_1049					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	DNP	ENST00000261722.3	37	c.3144_3145CC>AT	CCDS45331.1																																																																																				0.559	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			14	43	0	0	0	0	14	43				
NMB	4828	broad.mit.edu	37	15	85200448	85200448	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:85200448C>G	ENST00000360476.3	-	2	684	c.289G>C	c.(289-291)Gct>Cct	p.A97P	WDR73_ENST00000434634.2_5'Flank|NMB_ENST00000394588.3_Missense_Mutation_p.A97P|WDR73_ENST00000398528.3_5'Flank			P08949	NMB_HUMAN	neuromedin B	97					arachidonic acid secretion (GO:0050482)|cell-cell signaling (GO:0007267)|glucose homeostasis (GO:0042593)|negative regulation of hormone secretion (GO:0046888)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hormone secretion (GO:0046887)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|neuron projection (GO:0043005)	hormone activity (GO:0005179)			endometrium(1)	1				all cancers(203;3.5e-06)		ACGCCCAGAGCCTTCTTTAGC	0.652																																						uc002bkz.2		NA																	0					0						c.(289-291)GCT>CCT		neuromedin B isoform 1							30.0	29.0	29.0					15																	85200448		2203	4299	6502	SO:0001583	missense	4828				cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr15:85200448C>G		CCDS10332.1, CCDS42076.1	15q25.2-q25.3	2013-09-19			ENSG00000197696	ENSG00000197696			7842	protein-coding gene	gene with protein product		162340				2458345	Standard	NM_021077		Approved	MGC2277, MGC3936, MGC17211	uc002bla.3	P08949	OTTHUMG00000148666	ENST00000360476.3:c.289G>C	15.37:g.85200448C>G	ENSP00000353664:p.Ala97Pro					WDR73_uc002bkw.2_5'Flank|WDR73_uc002bkx.2_5'Flank|WDR73_uc010upa.1_5'Flank|NMB_uc002bla.2_Missense_Mutation_p.A97P	p.A97P	NM_021077	NP_066563	P08949	NMB_HUMAN		all cancers(203;3.5e-06)	2	708	-			97					Q96A06|Q96HH5	Missense_Mutation	SNP	ENST00000360476.3	37	c.289G>C	CCDS10332.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112016	0.56398	.	.	ENSG00000197696	ENST00000360476;ENST00000394588	T;T	0.48836	0.83;0.8	5.31	1.0	0.19881	.	0.388539	0.24854	N	0.035061	T	0.40448	0.1117	L	0.29908	0.895	0.09310	N	0.999998	P;P	0.52061	0.95;0.856	P;P	0.53809	0.735;0.451	T	0.17623	-1.0363	10	0.56958	D	0.05	-0.4983	3.9773	0.09479	0.3496:0.4705:0.0:0.1799	.	97;97	P08949-2;P08949	.;NMB_HUMAN	P	97	ENSP00000353664:A97P;ENSP00000378089:A97P	ENSP00000353664:A97P	A	-	1	0	NMB	83001452	0.998000	0.40836	0.116000	0.21606	0.780000	0.44128	1.074000	0.30703	0.377000	0.24735	0.650000	0.86243	GCT		0.652	NMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308995.1	NM_021077		13	19	0	0	0	0	13	19				
SLC28A1	9154	broad.mit.edu	37	15	85488082	85488082	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:85488082C>T	ENST00000286749.3	+	17	1948	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	SLC28A1_ENST00000538177.1_Missense_Mutation_p.R454C|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000394573.1_Missense_Mutation_p.R620C|SLC28A1_ENST00000537624.1_Missense_Mutation_p.R620C			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	620					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CCAGTGCTGCCGTGAGGCCTT	0.592																																						uc002blg.2		NA																	0				skin(2)|ovary(1)	3						c.(1858-1860)CGT>TGT		solute carrier family 28, member 1 isoform 1							72.0	67.0	68.0					15																	85488082		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85488082C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1858C>T	15.37:g.85488082C>T	ENSP00000286749:p.Arg620Cys					SLC28A1_uc010bnb.2_Missense_Mutation_p.R620C|SLC28A1_uc010upe.1_Missense_Mutation_p.R454C|SLC28A1_uc010upf.1_Missense_Mutation_p.R620C|SLC28A1_uc010upg.1_Intron	p.R620C	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		18	2060	+			620					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1858C>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	9.946	1.218946	0.22373	.	.	ENSG00000156222	ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.02812	4.15;4.62;4.61;4.61	4.72	1.46	0.22682	.	1.513240	0.03543	N	0.224207	T	0.11452	0.0279	M	0.75264	2.295	0.09310	N	1	D;B;D	0.69078	0.997;0.004;0.995	P;B;P	0.58520	0.84;0.001;0.696	T	0.12372	-1.0550	10	0.66056	D	0.02	-7.7754	5.6387	0.17552	0.4667:0.4352:0.0:0.0981	.	620;454;620	F5H560;B7Z3L6;O00337	.;.;S28A1_HUMAN	C	454;620;620;620	ENSP00000443752:R454C;ENSP00000444700:R620C;ENSP00000286749:R620C;ENSP00000378074:R620C	ENSP00000286749:R620C	R	+	1	0	SLC28A1	83289086	0.000000	0.05858	0.130000	0.21974	0.005000	0.04900	-0.045000	0.12003	0.561000	0.29186	0.561000	0.74099	CGT		0.592	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			36	54	0	0	0	0	36	54				
KLHL25	64410	broad.mit.edu	37	15	86312264	86312264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:86312264C>A	ENST00000337975.5	-	2	1052	c.778G>T	c.(778-780)Gag>Tag	p.E260*	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Nonsense_Mutation_p.E260*|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	260					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTGGTGCGCTCGTCTGCCATG	0.667																																						uc002bly.2		NA																	0				ovary(2)	2						c.(778-780)GAG>TAG		BTB/POZ KELCH domain protein							36.0	31.0	33.0					15																	86312264		2202	4299	6501	SO:0001587	stop_gained	64410					cytoplasm		g.chr15:86312264C>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.778G>T	15.37:g.86312264C>A	ENSP00000336800:p.Glu260*						p.E260*	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN			2	981	-			260					B2RDH2|B3KRT7	Nonsense_Mutation	SNP	ENST00000337975.5	37	c.778G>T	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750635	0.49257	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	.	.	.	5.09	5.09	0.68999	.	0.142348	0.45867	U	0.000321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	17.5413	0.87849	0.0:1.0:0.0:0.0	.	.	.	.	X	260;229;260	.	ENSP00000336800:E260X	E	-	1	0	KLHL25	84113268	0.997000	0.39634	0.472000	0.27241	0.158000	0.22134	3.694000	0.54742	2.382000	0.81193	0.456000	0.33151	GAG		0.667	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		17	26	1	0	0.00074312	0.000830194	17	26				
NTRK3	4916	broad.mit.edu	37	15	88679705	88679705	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:88679705G>T	ENST00000360948.2	-	7	919	c.758C>A	c.(757-759)aCt>aAt	p.T253N	NTRK3_ENST00000394480.2_Missense_Mutation_p.T253N|NTRK3_ENST00000557856.1_Missense_Mutation_p.T253N|NTRK3_ENST00000558676.1_Missense_Mutation_p.T253N|NTRK3_ENST00000540489.2_Missense_Mutation_p.T253N|NTRK3_ENST00000355254.2_Missense_Mutation_p.T253N|NTRK3_ENST00000317501.3_Missense_Mutation_p.T253N|NTRK3_ENST00000542733.2_Missense_Mutation_p.T155N|NTRK3_ENST00000357724.2_Missense_Mutation_p.T253N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	253	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TACCTGGTGAGTGTTGATGGA	0.517			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(757-759)ACT>AAT		neurotrophic tyrosine kinase, receptor, type 3							123.0	85.0	98.0					15																	88679705		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679705G>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.758C>A	15.37:g.88679705G>T	ENSP00000354207:p.Thr253Asn	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.T253N|NTRK3_uc002bmf.1_Missense_Mutation_p.T253N|NTRK3_uc010upl.1_Missense_Mutation_p.T155N|NTRK3_uc010bnh.1_Missense_Mutation_p.T253N|NTRK3_uc002bmg.2_Missense_Mutation_p.T253N	p.T253N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		7	920	-			253			Ig-like C2-type 1.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.758C>A	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656358	0.88056	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.64	5.64	0.86602	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.100839	0.64402	D	0.000002	T	0.79551	0.4465	L	0.39467	1.215	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;0.991;0.958;1.0;0.991;0.958	D;P;P;D;P;P	0.77557	0.925;0.898;0.821;0.99;0.876;0.821	T	0.78635	-0.2127	10	0.46703	T	0.11	.	18.6884	0.91574	0.0:0.0:1.0:0.0	.	155;253;253;253;253;253	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	N	253;253;253;253;155;253;253	ENSP00000377990:T253N;ENSP00000354207:T253N;ENSP00000350356:T253N;ENSP00000347397:T253N;ENSP00000437773:T155N;ENSP00000444673:T253N;ENSP00000318328:T253N	ENSP00000318328:T253N	T	-	2	0	NTRK3	86480709	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.065000	0.76727	2.657000	0.90304	0.655000	0.94253	ACT		0.517	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				10	46	1	0	7.48e-07	9.15e-07	10	46				
HAPLN3	145864	broad.mit.edu	37	15	89424727	89424727	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:89424727G>A	ENST00000359595.3	-	3	568	c.354C>T	c.(352-354)cgC>cgT	p.R118R	HAPLN3_ENST00000562889.1_Silent_p.R180R	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	118	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GCAGGTGCACGCGGCCTTGGT	0.627																																						uc002bnc.2		NA																	0					0						c.(352-354)CGC>CGT		hyaluronan and proteoglycan link protein 3							101.0	78.0	86.0					15																	89424727		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424727G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.354C>T	15.37:g.89424727G>A						HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.R180R	p.R118R	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			3	482	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		118			Ig-like V-type.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.354C>T	CCDS10346.1																																																																																				0.627	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		12	135	0	0	0	0	12	135				
TARSL2	123283	broad.mit.edu	37	15	102201966	102201966	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr15:102201966C>G	ENST00000335968.3	-	16	2237	c.2021G>C	c.(2020-2022)gGa>gCa	p.G674A	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	674					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCACTGATCCCAAAATGGC	0.308																																						uc002bxm.2		NA																	0				ovary(2)	2						c.(2020-2022)GGA>GCA		threonyl-tRNA synthetase-like 2							61.0	61.0	61.0					15																	102201966		2203	4299	6502	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102201966C>G	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2021G>C	15.37:g.102201966C>G	ENSP00000338093:p.Gly674Ala					TARSL2_uc002bxl.2_Missense_Mutation_p.G219A|TARSL2_uc010usi.1_RNA	p.G674A	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		16	2076	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		674					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.2021G>C	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819603	0.90873	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.43	5.43	0.79202	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	H	0.98238	4.18	0.80722	D	1	D;D	0.61080	0.989;0.985	P;P	0.60068	0.831;0.868	D	0.92011	0.5618	9	0.87932	D	0	-24.8303	16.7466	0.85474	0.0:1.0:0.0:0.0	.	674;579	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	A	674;579;674	.	ENSP00000329291:G579A	G	-	2	0	TARSL2	100019489	1.000000	0.71417	0.943000	0.38184	0.974000	0.67602	7.415000	0.80131	2.552000	0.86080	0.561000	0.74099	GGA		0.308	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		7	41	0	0	0	0	7	41				
CASKIN1	57524	broad.mit.edu	37	16	2235118	2235118	+	Silent	SNP	G	G	T	rs369936813		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:2235118G>T	ENST00000343516.6	-	12	1325	c.1233C>A	c.(1231-1233)ggC>ggA	p.G411G	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	411	CASK-binding. {ECO:0000250}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CTACCTTGACGCCTTCAGAGC	0.687																																						uc010bsg.1		NA																	0				skin(2)	2						c.(1231-1233)GGC>GGA		CASK interacting protein 1							27.0	38.0	34.0					16																	2235118		1989	4151	6140	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2235118G>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1233C>A	16.37:g.2235118G>T							p.G411G	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			12	1265	-			411			CASK-binding (By similarity).		Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.1233C>A	CCDS42103.1																																																																																				0.687	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		8	20	1	0	0.000157383	0.000179846	8	20				
TVP23A	780776	broad.mit.edu	37	16	10861862	10861862	+	3'UTR	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:10861862A>T	ENST00000299866.8	-	0	2030				NUBP1_ENST00000433392.2_Missense_Mutation_p.T282S|NUBP1_ENST00000283027.5_Missense_Mutation_p.T293S|TVP23A_ENST00000572980.1_Intron	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)							integral component of membrane (GO:0016021)											TTCCCCAGCCACGTTAGCCTA	0.438																																						uc002daa.1		NA																	0				ovary(1)|skin(1)	2						c.(877-879)ACG>TCG		nucleotide binding protein 1							116.0	115.0	115.0					16																	10861862		2197	4300	6497	SO:0001624	3_prime_UTR_variant	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10861862A>T		CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.*1097T>A	16.37:g.10861862A>T						FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_Intron|FAM18A_uc010bun.2_Intron|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_Intron|FAM18A_uc010buo.1_3'UTR|FAM18A_uc002daf.1_RNA|NUBP1_uc002dab.1_Missense_Mutation_p.T282S|FAM18A_uc002dae.1_3'UTR	p.T293S	NM_002484	NP_002475	P53384	NUBP1_HUMAN			10	900	+			293					B2RUV4|B7ZW18	Missense_Mutation	SNP	ENST00000299866.8	37	c.877A>T	CCDS45408.1	.	.	.	.	.	.	.	.	.	.	a	5.023	0.189872	0.09547	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.15718	2.4;2.4	5.27	3.04	0.35103	.	0.159868	0.56097	D	0.000030	T	0.09905	0.0243	N	0.25957	0.775	0.80722	D	1	B;B	0.25441	0.018;0.126	B;B	0.25405	0.053;0.06	T	0.13045	-1.0524	10	0.09843	T	0.71	-0.4985	8.5668	0.33545	0.8428:0.0:0.1572:0.0	.	282;293	P53384-2;P53384	.;NUBP1_HUMAN	S	293;282	ENSP00000283027:T293S;ENSP00000409654:T282S	ENSP00000283027:T293S	T	+	1	0	NUBP1	10769363	0.993000	0.37304	0.944000	0.38274	0.243000	0.25628	2.186000	0.42593	0.841000	0.35020	0.454000	0.30748	ACG		0.438	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1	NM_001079512		40	31	0	0	0	0	40	31				
ACSM5	54988	broad.mit.edu	37	16	20430566	20430566	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:20430566G>T	ENST00000331849.4	+	4	579	c.432G>T	c.(430-432)ccG>ccT	p.P144P	ACSM5_ENST00000575584.1_Silent_p.P144P	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	144					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGATGATTCCGGGTGTGACTC	0.552																																						uc002dhe.2		NA																	0				ovary(2)	2						c.(430-432)CCG>CCT		acyl-CoA synthetase medium-chain family member 5							79.0	73.0	75.0					16																	20430566		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20430566G>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.432G>T	16.37:g.20430566G>T						ACSM5_uc002dhd.1_Silent_p.P144P	p.P144P	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			4	579	+			144					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.432G>T	CCDS10585.1																																																																																				0.552	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		20	46	1	0	8.1e-08	1.02e-07	20	46				
TNRC6A	27327	broad.mit.edu	37	16	24816384	24816384	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:24816384G>A	ENST00000395799.3	+	14	4163	c.4034G>A	c.(4033-4035)cGg>cAg	p.R1345Q	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1296Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1345					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCACAACCCCGGGGCATGCAG	0.473																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(4033-4035)CGG>CAG		trinucleotide repeat containing 6A							130.0	129.0	129.0					16																	24816384		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24816384G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4034G>A	16.37:g.24816384G>A	ENSP00000379144:p.Arg1345Gln					TNRC6A_uc010bxs.2_Missense_Mutation_p.R1092Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1043Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R984Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_Missense_Mutation_p.R12Q	p.R1345Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	14	4148	+			1345					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4034G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	33	5.242752	0.95272	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.16196	2.36;2.38	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.52573	1.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.01225	-1.1413	10	0.49607	T	0.09	-15.7521	20.5373	0.99239	0.0:0.0:1.0:0.0	.	12;1296;1345	B3KSX2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	Q	1296;1345	ENSP00000326900:R1296Q;ENSP00000379144:R1345Q	ENSP00000326900:R1296Q	R	+	2	0	TNRC6A	24723885	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.168000	0.94781	2.857000	0.98124	0.650000	0.86243	CGG		0.473	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		63	58	0	0	0	0	63	58				
ZNF48	197407	broad.mit.edu	37	16	30408665	30408665	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:30408665A>T	ENST00000320159.2	+	2	470	c.94A>T	c.(94-96)Aac>Tac	p.N32Y	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGGGAGTGAGAACGTGATTTC	0.473																																						uc002dya.1		NA																	0					0						c.(94-96)AAC>TAC		zinc finger protein 48							91.0	91.0	91.0					16																	30408665		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30408665A>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.94A>T	16.37:g.30408665A>T	ENSP00000324056:p.Asn32Tyr					ZNF48_uc002dxz.1_5'UTR	p.N32Y	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN			2	153	+			32					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.94A>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.874170	0.51695	.	.	ENSG00000180035	ENST00000495929;ENST00000528032;ENST00000524644;ENST00000320159	T;T;T	0.07688	3.49;3.4;3.17	4.61	1.09	0.20402	.	1.513590	0.04510	N	0.382780	T	0.03739	0.0106	N	0.08118	0	0.22500	N	0.99904	P	0.39576	0.679	B	0.25884	0.064	T	0.32561	-0.9902	10	0.72032	D	0.01	-17.9328	4.7478	0.13045	0.6595:0.1623:0.1782:0.0	.	32	Q96MX3	ZNF48_HUMAN	Y	157;32;32;32	ENSP00000435674:N32Y;ENSP00000432548:N32Y;ENSP00000324056:N32Y	ENSP00000324056:N32Y	N	+	1	0	ZNF48	30316166	0.982000	0.34865	0.207000	0.23584	0.697000	0.40408	1.692000	0.37731	0.056000	0.16144	0.460000	0.39030	AAC		0.473	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		28	85	0	0	0	0	28	85				
NOD2	64127	broad.mit.edu	37	16	50745419	50745419	+	Nonsense_Mutation	SNP	C	C	T	rs147417132		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:50745419C>T	ENST00000300589.2	+	4	1702	c.1597C>T	c.(1597-1599)Caa>Taa	p.Q533*	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	533	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTCAGCTTCCCAAGGTCTGGG	0.617																																						uc002egm.1		NA																	0				ovary(3)|skin(1)	4						c.(1597-1599)CAA>TAA		nucleotide-binding oligomerization domain		C	stop/GLN	0,4396		0,0,2198	40.0	45.0	44.0		1597	3.3	0.0	16	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	NOD2	NM_022162.1		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		533/1041	50745419	1,12995	2198	4300	6498	SO:0001587	stop_gained	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745419C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1597C>T	16.37:g.50745419C>T	ENSP00000300589:p.Gln533*					NOD2_uc010cbk.1_Nonsense_Mutation_p.Q506*|NOD2_uc002egl.1_Nonsense_Mutation_p.Q311*|NOD2_uc010cbl.1_Nonsense_Mutation_p.Q311*|NOD2_uc010cbm.1_Nonsense_Mutation_p.Q311*|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.Q533*	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1702	+		all_cancers(37;0.0156)	533			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Nonsense_Mutation	SNP	ENST00000300589.2	37	c.1597C>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531365	0.45073	0.0	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	.	.	.	4.27	3.3	0.37823	.	1.932640	0.02019	N	0.047620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	6.0798	0.19935	0.0:0.7031:0.1945:0.1024	.	.	.	.	X	506;533	.	ENSP00000300589:Q533X	Q	+	1	0	NOD2	49302920	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.248000	0.18198	1.155000	0.42497	0.556000	0.70494	CAA		0.617	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		30	39	0	0	0	0	30	39				
ZFHX3	463	broad.mit.edu	37	16	72991344	72991344	+	Missense_Mutation	SNP	C	C	G	rs148024459		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:72991344C>G	ENST00000268489.5	-	2	3373	c.2701G>C	c.(2701-2703)Gcc>Ccc	p.A901P	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	901					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCGTCATGGCGGCCATGGGC	0.547																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(2701-2703)GCC>CCC		zinc finger homeobox 3 isoform A							84.0	87.0	86.0					16																	72991344		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991344C>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2701G>C	16.37:g.72991344C>G	ENSP00000268489:p.Ala901Pro					ZFHX3_uc002fcl.2_Intron	p.A901P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	3374	-		Ovarian(137;0.13)	901					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.2701G>C	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123011	0.37436	.	.	ENSG00000140836	ENST00000268489	T	0.53206	0.63	5.8	3.84	0.44239	.	0.000000	0.49916	D	0.000136	T	0.54565	0.1866	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.52837	-0.8522	10	0.42905	T	0.14	.	7.6394	0.28284	0.1177:0.69:0.0:0.1923	.	901	Q15911	ZFHX3_HUMAN	P	901	ENSP00000268489:A901P	ENSP00000268489:A901P	A	-	1	0	ZFHX3	71548845	0.951000	0.32395	1.000000	0.80357	0.933000	0.57130	2.095000	0.41729	1.456000	0.47831	0.655000	0.94253	GCC		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		59	42	0	0	0	0	59	42				
FOXC2	2303	broad.mit.edu	37	16	86602395	86602395	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr16:86602395C>A	ENST00000320354.4	+	1	1539	c.1454C>A	c.(1453-1455)cCg>cAg	p.P485Q	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	485					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						AGATCCACGCCGCCTCTCTAT	0.647									Late-onset Hereditary Lymphedema																													uc002fjq.2		NA																	0					0						c.(1453-1455)CCG>CAG		forkhead box C2							31.0	29.0	30.0					16																	86602395		2113	4171	6284	SO:0001583	missense	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86602395C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1454C>A	16.37:g.86602395C>A	ENSP00000326371:p.Pro485Gln						p.P485Q	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	1539	+			485					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.1454C>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	0.931	-0.712728	0.03206	.	.	ENSG00000176692	ENST00000320354	T	0.70516	-0.49	4.35	3.35	0.38373	.	2.147360	0.02624	U	0.103543	T	0.51601	0.1684	N	0.03608	-0.345	0.46298	D	0.998979	B	0.22851	0.076	B	0.16289	0.015	T	0.12477	-1.0546	10	0.24483	T	0.36	.	12.4299	0.55569	0.1678:0.8322:0.0:0.0	.	485	Q99958	FOXC2_HUMAN	Q	485	ENSP00000326371:P485Q	ENSP00000326371:P485Q	P	+	2	0	FOXC2	85159896	1.000000	0.71417	0.917000	0.36280	0.136000	0.21042	4.408000	0.59761	2.223000	0.72356	0.462000	0.41574	CCG		0.647	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		39	25	1	0	8.16e-20	1.19e-19	39	25				
MYO1C	4641	broad.mit.edu	37	17	1381744	1381744	+	Missense_Mutation	SNP	G	G	A	rs200201230		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:1381744G>A	ENST00000575158.1	-	11	1326	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	MYO1C_ENST00000361007.2_Missense_Mutation_p.L384F|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000545534.2_Missense_Mutation_p.L395F|MYO1C_ENST00000359786.5_Missense_Mutation_p.L419F|MYO1C_ENST00000438665.2_Missense_Mutation_p.L400F			Q12965	MYO1E_HUMAN	myosin IC	386	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATATCCAGGAGCCCGAGAACC	0.622																																						uc002fsp.2		NA																	0					0						c.(1255-1257)CTC>TTC		myosin IC isoform a							67.0	78.0	74.0					17																	1381744		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381744G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1150C>T	17.37:g.1381744G>A	ENSP00000459174:p.Leu384Phe					MYO1C_uc002fsn.2_Missense_Mutation_p.L400F|MYO1C_uc002fso.2_Missense_Mutation_p.L384F|MYO1C_uc010vqj.1_Missense_Mutation_p.L384F|MYO1C_uc010vqk.1_Missense_Mutation_p.L395F	p.L419F	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1475	-			419			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1255C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485482	0.63962	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.73	5.73	0.89815	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	M	0.90595	3.13	0.58432	D	0.999991	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.995	D	0.94528	0.7733	10	0.72032	D	0.01	.	12.155	0.54072	0.0861:0.0:0.9139:0.0	.	395;419;400	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	F	419;400;400;384;395;384	ENSP00000352834:L419F;ENSP00000412197:L400F;ENSP00000354283:L384F;ENSP00000437685:L395F	ENSP00000352834:L419F	L	-	1	0	MYO1C	1328494	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	4.482000	0.60257	2.709000	0.92574	0.563000	0.77884	CTC		0.622	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			25	45	0	0	0	0	25	45				
ELP5	23587	broad.mit.edu	37	17	7160292	7160292	+	Missense_Mutation	SNP	G	G	T	rs147755585		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:7160292G>T	ENST00000396628.2	+	5	791	c.574G>T	c.(574-576)Ggt>Tgt	p.G192C	ELP5_ENST00000354429.2_Missense_Mutation_p.G192C|ELP5_ENST00000356683.2_Missense_Mutation_p.G192C|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Missense_Mutation_p.G192C|ELP5_ENST00000574993.1_Missense_Mutation_p.G192C	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	192					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											GACCCTGGGCGGTACCATGGG	0.617																																						uc002gfg.1		NA																	0					0						c.(574-576)GGT>TGT		S-phase 2 protein isoform 4							45.0	41.0	42.0					17																	7160292		2203	4300	6503	SO:0001583	missense	23587				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr17:7160292G>T	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.574G>T	17.37:g.7160292G>T	ENSP00000379869:p.Gly192Cys					C17orf81_uc002gfj.2_Missense_Mutation_p.G192C|C17orf81_uc010cmb.2_Missense_Mutation_p.G192C|C17orf81_uc002gfh.1_Missense_Mutation_p.G192C|C17orf81_uc002gfi.1_Missense_Mutation_p.G192C|C17orf81_uc002gfl.1_Missense_Mutation_p.G192C	p.G192C	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN			6	681	+			192					A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	c.574G>T	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789309	0.31685	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.53423	1.44;1.44;1.44;0.62	5.32	4.34	0.51931	.	0.123732	0.53938	D	0.000041	T	0.56920	0.2018	M	0.64997	1.995	0.27848	N	0.940859	P;D;P	0.53462	0.87;0.96;0.893	B;P;P	0.54431	0.323;0.752;0.452	T	0.56001	-0.8051	10	0.72032	D	0.01	-7.8101	11.6368	0.51209	0.0:0.0:0.822:0.178	.	192;192;192	Q8TE02-2;A8K1M5;Q8TE02	.;.;DERP6_HUMAN	C	192	ENSP00000346412:G192C;ENSP00000379869:G192C;ENSP00000379868:G192C;ENSP00000349111:G192C	ENSP00000346412:G192C	G	+	1	0	C17orf81	7101016	0.956000	0.32656	0.194000	0.23346	0.012000	0.07955	2.819000	0.48049	1.383000	0.46405	-0.181000	0.13052	GGT		0.617	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		15	21	1	0	6.32e-08	7.93e-08	15	21				
MYH4	4622	broad.mit.edu	37	17	10355578	10355578	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:10355578G>T	ENST00000255381.2	-	27	3528	c.3418C>A	c.(3418-3420)Cgc>Agc	p.R1140S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1140					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGTCAGAGCGCTGCTTCTCT	0.582																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3418-3420)CGC>AGC		myosin, heavy polypeptide 4, skeletal muscle							60.0	66.0	64.0					17																	10355578		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355578G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3418C>A	17.37:g.10355578G>T	ENSP00000255381:p.Arg1140Ser					uc002gml.1_Intron	p.R1140S	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			27	3529	-			1140			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.3418C>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940418	0.73557	.	.	ENSG00000141048	ENST00000255381	D	0.82433	-1.61	5.4	4.36	0.52297	Myosin tail (1);	0.000000	0.35291	U	0.003304	D	0.92665	0.7669	M	0.92970	3.365	0.51012	D	0.999908	D	0.89917	1.0	D	0.79784	0.993	D	0.94026	0.7297	10	0.87932	D	0	.	15.2147	0.73254	0.0:0.0:0.8587:0.1413	.	1140	Q9Y623	MYH4_HUMAN	S	1140	ENSP00000255381:R1140S	ENSP00000255381:R1140S	R	-	1	0	MYH4	10296303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.794000	0.55492	2.685000	0.91497	0.655000	0.94253	CGC		0.582	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		48	72	1	0	2.47e-29	3.69e-29	48	72				
KIAA0100	9703	broad.mit.edu	37	17	26964893	26964893	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:26964893C>T	ENST00000528896.2	-	14	1806	c.1732G>A	c.(1732-1734)Gtc>Atc	p.V578I	KIAA0100_ENST00000544884.1_Missense_Mutation_p.V435I|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.V435I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	578						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGTCTTCGACCTTCAAGTCC	0.473																																						uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1732-1734)GTC>ATC		hypothetical protein LOC9703 precursor							122.0	104.0	110.0					17																	26964893		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26964893C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1732G>A	17.37:g.26964893C>T	ENSP00000436773:p.Val578Ile						p.V578I	NM_014680	NP_055495	Q14667	K0100_HUMAN			14	1831	-	Lung NSC(42;0.00431)		578					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1732G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033425	0.35893	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.23147	1.93;1.92	5.76	5.76	0.90799	FMP27, N-terminal (1);	0.060465	0.64402	D	0.000002	T	0.15696	0.0378	N	0.14661	0.345	0.40289	D	0.978489	B	0.24920	0.114	B	0.23150	0.044	T	0.12837	-1.0532	10	0.23302	T	0.38	.	13.2107	0.59822	0.0:0.9274:0.0:0.0725	.	578	Q14667	K0100_HUMAN	I	578;578;578;435	ENSP00000436773:V578I;ENSP00000446443:V435I	ENSP00000005905:V578I	V	-	1	0	KIAA0100	23989020	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.762000	0.55250	2.724000	0.93272	0.563000	0.77884	GTC		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		17	41	0	0	0	0	17	41				
ZNF207	7756	broad.mit.edu	37	17	30692368	30692368	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:30692368A>T	ENST00000321233.6	+	7	796	c.642A>T	c.(640-642)ccA>ccT	p.P214P	ZNF207_ENST00000394670.4_Silent_p.P230P|ZNF207_ENST00000394673.2_Silent_p.P230P|ZNF207_ENST00000577908.1_Silent_p.P230P|ZNF207_ENST00000342555.6_Silent_p.P233P|ZNF207_ENST00000341711.6_Silent_p.P131P	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	214					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCTGTTCCACGTCCTGGAA	0.458																																						uc002hhh.3		NA																	0					0						c.(640-642)CCA>CCT		zinc finger protein 207 isoform a							84.0	81.0	82.0					17																	30692368		2203	4300	6503	SO:0001819	synonymous_variant	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30692368A>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.642A>T	17.37:g.30692368A>T						ZNF207_uc002hhj.3_Silent_p.P230P|ZNF207_uc002hhi.3_Silent_p.P230P|ZNF207_uc010csz.2_Silent_p.P233P|ZNF207_uc002hhk.1_Silent_p.P230P|ZNF207_uc002hhl.1_RNA	p.P214P	NM_003457	NP_003448	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		7	790	+		Breast(31;0.116)|Ovarian(249;0.182)	214					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Silent	SNP	ENST00000321233.6	37	c.642A>T	CCDS11271.1																																																																																				0.458	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			49	81	0	0	0	0	49	81				
CCL2	6347	broad.mit.edu	37	17	32582401	32582401	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:32582401G>T	ENST00000225831.4	+	1	98	c.33G>T	c.(31-33)ctG>ctT	p.L11L	CCL2_ENST00000580907.1_Silent_p.L11L|AC005549.3_ENST00000601918.1_5'Flank	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	11					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	TGTGCCTGCTGCTCATAGCAG	0.537																																						uc002hhy.2		NA																	0				pancreas(1)	1						c.(31-33)CTG>CTT		small inducible cytokine A2 precursor	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)						92.0	75.0	81.0					17																	32582401		2203	4300	6503	SO:0001819	synonymous_variant	6347				angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	g.chr17:32582401G>T	BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"""Chemokine ligands"", ""Endogenous ligands"""	10618	protein-coding gene	gene with protein product	"""monocyte chemotactic protein 1, homologous to mouse Sig-je"", ""monocyte chemoattractant protein-1"", ""monocyte chemotactic and activating factor"", ""monocyte secretory protein JE"", ""small inducible cytokine subfamily A (Cys-Cys), member 2"""	158105	"""small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"""	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.33G>T	17.37:g.32582401G>T							p.L11L	NM_002982	NP_002973	P13500	CCL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	1	106	+	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)	11					B2R4V3|Q9UDF3	Silent	SNP	ENST00000225831.4	37	c.33G>T	CCDS11277.1																																																																																				0.537	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256384.2	NM_002982		7	45	1	0	2.01e-06	2.42e-06	7	45				
GHDC	84514	broad.mit.edu	37	17	40344951	40344951	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:40344951G>C	ENST00000301671.8	-	3	801	c.360C>G	c.(358-360)aaC>aaG	p.N120K	GHDC_ENST00000587427.1_Missense_Mutation_p.N120K|GHDC_ENST00000414034.3_Missense_Mutation_p.N120K|GHDC_ENST00000436923.2_Missense_Mutation_p.N120K|GHDC_ENST00000593209.1_Missense_Mutation_p.N120K|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000428494.2_Intron			Q8N2G8	GHDC_HUMAN	GH3 domain containing	120						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAAGGTCCTGGTTTGAGGTCG	0.592																																						uc002hzd.2		NA																	0					0						c.(358-360)AAC>AAG		LGP1 homolog isoform 1							108.0	121.0	117.0					17																	40344951		2203	4300	6503	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344951G>C	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.360C>G	17.37:g.40344951G>C	ENSP00000301671:p.Asn120Lys					GHDC_uc002hzg.1_Missense_Mutation_p.N120K|GHDC_uc010wgg.1_Intron|GHDC_uc002hze.3_Missense_Mutation_p.N120K|GHDC_uc002hzf.3_Missense_Mutation_p.N120K|GHDC_uc010cxz.2_RNA	p.N120K	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	3	844	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	120					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.360C>G	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	2.000	-0.429728	0.04701	.	.	ENSG00000167925	ENST00000393854;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.61	1.37	0.22104	.	1.550410	0.03778	N	0.260933	T	0.19248	0.0462	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.18147	-1.0346	9	0.05721	T	0.95	3.4106	7.1115	0.25392	0.0:0.1699:0.4794:0.3507	.	120;120	Q8N2G8-2;Q8N2G8	.;GHDC_HUMAN	K	64;120;120;120	.	ENSP00000301671:N120K	N	-	3	2	GHDC	37598477	0.003000	0.15002	0.004000	0.12327	0.020000	0.10135	0.368000	0.20399	0.153000	0.19213	0.561000	0.74099	AAC		0.592	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		44	120	0	0	0	0	44	120				
STAT5B	6777	broad.mit.edu	37	17	40368065	40368065	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:40368065G>A	ENST00000293328.3	-	12	1608	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	480					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGAGAACAGTGGCCGTCGCAT	0.522																																						uc002hzh.2		NA																	0				ovary(3)|lung(2)|skin(1)	6						c.(1438-1440)GCC>GCT		signal transducer and activator of transcription	Dasatinib(DB01254)						103.0	77.0	86.0					17																	40368065		2203	4300	6503	SO:0001819	synonymous_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40368065G>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1440C>T	17.37:g.40368065G>A							p.A480A	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	12	1609	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	480					Q8WWS8	Silent	SNP	ENST00000293328.3	37	c.1440C>T	CCDS11423.1																																																																																				0.522	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		12	18	0	0	0	0	12	18				
RUNDC3A	10900	broad.mit.edu	37	17	42390790	42390790	+	Missense_Mutation	SNP	G	G	T	rs377167401		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:42390790G>T	ENST00000426726.3	+	4	651	c.377G>T	c.(376-378)cGg>cTg	p.R126L	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R121L|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R126L	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	126	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCAGGGCCGGGCATGGATC	0.607																																					Pancreas(82;1061 1416 11136 20771 23901)	uc002igl.3		NA																	0					0						c.(376-378)CGG>CTG		RUN domain containing 3A isoform 1							60.0	64.0	63.0					17																	42390790		2016	4177	6193	SO:0001583	missense	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42390790G>T	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.377G>T	17.37:g.42390790G>T	ENSP00000410862:p.Arg126Leu					RUNDC3A_uc002igi.2_Missense_Mutation_p.R126L|RUNDC3A_uc002igj.2_Missense_Mutation_p.R121L|RUNDC3A_uc002igk.2_Missense_Mutation_p.R122L	p.R126L	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	4	651	+		Prostate(33;0.0233)	126			Interaction with RAP2A (By similarity).|RUN.		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	c.377G>T	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.728023	0.89390	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.19105	2.17;2.17	4.56	4.56	0.56223	RUN (3);	0.000000	0.64402	D	0.000001	T	0.52468	0.1736	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.63198	-0.6691	10	0.87932	D	0	-24.4581	16.0991	0.81158	0.0:0.0:1.0:0.0	.	126;126;121;126	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	L	126	ENSP00000410862:R126L;ENSP00000225441:R126L	ENSP00000225441:R126L	R	+	2	0	RUNDC3A	39746316	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.236000	0.95360	2.098000	0.63641	0.462000	0.41574	CGG		0.607	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		13	48	1	0	1.62e-10	2.14e-10	13	48				
MAPT	4137	broad.mit.edu	37	17	44061110	44061110	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:44061110G>C	ENST00000571987.1	+	5	940	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E314Q|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E314Q|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.E314Q|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000351559.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	314					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.E314Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CGTGCAGAAGGAGCAGGCGCA	0.647																																						uc002ijr.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(1)	1						c.(940-942)GAG>CAG		microtubule-associated protein tau isoform 1							38.0	45.0	42.0					17																	44061110		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44061110G>C	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.940G>C	17.37:g.44061110G>C	ENSP00000458742:p.Glu314Gln					MAPT_uc010dau.2_Missense_Mutation_p.E314Q|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.E314Q	NM_016835	NP_058519	P10636	TAU_HUMAN			6	1260	+		Melanoma(429;0.216)	314					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.940G>C	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687789	0.68271	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.14266	2.54;2.52;2.54	5.28	5.28	0.74379	.	0.175410	0.27415	N	0.019467	T	0.23727	0.0574	L	0.40543	1.245	0.80722	D	1	P;D	0.67145	0.839;0.996	P;P	0.60012	0.506;0.867	T	0.00621	-1.1640	10	0.25106	T	0.35	-12.0846	14.7492	0.69513	0.0:0.0:1.0:0.0	.	314;314	P10636-9;P10636	.;TAU_HUMAN	Q	314	ENSP00000340820:E314Q;ENSP00000262410:E314Q;ENSP00000410838:E314Q	ENSP00000262410:E314Q	E	+	1	0	MAPT	41416947	1.000000	0.71417	0.894000	0.35097	0.229000	0.25112	2.958000	0.49145	2.638000	0.89438	0.561000	0.74099	GAG		0.647	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		20	67	0	0	0	0	20	67				
CHAD	1101	broad.mit.edu	37	17	48545852	48545853	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:48545852_48545853TG>AT	ENST00000508540.1	-	1	474_475	c.322_323CA>AT	c.(322-324)CAt>ATt	p.H108I	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.H108I|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	108					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GATGTCGTTATGGGACAGGTAC	0.629																																						uc010dbr.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(322-324)CAT>ATT		chondroadherin precursor																																				SO:0001583	missense	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545852_48545853TG>AT	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.322_323delinsAT	17.37:g.48545852_48545853delinsAT	ENSP00000423812:p.His108Ile					ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.H108I|ACSF2_uc010dbt.1_Intron	p.H108I	NM_001267	NP_001258	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	375_376	-	Breast(11;1.93e-18)		108			LRR 2.		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	DNP	ENST00000508540.1	37	c.322_323CA>AT	CCDS11568.1																																																																																				0.629	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		23	76	0	0	0	0	23	76				
TRIM25	7706	broad.mit.edu	37	17	54990924	54990924	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:54990924G>A	ENST00000316881.4	-	1	475	c.426C>T	c.(424-426)gaC>gaT	p.D142D	TRIM25_ENST00000537230.1_Silent_p.D142D	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	142					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCAGCGGGTGGTCCTGGAAGG	0.637																																						uc002iut.2		NA																	0				lung(1)|breast(1)|skin(1)	3						c.(424-426)GAC>GAT		tripartite motif-containing 25							25.0	32.0	30.0					17																	54990924		2203	4299	6502	SO:0001819	synonymous_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54990924G>A	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.426C>T	17.37:g.54990924G>A						TRIM25_uc010dcj.2_5'UTR	p.D142D	NM_005082	NP_005073	Q14258	TRI25_HUMAN			1	486	-	Breast(9;6.15e-08)		142						Silent	SNP	ENST00000316881.4	37	c.426C>T	CCDS11591.1																																																																																				0.637	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		19	29	0	0	0	0	19	29				
ACE	1636	broad.mit.edu	37	17	61566111	61566111	+	Missense_Mutation	SNP	C	C	A	rs367822781		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:61566111C>A	ENST00000290866.4	+	16	2432	c.2408C>A	c.(2407-2409)cCg>cAg	p.P803Q	ACE_ENST00000421982.2_Missense_Mutation_p.P113Q|ACE_ENST00000577647.1_Missense_Mutation_p.P229Q|ACE_ENST00000428043.1_Missense_Mutation_p.P803Q|ACE_ENST00000290863.6_Missense_Mutation_p.P229Q|ACE_ENST00000413513.3_Missense_Mutation_p.P229Q|ACE_ENST00000490216.2_Missense_Mutation_p.P229Q	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	803	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.P803Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGTTTTACCCGAAATACGTG	0.552																																						uc002jau.1		NA																	1	Substitution - Missense(1)		breast(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2407-2409)CCG>CAG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						107.0	93.0	98.0					17																	61566111		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566111C>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2408C>A	17.37:g.61566111C>A	ENSP00000290866:p.Pro803Gln					ACE_uc002jav.1_Missense_Mutation_p.P229Q|ACE_uc010ddv.1_Missense_Mutation_p.P30Q|ACE_uc010wpj.1_Missense_Mutation_p.P229Q|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.P113Q	p.P803Q	NM_000789	NP_000780	P12821	ACE_HUMAN			16	2430	+			803			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2408C>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	7.783	0.709848	0.15239	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.49	5.93	3.77	0.43336	.	0.200276	0.49916	D	0.000124	T	0.33381	0.0861	N	0.21097	0.63	0.40924	D	0.984331	B;B;B;D	0.69078	0.009;0.043;0.247;0.997	B;B;B;P	0.61658	0.019;0.089;0.056;0.892	T	0.01390	-1.1367	10	0.18710	T	0.47	-13.564	13.0609	0.59005	0.2621:0.7379:0.0:0.0	.	113;229;229;803	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	Q	803;803;229;229;113	ENSP00000290866:P803Q;ENSP00000397593:P803Q;ENSP00000290863:P229Q;ENSP00000392247:P229Q;ENSP00000387760:P113Q	ENSP00000290863:P229Q	P	+	2	0	ACE	58919843	0.930000	0.31532	0.872000	0.34217	0.038000	0.13279	2.264000	0.43302	2.815000	0.96918	0.561000	0.74099	CCG		0.552	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			11	58	1	0	0.000673444	0.000753027	11	58				
ERN1	2081	broad.mit.edu	37	17	62121439	62121439	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:62121439A>G	ENST00000433197.3	-	22	2938	c.2843T>C	c.(2842-2844)aTg>aCg	p.M948T		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCACAGCTCCATGGCCCGGTA	0.662																																						uc002jdz.2		NA																	0				central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(2842-2844)ATG>ACG		endoplasmic reticulum to nucleus signalling 1							51.0	62.0	58.0					17																	62121439		2073	4224	6297	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62121439A>G	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2843T>C	17.37:g.62121439A>G	ENSP00000401445:p.Met948Thr					uc002jdy.1_5'Flank	p.M948T	NM_001433	NP_001424	O75460	ERN1_HUMAN			22	2956	-			948			Cytoplasmic (Potential).|KEN.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2843T>C	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623117	0.87460	.	.	ENSG00000178607	ENST00000433197	T	0.29655	1.56	5.22	5.22	0.72569	PUG domain (1);KEN domain, ribonuclease activator (2);	0.044530	0.85682	D	0.000000	T	0.42653	0.1212	M	0.76574	2.34	0.80722	D	1	B	0.23128	0.08	B	0.35413	0.202	T	0.42816	-0.9429	10	0.62326	D	0.03	-26.0678	15.1024	0.72292	1.0:0.0:0.0:0.0	.	948	O75460	ERN1_HUMAN	T	948	ENSP00000401445:M948T	ENSP00000401445:M948T	M	-	2	0	ERN1	59475171	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	1.971000	0.57363	0.459000	0.35465	ATG		0.662	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		41	104	0	0	0	0	41	104				
KPNA2	3838	broad.mit.edu	37	17	66040510	66040510	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:66040510T>A	ENST00000537025.2	+	9	1858	c.1238T>A	c.(1237-1239)aTt>aAt	p.I413N	KPNA2_ENST00000330459.3_Missense_Mutation_p.I413N			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	413					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTTGAACAGATTGTGTACCTT	0.388																																						uc002jgk.2		NA																	0				central_nervous_system(2)	2						c.(1237-1239)ATT>AAT		karyopherin alpha 2							226.0	221.0	223.0					17																	66040510		2203	4296	6499	SO:0001583	missense	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66040510T>A	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1238T>A	17.37:g.66040510T>A	ENSP00000438483:p.Ile413Asn					KPNA2_uc002jgl.2_Missense_Mutation_p.I413N	p.I413N	NM_002266	NP_002257	P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		9	1370	+	all_cancers(12;1.18e-09)		413			ARM 9.		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	c.1238T>A	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	t	24.6	4.551776	0.86127	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.71579	-0.58;-0.58	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.067092	0.64402	U	0.000013	D	0.84602	0.5508	M	0.85777	2.775	0.80722	D	1	D	0.61697	0.99	D	0.65010	0.931	D	0.87488	0.2425	10	0.87932	D	0	.	15.4157	0.74966	0.0:0.0:0.0:1.0	.	413	P52292	IMA2_HUMAN	N	413	ENSP00000332455:I413N;ENSP00000438483:I413N	ENSP00000332455:I413N	I	+	2	0	KPNA2	63470972	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.943000	0.87716	2.037000	0.60232	0.365000	0.22127	ATT		0.388	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		61	184	0	0	0	0	61	184				
HGS	9146	broad.mit.edu	37	17	79662939	79662939	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:79662939A>G	ENST00000329138.4	+	15	1438	c.1303A>G	c.(1303-1305)Aat>Gat	p.N435D		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	435	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCATCACCAATGACTCGGC	0.622																																						uc002kbg.2		NA																	0				ovary(1)	1						c.(1303-1305)AAT>GAT		hepatocyte growth factor-regulated tyrosine							75.0	58.0	64.0					17																	79662939		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79662939A>G	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1303A>G	17.37:g.79662939A>G	ENSP00000331201:p.Asn435Asp						p.N435D	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		15	1380	+	all_neural(118;0.0878)|all_lung(278;0.23)		435			Interaction with SNX1 (By similarity).		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.1303A>G	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.988909	0.93106	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.04317	3.65	5.16	5.16	0.70880	Hepatocyte growth factor-regulated tyrosine kinase substrate, helical domain (1);	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	L	0.47190	1.495	0.80722	D	1	D	0.56521	0.976	D	0.69479	0.964	T	0.02132	-1.1208	10	0.36615	T	0.2	-47.2753	14.1392	0.65308	1.0:0.0:0.0:0.0	.	435	O14964	HGS_HUMAN	D	435	ENSP00000331201:N435D	ENSP00000331201:N435D	N	+	1	0	HGS	77273344	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	8.652000	0.91083	1.944000	0.56390	0.383000	0.25322	AAT		0.622	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		15	46	0	0	0	0	15	46				
DLGAP1	9229	broad.mit.edu	37	18	3879232	3879232	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:3879232C>G	ENST00000315677.3	-	4	1432	c.837G>C	c.(835-837)tgG>tgC	p.W279C	DLGAP1_ENST00000581527.1_Missense_Mutation_p.W279C|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.W279C|DLGAP1_ENST00000584874.1_Missense_Mutation_p.W279C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	279					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCGTGGAGGACCAGGCGCTCT	0.642																																						uc002kmf.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(835-837)TGG>TGC		discs large homolog-associated protein 1 isoform							56.0	53.0	54.0					18																	3879232		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879232C>G	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.837G>C	18.37:g.3879232C>G	ENSP00000316377:p.Trp279Cys					DLGAP1_uc010wyz.1_Missense_Mutation_p.W279C|DLGAP1_uc002kmk.2_Missense_Mutation_p.W279C|uc002kml.1_Intron	p.W279C	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	904	-		Colorectal(8;0.0257)	279					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.837G>C	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778830	0.49891	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.49432	0.78;0.78	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	M	0.61703	1.905	0.80722	D	1	B;B;P	0.51653	0.128;0.125;0.947	B;B;P	0.47786	0.045;0.037;0.557	T	0.60747	-0.7202	10	0.62326	D	0.03	-12.4041	19.4162	0.94700	0.0:1.0:0.0:0.0	.	279;279;279	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	C	279	ENSP00000316377:W279C;ENSP00000445973:W279C	ENSP00000316377:W279C	W	-	3	0	DLGAP1	3869232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.458000	0.80787	2.605000	0.88082	0.655000	0.94253	TGG		0.642	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			19	65	0	0	0	0	19	65				
EPB41L3	23136	broad.mit.edu	37	18	5489138	5489138	+	Silent	SNP	C	C	T	rs575037905		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:5489138C>T	ENST00000341928.2	-	2	385	c.45G>A	c.(43-45)caG>caA	p.Q15Q	EPB41L3_ENST00000540638.2_Silent_p.Q15Q|EPB41L3_ENST00000544123.1_Silent_p.Q15Q|EPB41L3_ENST00000342933.3_Silent_p.Q15Q|EPB41L3_ENST00000400111.3_Silent_p.Q15Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	15					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCTCGGCCTCCTGGTCCGGCT	0.667																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(43-45)CAG>CAA		erythrocyte membrane protein band 4.1-like 3							27.0	29.0	29.0					18																	5489138		2175	4233	6408	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5489138C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.45G>A	18.37:g.5489138C>T						EPB41L3_uc010wzh.1_Silent_p.Q15Q|EPB41L3_uc002kmu.1_Silent_p.Q15Q|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.Q37Q|EPB41L3_uc002kmv.1_5'UTR	p.Q15Q	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			2	131	-			15					B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.45G>A	CCDS11838.1																																																																																				0.667	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		21	75	0	0	0	0	21	75				
TMEM200C	645369	broad.mit.edu	37	18	5891714	5891714	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:5891714G>T	ENST00000581347.2	-	3	994	c.349C>A	c.(349-351)Cct>Act	p.P117T	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.P117T			A6NKL6	T200C_HUMAN	transmembrane protein 200C	117						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGAGCCCTAGGGTGGCTCCTG	0.706																																						uc002kmx.1		NA																	0					0						c.(349-351)CCT>ACT		transmembrane protein 200C							39.0	49.0	46.0					18																	5891714		1960	4139	6099	SO:0001583	missense	645369					integral to membrane		g.chr18:5891714G>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.349C>A	18.37:g.5891714G>T	ENSP00000463375:p.Pro117Thr						p.P117T	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	390	-			117						Missense_Mutation	SNP	ENST00000581347.2	37	c.349C>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	2.530	-0.308754	0.05458	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.29	-1.04	0.10068	.	.	.	.	.	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B	0.30851	0.297	B	0.32211	0.142	T	0.31724	-0.9933	8	0.16420	T	0.52	.	6.2299	0.20728	0.3127:0.1246:0.5627:0.0	.	117	A6NKL6	T200C_HUMAN	T	117	.	ENSP00000372982:P117T	P	-	1	0	TMEM200C	5881714	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.192000	0.09587	-0.204000	0.10235	0.460000	0.39030	CCT		0.706	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		19	81	1	0	6.33e-15	8.87e-15	19	81				
LAMA1	284217	broad.mit.edu	37	18	6955459	6955459	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:6955459C>T	ENST00000389658.3	-	57	8193	c.8100G>A	c.(8098-8100)caG>caA	p.Q2700Q	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2700					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCACCACACACTGTTCCTGTA	0.557																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(8098-8100)CAG>CAA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						80.0	60.0	67.0					18																	6955459		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6955459C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8100G>A	18.37:g.6955459C>T						LAMA1_uc002knk.2_Silent_p.Q30Q|LAMA1_uc002knl.2_Silent_p.Q153Q|LAMA1_uc010wzj.1_Silent_p.Q2176Q	p.Q2700Q	NM_005559	NP_005550	P25391	LAMA1_HUMAN			57	8194	-		Colorectal(10;0.172)	2700						Silent	SNP	ENST00000389658.3	37	c.8100G>A	CCDS32787.1																																																																																				0.557	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		18	13	0	0	0	0	18	13				
GATA6	2627	broad.mit.edu	37	18	19761485	19761485	+	Silent	SNP	C	C	T	rs143026087	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:19761485C>T	ENST00000269216.3	+	4	1651	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	RNU6-702P_ENST00000364982.1_RNA|GATA6_ENST00000581694.1_Silent_p.N458N	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	458					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGCGCAGAAACGCCGAGGGTG	0.473													C|||	5	0.000998403	0.0	0.0014	5008	,	,		14163	0.001		0.001	False		,,,				2504	0.002				Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1		NA																	0				central_nervous_system(3)	3						c.(1372-1374)AAC>AAT		GATA binding protein 6		C		5,4401	9.9+/-24.2	0,5,2198	132.0	118.0	123.0		1374	-11.1	0.0	18	dbSNP_134	123	28,8572	19.8+/-62.0	0,28,4272	no	coding-synonymous	GATA6	NM_005257.3		0,33,6470	TT,TC,CC		0.3256,0.1135,0.2537		458/596	19761485	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19761485C>T	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1374C>T	18.37:g.19761485C>T						GATA6_uc002ktu.1_Silent_p.N458N	p.N458N	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		4	1639	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		458			GATA-type 2.		B0YJ17|P78327	Silent	SNP	ENST00000269216.3	37	c.1374C>T	CCDS11872.1																																																																																				0.473	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		4	70	0	0	0	0	4	70				
FHOD3	80206	broad.mit.edu	37	18	34340703	34340703	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:34340703A>C	ENST00000359247.4	+	22	3982	c.3982A>C	c.(3982-3984)Acc>Ccc	p.T1328P	FHOD3_ENST00000592128.1_Missense_Mutation_p.T324P|FHOD3_ENST00000590592.1_Missense_Mutation_p.T1528P|FHOD3_ENST00000257209.4_Missense_Mutation_p.T1345P|FHOD3_ENST00000591635.1_Missense_Mutation_p.T541P|FHOD3_ENST00000445677.1_Missense_Mutation_p.T1307P	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1328					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.T1345P(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGAGGACGCCACCCCCGCGCT	0.682																																						uc002kzt.1		NA																	1	Substitution - Missense(1)		prostate(1)	skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(3982-3984)ACC>CCC		formin homology 2 domain containing 3							25.0	24.0	24.0					18																	34340703		2198	4297	6495	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34340703A>C	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3982A>C	18.37:g.34340703A>C	ENSP00000352186:p.Thr1328Pro					FHOD3_uc002kzs.1_Missense_Mutation_p.T1345P|FHOD3_uc010dmz.1_Missense_Mutation_p.T1060P|FHOD3_uc010dnb.1_Intron	p.T1328P	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			22	4079	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1328					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3982A>C		.	.	.	.	.	.	.	.	.	.	A	11.13	1.548235	0.27652	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.32988	1.44;1.43;1.44	3.65	2.48	0.30137	Actin-binding FH2/DRF autoregulatory (1);	0.429660	0.29730	N	0.011354	T	0.36826	0.0981	L	0.47716	1.5	0.37297	D	0.908503	D;D;P	0.58268	0.982;0.969;0.886	P;P;B	0.56612	0.802;0.638;0.429	T	0.20472	-1.0274	10	0.37606	T	0.19	.	8.4776	0.33023	0.8148:0.0:0.1852:0.0	.	1307;1328;1345	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	P	1345;1328;1307	ENSP00000257209:T1345P;ENSP00000352186:T1328P;ENSP00000411430:T1307P	ENSP00000257209:T1345P	T	+	1	0	FHOD3	32594701	0.029000	0.19370	0.828000	0.32881	0.446000	0.32137	0.803000	0.27083	0.259000	0.21709	-1.777000	0.00654	ACC		0.682	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		9	40	0	0	0	0	9	40				
EPG5	57724	broad.mit.edu	37	18	43496500	43496500	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:43496500G>A	ENST00000282041.5	-	18	3321	c.3287C>T	c.(3286-3288)cCt>cTt	p.P1096L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1096					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GACACCCTGAGGGACACCGCT	0.537																																						uc002lbm.2		NA																	0					0						c.(3286-3288)CCT>CTT		hypothetical protein LOC57724							67.0	70.0	69.0					18																	43496500		2069	4207	6276	SO:0001583	missense	57724				autophagy			g.chr18:43496500G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3287C>T	18.37:g.43496500G>A	ENSP00000282041:p.Pro1096Leu					KIAA1632_uc002lbo.1_Missense_Mutation_p.P1096L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_5'UTR	p.P1096L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			18	3387	-			1096					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3287C>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633868	0.47049	.	.	ENSG00000152223	ENST00000282041	T	0.10573	2.86	5.63	5.63	0.86233	.	0.354695	0.29417	N	0.012204	T	0.30355	0.0762	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.934;0.999	T	0.00295	-1.1839	10	0.30078	T	0.28	-17.8747	19.675	0.95928	0.0:0.0:1.0:0.0	.	1096;1096	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	1096	ENSP00000282041:P1096L	ENSP00000282041:P1096L	P	-	2	0	EPG5	41750498	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	7.726000	0.84824	2.657000	0.90304	0.563000	0.77884	CCT		0.537	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		14	36	0	0	0	0	14	36				
MBD1	4152	broad.mit.edu	37	18	47803478	47803478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:47803478C>G	ENST00000591416.1	-	3	638	c.207G>C	c.(205-207)ttG>ttC	p.L69F	MBD1_ENST00000269468.5_Missense_Mutation_p.L69F|MBD1_ENST00000269471.5_Missense_Mutation_p.L69F|MBD1_ENST00000585595.1_Missense_Mutation_p.L69F|MBD1_ENST00000457839.2_Missense_Mutation_p.L69F|MBD1_ENST00000347968.3_Missense_Mutation_p.L69F|MBD1_ENST00000398488.1_Missense_Mutation_p.L69F|MBD1_ENST00000436910.1_Missense_Mutation_p.L69F|MBD1_ENST00000424334.2_Missense_Mutation_p.L95F|MBD1_ENST00000349085.2_Missense_Mutation_p.L69F|MBD1_ENST00000339998.6_Missense_Mutation_p.L69F|MBD1_ENST00000398493.1_Missense_Mutation_p.L69F|MBD1_ENST00000353909.3_Missense_Mutation_p.L69F|MBD1_ENST00000398495.2_Missense_Mutation_p.L69F|MBD1_ENST00000588937.1_Missense_Mutation_p.L69F|MBD1_ENST00000590208.1_Missense_Mutation_p.L69F|MBD1_ENST00000587605.1_Missense_Mutation_p.L69F|MBD1_ENST00000382948.5_Missense_Mutation_p.L69F|MBD1_ENST00000585672.1_Missense_Mutation_p.L69F|MBD1_ENST00000591535.1_Missense_Mutation_p.L69F			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	69	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGATAGCACAAGATGCCTT	0.537																																						uc010dow.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(205-207)TTG>TTC		methyl-CpG binding domain protein 1 isoform 1							127.0	111.0	116.0					18																	47803478		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47803478C>G	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.207G>C	18.37:g.47803478C>G	ENSP00000467017:p.Leu69Phe					MBD1_uc002lef.2_5'Flank|MBD1_uc002leg.2_Missense_Mutation_p.L69F|MBD1_uc010xdi.1_Missense_Mutation_p.L95F|MBD1_uc002leh.3_Missense_Mutation_p.L69F|MBD1_uc002len.2_Missense_Mutation_p.L69F|MBD1_uc002lei.3_Missense_Mutation_p.L69F|MBD1_uc002lej.3_Missense_Mutation_p.L69F|MBD1_uc002lek.3_Missense_Mutation_p.L69F|MBD1_uc002lel.3_Missense_Mutation_p.L69F|MBD1_uc002lem.3_Missense_Mutation_p.L69F|MBD1_uc010xdj.1_Missense_Mutation_p.L69F|MBD1_uc010xdk.1_Missense_Mutation_p.L69F|MBD1_uc010dox.1_Missense_Mutation_p.L69F|MBD1_uc002leo.2_Missense_Mutation_p.L69F	p.L69F	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			3	644	-			69			MBD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.207G>C	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000465	0.54147	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05	4.74	-1.46	0.08800	Methyl-CpG DNA binding (3);DNA-binding, integrase-type (1);	0.148278	0.31246	N	0.007998	D	0.94748	0.8305	L	0.43152	1.355	0.31028	N	0.717724	D;D;D;D;D;D;D;P;D;P;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;0.999;0.607;1.0;0.812;1.0	D;D;D;D;D;D;D;B;D;P;D	0.97110	0.997;0.997;0.992;1.0;0.999;0.998;0.974;0.202;1.0;0.699;1.0	D	0.88770	0.3263	10	0.31617	T	0.26	-7.8618	0.8228	0.01115	0.2843:0.3507:0.1406:0.2244	.	69;95;69;69;69;69;69;69;69;69;69	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	F	69;69;69;69;69;69;69;95;69;69;69;69;69	ENSP00000372407:L69F;ENSP00000269469:L69F;ENSP00000342531:L69F;ENSP00000269468:L69F;ENSP00000285102:L69F;ENSP00000409561:L69F;ENSP00000269471:L69F;ENSP00000408846:L95F;ENSP00000339546:L69F;ENSP00000381508:L69F;ENSP00000405268:L69F;ENSP00000381506:L69F;ENSP00000381502:L69F	ENSP00000269468:L69F	L	-	3	2	MBD1	46057476	0.038000	0.19896	0.977000	0.42913	0.994000	0.84299	-0.247000	0.08866	-0.075000	0.12798	0.655000	0.94253	TTG		0.537	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		10	41	0	0	0	0	10	41				
ST8SIA3	51046	broad.mit.edu	37	18	55020099	55020099	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:55020099C>T	ENST00000324000.3	+	1	2056	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	8					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAAAATGGCCCGGGTCGCCAG	0.572																																						uc002lgn.2		NA																	0				breast(1)|skin(1)	2						c.(22-24)CGG>TGG		ST8 alpha-N-acetyl-neuraminide							47.0	48.0	48.0					18																	55020099		2203	4300	6503	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55020099C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.22C>T	18.37:g.55020099C>T	ENSP00000320431:p.Arg8Trp						p.R8W	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	1	379	+			8			Cytoplasmic (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.22C>T	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978973	0.92982	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.50277	0.75	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.69232	-0.5199	10	0.87932	D	0	.	16.1123	0.81271	0.0:1.0:0.0:0.0	.	8	O43173	SIA8C_HUMAN	W	115;8	ENSP00000320431:R8W	ENSP00000320431:R8W	R	+	1	2	ST8SIA3	53171097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.739000	0.74827	2.088000	0.63022	0.491000	0.48974	CGG		0.572	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		15	34	0	0	0	0	15	34				
MC4R	4160	broad.mit.edu	37	18	58039143	58039143	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:58039143C>A	ENST00000299766.3	-	1	858	c.440G>T	c.(439-441)aGg>aTg	p.R147M		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	147					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGTAAAGTACCTGTCCACTGC	0.433																																						uc002lie.1		NA																	0				lung(1)	1						c.(439-441)AGG>ATG		melanocortin 4 receptor							93.0	83.0	87.0					18																	58039143		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039143C>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.440G>T	18.37:g.58039143C>A	ENSP00000299766:p.Arg147Met						p.R147M	NM_005912	NP_005903	P32245	MC4R_HUMAN			1	859	-		Colorectal(73;0.0946)	147			Cytoplasmic (Potential).		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.440G>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351617	0.82132	.	.	ENSG00000166603	ENST00000299766	D	0.97186	-4.28	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98688	1.0695	10	0.87932	D	0	.	17.3327	0.87269	0.0:1.0:0.0:0.0	.	147	P32245	MC4R_HUMAN	M	147	ENSP00000299766:R147M	ENSP00000299766:R147M	R	-	2	0	MC4R	56190123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.703000	0.92315	0.655000	0.94253	AGG		0.433	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		13	49	1	0	5.51e-06	6.55e-06	13	49				
NETO1	81832	broad.mit.edu	37	18	70526311	70526311	+	Splice_Site	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:70526311T>A	ENST00000327305.6	-	4	878		c.e4-2		NETO1_ENST00000299430.2_Splice_Site|NETO1_ENST00000583169.1_Splice_Site|NETO1_ENST00000397929.1_Splice_Site|NETO1_ENST00000580049.1_Splice_Site	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTGGAGCGGCTGTAAAGAAGA	0.368																																						uc002lkw.2		NA																	0				ovary(2)|skin(2)	4						c.e4-1		neuropilin- and tolloid-like protein 1 isoform 3							52.0	52.0	52.0					18																	70526311		2203	4300	6503	SO:0001630	splice_region_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526311T>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.221-2A>T	18.37:g.70526311T>A						NETO1_uc002lkx.1_Splice_Site_p.A73_splice|NETO1_uc002lky.1_Splice_Site_p.A74_splice|NETO1_uc002lkz.2_Splice_Site_p.A73_splice	p.A74_splice	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	505	-		Esophageal squamous(42;0.129)						Q86W85|Q8ND78|Q8TDF4	Splice_Site	SNP	ENST00000327305.6	37	c.221_splice	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869547	0.72065	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9955	0.71428	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NETO1	68677291	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	7.943000	0.87716	2.003000	0.58678	0.482000	0.46254	.		0.368	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Intron	9	48	0	0	0	0	9	48				
ZNF407	55628	broad.mit.edu	37	18	72344576	72344576	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr18:72344576G>T	ENST00000299687.5	+	1	1601	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V	ZNF407_ENST00000582337.1_Missense_Mutation_p.G534V|ZNF407_ENST00000577538.1_Missense_Mutation_p.G534V|ZNF407_ENST00000309902.6_Missense_Mutation_p.G534V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACAGACTGTGGGCAAGTAGCT	0.517																																						uc002llw.2		NA																	0				ovary(2)	2						c.(1600-1602)GGG>GTG		zinc finger protein 407 isoform 1							162.0	172.0	169.0					18																	72344576		1997	4161	6158	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344576G>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1601G>T	18.37:g.72344576G>T	ENSP00000299687:p.Gly534Val					ZNF407_uc010xfc.1_Missense_Mutation_p.G534V|ZNF407_uc010dqu.1_Missense_Mutation_p.G534V|ZNF407_uc002llu.2_Missense_Mutation_p.G533V	p.G534V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1658	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	534			C2H2-type 4.		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.1601G>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560659	0.65538	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.12879	2.64;3.05	5.9	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.41823	U	0.000809	T	0.36441	0.0967	H	0.95850	3.73	0.23773	N	0.996884	D;P;D	0.63046	0.992;0.956;0.972	P;P;P	0.57502	0.822;0.656;0.669	T	0.45498	-0.9257	10	0.87932	D	0	.	2.1364	0.03763	0.1988:0.2502:0.4221:0.1289	.	534;534;534	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	V	534	ENSP00000299687:G534V;ENSP00000310359:G534V	ENSP00000299687:G534V	G	+	2	0	ZNF407	70473564	0.998000	0.40836	0.373000	0.26003	0.211000	0.24417	2.018000	0.40991	-0.526000	0.06383	0.650000	0.86243	GGG		0.517	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		71	183	1	0	4.61e-44	7.01e-44	71	183				
SGTA	6449	broad.mit.edu	37	19	2757733	2757734	+	Missense_Mutation	DNP	CC	CC	AA	rs373418482		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:2757733_2757734CC>AA	ENST00000221566.2	-	10	945_946	c.784_785GG>TT	c.(784-786)GGc>TTc	p.G262F		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	262					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCTGGTGCCGGGAGTTCCC	0.678																																						uc002lwi.1		NA																	0				ovary(1)	1						c.(784-786)GGC>TTC		small glutamine-rich tetratricopeptide																																				SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2757733_2757734CC>AA	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.784_785delinsAA	19.37:g.2757733_2757734delinsAA	ENSP00000221566:p.Gly262Phe						p.G262F	NM_003021	NP_003012	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	931_932	-		Hepatocellular(1079;0.137)	262					D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	DNP	ENST00000221566.2	37	c.784_785GG>TT	CCDS12094.1																																																																																				0.678	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		4	7	0	0	0	0	4	7				
CHAF1A	10036	broad.mit.edu	37	19	4442304	4442304	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:4442304C>T	ENST00000301280.5	+	14	2837	c.2736C>T	c.(2734-2736)ggC>ggT	p.G912G		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	912	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		aggaggaggGCGACTGTATGA	0.592								Chromatin Structure																														uc002mal.2		NA																	0				ovary(1)|skin(1)	2						c.(2734-2736)GGC>GGT	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)							129.0	88.0	102.0					19																	4442304		2203	4300	6503	SO:0001819	synonymous_variant	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4442304C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2736C>T	19.37:g.4442304C>T							p.G912G	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	14	2836	+		Hepatocellular(1079;0.137)	912			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	c.2736C>T	CCDS32875.1																																																																																				0.592	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		7	13	0	0	0	0	7	13				
MLLT1	4298	broad.mit.edu	37	19	6230694	6230694	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:6230694C>T	ENST00000252674.7	-	4	470	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	103	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGAACAGGTCGTAGGTGAAG	0.582			T	MLL	AL																																	uc002mek.2		NA		Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				skin(1)	1						c.(307-309)GAC>AAC		myeloid/lymphoid or mixed-lineage leukemia							169.0	169.0	169.0					19																	6230694		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230694C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.307G>A	19.37:g.6230694C>T	ENSP00000252674:p.Asp103Asn						p.D103N	NM_005934	NP_005925	Q03111	ENL_HUMAN			4	471	-			103			YEATS.		Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.307G>A	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124299	0.94429	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.73489	0.3593	M	0.72576	2.205	0.80722	D	1	P	0.38535	0.635	P	0.50896	0.653	T	0.76772	-0.2836	9	0.66056	D	0.02	-40.5827	16.3961	0.83605	0.0:1.0:0.0:0.0	.	103	Q03111	ENL_HUMAN	N	103	.	ENSP00000252674:D103N	D	-	1	0	MLLT1	6181694	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	7.514000	0.81750	2.427000	0.82271	0.655000	0.94253	GAC		0.582	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		46	99	0	0	0	0	46	99				
MUC16	94025	broad.mit.edu	37	19	8969277	8969277	+	Splice_Site	SNP	G	G	T	rs191810418	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:8969277G>T	ENST00000397910.4	-	79	43270	c.43067C>A	c.(43066-43068)gCg>gAg	p.A14356E	MUC16_ENST00000380951.5_Splice_Site_p.A997E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14452	SEA 15. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTTCTCACCGCATCCTCAAT	0.468																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(43066-43068)GCG>GAG		mucin 16							221.0	211.0	214.0					19																	8969277		1998	4170	6168	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8969277G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43068+1C>A	19.37:g.8969277G>T						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.A1156E|MUC16_uc010xki.1_RNA	p.A14356E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			79	43271	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43067C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.818|7.818	0.717232|0.717232	0.15372|0.15372	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.38077|.	1.16;1.16|.	4.3|4.3	2.15|2.15	0.27550|0.27550	SEA (3);|.	0.454268|.	0.16394|.	N|.	0.216341|.	T|T	0.66228|0.66228	0.2768|0.2768	M|M	0.88570|0.88570	2.965|2.965	.|.	.|.	.|.	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.72629|0.72629	-0.4235|-0.4235	9|4	0.18710|.	T|.	0.47|.	.|.	6.758|6.758	0.23524|0.23524	0.2158:0.0:0.7842:0.0|0.2158:0.0:0.7842:0.0	.|.	22001;14356|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	E|S	14356;997|1179	ENSP00000381008:A14356E;ENSP00000370338:A997E|.	ENSP00000370338:A997E|.	A|R	-|-	2|1	0|0	MUC16|MUC16	8830277|8830277	0.981000|0.981000	0.34729|0.34729	0.626000|0.626000	0.29213|0.29213	0.023000|0.023000	0.10783|0.10783	1.451000|1.451000	0.35145|0.35145	0.572000|0.572000	0.29383|0.29383	-0.136000|-0.136000	0.14681|0.14681	GCG|CGC		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	21	61	1	0	3.84e-06	4.59e-06	21	61				
MUC16	94025	broad.mit.edu	37	19	9059669	9059669	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:9059669G>T	ENST00000397910.4	-	3	27980	c.27777C>A	c.(27775-27777)ccC>ccA	p.P9259P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9261	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCTCCTGTGGGGTAGGTGA	0.468																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27775-27777)CCC>CCA		mucin 16							95.0	95.0	95.0					19																	9059669		2066	4214	6280	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059669G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27777C>A	19.37:g.9059669G>T							p.P9259P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27981	-			9261			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.27777C>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		32	43	1	0	3.99e-17	5.73e-17	32	43				
ZNF560	147741	broad.mit.edu	37	19	9578043	9578043	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:9578043G>A	ENST00000301480.4	-	10	1793	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACAGGCAGAAGAGGTAAATGG	0.398																																						uc002mlp.1		NA																	0				skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1579-1581)TCT>TTT		zinc finger protein 560							104.0	105.0	105.0					19																	9578043		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578043G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1580C>T	19.37:g.9578043G>A	ENSP00000301480:p.Ser527Phe					ZNF560_uc010dwr.1_Missense_Mutation_p.S421F	p.S527F	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1790	-			527			C2H2-type 7.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1580C>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.065940	0.00382	.	.	ENSG00000198028	ENST00000301480	T	0.20463	2.07	1.95	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10252	0.0251	L	0.37507	1.11	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.41106	-0.9527	9	0.11794	T	0.64	.	0.119	0.00063	0.2529:0.223:0.1779:0.3462	.	527	Q96MR9	ZN560_HUMAN	F	527	ENSP00000301480:S527F	ENSP00000301480:S527F	S	-	2	0	ZNF560	9439043	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-9.241000	0.00012	-2.445000	0.00547	-0.424000	0.05967	TCT		0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		36	35	0	0	0	0	36	35				
PIK3R2	5296	broad.mit.edu	37	19	18278076	18278076	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:18278076G>T	ENST00000593731.1	+	13	2256	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	PIK3R2_ENST00000222254.8_Missense_Mutation_p.D566Y			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	566					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CCTCAAGCCGGACCTCATGCA	0.622																																						uc002nia.1		NA																	0				lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1696-1698)GAC>TAC		phosphoinositide-3-kinase, regulatory subunit 2							80.0	85.0	84.0					19																	18278076		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18278076G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1696G>T	19.37:g.18278076G>T	ENSP00000471914:p.Asp566Tyr					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.D566Y	NM_005027	NP_005018	O00459	P85B_HUMAN			13	2208	+			566					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1696G>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516111	0.85495	.	.	ENSG00000105647	ENST00000222254	T	0.34472	1.36	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71328	-0.4626	10	0.87932	D	0	-45.8168	16.4813	0.84158	0.0:0.0:1.0:0.0	.	566	O00459	P85B_HUMAN	Y	566	ENSP00000222254:D566Y	ENSP00000222254:D566Y	D	+	1	0	PIK3R2	18139076	1.000000	0.71417	0.930000	0.37139	0.924000	0.55760	9.667000	0.98616	2.288000	0.76882	0.561000	0.74099	GAC		0.622	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		16	42	1	0	6.94e-10	9.11e-10	16	42				
ZNF253	56242	broad.mit.edu	37	19	20002666	20002666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:20002666G>T	ENST00000589717.1	+	4	702	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Nonsense_Mutation_p.E128*|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	204					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGATGTGAAGAATGTGGCAA	0.373																																						uc002noj.2		NA																	0					0						c.(610-612)GAA>TAA		zinc finger protein 253							36.0	39.0	38.0					19																	20002666		2166	4278	6444	SO:0001587	stop_gained	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002666G>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.610G>T	19.37:g.20002666G>T	ENSP00000468720:p.Glu204*					ZNF253_uc002nok.2_Nonsense_Mutation_p.E128*|ZNF253_uc002nol.2_RNA	p.E204*	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	702	+			204			C2H2-type 2.		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Nonsense_Mutation	SNP	ENST00000589717.1	37	c.610G>T	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.222061	0.39300	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	-1.63	0.08345	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.2041	0.03931	0.3033:0.3393:0.3573:0.0	.	.	.	.	X	204	.	.	E	+	1	0	ZNF253	19863666	0.000000	0.05858	0.113000	0.21522	0.114000	0.19823	-2.350000	0.01092	0.293000	0.22520	0.298000	0.19748	GAA		0.373	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		11	28	1	0	5.17e-11	6.89e-11	11	28				
ZNF99	7652	broad.mit.edu	37	19	22940345	22940345	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:22940345T>A	ENST00000596209.1	-	4	2456	c.2366A>T	c.(2365-2367)tAt>tTt	p.Y789F	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.Y698F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	789					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTATAGGGTTTCTT	0.353																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(2092-2094)TAT>TTT		zinc finger protein 99							34.0	37.0	36.0					19																	22940345		2017	4188	6205	SO:0001583	missense	7652							g.chr19:22940345T>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2366A>T	19.37:g.22940345T>A	ENSP00000472969:p.Tyr789Phe						p.Y698F	NM_001080409	NP_001073878					5	2093	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2093A>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	8.234	0.805225	0.16467	.	.	ENSG00000213973	ENST00000397104	T	0.18338	2.22	1.26	0.0707	0.14379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18383	0.0441	L	0.31120	0.905	0.09310	N	1	P	0.50943	0.94	P	0.58721	0.844	T	0.12734	-1.0536	9	0.41790	T	0.15	.	2.0185	0.03504	0.259:0.1849:0.0:0.5561	.	698	A8MXY4	ZNF99_HUMAN	F	698	ENSP00000380293:Y698F	ENSP00000380293:Y698F	Y	-	2	0	ZNF99	22732185	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.258000	0.18387	-0.232000	0.09811	0.313000	0.20887	TAT		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		14	30	0	0	0	0	14	30				
ZNF99	7652	broad.mit.edu	37	19	22940512	22940512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:22940512G>T	ENST00000596209.1	-	4	2289	c.2199C>A	c.(2197-2199)taC>taA	p.Y733*	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Nonsense_Mutation_p.Y642*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	733					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTTCACATTTGTAGGGTTTCT	0.378																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1924-1926)TAC>TAA		zinc finger protein 99							29.0	30.0	30.0					19																	22940512		1927	4094	6021	SO:0001587	stop_gained	7652							g.chr19:22940512G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2199C>A	19.37:g.22940512G>T	ENSP00000472969:p.Tyr733*						p.Y642*	NM_001080409	NP_001073878					5	1926	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Nonsense_Mutation	SNP	ENST00000596209.1	37	c.1926C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	14.73	2.622190	0.46840	.	.	ENSG00000213973	ENST00000397104	.	.	.	0.726	-1.45	0.08828	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6106	0.17404	0.526:0.0:0.474:0.0	.	.	.	.	X	642	.	ENSP00000380293:Y642X	Y	-	3	2	ZNF99	22732352	0.000000	0.05858	0.018000	0.16275	0.153000	0.21895	-1.595000	0.02093	-0.613000	0.05694	0.400000	0.26472	TAC		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	34	1	0	5.94e-07	7.29e-07	5	34				
TIMM50	92609	broad.mit.edu	37	19	39976376	39976376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:39976376G>T	ENST00000607714.1	+	6	443	c.421G>T	c.(421-423)Gaa>Taa	p.E141*	TIMM50_ENST00000544017.1_Nonsense_Mutation_p.E28*|TIMM50_ENST00000314349.4_Nonsense_Mutation_p.E244*|TIMM50_ENST00000599794.1_Intron			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	141					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCTCTGCAGGAACCGTACTA	0.627																																						uc002olu.1		NA																	0				ovary(1)	1						c.(730-732)GAA>TAA		translocase of inner mitochondrial membrane 50							98.0	75.0	83.0					19																	39976376		2203	4300	6503	SO:0001587	stop_gained	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39976376G>T	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.421G>T	19.37:g.39976376G>T	ENSP00000475531:p.Glu141*					TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR	p.E244*	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		6	863	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		141			Mitochondrial intermembrane (Potential).		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Nonsense_Mutation	SNP	ENST00000607714.1	37	c.730G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.177952	0.98114	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	4.98	4.98	0.66077	.	0.052561	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.6515	17.1668	0.86818	0.0:0.0:1.0:0.0	.	.	.	.	X	244;28	.	.	E	+	1	0	TIMM50	44668216	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.148000	0.94652	2.576000	0.86940	0.561000	0.74099	GAA		0.627	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		16	75	1	0	6.5e-13	8.92e-13	16	75				
LGALS13	29124	broad.mit.edu	37	19	40095319	40095319	+	Splice_Site	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40095319G>C	ENST00000221797.4	+	2	137		c.e2+1			NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13						apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ACTCTTTTATGTGAGTACTCC	0.453																																						uc002omb.2		NA																	0				ovary(1)	1						c.e2+1		galectin-13							159.0	140.0	147.0					19																	40095319		2203	4300	6503	SO:0001630	splice_region_variant	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095319G>C	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.92+1G>C	19.37:g.40095319G>C							p.I31_splice	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		2	132	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)							C5HZ15	Splice_Site	SNP	ENST00000221797.4	37	c.92_splice	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	3.192	-0.165522	0.06461	.	.	ENSG00000105198	ENST00000221797	.	.	.	0.817	0.817	0.18773	.	.	.	.	.	.	.	.	.	.	.	0.21967	N	0.999447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9365	0.13943	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGALS13	44787159	0.008000	0.16893	0.011000	0.14972	0.062000	0.15995	0.383000	0.20651	0.710000	0.31997	0.313000	0.20887	.		0.453	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268	Intron	39	114	0	0	0	0	39	114				
CLC	1178	broad.mit.edu	37	19	40222130	40222130	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40222130G>T	ENST00000221804.4	-	4	394	c.319C>A	c.(319-321)Caa>Aaa	p.Q107K		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	107	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TAAGAGGATTGGCCATTGACC	0.413																																						uc002omh.2		NA																	0					0						c.(319-321)CAA>AAA		Charcot-Leyden crystal protein							151.0	148.0	149.0					19																	40222130		2203	4300	6503	SO:0001583	missense	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40222130G>T	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.319C>A	19.37:g.40222130G>T	ENSP00000221804:p.Gln107Lys						p.Q107K	NM_001828	NP_001819	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	4	395	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	107			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	c.319C>A	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.628170	0.00813	.	.	ENSG00000105205	ENST00000221804	T	0.04917	3.53	0.659	0.659	0.17861	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.07098	0.0180	L	0.61218	1.895	0.09310	N	1	B	0.18461	0.028	B	0.22386	0.039	T	0.44559	-0.9320	8	0.12430	T	0.62	.	.	.	.	.	107	Q05315	LPPL_HUMAN	K	107	ENSP00000221804:Q107K	ENSP00000221804:Q107K	Q	-	1	0	CLC	44913970	0.004000	0.15560	0.165000	0.22776	0.129000	0.20672	-0.118000	0.10692	0.608000	0.30000	0.187000	0.17357	CAA		0.413	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		40	154	1	0	4.07e-28	6.06e-28	40	154				
FCGBP	8857	broad.mit.edu	37	19	40357440	40357440	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:40357440C>A	ENST00000221347.6	-	34	15880	c.15873G>T	c.(15871-15873)gtG>gtT	p.V5291V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5291	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACCTGGCCCACAGCCTCCG	0.547																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15871-15873)GTG>GTT		Fc fragment of IgG binding protein precursor							118.0	111.0	113.0					19																	40357440		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40357440C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15873G>T	19.37:g.40357440C>A							p.V5291V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15881	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5291			VWFD 13.		O95784	Silent	SNP	ENST00000221347.6	37	c.15873G>T	CCDS12546.1																																																																																				0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		21	71	1	0	1.26e-06	1.54e-06	21	71				
CEACAM7	1087	broad.mit.edu	37	19	42187951	42187951	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:42187951C>A	ENST00000006724.3	-	3	672	c.471G>T	c.(469-471)ccG>ccT	p.P157P	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Silent_p.P157P|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000599715.1_5'Flank	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	157	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGTTCTCCACCGGATTGAAGT	0.522																																						uc002ori.1		NA																	0				ovary(2)	2						c.(469-471)CCG>CCT		carcinoembryonic antigen-related cell adhesion							151.0	149.0	149.0					19																	42187951		2203	4300	6503	SO:0001819	synonymous_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187951C>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.471G>T	19.37:g.42187951C>A						CEACAM7_uc010ehx.2_Silent_p.P157P|CEACAM7_uc010ehy.1_Intron	p.P157P	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	473	-			157			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	c.471G>T	CCDS12583.1																																																																																				0.522	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		43	114	1	0	1.15e-24	1.7e-24	43	114				
ARHGEF1	9138	broad.mit.edu	37	19	42406968	42406968	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:42406968A>T	ENST00000354532.3	+	18	1806	c.1658A>T	c.(1657-1659)cAg>cTg	p.Q553L	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.Q609L|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.Q520L|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.Q535L|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.Q568L	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	553	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CGCCGCCTGCAGCTGAAGGAC	0.662																																						uc002orx.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1657-1659)CAG>CTG		Rho guanine nucleotide exchange factor 1 isoform							41.0	45.0	44.0					19																	42406968		2202	4297	6499	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42406968A>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1658A>T	19.37:g.42406968A>T	ENSP00000346532:p.Gln553Leu					ARHGEF1_uc002ory.2_Missense_Mutation_p.Q520L|ARHGEF1_uc002orz.2_Missense_Mutation_p.Q391L|ARHGEF1_uc002osa.2_Missense_Mutation_p.Q568L|ARHGEF1_uc002osb.2_Missense_Mutation_p.Q535L|ARHGEF1_uc002osc.2_Missense_Mutation_p.Q307L|ARHGEF1_uc002osd.2_Missense_Mutation_p.Q212L|ARHGEF1_uc002ose.2_5'UTR	p.Q553L	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	18	1767	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	553			DH.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.1658A>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626997	0.87560	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.53	4.53	0.55603	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	D	0.82646	0.5082	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.83275	0.991;0.996;0.994;0.987;0.988	D	0.85677	0.1298	10	0.87932	D	0	-32.0942	12.1347	0.53964	1.0:0.0:0.0:0.0	.	212;535;568;520;553	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	L	553;520;568;535	ENSP00000346532:Q553L;ENSP00000344429:Q520L;ENSP00000337261:Q568L;ENSP00000367394:Q535L	ENSP00000337261:Q568L	Q	+	2	0	ARHGEF1	47098808	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.956000	0.93066	1.816000	0.52996	0.374000	0.22700	CAG		0.662	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		23	60	0	0	0	0	23	60				
PSG11	5680	broad.mit.edu	37	19	43529172	43529172	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:43529172G>T	ENST00000401740.1	-	2	204	c.101C>A	c.(100-102)gCc>gAc	p.A34D	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A34D			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	34					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CATGACTTGGGCAGTGGTAGG	0.478																																						uc002ovh.1		NA																	0				ovary(1)|skin(1)	2						c.(118-120)GCC>GAC		SubName: Full=Putative uncharacterized protein PSG6;							183.0	188.0	186.0					19																	43529172		2199	4295	6494	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43529172G>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.101C>A	19.37:g.43529172G>T	ENSP00000384995:p.Ala34Asp					PSG11_uc002ouw.2_Missense_Mutation_p.A40D|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A40D|PSG11_uc002ovm.1_Missense_Mutation_p.A34D|PSG11_uc002ovn.1_Missense_Mutation_p.A40D|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron	p.A40D			Q00889	PSG6_HUMAN			2	208	-		Prostate(69;0.00899)	34					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.119C>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	g	12.30	1.895791	0.33442	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.40476	1.03;1.03	0.929	0.929	0.19449	.	.	.	.	.	T	0.63780	0.2540	M	0.88105	2.93	0.09310	N	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.48736	-0.9009	9	0.87932	D	0	.	5.2086	0.15304	0.0:0.0:1.0:0.0	.	34	Q9UQ72	PSG11_HUMAN	D	34	ENSP00000319140:A34D;ENSP00000384995:A34D	ENSP00000319140:A34D	A	-	2	0	PSG11	48221012	0.086000	0.21541	0.035000	0.18076	0.008000	0.06430	0.839000	0.27586	0.795000	0.33922	0.184000	0.17185	GCC		0.478	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		64	189	1	0	8.82e-31	1.32e-30	64	189				
ZNF222	7673	broad.mit.edu	37	19	44536052	44536052	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:44536052A>G	ENST00000187879.8	+	4	387	c.225A>G	c.(223-225)caA>caG	p.Q75Q	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.Q115Q	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TTTGGGAACAAATTGCAAGTG	0.403																																						uc002oyc.2		NA																	0				ovary(3)	3						c.(223-225)CAA>CAG		zinc finger protein 222 isoform 2							98.0	96.0	96.0					19																	44536052		2203	4300	6503	SO:0001819	synonymous_variant	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536052A>G	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.225A>G	19.37:g.44536052A>G						ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Silent_p.Q115Q|ZNF222_uc002oyd.2_Silent_p.Q21Q	p.Q75Q	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	408	+		Prostate(69;0.0435)	75			KRAB.		G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP	ENST00000187879.8	37	c.225A>G	CCDS33045.1																																																																																				0.403	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			21	54	0	0	0	0	21	54				
ZNF285	26974	broad.mit.edu	37	19	44890987	44890987	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:44890987G>T	ENST00000330997.4	-	4	1484	c.1420C>A	c.(1420-1422)Cat>Aat	p.H474N	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.H481N|ZNF285_ENST00000544719.2_Missense_Mutation_p.H474N	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTCTCTGATGAGTGTGAAGA	0.398																																						uc002ozd.3		NA																	0				ovary(2)|skin(2)	4						c.(1420-1422)CAT>AAT		zinc finger protein 285							87.0	89.0	89.0					19																	44890987		2203	4300	6503	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44890987G>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1420C>A	19.37:g.44890987G>T	ENSP00000333595:p.His474Asn					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.H481N	p.H474N	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	1507	-			474			C2H2-type 8.		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1420C>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486525	0.63962	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	D	0.86865	-2.18	3.36	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95850	0.8649	H	0.97829	4.085	0.31013	N	0.719006	D;D	0.89917	1.0;0.979	D;P	0.87578	0.998;0.862	D	0.93971	0.7249	9	0.87932	D	0	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	498;474	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	N	497;474	ENSP00000333595:H474N	ENSP00000333595:H474N	H	-	1	0	ZNF285	49582827	1.000000	0.71417	0.966000	0.40874	0.961000	0.63080	4.047000	0.57383	1.598000	0.50083	0.298000	0.19748	CAT		0.398	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		30	75	1	0	7.26e-15	1.01e-14	30	75				
IGFL4	444882	broad.mit.edu	37	19	46543550	46543550	+	Missense_Mutation	SNP	G	G	T	rs376003284		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:46543550G>T	ENST00000377697.1	-	3	248	c.195C>A	c.(193-195)agC>agA	p.S65R	IGFL4_ENST00000595006.1_5'Flank|IGFL4_ENST00000601672.1_De_novo_Start_OutOfFrame	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	65						extracellular space (GO:0005615)				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AGAAGGTGCAGCTGGAGCCGC	0.597																																						uc002pdy.1		NA																	0					0						c.(193-195)AGC>AGA		IGF-like family member 4 precursor							44.0	46.0	46.0					19																	46543550		2203	4300	6503	SO:0001583	missense	444882					extracellular region		g.chr19:46543550G>T	AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.195C>A	19.37:g.46543550G>T	ENSP00000366926:p.Ser65Arg						p.S65R	NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	3	249	-		all_neural(266;0.113)|Ovarian(192;0.127)	65						Missense_Mutation	SNP	ENST00000377697.1	37	c.195C>A	CCDS33057.1	.	.	.	.	.	.	.	.	.	.	G	8.899	0.955909	0.18507	.	.	ENSG00000204869	ENST00000377697	T	0.23147	1.92	2.28	-0.0492	0.13836	.	0.894418	0.09239	N	0.829520	T	0.13543	0.0328	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28964	-1.0027	10	0.39692	T	0.17	.	3.1387	0.06448	0.1849:0.2856:0.5295:0.0	.	65	Q6B9Z1	IGFL4_HUMAN	R	65	ENSP00000366926:S65R	ENSP00000366926:S65R	S	-	3	2	IGFL4	51235390	0.000000	0.05858	0.003000	0.11579	0.074000	0.17049	-0.622000	0.05553	0.079000	0.16929	0.388000	0.25769	AGC		0.597	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461698.1	NM_001002923		20	53	1	0	8.81e-21	1.28e-20	20	53				
DHX34	9704	broad.mit.edu	37	19	47884120	47884120	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:47884120G>T	ENST00000328771.4	+	15	3379	c.3030G>T	c.(3028-3030)atG>atT	p.M1010I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1010					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCCAGAACATGTATGTGGGAC	0.602																																						uc010xyn.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(3028-3030)ATG>ATT		DEAH (Asp-Glu-Ala-His) box polypeptide 34							105.0	100.0	102.0					19																	47884120		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47884120G>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3030G>T	19.37:g.47884120G>T	ENSP00000331907:p.Met1010Ile					DHX34_uc010xyo.1_Missense_Mutation_p.M139I	p.M1010I	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	15	3371	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	1010					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.3030G>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	8.228	0.804035	0.16467	.	.	ENSG00000134815	ENST00000328771	T	0.02258	4.37	4.76	2.55	0.30701	.	0.126121	0.34223	N	0.004150	T	0.01092	0.0036	N	0.01874	-0.695	0.24208	N	0.995487	B	0.02656	0.0	B	0.04013	0.001	T	0.48210	-0.9055	10	0.40728	T	0.16	-30.1361	8.9622	0.35854	0.152:0.527:0.3209:0.0	.	1010	Q14147	DHX34_HUMAN	I	1010	ENSP00000331907:M1010I	ENSP00000331907:M1010I	M	+	3	0	DHX34	52575951	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	0.948000	0.29096	0.569000	0.29329	-0.502000	0.04539	ATG		0.602	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		17	67	1	0	3.57e-18	5.17e-18	17	67				
ZNF350	59348	broad.mit.edu	37	19	52468462	52468462	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:52468462G>A	ENST00000243644.4	-	5	1471	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	415					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AACCAGACACGACATATACGC	0.473																																						uc002pyd.2		NA																	0				breast(1)	1						c.(1243-1245)TCG>TTG		zinc finger protein 350							86.0	79.0	81.0					19																	52468462		2203	4300	6503	SO:0001583	missense	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468462G>A	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1244C>T	19.37:g.52468462G>A	ENSP00000243644:p.Ser415Leu					uc002pyb.2_Intron|uc002pyc.2_Intron	p.S415L	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1472	-		all_neural(266;0.0505)	415			C2H2-type 8.		Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	c.1244C>T	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195727	0.22037	.	.	ENSG00000256683	ENST00000243644	T	0.36699	1.24	3.2	2.1	0.27182	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35179	N	0.003395	T	0.27313	0.0670	L	0.52573	1.65	0.09310	N	1	B	0.29955	0.263	B	0.20955	0.032	T	0.22836	-1.0205	10	0.72032	D	0.01	.	7.3207	0.26526	0.0:0.1854:0.6244:0.1902	.	415	Q9GZX5	ZN350_HUMAN	L	415	ENSP00000243644:S415L	ENSP00000243644:S415L	S	-	2	0	ZNF350	57160274	0.011000	0.17503	0.001000	0.08648	0.292000	0.27327	0.759000	0.26461	0.656000	0.30886	0.591000	0.81541	TCG		0.473	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		21	49	0	0	0	0	21	49				
ZNF350	59348	broad.mit.edu	37	19	52468703	52468703	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:52468703C>T	ENST00000243644.4	-	5	1230	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	335					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CTCTGATGTGCTATGAGACAC	0.393																																						uc002pyd.2		NA																	0				breast(1)	1						c.(1003-1005)GCA>ACA		zinc finger protein 350							102.0	93.0	96.0					19																	52468703		2203	4300	6503	SO:0001583	missense	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468703C>T	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1003G>A	19.37:g.52468703C>T	ENSP00000243644:p.Ala335Thr					uc002pyb.2_Intron|uc002pyc.2_Intron	p.A335T	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1231	-		all_neural(266;0.0505)	335			C2H2-type 5.		Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	c.1003G>A	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	1.390	-0.581155	0.03854	.	.	ENSG00000256683	ENST00000243644	T	0.18174	2.23	3.41	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.454048	0.16436	N	0.214501	T	0.10165	0.0249	N	0.11106	0.095	0.09310	N	1	D	0.64830	0.994	P	0.59889	0.865	T	0.26849	-1.0091	10	0.13470	T	0.59	.	0.74	0.00972	0.2258:0.2213:0.134:0.4189	.	335	Q9GZX5	ZN350_HUMAN	T	335	ENSP00000243644:A335T	ENSP00000243644:A335T	A	-	1	0	ZNF350	57160515	0.000000	0.05858	0.002000	0.10522	0.502000	0.33828	-1.685000	0.01930	-0.091000	0.12440	0.591000	0.81541	GCA		0.393	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		19	68	0	0	0	0	19	68				
TMC4	147798	broad.mit.edu	37	19	54668180	54668180	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:54668180G>A	ENST00000376591.4	-	7	1250	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Silent_p.T367T|TMC4_ENST00000416963.1_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	373					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAGCTCCACGGTGCACCCCG	0.632																																						uc010erf.2		NA																	0				pancreas(1)	1						c.(1117-1119)ACC>ACT		transmembrane channel-like 4 isoform 1							85.0	88.0	87.0					19																	54668180		2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54668180G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1119C>T	19.37:g.54668180G>A						TMC4_uc002qdn.2_Missense_Mutation_p.R64C|TMC4_uc002qdo.2_Silent_p.T367T	p.T373T	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			7	1251	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		373			Cytoplasmic (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.1119C>T	CCDS46174.1																																																																																				0.632	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			55	134	0	0	0	0	55	134				
LAIR1	3903	broad.mit.edu	37	19	54867571	54867571	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:54867571C>A	ENST00000391742.2	-	9	861	c.709G>T	c.(709-711)Gac>Tac	p.D237Y	LAIR1_ENST00000434277.2_Missense_Mutation_p.D236Y|LAIR1_ENST00000313038.6_Missense_Mutation_p.D230Y|CTD-2587H19.1_ENST00000596234.1_lincRNA|LAIR1_ENST00000463489.1_5'Flank|LAIR1_ENST00000391743.3_Missense_Mutation_p.D219Y|LAIR1_ENST00000348231.4_Missense_Mutation_p.D220Y|LAIR1_ENST00000474878.1_Missense_Mutation_p.D219Y			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	237					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACCGAGGTGTCCGTCTCTCTG	0.468																																						uc002qfk.1		NA																	0				ovary(4)	4						c.(709-711)GAC>TAC		leukocyte-associated immunoglobulin-like							131.0	128.0	129.0					19																	54867571		2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54867571C>A	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.709G>T	19.37:g.54867571C>A	ENSP00000375622:p.Asp237Tyr					LAIR1_uc002qfl.1_Missense_Mutation_p.D220Y|LAIR1_uc002qfm.1_Missense_Mutation_p.D236Y|LAIR1_uc002qfn.1_Missense_Mutation_p.D219Y|LAIR1_uc010yex.1_Missense_Mutation_p.D230Y|LAIR1_uc002qfo.2_Missense_Mutation_p.D219Y	p.D237Y	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	9	1019	-	Ovarian(34;0.19)		237			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000391742.2	37	c.709G>T	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	11.46	1.646751	0.29246	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	T;T;T;T;T;T	0.00584	6.4;6.58;6.6;6.57;6.55;6.55	3.86	-1.47	0.08772	.	1.383690	0.04829	N	0.438416	T	0.01061	0.0035	M	0.66297	2.02	0.09310	N	1	P;P;P;P;P	0.47302	0.893;0.834;0.697;0.662;0.855	B;B;B;P;B	0.45610	0.415;0.382;0.293;0.487;0.288	T	0.44922	-0.9296	10	0.87932	D	0	.	5.3258	0.15905	0.0:0.4939:0.2968:0.2093	.	219;219;236;220;237	A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;LAIR1_HUMAN	Y	219;237;236;220;230;219	ENSP00000375623:D219Y;ENSP00000375622:D237Y;ENSP00000391003:D236Y;ENSP00000301193:D220Y;ENSP00000319204:D230Y;ENSP00000418998:D219Y	ENSP00000319204:D230Y	D	-	1	0	LAIR1	59559383	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.000000	0.12993	-0.111000	0.12001	-0.254000	0.11334	GAC		0.468	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			24	81	1	0	7.44e-23	1.1e-22	24	81				
LILRA2	11027	broad.mit.edu	37	19	55087020	55087020	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55087020G>T	ENST00000251377.3	+	6	1085		c.e6+1		LILRA2_ENST00000391738.3_Splice_Site|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Splice_Site|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Splice_Site|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2						defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTGATCACAGGTGAGGAGCCC	0.662																																						uc002qgg.3		NA																	0				ovary(1)	1						c.e5+1		leukocyte immunoglobulin-like receptor,							29.0	34.0	33.0					19																	55087020		2196	4289	6485	SO:0001630	splice_region_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55087020G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.952+1G>T	19.37:g.55087020G>T						LILRA2_uc010ern.2_Splice_Site_p.G318_splice|LILRA2_uc002qgf.2_Splice_Site_p.G318_splice|LILRA2_uc010yfe.1_Splice_Site_p.G318_splice|LILRA2_uc010yff.1_Splice_Site_p.G306_splice|LILRA2_uc010ero.2_Splice_Site_p.G306_splice|LILRA2_uc010yfg.1_Intron	p.G318_splice	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	5	1041	+								O75020	Splice_Site	SNP	ENST00000251377.3	37	c.952_splice	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228809	0.39399	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	.	.	.	2.83	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3039	0.37863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LILRA2	59778832	0.991000	0.36638	0.846000	0.33378	0.355000	0.29361	2.186000	0.42593	1.583000	0.49898	0.502000	0.49764	.		0.662	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		Intron	19	67	1	0	4.35e-09	5.63e-09	19	67				
LILRA1	11024	broad.mit.edu	37	19	55106733	55106733	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55106733G>T	ENST00000251372.3	+	5	709	c.527G>T	c.(526-528)gGg>gTg	p.G176V	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.G176V|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	176	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CGTACCCATGGGTGGTCCCGG	0.562																																						uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(526-528)GGG>GTG		leukocyte immunoglobulin-like receptor,							167.0	166.0	166.0					19																	55106733		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106733G>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.527G>T	19.37:g.55106733G>T	ENSP00000251372:p.Gly176Val					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.G176V	p.G176V	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	709	+			176			Ig-like C2-type 2.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.527G>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717817	0.30413	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.03124	4.04;4.04	2.24	-0.0342	0.13898	Immunoglobulin-like fold (1);	0.562514	0.16105	N	0.229344	T	0.11537	0.0281	M	0.84219	2.685	0.09310	N	1	D;D	0.65815	0.988;0.995	P;P	0.59424	0.725;0.857	T	0.07520	-1.0768	10	0.87932	D	0	.	3.9456	0.09347	0.409:0.0:0.591:0.0	.	176;176	O75019-2;O75019	.;LIRA1_HUMAN	V	176	ENSP00000251372:G176V;ENSP00000413715:G176V	ENSP00000251372:G176V	G	+	2	0	LILRA1	59798545	0.025000	0.19082	0.001000	0.08648	0.002000	0.02628	0.960000	0.29253	0.236000	0.21180	0.194000	0.17425	GGG		0.562	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		43	165	1	0	1.47e-15	2.08e-15	43	165				
LILRB1	10859	broad.mit.edu	37	19	55143548	55143548	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55143548C>G	ENST00000396331.1	+	6	878	c.521C>G	c.(520-522)gCc>gGc	p.A174G	LILRB1_ENST00000434867.2_Missense_Mutation_p.A174G|LILRB1_ENST00000324602.7_Missense_Mutation_p.A174G|LILRB1_ENST00000396315.1_Missense_Mutation_p.A174G|LILRB1_ENST00000448689.1_Missense_Mutation_p.A174G|LILRB1_ENST00000418536.2_Missense_Mutation_p.A174G|LILRB1_ENST00000396317.1_Missense_Mutation_p.A174G|LILRB1_ENST00000396327.3_Missense_Mutation_p.A174G|LILRB1_ENST00000396332.4_Missense_Mutation_p.A174G|LILRB1_ENST00000427581.2_Missense_Mutation_p.A210G|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396321.2_Missense_Mutation_p.A174G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	174	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)		CAGCCCCATGCCCGTGGGTCG	0.572										HNSCC(37;0.09)																												uc002qgj.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(520-522)GCC>GGC		leukocyte immunoglobulin-like receptor,							139.0	132.0	134.0					19																	55143548		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.chr19:55143548C>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.521C>G	19.37:g.55143548C>G	ENSP00000379622:p.Ala174Gly	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.A174G|LILRB1_uc002qgk.2_Missense_Mutation_p.A174G|LILRB1_uc002qgm.2_Missense_Mutation_p.A174G|LILRB1_uc010erq.2_Missense_Mutation_p.A174G|LILRB1_uc010err.2_RNA	p.A174G	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	861	+			174			Ig-like C2-type 2.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.521C>G	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	8.401	0.841919	0.16963	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02472	4.28;4.28;4.28;4.28;4.28;4.28;4.28;4.28;4.28;4.28;4.28	1.57	1.57	0.23409	Immunoglobulin-like fold (1);	1.171020	0.06233	N	0.688990	T	0.04048	0.0113	L	0.46567	1.45	0.09310	N	1	B;B;B;B;B	0.16166	0.001;0.006;0.001;0.008;0.016	B;B;B;B;B	0.29267	0.007;0.061;0.011;0.061;0.1	T	0.48547	-0.9026	10	0.20519	T	0.43	.	6.6481	0.22947	0.0:1.0:0.0:0.0	.	174;174;174;174;174	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	G	174;174;174;174;174;174;174;174;210;174;174	ENSP00000379614:A174G;ENSP00000391514:A174G;ENSP00000409968:A174G;ENSP00000379622:A174G;ENSP00000379618:A174G;ENSP00000315997:A174G;ENSP00000405243:A174G;ENSP00000379623:A174G;ENSP00000395004:A210G;ENSP00000379610:A174G;ENSP00000379608:A174G	ENSP00000315997:A174G	A	+	2	0	LILRB1	59835360	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.564000	0.05936	1.193000	0.43086	0.184000	0.17185	GCC		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			38	92	0	0	0	0	38	92				
SUV420H2	84787	broad.mit.edu	37	19	55853662	55853662	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:55853662G>C	ENST00000255613.3	+	3	438	c.190G>C	c.(190-192)Gcg>Ccg	p.A64P	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	64					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCTGGAGGCTGCGTACCGGGC	0.726																																						uc002qkj.3		NA																	0					0						c.(190-192)GCG>CCG		suppressor of variegation 4-20 homolog 2							7.0	9.0	8.0					19																	55853662		2166	4259	6425	SO:0001583	missense	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55853662G>C	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.190G>C	19.37:g.55853662G>C	ENSP00000255613:p.Ala64Pro					SUV420H2_uc010esx.1_Missense_Mutation_p.A64P|SUV420H2_uc002qkk.1_Missense_Mutation_p.A64P|SUV420H2_uc002qkl.2_Intron	p.A64P	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	3	438	+	Breast(117;0.191)		64					Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	c.190G>C	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543533	0.86022	.	.	ENSG00000133247	ENST00000255613	.	.	.	4.41	4.41	0.53225	.	0.148988	0.44097	D	0.000483	T	0.76884	0.4050	M	0.67700	2.07	0.58432	D	0.999997	D	0.89917	1.0	D	0.74023	0.982	T	0.80094	-0.1526	9	0.66056	D	0.02	-19.8811	16.1467	0.81577	0.0:0.0:1.0:0.0	.	64	Q86Y97	SV422_HUMAN	P	64	.	ENSP00000255613:A64P	A	+	1	0	SUV420H2	60545474	0.977000	0.34250	0.998000	0.56505	0.981000	0.71138	3.826000	0.55738	2.154000	0.67381	0.561000	0.74099	GCG		0.726	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		5	13	0	0	0	0	5	13				
ZNF135	7694	broad.mit.edu	37	19	58578900	58578900	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:58578900G>A	ENST00000313434.5	+	5	1149	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	ZNF135_ENST00000401053.4_Missense_Mutation_p.G374R|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.G350R|ZNF135_ENST00000359978.6_Missense_Mutation_p.G362R|ZNF135_ENST00000511556.1_Missense_Mutation_p.G362R|ZNF135_ENST00000506786.1_Missense_Mutation_p.G308R	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	350					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AATCCACACTGGGGAGAAACC	0.572																																						uc010yhq.1		NA																	0				ovary(1)	1						c.(1084-1086)GGG>AGG		zinc finger protein 135 isoform 2							52.0	45.0	47.0					19																	58578900		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578900G>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1048G>A	19.37:g.58578900G>A	ENSP00000321406:p.Gly350Arg					ZNF135_uc002qre.2_Missense_Mutation_p.G350R|ZNF135_uc002qrd.1_Missense_Mutation_p.G308R|ZNF135_uc002qrf.2_Missense_Mutation_p.G308R|ZNF135_uc002qrg.2_Missense_Mutation_p.G320R|ZNF135_uc010yhr.1_Missense_Mutation_p.G171R	p.G362R	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1180	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	362					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1084G>A		.	.	.	.	.	.	.	.	.	.	G	14.08	2.427371	0.43122	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;4.72	3.1	3.1	0.35709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42877	0.1222	L	0.50919	1.6	0.37378	D	0.911911	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51244	-0.8730	9	0.72032	D	0.01	.	11.9961	0.53204	0.0:0.0:1.0:0.0	.	362;350;362	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	R	362;374;362;350;350;362;308	ENSP00000441410:G374R;ENSP00000369437:G362R;ENSP00000444828:G350R;ENSP00000321406:G350R;ENSP00000422074:G362R;ENSP00000427691:G308R	ENSP00000321406:G350R	G	+	1	0	ZNF135	63270712	1.000000	0.71417	0.985000	0.45067	0.092000	0.18411	4.846000	0.62860	1.736000	0.51660	0.557000	0.71058	GGG		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		18	32	0	0	0	0	18	32				
APOB	338	broad.mit.edu	37	2	21226197	21226197	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:21226197C>T	ENST00000233242.1	-	29	12224	c.12097G>A	c.(12097-12099)Gat>Aat	p.D4033N	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4033					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTTTTTATCTGGAGAGGAC	0.338																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(12097-12099)GAT>AAT		apolipoprotein B precursor	Atorvastatin(DB01076)						153.0	175.0	167.0					2																	21226197		2203	4299	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21226197C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12097G>A	2.37:g.21226197C>T	ENSP00000233242:p.Asp4033Asn						p.D4033N	NM_000384	NP_000375	P04114	APOB_HUMAN			29	12225	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4033					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12097G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892327	0.72524	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.32988	1.43	6.08	4.29	0.51040	.	0.985537	0.08285	N	0.969326	T	0.36138	0.0956	M	0.70595	2.14	0.25710	N	0.985496	B	0.10296	0.003	B	0.08055	0.003	T	0.32455	-0.9906	10	0.66056	D	0.02	.	9.3862	0.38345	0.0:0.738:0.1273:0.1346	.	4033	P04114	APOB_HUMAN	N	4033	ENSP00000233242:D4033N	ENSP00000233242:D4033N	D	-	1	0	APOB	21079702	0.875000	0.30112	0.981000	0.43875	0.986000	0.74619	2.117000	0.41939	0.902000	0.36520	0.655000	0.94253	GAT		0.338	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			87	238	0	0	0	0	87	238				
OTOF	9381	broad.mit.edu	37	2	26696031	26696031	+	Silent	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:26696031T>G	ENST00000272371.2	-	29	3828	c.3702A>C	c.(3700-3702)ccA>ccC	p.P1234P	OTOF_ENST00000402415.3_Silent_p.P544P|OTOF_ENST00000338581.6_Silent_p.P487P|OTOF_ENST00000339598.3_Silent_p.P487P|OTOF_ENST00000403946.3_Silent_p.P1234P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1234					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)					CCGAGCGGTCTGGGGGCCGGT	0.682																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(3700-3702)CCA>CCC		otoferlin isoform a							35.0	40.0	38.0					2																	26696031		2203	4299	6502	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.chr2:26696031T>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.3702A>C	2.37:g.26696031T>G						OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Silent_p.P487P|OTOF_uc002rhi.2_Silent_p.P544P|OTOF_uc002rhj.2_Silent_p.P487P	p.P1234P	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			29	3829	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1234			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.3702A>C	CCDS1725.1																																																																																				0.682	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			16	44	0	0	0	0	16	44				
ZNF513	130557	broad.mit.edu	37	2	27603383	27603383	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:27603383C>T	ENST00000323703.6	-	1	209	c.11G>A	c.(10-12)aGg>aAg	p.R4K	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	4					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTGCTTCCTTCGGGGCAT	0.711																																						uc002rkk.2		NA																	0				ovary(1)	1						c.(10-12)AGG>AAG		zinc finger protein 513							23.0	19.0	21.0					2																	27603383		2200	4298	6498	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27603383C>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.11G>A	2.37:g.27603383C>T	ENSP00000318373:p.Arg4Lys					ZNF513_uc002rkj.2_5'Flank	p.R4K	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			1	211	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.11G>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117503	0.77323	.	.	ENSG00000163795	ENST00000323703	T	0.08282	3.11	3.72	3.72	0.42706	.	0.494876	0.16988	N	0.191420	T	0.06508	0.0167	N	0.24115	0.695	0.80722	D	1	B	0.26876	0.162	B	0.23018	0.043	T	0.40213	-0.9575	10	0.20519	T	0.43	-8.5811	14.6	0.68435	0.0:1.0:0.0:0.0	.	4	Q8N8E2	ZN513_HUMAN	K	4	ENSP00000318373:R4K	ENSP00000318373:R4K	R	-	2	0	ZNF513	27456887	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	5.778000	0.68940	2.082000	0.62665	0.555000	0.69702	AGG		0.711	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		4	9	0	0	0	0	4	9				
WDR43	23160	broad.mit.edu	37	2	29169565	29169565	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:29169565G>A	ENST00000407426.3	+	18	2010	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	652						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					agaaaatggcgaggacagaga	0.403																																						uc002rmo.2		NA																	0				ovary(1)	1						c.(1954-1956)GAG>AAG		WD repeat domain 43							74.0	80.0	79.0					2																	29169565		1952	4153	6105	SO:0001583	missense	23160					nucleolus		g.chr2:29169565G>A	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1954G>A	2.37:g.29169565G>A	ENSP00000384302:p.Glu652Lys						p.E652K	NM_015131	NP_055946	Q15061	WDR43_HUMAN			18	1986	+	Acute lymphoblastic leukemia(172;0.155)		652					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1954G>A	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245458	0.39697	.	.	ENSG00000163811	ENST00000407426	T	0.05319	3.46	6.07	4.22	0.49857	.	0.243495	0.39687	N	0.001293	T	0.07593	0.0191	L	0.55481	1.735	0.41298	D	0.987023	B	0.09022	0.002	B	0.04013	0.001	T	0.09487	-1.0672	10	0.59425	D	0.04	-12.587	8.0972	0.30835	0.1449:0.133:0.7221:0.0	.	652	Q15061	WDR43_HUMAN	K	652	ENSP00000384302:E652K	ENSP00000384302:E652K	E	+	1	0	WDR43	29023069	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.609000	0.67661	1.571000	0.49722	0.655000	0.94253	GAG		0.403	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		3	8	0	0	0	0	3	8				
PSME4	23198	broad.mit.edu	37	2	54125132	54125132	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:54125132A>T	ENST00000404125.1	-	31	3536	c.3481T>A	c.(3481-3483)Tgg>Agg	p.W1161R	PSME4_ENST00000421748.2_Missense_Mutation_p.W305R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCAAATTTCCAGGGCCTTAAA	0.363																																						uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3481-3483)TGG>AGG		proteasome (prosome, macropain) activator							103.0	106.0	105.0					2																	54125132		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54125132A>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3481T>A	2.37:g.54125132A>T	ENSP00000384211:p.Trp1161Arg					PSME4_uc010yop.1_Missense_Mutation_p.W1047R|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.W536R|PSME4_uc010fbv.1_Missense_Mutation_p.W305R	p.W1161R	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		31	3537	-			1161					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.3481T>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.336337	0.81801	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.67345	-0.26;-0.26	5.55	5.55	0.83447	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.91635	0.964;0.999;0.85	D	0.83435	0.0040	10	0.87932	D	0	-12.9453	15.6914	0.77457	1.0:0.0:0.0:0.0	.	536;305;1161	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	305;1161	ENSP00000410830:W305R;ENSP00000384211:W1161R	ENSP00000384211:W1161R	W	-	1	0	PSME4	53978636	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.110000	0.64415	0.533000	0.62120	TGG		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		28	85	0	0	0	0	28	85				
XPO1	7514	broad.mit.edu	37	2	61760930	61760930	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:61760930A>G	ENST00000401558.2	-	2	830	c.103T>C	c.(103-105)Tta>Cta	p.L35L	XPO1_ENST00000481214.1_5'UTR|XPO1_ENST00000406957.1_Silent_p.L35L|XPO1_ENST00000404992.2_Silent_p.L35L	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	35	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CCATGGTATAAGCAATTCACC	0.368			Mis		CLL																																	uc002sbj.2		NA	-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(103-105)TTA>CTA		exportin 1							113.0	105.0	108.0					2																	61760930		2203	4300	6503	SO:0001819	synonymous_variant	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61760930A>G	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.103T>C	2.37:g.61760930A>G						XPO1_uc010fcl.2_Silent_p.L31L|XPO1_uc010ypn.1_Silent_p.L31L|XPO1_uc002sbk.2_5'UTR	p.L35L	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		2	831	-			35			Necessary for HTLV-1 Rex-mediated mRNA export.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	ENST00000401558.2	37	c.103T>C	CCDS33205.1																																																																																				0.368	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		16	45	0	0	0	0	16	45				
DYSF	8291	broad.mit.edu	37	2	71825794	71825794	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:71825794G>T	ENST00000258104.3	+	33	3898	c.3621G>T	c.(3619-3621)gaG>gaT	p.E1207D	DYSF_ENST00000429174.2_Missense_Mutation_p.E1207D|DYSF_ENST00000409651.1_Missense_Mutation_p.E1239D|DYSF_ENST00000409366.1_Missense_Mutation_p.E1208D|DYSF_ENST00000394120.2_Missense_Mutation_p.E1208D|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.E1225D|DYSF_ENST00000413539.2_Missense_Mutation_p.E1238D|DYSF_ENST00000409744.1_Missense_Mutation_p.E1194D|DYSF_ENST00000409582.3_Missense_Mutation_p.E1224D|DYSF_ENST00000409762.1_Missense_Mutation_p.E1224D|DYSF_ENST00000410020.3_Missense_Mutation_p.E1225D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1207	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTTCTACGAGATCGAGATCT	0.567																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(3619-3621)GAG>GAT		dysferlin isoform 8							90.0	85.0	87.0					2																	71825794		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71825794G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3621G>T	2.37:g.71825794G>T	ENSP00000258104:p.Glu1207Asp					DYSF_uc010feg.2_Missense_Mutation_p.E1238D|DYSF_uc010feh.2_Missense_Mutation_p.E1193D|DYSF_uc002sig.3_Missense_Mutation_p.E1193D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1207D|DYSF_uc010fef.2_Missense_Mutation_p.E1224D|DYSF_uc010fei.2_Missense_Mutation_p.E1224D|DYSF_uc010fek.2_Missense_Mutation_p.E1225D|DYSF_uc010fej.2_Missense_Mutation_p.E1194D|DYSF_uc010fel.2_Missense_Mutation_p.E1194D|DYSF_uc010feo.2_Missense_Mutation_p.E1239D|DYSF_uc010fem.2_Missense_Mutation_p.E1208D|DYSF_uc010fen.2_Missense_Mutation_p.E1225D|DYSF_uc002sif.2_Missense_Mutation_p.E1208D|DYSF_uc010yqy.1_Missense_Mutation_p.E88D	p.E1207D	NM_003494	NP_003485	O75923	DYSF_HUMAN			33	3997	+			1207			Cytoplasmic (Potential).|C2 4.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3621G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037986	0.35989	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82803	-1.64;-1.64;-1.64;-1.64;-1.65;-1.64;-1.65;-1.64;-1.64;-1.64;-1.64	5.66	5.66	0.87406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	N	0.11106	0.095	0.47094	D	0.999313	P;D;P;P;B;B;B;B;D;B;B;D;P;D	0.55800	0.694;0.967;0.913;0.942;0.002;0.002;0.002;0.002;0.967;0.002;0.007;0.967;0.942;0.973	B;P;P;P;B;B;B;B;P;B;B;P;P;P	0.59546	0.409;0.779;0.615;0.779;0.024;0.008;0.024;0.012;0.779;0.005;0.011;0.615;0.779;0.859	T	0.73572	-0.3940	10	0.17832	T	0.49	-34.6533	10.6385	0.45579	0.0868:0.0:0.9132:0.0	.	1239;1225;1208;1194;1225;1194;1224;1193;1238;1224;1207;1193;1208;1207	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	D	1238;1224;1224;1207;1207;1239;1208;1194;1208;1225;1225	ENSP00000407046:E1238D;ENSP00000387137:E1224D;ENSP00000386547:E1224D;ENSP00000398305:E1207D;ENSP00000258104:E1207D;ENSP00000386683:E1239D;ENSP00000377678:E1208D;ENSP00000386285:E1194D;ENSP00000386512:E1208D;ENSP00000386881:E1225D;ENSP00000386617:E1225D	ENSP00000258104:E1207D	E	+	3	2	DYSF	71679302	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.148000	0.42235	2.675000	0.91044	0.655000	0.94253	GAG		0.567	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		29	55	1	0	5.46e-16	7.72e-16	29	55				
DCTN1	1639	broad.mit.edu	37	2	74594514	74594514	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:74594514C>G	ENST00000361874.3	-	19	2535	c.2218G>C	c.(2218-2220)Gag>Cag	p.E740Q	DCTN1_ENST00000409438.1_Missense_Mutation_p.E606Q|DCTN1_ENST00000409567.3_Missense_Mutation_p.E720Q|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Missense_Mutation_p.E723Q|DCTN1_ENST00000394003.3_Missense_Mutation_p.E733Q|DCTN1_ENST00000409240.1_Missense_Mutation_p.E703Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.E606Q	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	740					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTACAGTCCTCAGGCTGTTCG	0.527																																						uc002skx.2		NA																	0				ovary(3)|skin(2)	5						c.(2218-2220)GAG>CAG		dynactin 1 isoform 1							88.0	79.0	82.0					2																	74594514		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74594514C>G		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2218G>C	2.37:g.74594514C>G	ENSP00000354791:p.Glu740Gln					DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.E606Q|DCTN1_uc002sku.2_Missense_Mutation_p.E606Q|DCTN1_uc002skw.1_Missense_Mutation_p.E716Q|DCTN1_uc010ffd.2_Missense_Mutation_p.E720Q|DCTN1_uc002sky.2_Missense_Mutation_p.E703Q	p.E740Q	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			19	2529	-			740					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2218G>C	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.121058	0.77436	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.96	5.96	0.96718	.	0.000000	0.43747	D	0.000530	D	0.89504	0.6734	L	0.57536	1.79	0.80722	D	1	D;P;D;B;D;D	0.69078	0.989;0.947;0.997;0.272;0.959;0.996	P;P;D;B;P;D	0.79108	0.74;0.558;0.992;0.219;0.561;0.986	D	0.86348	0.1709	10	0.29301	T	0.29	-13.6331	19.1799	0.93619	0.0:1.0:0.0:0.0	.	720;703;740;733;606;606	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	Q	740;733;723;606;606;703;723;720	ENSP00000354791:E740Q;ENSP00000377571:E733Q;ENSP00000384844:E606Q;ENSP00000387270:E606Q;ENSP00000386406:E703Q;ENSP00000387327:E723Q;ENSP00000386843:E720Q	ENSP00000354791:E740Q	E	-	1	0	DCTN1	74448022	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	5.967000	0.70403	2.833000	0.97629	0.650000	0.86243	GAG		0.527	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		18	37	0	0	0	0	18	37				
EVA1A	84141	broad.mit.edu	37	2	75720464	75720464	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:75720464C>A	ENST00000233712.1	-	4	794	c.357G>T	c.(355-357)gaG>gaT	p.E119D	EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.E119D|EVA1A_ENST00000410071.1_Missense_Mutation_p.E119D|EVA1A_ENST00000410010.1_Missense_Mutation_p.E107D|EVA1A_ENST00000393913.3_Missense_Mutation_p.E119D	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	119					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											GCTGGGCGCGCTCCAGCTCCT	0.612																																						uc002sni.2		NA																	0					0						c.(355-357)GAG>GAT		family with sequence similarity 176, member A							43.0	46.0	45.0					2																	75720464		2203	4300	6503	SO:0001583	missense	84141				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		g.chr2:75720464C>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.357G>T	2.37:g.75720464C>A	ENSP00000233712:p.Glu119Asp					FAM176A_uc002snj.1_Missense_Mutation_p.E106D|FAM176A_uc002snk.1_Missense_Mutation_p.E119D	p.E119D	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN			4	835	-			119					D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.357G>T	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234331	0.79800	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.05	5.05	0.67936	.	0.043672	0.85682	D	0.000000	T	0.53674	0.1811	M	0.70787	2.145	0.80722	D	1	B	0.32693	0.38	B	0.30316	0.114	T	0.59284	-0.7483	10	0.59425	D	0.04	-6.4842	16.7196	0.85407	0.0:1.0:0.0:0.0	.	119	Q9H8M9	F176A_HUMAN	D	119;119;119;107;119;119	ENSP00000377490:E119D;ENSP00000233712:E119D;ENSP00000386435:E119D;ENSP00000386835:E107D;ENSP00000386930:E119D;ENSP00000398249:E119D	ENSP00000233712:E119D	E	-	3	2	FAM176A	75573972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.226000	0.51254	2.722000	0.93159	0.655000	0.94253	GAG		0.612	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		24	55	1	0	1.97e-08	2.51e-08	24	55				
REG3A	5068	broad.mit.edu	37	2	79384406	79384406	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:79384406C>A	ENST00000409839.3	-	6	510	c.474G>T	c.(472-474)tgG>tgT	p.W158C	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.W158C|REG3A_ENST00000393878.1_Missense_Mutation_p.W158C	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	158	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TATAATCTTTCCACCTCAGAA	0.458																																						uc002sod.1		NA																	0				skin(1)	1						c.(472-474)TGG>TGT		pancreatitis-associated protein precursor							92.0	88.0	89.0					2																	79384406		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384406C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.474G>T	2.37:g.79384406C>A	ENSP00000386630:p.Trp158Cys					REG3A_uc002soe.1_Missense_Mutation_p.W158C|REG3A_uc002sof.1_Missense_Mutation_p.W158C	p.W158C	NM_138938	NP_620355	Q06141	REG3A_HUMAN			5	729	-			158			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.474G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062636	0.55432	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.25749	1.78;1.78;1.78	3.96	3.96	0.45880	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.49305	D	0.000151	T	0.64427	0.2597	H	0.98178	4.165	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.76288	-0.3014	10	0.87932	D	0	.	11.8046	0.52147	0.0:1.0:0.0:0.0	.	158	Q06141	REG3A_HUMAN	C	158	ENSP00000386630:W158C;ENSP00000377456:W158C;ENSP00000304311:W158C	ENSP00000304311:W158C	W	-	3	0	REG3A	79237914	0.989000	0.36119	0.718000	0.30602	0.308000	0.27856	3.056000	0.49923	2.499000	0.84300	0.561000	0.74099	TGG		0.458	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		19	35	1	0	3.52e-12	4.76e-12	19	35				
CTNNA2	1496	broad.mit.edu	37	2	80136849	80136849	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:80136849C>A	ENST00000402739.4	+	6	987	c.982C>A	c.(982-984)Cgc>Agc	p.R328S	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R328S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R328S|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R328S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R362S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R328S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	328					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						AGACGACCGGCGCGAGAGGAT	0.637																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(982-984)CGC>AGC		catenin, alpha 2 isoform 1							50.0	57.0	55.0					2																	80136849		2076	4219	6295	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.chr2:80136849C>A		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.982C>A	2.37:g.80136849C>A	ENSP00000384638:p.Arg328Ser					CTNNA2_uc010yse.1_Missense_Mutation_p.R328S|CTNNA2_uc010ysf.1_Missense_Mutation_p.R328S|CTNNA2_uc010ysg.1_Missense_Mutation_p.R328S	p.R328S	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	987	+			328					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.982C>A		.	.	.	.	.	.	.	.	.	.	C	25.2	4.608987	0.87258	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.6	5.6	0.85130	.	0.139252	0.47852	N	0.000214	T	0.67878	0.2940	M	0.90082	3.085	0.80722	D	1	D;P;D	0.61697	0.99;0.827;0.983	P;P;P	0.59761	0.849;0.568;0.863	T	0.75193	-0.3404	10	0.87932	D	0	.	15.9509	0.79835	0.1353:0.8647:0.0:0.0	.	328;328;328	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	S	328;328;362;328;328;328	ENSP00000418191:R328S;ENSP00000419295:R328S;ENSP00000355398:R362S;ENSP00000384638:R328S;ENSP00000444675:R328S;ENSP00000441705:R328S	ENSP00000355398:R362S	R	+	1	0	CTNNA2	79990360	0.994000	0.37717	0.999000	0.59377	0.907000	0.53573	3.187000	0.50950	2.652000	0.90054	0.591000	0.81541	CGC		0.637	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		27	94	1	0	4.23e-11	5.67e-11	27	94				
SH2D6	284948	broad.mit.edu	37	2	85662935	85662935	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:85662935G>C	ENST00000340326.2	+	3	560	c.399G>C	c.(397-399)agG>agC	p.R133S	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Missense_Mutation_p.R101S|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	133	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						GGGAGGGCAGGAACCGTGAGG	0.637																																						uc002spq.2		NA																	0				central_nervous_system(1)	1						c.(397-399)AGG>AGC		SH2 domain containing 6							13.0	17.0	16.0					2																	85662935		2192	4297	6489	SO:0001583	missense	284948							g.chr2:85662935G>C	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.399G>C	2.37:g.85662935G>C	ENSP00000341867:p.Arg133Ser					SH2D6_uc002spo.2_RNA|SH2D6_uc002spp.2_RNA	p.R133S	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN			3	560	+			133			SH2.		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.399G>C	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272771	0.59649	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D;D	0.88896	-2.44;-2.44	4.98	4.1	0.47936	SH2 motif (4);	0.803290	0.11185	N	0.590594	D	0.91005	0.7171	M	0.85373	2.75	0.36313	D	0.857762	P	0.47484	0.896	P	0.46510	0.519	D	0.90244	0.4288	10	0.52906	T	0.07	-11.1536	9.127	0.36821	0.1014:0.0:0.8986:0.0	.	133	Q7Z4S9	SH2D6_HUMAN	S	101;133	ENSP00000374588:R101S;ENSP00000341867:R133S	ENSP00000341867:R133S	R	+	3	2	SH2D6	85516446	1.000000	0.71417	0.176000	0.23000	0.977000	0.68977	2.680000	0.46918	1.101000	0.41535	0.462000	0.41574	AGG		0.637	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		5	5	0	0	0	0	5	5				
MERTK	10461	broad.mit.edu	37	2	112751909	112751909	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:112751909A>G	ENST00000295408.4	+	9	1635	c.1378A>G	c.(1378-1380)Agg>Ggg	p.R460G	MERTK_ENST00000421804.2_Missense_Mutation_p.R460G|MERTK_ENST00000409780.1_Missense_Mutation_p.R284G			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	460	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGCACAGTGAGGATTGCAGC	0.527																																						uc002thk.1		NA																	0				lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1378-1380)AGG>GGG		MER receptor tyrosine kinase precursor							156.0	147.0	150.0					2																	112751909		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112751909A>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1378A>G	2.37:g.112751909A>G	ENSP00000295408:p.Arg460Gly					MERTK_uc002thl.1_Missense_Mutation_p.R284G	p.R460G	NM_006343	NP_006334	Q12866	MERTK_HUMAN			9	1500	+			460			Fibronectin type-III 2.|Extracellular (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1378A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786107	0.49997	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.59224	0.28;0.28;0.28	5.1	3.86	0.44501	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.211102	0.23670	U	0.045732	T	0.57858	0.2082	M	0.88105	2.93	0.34520	D	0.708105	P	0.38922	0.651	B	0.32677	0.15	T	0.74680	-0.3584	10	0.72032	D	0.01	-20.294	8.5138	0.33233	0.804:0.196:0.0:0.0	.	460	Q12866	MERTK_HUMAN	G	460;460;55;284	ENSP00000295408:R460G;ENSP00000389152:R460G;ENSP00000387277:R284G	ENSP00000295408:R460G	R	+	1	2	MERTK	112468380	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.322000	0.52007	2.046000	0.60703	0.460000	0.39030	AGG		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			55	125	0	0	0	0	55	125				
CNTNAP5	129684	broad.mit.edu	37	2	125547524	125547524	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:125547524C>A	ENST00000431078.1	+	18	3159	c.2795C>A	c.(2794-2796)tCc>tAc	p.S932Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	932	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S932Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCATTCGCTCCTTACACTTG	0.493																																						uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2794-2796)TCC>TAC		contactin associated protein-like 5 precursor							63.0	62.0	62.0					2																	125547524		2030	4197	6227	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547524C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2795C>A	2.37:g.125547524C>A	ENSP00000399013:p.Ser932Tyr					CNTNAP5_uc010flu.2_Missense_Mutation_p.S933Y	p.S932Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3159	+			932			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2795C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578414	0.86645	.	.	ENSG00000155052	ENST00000431078	T	0.51325	0.71	5.24	5.24	0.73138	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.49916	D	0.000123	T	0.73118	0.3546	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77264	-0.2652	10	0.66056	D	0.02	.	18.1624	0.89712	0.0:1.0:0.0:0.0	.	932	Q8WYK1	CNTP5_HUMAN	Y	932	ENSP00000399013:S932Y	ENSP00000399013:S932Y	S	+	2	0	CNTNAP5	125263994	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.692000	0.84203	2.619000	0.88677	0.655000	0.94253	TCC		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			26	41	1	0	1.18e-14	1.65e-14	26	41				
NCKAP5	344148	broad.mit.edu	37	2	133542404	133542404	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:133542404C>G	ENST00000409261.1	-	14	2353	c.1980G>C	c.(1978-1980)agG>agC	p.R660S	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R660S|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	660										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						CTGAAGAAGTCCTTTTTACAA	0.443																																						uc002ttp.2		NA																	0					0						c.(1978-1980)AGG>AGC		Nck-associated protein 5 isoform 1							110.0	109.0	109.0					2																	133542404		1886	4106	5992	SO:0001583	missense	344148						protein binding	g.chr2:133542404C>G	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.1980G>C	2.37:g.133542404C>G	ENSP00000387128:p.Arg660Ser					NCKAP5_uc002ttq.2_Intron	p.R660S	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2354	-			660					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1980G>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	16.74	3.206910	0.58343	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.39592	1.07;1.07	5.64	3.85	0.44370	.	0.188282	0.25355	U	0.031263	T	0.36663	0.0975	L	0.29908	0.895	0.80722	D	1	P	0.47910	0.902	P	0.46543	0.52	T	0.20538	-1.0272	10	0.87932	D	0	.	10.8189	0.46593	0.0:0.8546:0.0:0.1454	.	660	O14513	NCKP5_HUMAN	S	660	ENSP00000387128:R660S;ENSP00000380603:R660S	ENSP00000380603:R660S	R	-	3	2	NCKAP5	133258874	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	0.275000	0.18698	0.931000	0.37242	0.651000	0.88453	AGG		0.443	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		31	89	0	0	0	0	31	89				
GALNT13	114805	broad.mit.edu	37	2	155157934	155157934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:155157934G>T	ENST00000392825.3	+	9	1555	c.988G>T	c.(988-990)Gga>Tga	p.G330*	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Nonsense_Mutation_p.G330*	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	330	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTGGCAATGTGGAGGCTCCTT	0.403																																						uc002tyr.3		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(988-990)GGA>TGA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							226.0	219.0	222.0					2																	155157934		2203	4300	6503	SO:0001587	stop_gained	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155157934G>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.988G>T	2.37:g.155157934G>T	ENSP00000376570:p.Gly330*					GALNT13_uc002tyt.3_Nonsense_Mutation_p.G330*|GALNT13_uc010foc.1_Nonsense_Mutation_p.G149*|GALNT13_uc010fod.2_Nonsense_Mutation_p.G83*	p.G330*	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			9	1555	+			330			Catalytic subdomain B.|Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Nonsense_Mutation	SNP	ENST00000392825.3	37	c.988G>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	45	11.833921	0.99608	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	.	.	.	5.22	4.34	0.51931	.	0.104599	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.2949	0.60292	0.077:0.0:0.923:0.0	.	.	.	.	X	330	.	ENSP00000376570:G330X	G	+	1	0	GALNT13	154866180	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.706000	0.98722	1.326000	0.45319	0.655000	0.94253	GGA		0.403	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		51	131	1	0	1.4e-22	2.06e-22	51	131				
DHRS9	10170	broad.mit.edu	37	2	169938164	169938164	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:169938164G>A	ENST00000327239.4	+	5	1577	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	DHRS9_ENST00000357546.2_Missense_Mutation_p.E25K|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000428522.1_Missense_Mutation_p.E25K|DHRS9_ENST00000412271.1_Missense_Mutation_p.E25K|DHRS9_ENST00000602501.1_Missense_Mutation_p.E25K|DHRS9_ENST00000432060.2_Missense_Mutation_p.E85K|DHRS9_ENST00000436483.2_Missense_Mutation_p.E25K	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	25					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTAAAGATTGAAGACATCAC	0.418																																						uc002uep.2		NA																	0					0						c.(73-75)GAA>AAA		NADP-dependent retinol dehydrogenase/reductase							120.0	119.0	119.0					2																	169938164		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169938164G>A	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.73G>A	2.37:g.169938164G>A	ENSP00000316670:p.Glu25Lys					DHRS9_uc002ueq.2_Missense_Mutation_p.E25K|DHRS9_uc010zdc.1_Missense_Mutation_p.E85K|DHRS9_uc002uer.1_Missense_Mutation_p.E25K|DHRS9_uc010zdd.1_Missense_Mutation_p.E25K|DHRS9_uc010zde.1_Missense_Mutation_p.E25K	p.E25K	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN			5	1577	+			25					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.73G>A	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897171	0.33535	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000450153;ENST00000436483;ENST00000412271	D;D;D;D;T;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;0.78;-1.76;-1.76	5.88	-1.57	0.08506	.	0.610574	0.18823	N	0.130197	T	0.54581	0.1867	N	0.04320	-0.23	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.48031	-0.9070	10	0.06625	T	0.88	.	6.3477	0.21359	0.4444:0.0:0.4412:0.1144	.	85;25	B7Z416;Q9BPW9	.;DHRS9_HUMAN	K	25;25;85;25;25;25;25	ENSP00000316670:E25K;ENSP00000350154:E25K;ENSP00000389241:E85K;ENSP00000388564:E25K;ENSP00000391214:E25K;ENSP00000407167:E25K;ENSP00000407747:E25K	ENSP00000316670:E25K	E	+	1	0	DHRS9	169646410	0.000000	0.05858	0.358000	0.25811	0.816000	0.46133	0.009000	0.13219	-0.671000	0.05274	-0.302000	0.09304	GAA		0.418	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		24	59	0	0	0	0	24	59				
TTN	7273	broad.mit.edu	37	2	179470318	179470318	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179470318G>T	ENST00000591111.1	-	229	49005	c.48781C>A	c.(48781-48783)Cgg>Agg	p.R16261R	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.R8962R|TTN_ENST00000460472.2_Silent_p.R8837R|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.R9029R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.R17902R|TTN_ENST00000342992.6_Silent_p.R15334R			Q8WZ42	TITIN_HUMAN	titin	16261	Fibronectin type-III 18. {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)			TCATGACGCCGTTTTTCAATG	0.433																																						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.(46000-46002)CGG>AGG		titin isoform N2-A							150.0	144.0	146.0					2																	179470318		1941	4120	6061	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179470318G>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.48781C>A	2.37:g.179470318G>T						uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R9029R|TTN_uc010zfi.1_Silent_p.R8962R|TTN_uc010zfj.1_Silent_p.R8837R	p.R15334R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		228	46224	-			16261					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.46000C>A																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	97	1	0	4.6e-10	6.07e-10	26	97				
TTN	7273	broad.mit.edu	37	2	179534147	179534147	+	Intron	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179534147T>G	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q11833P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_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)			TTTTTCTTCTTGAACACTTTT	0.289																																						uc010zfk.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.(19-21)CAA>CCA		SubName: Full=Titin; Flags: Fragment;							11.0	11.0	11.0					2																	179534147		870	1986	2856	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179534147T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+797A>C	2.37:g.179534147T>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.Q7P			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		5	568	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.20A>C		.	.	.	.	.	.	.	.	.	.	T	5.813	0.334325	0.11013	.	.	ENSG00000155657	ENST00000541862	.	.	.	5.28	2.54	0.30619	.	.	.	.	.	T	0.15912	0.0383	.	.	.	0.33319	D	0.56703	B	0.10296	0.003	B	0.12837	0.008	T	0.33266	-0.9875	7	0.02654	T	1	.	5.4309	0.16452	0.2356:0.0:0.2447:0.5197	.	135	Q71S18	.	P	135	.	ENSP00000445986:Q135P	Q	-	2	0	TTN	179242392	0.000000	0.05858	0.952000	0.39060	0.242000	0.25591	-0.384000	0.07389	2.009000	0.58944	0.383000	0.25322	CAA		0.289	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	4	0	0	0	0	4	4				
TTN	7273	broad.mit.edu	37	2	179556770	179556770	+	Missense_Mutation	SNP	T	T	C	rs376287951		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179556770T>C	ENST00000591111.1	-	119	31008	c.30784A>G	c.(30784-30786)Aag>Gag	p.K10262E	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K10579E|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9335E			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			GGTTCCTTCTTAGGCACAGGA	0.458																																						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.(28003-28005)AAG>GAG		titin isoform N2-A							97.0	95.0	96.0					2																	179556770		1874	4122	5996	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179556770T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30784A>G	2.37:g.179556770T>C	ENSP00000465570:p.Lys10262Glu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K5996E|TTN_uc010fre.1_Missense_Mutation_p.K446E	p.K9335E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		118	28227	-			10262					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.28003A>G		.	.	.	.	.	.	.	.	.	.	T	15.77	2.932034	0.52866	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T;T	0.70164	-0.46;-0.46	5.43	5.43	0.79202	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64897	0.2640	M	0.63428	1.95	0.80722	D	1	B;B	0.28128	0.001;0.201	B;B	0.23574	0.002;0.047	T	0.66697	-0.5858	9	0.87932	D	0	.	15.1553	0.72735	0.0:0.0:0.0:1.0	.	10262;10262	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	E	9335;457;89	ENSP00000343764:K9335E;ENSP00000401501:K457E	ENSP00000343764:K9335E	K	-	1	0	TTN	179265015	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.188000	0.58351	2.067000	0.61834	0.455000	0.32223	AAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	43	0	0	0	0	18	43				
TTN	7273	broad.mit.edu	37	2	179597011	179597011	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179597011T>A	ENST00000591111.1	-	55	15958	c.15734A>T	c.(15733-15735)cAg>cTg	p.Q5245L	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q5562L|TTN_ENST00000342992.6_Missense_Mutation_p.Q4318L			Q8WZ42	TITIN_HUMAN	titin	12064	Ig-like 33.				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)			GCAGGCTAGCTGGGTGGCATC	0.403																																						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.(12952-12954)CAG>CTG		titin isoform N2-A							121.0	116.0	117.0					2																	179597011		1893	4129	6022	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597011T>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.15734A>T	2.37:g.179597011T>A	ENSP00000465570:p.Gln5245Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q979L	p.Q4318L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	13177	-			5245					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.12953A>T		.	.	.	.	.	.	.	.	.	.	T	10.57	1.387402	0.25031	.	.	ENSG00000155657	ENST00000342992	T	0.39229	1.09	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.37073	0.0990	L	0.31476	0.935	0.80722	D	1	B	0.17852	0.024	B	0.21917	0.037	T	0.13495	-1.0507	9	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	5245	Q8WZ42	TITIN_HUMAN	L	4318	ENSP00000343764:Q4318L	ENSP00000343764:Q4318L	Q	-	2	0	TTN	179305256	0.100000	0.21855	1.000000	0.80357	0.998000	0.95712	2.447000	0.44917	2.371000	0.80710	0.533000	0.62120	CAG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		55	112	0	0	0	0	55	112				
TTN	7273	broad.mit.edu	37	2	179639041	179639041	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179639041C>A	ENST00000591111.1	-	30	7174	c.6950G>T	c.(6949-6951)cGt>cTt	p.R2317L	TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R2317L|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R2271L|TTN_ENST00000460472.2_Missense_Mutation_p.R2271L|TTN_ENST00000342175.6_Missense_Mutation_p.R2271L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R2317L|TTN_ENST00000342992.6_Missense_Mutation_p.R2317L			Q8WZ42	TITIN_HUMAN	titin	12639	Ig-like 12.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R2271H(3)|p.R2317H(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGTCCACGACGAGATGTAAT	0.408																																						uc010zfg.1		NA																	5	Substitution - Missense(5)		pancreas(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(6949-6951)CGT>CTT		titin isoform N2-A							175.0	161.0	166.0					2																	179639041		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639041C>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.6950G>T	2.37:g.179639041C>A	ENSP00000465570:p.Arg2317Leu					TTN_uc010zfh.1_Missense_Mutation_p.R2271L|TTN_uc010zfi.1_Missense_Mutation_p.R2271L|TTN_uc010zfj.1_Missense_Mutation_p.R2271L|TTN_uc002unb.2_Missense_Mutation_p.R2317L|uc002unc.1_5'Flank	p.R2317L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7174	-			2317					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.6950G>T		.	.	.	.	.	.	.	.	.	.	C	16.05	3.014059	0.54468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74741	0.3756	N	0.25380	0.74	0.48632	D	0.999681	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.77613	-0.2522	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2271;2271;2271;2317;2317	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	2317;2271;2271;2271;2271;2317	ENSP00000343764:R2317L;ENSP00000434586:R2271L;ENSP00000340554:R2271L;ENSP00000352154:R2271L;ENSP00000354117:R2317L	ENSP00000340554:R2271L	R	-	2	0	TTN	179347286	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	CGT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	88	1	0	3.63e-18	5.24e-18	34	88				
ITGA4	3676	broad.mit.edu	37	2	182392030	182392030	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:182392030A>G	ENST00000397033.2	+	22	2776	c.2346A>G	c.(2344-2346)gtA>gtG	p.V782V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	782					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CCAGGTTTGTAAACCCAACTT	0.299																																						uc002unu.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2344-2346)GTA>GTG		integrin alpha 4 precursor	Natalizumab(DB00108)						84.0	81.0	82.0					2																	182392030		1839	4086	5925	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182392030A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2346A>G	2.37:g.182392030A>G						ITGA4_uc010frj.1_Silent_p.V264V|ITGA4_uc002unv.2_Silent_p.V27V	p.V782V	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		22	3109	+			782			Extracellular (Potential).		D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.2346A>G	CCDS42788.1																																																																																				0.299	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			3	34	0	0	0	0	3	34				
DNAH7	56171	broad.mit.edu	37	2	196749473	196749473	+	Silent	SNP	A	A	G	rs149685696		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:196749473A>G	ENST00000312428.6	-	35	5699	c.5599T>C	c.(5599-5601)Ttg>Ctg	p.L1867L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1867					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAAATTTCAATCGATCATCA	0.358													A|||	1	0.000199681	0.0	0.0	5008	,	,		20456	0.0		0.001	False		,,,				2504	0.0					uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(5599-5601)TTG>CTG		dynein, axonemal, heavy chain 7							90.0	82.0	85.0					2																	196749473		1845	4098	5943	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196749473A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5599T>C	2.37:g.196749473A>G							p.L1867L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			35	5700	-			1867					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.5599T>C	CCDS42794.1																																																																																				0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		11	34	0	0	0	0	11	34				
PARD3B	117583	broad.mit.edu	37	2	205986412	205986412	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:205986412G>A	ENST00000406610.2	+	8	1111	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	PARD3B_ENST00000351153.1_Missense_Mutation_p.G302S|PARD3B_ENST00000358768.2_Missense_Mutation_p.G302S|PARD3B_ENST00000349953.3_Missense_Mutation_p.G302S|PARD3B_ENST00000462231.1_Missense_Mutation_p.G302S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	302					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GTCAGTCATTGGCTCTCTTAA	0.463																																						uc002var.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(904-906)GGC>AGC		par-3 partitioning defective 3 homolog B isoform							126.0	120.0	122.0					2																	205986412		1921	4153	6074	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205986412G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.904G>A	2.37:g.205986412G>A	ENSP00000385848:p.Gly302Ser					PARD3B_uc010fub.1_Missense_Mutation_p.G302S|PARD3B_uc002vao.1_Missense_Mutation_p.G302S|PARD3B_uc002vap.1_Missense_Mutation_p.G302S|PARD3B_uc002vaq.1_Missense_Mutation_p.G302S	p.G302S	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	8	1111	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	302					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.904G>A		.	.	.	.	.	.	.	.	.	.	G	8.446	0.851899	0.17034	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.11385	2.96;2.78;2.96;2.96	6.03	5.15	0.70609	.	0.264861	0.43919	D	0.000519	T	0.10294	0.0252	L	0.38175	1.15	0.38356	D	0.944472	P;B;B;P;P	0.43024	0.798;0.102;0.402;0.723;0.723	B;B;B;B;P	0.46237	0.384;0.031;0.119;0.406;0.508	T	0.06445	-1.0826	10	0.02654	T	1	.	10.6372	0.45571	0.1461:0.0:0.8539:0.0	.	302;302;302;302;302	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	S	302	ENSP00000385848:G302S;ENSP00000351618:G302S;ENSP00000317261:G302S;ENSP00000340280:G302S	ENSP00000340280:G302S	G	+	1	0	PARD3B	205694657	1.000000	0.71417	0.884000	0.34674	0.023000	0.10783	3.722000	0.54948	1.558000	0.49541	0.555000	0.69702	GGC		0.463	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		34	38	0	0	0	0	34	38				
MDH1B	130752	broad.mit.edu	37	2	207620081	207620081	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:207620081C>T	ENST00000374412.3	-	5	837	c.562G>A	c.(562-564)Gca>Aca	p.A188T	MDH1B_ENST00000449792.1_Missense_Mutation_p.A90T|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.A188T	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	188					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ACGGGAGATGCCAGGTCTTGG	0.532																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(562-564)GCA>ACA		malate dehydrogenase 1B, NAD (soluble)							97.0	87.0	90.0					2																	207620081		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207620081C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.562G>A	2.37:g.207620081C>T	ENSP00000363533:p.Ala188Thr					MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.A188T|MDH1B_uc010fuj.2_Missense_Mutation_p.A90T|MDH1B_uc002vbt.2_Intron	p.A188T	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	617	-			188					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.562G>A	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645719	0.87958	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.48836	0.8;0.8;0.8	5.68	5.68	0.88126	NAD(P)-binding domain (1);	0.156823	0.56097	D	0.000026	T	0.68476	0.3005	M	0.88377	2.95	0.80722	D	1	P;P	0.39748	0.686;0.558	P;B	0.48227	0.571;0.367	T	0.73190	-0.4061	10	0.87932	D	0	-7.9289	20.1615	0.98135	0.0:1.0:0.0:0.0	.	188;188	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	T	188;90;188	ENSP00000363533:A188T;ENSP00000416577:A90T;ENSP00000389916:A188T	ENSP00000363533:A188T	A	-	1	0	MDH1B	207328326	1.000000	0.71417	0.798000	0.32154	0.016000	0.09150	4.884000	0.63135	2.835000	0.97688	0.650000	0.86243	GCA		0.532	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		17	31	0	0	0	0	17	31				
CRYGB	1419	broad.mit.edu	37	2	209010545	209010545	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:209010545A>G	ENST00000260988.4	-	2	252	c.205T>C	c.(205-207)Tgg>Cgg	p.W69R		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	69	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGGCCCATCCATTGCTGGTAG	0.572																																						uc002vcp.3		NA																	0					0						c.(205-207)TGG>CGG		crystallin, gamma B							45.0	48.0	47.0					2																	209010545		2203	4300	6503	SO:0001583	missense	1419				visual perception		structural constituent of eye lens	g.chr2:209010545A>G		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.205T>C	2.37:g.209010545A>G	ENSP00000260988:p.Trp69Arg						p.W69R	NM_005210	NP_005201	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	2	238	-			69			Beta/gamma crystallin 'Greek key' 2.	Susceptible to oxidation.	Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	c.205T>C	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183243	0.57800	.	.	ENSG00000182187	ENST00000260988	T	0.81078	-1.45	4.71	4.71	0.59529	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.232813	0.47852	D	0.000216	D	0.93959	0.8066	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95674	0.8726	10	0.87932	D	0	.	12.4569	0.55710	1.0:0.0:0.0:0.0	.	69	P07316	CRGB_HUMAN	R	69	ENSP00000260988:W69R	ENSP00000260988:W69R	W	-	1	0	CRYGB	208718790	0.790000	0.28787	1.000000	0.80357	0.870000	0.49936	2.284000	0.43478	2.105000	0.64084	0.448000	0.29417	TGG		0.572	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		21	44	0	0	0	0	21	44				
PIKFYVE	200576	broad.mit.edu	37	2	209153476	209153476	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:209153476A>G	ENST00000264380.4	+	7	1003	c.845A>G	c.(844-846)aAt>aGt	p.N282S	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.N185S|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.N282S|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.N196S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	282					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATTCCTCAAATACTCCTCTT	0.358																																						uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(844-846)AAT>AGT		phosphatidylinositol-3-phosphate 5-kinase type							85.0	84.0	84.0					2																	209153476		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209153476A>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.845A>G	2.37:g.209153476A>G	ENSP00000264380:p.Asn282Ser					PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.N282S|PIKFYVE_uc002vcv.2_Missense_Mutation_p.N185S|PIKFYVE_uc002vcw.2_Missense_Mutation_p.N282S|PIKFYVE_uc002vcx.2_Missense_Mutation_p.N196S	p.N282S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			7	1003	+			282					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.845A>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	9.728	1.161616	0.21538	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.64618	1.65;-0.11;1.78	6.06	-0.415	0.12355	.	0.282880	0.33792	N	0.004560	T	0.30854	0.0778	N	0.14661	0.345	0.09310	N	0.999991	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.001	T	0.09751	-1.0660	10	0.07813	T	0.8	-14.3839	2.3405	0.04259	0.4098:0.2586:0.2365:0.0952	.	282;282;196;282;185	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	S	185;282;282;196;282	ENSP00000264380:N282S;ENSP00000384356:N282S;ENSP00000405736:N282S	ENSP00000264380:N282S	N	+	2	0	PIKFYVE	208861721	0.988000	0.35896	0.752000	0.31206	0.991000	0.79684	0.582000	0.23834	0.136000	0.18733	0.533000	0.62120	AAT		0.358	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		19	29	0	0	0	0	19	29				
SMARCAL1	50485	broad.mit.edu	37	2	217279485	217279485	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:217279485G>T	ENST00000357276.4	+	3	388	c.58G>T	c.(58-60)Gct>Tct	p.A20S	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A20S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	20	Mediates interaction with RPA2.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCGACAAAAGGCTCTGGCCCG	0.493									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(58-60)GCT>TCT		SWI/SNF-related matrix-associated							85.0	97.0	93.0					2																	217279485		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279485G>T	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.58G>T	2.37:g.217279485G>T	ENSP00000349823:p.Ala20Ser					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.A20S|SMARCAL1_uc010fvg.2_Missense_Mutation_p.A20S	p.A20S	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	388	+		Renal(323;0.0458)	20			Potential.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.58G>T	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129227	0.94473	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	L	0.27053	0.805	0.40122	D	0.976615	D	0.63046	0.992	D	0.64410	0.925	T	0.10636	-1.0621	10	0.87932	D	0	-11.4227	18.2606	0.90034	0.0:0.0:1.0:0.0	.	20	Q9NZC9	SMAL1_HUMAN	S	20	ENSP00000405077:A20S;ENSP00000349823:A20S;ENSP00000398969:A20S;ENSP00000350940:A20S;ENSP00000402967:A20S	ENSP00000349823:A20S	A	+	1	0	SMARCAL1	216987730	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.036000	0.76524	2.658000	0.90341	0.563000	0.77884	GCT		0.493	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			53	75	1	0	6.82e-30	1.02e-29	53	75				
LZTS3	9762	broad.mit.edu	37	20	3147647	3147647	+	Missense_Mutation	SNP	C	C	A	rs371702656		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:3147647C>A	ENST00000329152.3	-	1	1560	c.163G>T	c.(163-165)Gtg>Ttg	p.V55L	LZTS3_ENST00000360342.3_Missense_Mutation_p.V55L|LZTS3_ENST00000337576.5_Missense_Mutation_p.V55L			O60299	LZTS3_HUMAN		55						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											CGGGTACCCACGCTCTTCATG	0.736																																						uc002wia.1		NA																	0				pancreas(1)	1						c.(163-165)GTG>TTG		ProSAPiP1 protein							13.0	15.0	15.0					20																	3147647		2196	4285	6481	SO:0001583	missense	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3147647C>A																												ENST00000329152.3:c.163G>T	20.37:g.3147647C>A	ENSP00000332123:p.Val55Leu					ProSAPiP1_uc002wib.1_Missense_Mutation_p.V55L	p.V55L	NM_014731	NP_055546	O60299	PRIP1_HUMAN			1	1561	-			55					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.163G>T	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200920	0.58234	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.48201	1.06;0.82;0.82	4.9	3.94	0.45596	.	0.332027	0.28135	N	0.016475	T	0.41743	0.1172	L	0.50333	1.59	0.54753	D	0.999986	P;P	0.50443	0.935;0.893	B;B	0.41894	0.369;0.203	T	0.33471	-0.9867	10	0.29301	T	0.29	-20.792	13.5665	0.61822	0.0:0.9228:0.0:0.0772	.	55;55	O60299-2;O60299	.;PRIP1_HUMAN	L	55	ENSP00000332123:V55L;ENSP00000353496:V55L;ENSP00000338166:V55L	ENSP00000332123:V55L	V	-	1	0	RP5-1187M17.10	3095647	0.999000	0.42202	0.999000	0.59377	0.756000	0.42949	4.164000	0.58190	2.264000	0.75181	0.561000	0.74099	GTG		0.736	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			11	12	1	0	1.59e-06	1.93e-06	11	12				
TPX2	22974	broad.mit.edu	37	20	30363782	30363782	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:30363782G>A	ENST00000300403.6	+	8	1249	c.721G>A	c.(721-723)Gct>Act	p.A241T	TPX2_ENST00000340513.4_Missense_Mutation_p.A241T	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	241					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTTGCTCTGGCTGGAATAGG	0.388																																						uc002wwp.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(721-723)GCT>ACT		TPX2, microtubule-associated protein homolog							116.0	116.0	116.0					20																	30363782		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30363782G>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.721G>A	20.37:g.30363782G>A	ENSP00000300403:p.Ala241Thr					TPX2_uc010gdv.1_Missense_Mutation_p.A241T	p.A241T	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		8	1419	+			241					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.721G>A	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218261	0.39201	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.36878	1.23	4.67	2.67	0.31697	.	0.196596	0.43416	D	0.000567	T	0.21631	0.0521	L	0.41236	1.265	0.42593	D	0.993259	P;P	0.42692	0.615;0.787	B;B	0.33121	0.069;0.158	T	0.03576	-1.1023	10	0.30854	T	0.27	-7.2482	7.1784	0.25757	0.0787:0.0:0.612:0.3093	.	241;241	Q96RR5;Q9ULW0	.;TPX2_HUMAN	T	241	ENSP00000341145:A241T	ENSP00000300403:A241T	A	+	1	0	TPX2	29827443	1.000000	0.71417	0.988000	0.46212	0.586000	0.36452	4.864000	0.62990	0.854000	0.35336	0.655000	0.94253	GCT		0.388	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			33	42	0	0	0	0	33	42				
GHRH	2691	broad.mit.edu	37	20	35885221	35885221	+	Silent	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:35885221A>T	ENST00000373614.2	-	2	183	c.72T>A	c.(70-72)ccT>ccA	p.P24P	GHRH_ENST00000237527.3_Silent_p.P24P|GHRH_ENST00000373611.2_Silent_p.P24P			P01286	SLIB_HUMAN	growth hormone releasing hormone	24					adenohypophysis development (GO:0021984)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|growth hormone secretion (GO:0030252)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|response to food (GO:0032094)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	growth hormone-releasing hormone activity (GO:0016608)|growth hormone-releasing hormone receptor binding (GO:0031770)			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TGAGGGTCAAAGGGGGAGGTG	0.602																																						uc002xgr.2		NA																	0				ovary(1)	1						c.(70-72)CCT>CCA		growth hormone releasing hormone preproprotein							54.0	44.0	47.0					20																	35885221		2203	4300	6503	SO:0001819	synonymous_variant	2691				activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding	g.chr20:35885221A>T		CCDS13292.1, CCDS54460.1	20q11.2	2014-01-30			ENSG00000118702	ENSG00000118702		"""Endogenous ligands"""	4265	protein-coding gene	gene with protein product	"""sermorelin"", ""somatocrinin"", ""somatoliberin"""	139190		GHRF		3918305	Standard	NM_021081		Approved		uc002xgr.3	P01286	OTTHUMG00000032413	ENST00000373614.2:c.72T>A	20.37:g.35885221A>T						GHRH_uc002xgs.2_Silent_p.P24P|GHRH_uc002xgt.2_Silent_p.P24P	p.P24P	NM_021081	NP_066567	P01286	SLIB_HUMAN			1	72	-		Myeloproliferative disorder(115;0.00878)	24					Q4KN10|Q5JYR1	Silent	SNP	ENST00000373614.2	37	c.72T>A	CCDS13292.1																																																																																				0.602	GHRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079094.2			10	36	0	0	0	0	10	36				
MAFB	9935	broad.mit.edu	37	20	39316726	39316726	+	Missense_Mutation	SNP	G	G	C	rs541401457		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:39316726G>C	ENST00000373313.2	-	1	1154	c.765C>G	c.(763-765)tgC>tgG	p.C255W	MAFB_ENST00000396967.1_Missense_Mutation_p.C255W	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	255	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GTTTATACCTGCAAGACTGGG	0.622			T	IGH@	MM																																	uc002xji.2		NA		Dom	yes		20	20q11.2-q13.1	9935	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)			L	IGH@		MM		0					0						c.(763-765)TGC>TGG		transcription factor MAFB							38.0	38.0	38.0					20																	39316726		2203	4300	6503	SO:0001583	missense	9935				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr20:39316726G>C	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.765C>G	20.37:g.39316726G>C	ENSP00000362410:p.Cys255Trp						p.C255W	NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN			1	1151	-		Myeloproliferative disorder(115;0.00878)	255			Basic motif.		B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	c.765C>G	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621714	0.66787	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.92965	-3.14;-3.14	4.68	4.68	0.58851	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98225	1.0480	10	0.87932	D	0	-16.5462	17.8465	0.88731	0.0:0.0:1.0:0.0	.	255	Q9Y5Q3	MAFB_HUMAN	W	255	ENSP00000362410:C255W;ENSP00000380167:C255W	ENSP00000362410:C255W	C	-	3	2	MAFB	38750140	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.527000	0.73803	2.462000	0.83206	0.456000	0.33151	TGC		0.622	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			31	31	0	0	0	0	31	31				
PTPRT	11122	broad.mit.edu	37	20	40735527	40735527	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:40735527T>C	ENST00000373187.1	-	24	3288	c.3289A>G	c.(3289-3291)Att>Gtt	p.I1097V	PTPRT_ENST00000373184.1_Missense_Mutation_p.I1107V|PTPRT_ENST00000373201.1_Missense_Mutation_p.I1087V|PTPRT_ENST00000373190.1_Missense_Mutation_p.I1096V|PTPRT_ENST00000356100.2_Missense_Mutation_p.I1106V|PTPRT_ENST00000373193.3_Missense_Mutation_p.I1100V|PTPRT_ENST00000373198.4_Missense_Mutation_p.I1116V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1097	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGGTGTCAATGGCAATGAAG	0.582																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(3289-3291)ATT>GTT		protein tyrosine phosphatase, receptor type, T							68.0	79.0	76.0					20																	40735527		2094	4244	6338	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735527T>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3289A>G	20.37:g.40735527T>C	ENSP00000362283:p.Ile1097Val					PTPRT_uc010ggj.2_Missense_Mutation_p.I1116V|PTPRT_uc010ggi.2_Missense_Mutation_p.I300V	p.I1097V	NM_007050	NP_008981	O14522	PTPRT_HUMAN			24	3473	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1097			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3289A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.687696	0.48097	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.3	5.3	0.74995	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.055322	0.64402	D	0.000001	T	0.82162	0.4977	L	0.45744	1.44	0.58432	D	0.999998	B;B	0.09022	0.002;0.002	B;B	0.16722	0.01;0.016	T	0.79125	-0.1932	10	0.62326	D	0.03	.	15.5298	0.75948	0.0:0.0:0.0:1.0	.	1119;1097	O14522-1;O14522	.;PTPRT_HUMAN	V	1096;1097;1100;1106;1119;1107;1087	ENSP00000362286:I1096V;ENSP00000362283:I1097V;ENSP00000362289:I1100V;ENSP00000348408:I1106V;ENSP00000362294:I1119V;ENSP00000362280:I1107V;ENSP00000362297:I1087V	ENSP00000348408:I1106V	I	-	1	0	PTPRT	40168941	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	2.124000	0.42006	2.131000	0.65755	0.482000	0.46254	ATT		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			53	34	0	0	0	0	53	34				
ADA	100	broad.mit.edu	37	20	43251265	43251265	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:43251265C>A	ENST00000372874.4	-	9	943	c.809G>T	c.(808-810)gGt>gTt	p.G270V	PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|ADA_ENST00000537820.1_Missense_Mutation_p.G246V	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	270					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTTCCAGGCACCAGTGAGGTA	0.592									Adenosine Deaminase Deficiency																													uc002xmj.2		NA																	0				pancreas(2)|ovary(1)	3						c.(808-810)GGT>GTT		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						52.0	50.0	51.0					20																	43251265		2203	4300	6503	SO:0001583	missense	100	Adenosine_Deaminase_Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43251265C>A	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.809G>T	20.37:g.43251265C>A	ENSP00000361965:p.Gly270Val					ADA_uc010ggt.2_Intron	p.G270V	NM_000022	NP_000013	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		9	937	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	270					Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	37	c.809G>T	CCDS13335.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707037	0.68615	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.97752	-4.52;-4.52	4.88	3.93	0.45458	Adenosine/AMP deaminase (1);	0.147721	0.64402	N	0.000009	D	0.98966	0.9648	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99494	1.0951	10	0.87932	D	0	-27.1848	14.4576	0.67428	0.1484:0.8516:0.0:0.0	.	270	P00813	ADA_HUMAN	V	270;246	ENSP00000361965:G270V;ENSP00000441818:G246V	ENSP00000361965:G270V	G	-	2	0	ADA	42684679	0.996000	0.38824	0.563000	0.28383	0.850000	0.48378	6.276000	0.72601	1.023000	0.39654	-0.314000	0.08810	GGT		0.592	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		20	14	1	0	4.35e-09	5.63e-09	20	14				
NEURL2	140825	broad.mit.edu	37	20	44519214	44519214	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:44519214T>C	ENST00000372518.4	-	1	712	c.417A>G	c.(415-417)ccA>ccG	p.P139P	CTSA_ENST00000372484.3_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000372459.2_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	139	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CGAGGAGGGTTGGAGGTCGGC	0.701																																						uc002xqg.1		NA																	0					0						c.(415-417)CCA>CCG		neuralized-like protein 2							20.0	26.0	24.0					20																	44519214		2197	4292	6489	SO:0001819	synonymous_variant	140825				intracellular signal transduction			g.chr20:44519214T>C	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.417A>G	20.37:g.44519214T>C						C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	p.P139P	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN			1	688	-		Myeloproliferative disorder(115;0.0122)	139			NHR.		Q3KR34	Silent	SNP	ENST00000372518.4	37	c.417A>G	CCDS13384.1																																																																																				0.701	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			28	20	0	0	0	0	28	20				
SLC12A5	57468	broad.mit.edu	37	20	44685832	44685832	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:44685832T>A	ENST00000454036.2	+	25	3267	c.3218T>A	c.(3217-3219)aTg>aAg	p.M1073K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.M1050K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1073					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGCGGCGCATGCACACGGCC	0.637																																						uc010zxl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(3217-3219)ATG>AAG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						62.0	63.0	63.0					20																	44685832		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685832T>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3218T>A	20.37:g.44685832T>A	ENSP00000387694:p.Met1073Lys					SLC12A5_uc002xrb.2_Missense_Mutation_p.M1050K	p.M1073K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			25	3294	+		Myeloproliferative disorder(115;0.0122)	1073			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.3218T>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482354	0.84747	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.52754	0.65;0.65	4.68	4.68	0.58851	.	0.113042	0.64402	D	0.000004	T	0.70876	0.3274	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.71870	0.961;0.975	T	0.77313	-0.2634	10	0.87932	D	0	.	13.4905	0.61393	0.0:0.0:0.0:1.0	.	1073;1050	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	K	1073;1050	ENSP00000387694:M1073K;ENSP00000243964:M1050K	ENSP00000243964:M1050K	M	+	2	0	SLC12A5	44119239	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.347000	0.79356	1.963000	0.57068	0.459000	0.35465	ATG		0.637	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			50	39	0	0	0	0	50	39				
DOK5	55816	broad.mit.edu	37	20	53260098	53260098	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr20:53260098A>G	ENST00000262593.5	+	7	1187	c.837A>G	c.(835-837)ggA>ggG	p.G279G	DOK5_ENST00000395939.1_Silent_p.G171G	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	279					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ACAGCACGGGACAGCTCTACC	0.652																																						uc002xwy.2		NA																	0				ovary(1)	1						c.(835-837)GGA>GGG		docking protein 5							49.0	44.0	46.0					20																	53260098		2203	4300	6503	SO:0001819	synonymous_variant	55816						insulin receptor binding	g.chr20:53260098A>G	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.837A>G	20.37:g.53260098A>G						DOK5_uc010gin.2_Silent_p.G171G|DOK5_uc002xwz.2_Silent_p.G141G	p.G279G	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		7	1057	+			279					Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Silent	SNP	ENST00000262593.5	37	c.837A>G	CCDS13446.1																																																																																				0.652	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			10	45	0	0	0	0	10	45				
NCAM2	4685	broad.mit.edu	37	21	22746287	22746287	+	Silent	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:22746287A>C	ENST00000400546.1	+	9	1398	c.1149A>C	c.(1147-1149)gcA>gcC	p.A383A	NCAM2_ENST00000535285.1_Silent_p.A408A|NCAM2_ENST00000284894.7_Silent_p.A241A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	383	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTGAAGCTGCAAGCAGAATTG	0.393																																						uc002yld.1		NA																	0				ovary(4)	4						c.(1147-1149)GCA>GCC		neural cell adhesion molecule 2 precursor							170.0	163.0	165.0					21																	22746287		1912	4140	6052	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22746287A>C		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1149A>C	21.37:g.22746287A>C						NCAM2_uc011acb.1_Silent_p.A241A|NCAM2_uc011acc.1_Silent_p.A408A	p.A383A	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	9	1398	+		Lung NSC(9;0.195)	383			Ig-like C2-type 4.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1149A>C	CCDS42910.1																																																																																				0.393	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		12	43	0	0	0	0	12	43				
SON	6651	broad.mit.edu	37	21	34923211	34923211	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:34923211G>T	ENST00000356577.4	+	3	2149	c.1674G>T	c.(1672-1674)ctG>ctT	p.L558L	SON_ENST00000290239.6_Silent_p.L558L|SON_ENST00000300278.4_Silent_p.L558L|SON_ENST00000381679.4_Silent_p.L558L|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	558					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CGACAGCGCTGGAGTTGCCGG	0.647																																						uc002yse.1		NA																	0				ovary(4)|skin(2)	6						c.(1672-1674)CTG>CTT		SON DNA-binding protein isoform F							36.0	41.0	40.0					21																	34923211		2200	4295	6495	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923211G>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1674G>T	21.37:g.34923211G>T						SON_uc002ysb.1_Silent_p.L558L|SON_uc002ysc.2_Silent_p.L558L|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.L558L	NM_138927	NP_620305	P18583	SON_HUMAN			3	1723	+			558					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.1674G>T	CCDS13629.1																																																																																				0.647	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		25	82	1	0	2.22e-12	3.02e-12	25	82				
DSCAM	1826	broad.mit.edu	37	21	41450794	41450794	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:41450794G>T	ENST00000400454.1	-	26	5008	c.4531C>A	c.(4531-4533)Cta>Ata	p.L1511I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1511	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGTACTCTAGTGTGAAGGAG	0.557																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(4531-4533)CTA>ATA		Down syndrome cell adhesion molecule isoform							42.0	48.0	46.0					21																	41450794		2060	4211	6271	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41450794G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4531C>A	21.37:g.41450794G>T	ENSP00000383303:p.Leu1511Ile					DSCAM_uc002yyr.1_RNA	p.L1511I	NM_001389	NP_001380	O60469	DSCAM_HUMAN			26	4983	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1511			Extracellular (Potential).|Fibronectin type-III 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4531C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904125	0.52333	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.52057	0.68;0.68	4.33	4.33	0.51752	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.57140	0.2033	L	0.41356	1.27	0.38767	D	0.954457	D	0.76494	0.999	D	0.80764	0.994	T	0.51553	-0.8691	10	0.11485	T	0.65	.	17.3858	0.87415	0.0:0.0:1.0:0.0	.	1511	O60469	DSCAM_HUMAN	I	1511;1263	ENSP00000383303:L1511I;ENSP00000385342:L1263I	ENSP00000383303:L1511I	L	-	1	2	DSCAM	40372664	1.000000	0.71417	0.277000	0.24703	0.964000	0.63967	5.398000	0.66308	2.397000	0.81536	0.563000	0.77884	CTA		0.557	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		8	28	1	0	0.000157383	0.000179846	8	28				
FTCD	10841	broad.mit.edu	37	21	47557204	47557204	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr21:47557204G>A	ENST00000291670.5	-	13	1531	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	FTCD_ENST00000359679.2_Silent_p.F496F|FTCD_ENST00000397748.1_Silent_p.F496F|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Nonsense_Mutation_p.Q482*|FTCD_ENST00000397743.1_Nonsense_Mutation_p.Q482*|FTCD_ENST00000397746.3_Silent_p.F496F	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	496	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	TGAGCACGTTGAAATATGCGC	0.607																																						uc002zif.2		NA																	0				pancreas(1)|skin(1)	2						c.(1486-1488)TTC>TTT		formiminotransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						170.0	159.0	163.0					21																	47557204		2203	4300	6503	SO:0001819	synonymous_variant	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47557204G>A	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1488C>T	21.37:g.47557204G>A						FTCD_uc002zie.2_RNA|FTCD_uc002zig.2_Silent_p.F496F|FTCD_uc002zih.2_Silent_p.F496F|FTCD_uc010gqf.2_Nonsense_Mutation_p.Q482*|FTCD_uc010gqg.1_Silent_p.F365F	p.F496F	NM_006657	NP_006648	O95954	FTCD_HUMAN		Colorectal(79;0.235)	13	1532	-	Breast(49;0.214)		496			Cyclodeaminase/cyclohydrolase (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	ENST00000291670.5	37	c.1488C>T	CCDS13731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.50|19.50	3.839262|3.839262	0.71373|0.71373	.|.	.|.	ENSG00000160282|ENSG00000160282	ENST00000355384;ENST00000397743|ENST00000446405	.|.	.|.	.|.	4.19|4.19	3.3|3.3	0.37823|0.37823	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44138	.|0.1279	.|.	.|.	.|.	0.50813|0.50813	A|A	0.999894|0.999894	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53041	.|-0.8494	.|3	0.31617|.	T|.	0.26|.	.|.	7.9517|7.9517	0.30019|0.30019	0.2656:0.0:0.7344:0.0|0.2656:0.0:0.7344:0.0	.|.	.|.	.|.	.|.	X|L	482|37	.|.	ENSP00000347545:Q482X|.	Q|S	-|-	1|2	0|0	FTCD|FTCD	46381632|46381632	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.200000|0.200000	0.23975|0.23975	2.427000|2.427000	0.44740|0.44740	0.747000|0.747000	0.32809|0.32809	0.455000|0.455000	0.32223|0.32223	CAA|TCA		0.607	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		45	131	0	0	0	0	45	131				
CECR6	27439	broad.mit.edu	37	22	17601355	17601355	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:17601355G>T	ENST00000331437.3	-	1	788	c.663C>A	c.(661-663)gcC>gcA	p.A221A	CECR6_ENST00000399875.1_Intron|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	221										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GGTCGGTGACGGCGATGAGGT	0.706																																						uc002zmb.2		NA																	0					0						c.(661-663)GCC>GCA		cat eye syndrome chromosome region, candidate 6							14.0	15.0	15.0					22																	17601355		2186	4281	6467	SO:0001819	synonymous_variant	27439							g.chr22:17601355G>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.663C>A	22.37:g.17601355G>T						CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	p.A221A	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	859	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	221					A8MYY1	Silent	SNP	ENST00000331437.3	37	c.663C>A	CCDS13740.1																																																																																				0.706	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		4	20	1	0	0.00909568	0.00976828	4	20				
DGCR14	8220	broad.mit.edu	37	22	19121856	19121856	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:19121856G>T	ENST00000252137.6	-	10	1327	c.1284C>A	c.(1282-1284)ctC>ctA	p.L428L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	428					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCGGGGTCTTGAGGTGGGTGG	0.687																																						uc002zou.2		NA																	0				ovary(1)	1						c.(1282-1284)CTC>CTA		DiGeorge syndrome critical region protein 14							74.0	68.0	70.0					22																	19121856		2203	4300	6503	SO:0001819	synonymous_variant	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19121856G>T	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1284C>A	22.37:g.19121856G>T						DGCR14_uc002zot.2_Silent_p.L349L|DGCR14_uc002zov.2_RNA	p.L428L	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN			10	1321	-	Colorectal(54;0.0993)		428					Q49AH7|Q9BTZ4	Silent	SNP	ENST00000252137.6	37	c.1284C>A	CCDS13756.1																																																																																				0.687	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			10	30	1	0	7.48e-07	9.15e-07	10	30				
ADORA2A	135	broad.mit.edu	37	22	24829704	24829704	+	Splice_Site	SNP	G	G	T	rs371239469		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:24829704G>T	ENST00000337539.7	+	2	791	c.332G>T	c.(331-333)cGg>cTg	p.R111L	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	111					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	ATCCCGCTCCGGTGAGCAGGG	0.622																																						uc002zzx.2		NA																	0					0						c.(331-333)CGG>CTG		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						45.0	41.0	42.0					22																	24829704		2203	4300	6503	SO:0001630	splice_region_variant	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24829704G>T	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.332+1G>T	22.37:g.24829704G>T						ADORA2A_uc002zzy.3_Missense_Mutation_p.R111L|ADORA2A_uc011ajs.1_Intron|C22orf45_uc003aaa.1_5'Flank|ADORA2A_uc010guo.1_3'UTR|ADORA2A_uc010gup.2_Missense_Mutation_p.R111L|ADORA2A_uc010guq.2_Missense_Mutation_p.R111L|ADORA2A_uc003aab.2_Missense_Mutation_p.R111L|ADORA2A_uc003aac.2_5'UTR	p.R111L	NM_000675	NP_000666	P29274	AA2AR_HUMAN			4	1095	+	Colorectal(2;0.196)		111			Cytoplasmic.		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.332G>T	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762262	0.89932	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.39787	1.06;1.06	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	M	0.67397	2.05	0.80722	D	1	D	0.63880	0.993	P	0.61800	0.894	T	0.65372	-0.6184	10	0.72032	D	0.01	-28.2684	16.2847	0.82712	0.0:0.0:1.0:0.0	.	111	P29274	AA2AR_HUMAN	L	111	ENSP00000414802:R111L;ENSP00000336630:R111L	ENSP00000336630:R111L	R	+	2	0	ADORA2A	23159704	1.000000	0.71417	0.999000	0.59377	0.534000	0.34807	9.422000	0.97458	2.314000	0.78098	0.561000	0.74099	CGG		0.622	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675	Missense_Mutation	10	46	1	0	1.09e-07	1.36e-07	10	46				
MYO18B	84700	broad.mit.edu	37	22	26422934	26422934	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:26422934G>T	ENST00000407587.2	+	43	7166	c.6997G>T	c.(6997-6999)Gac>Tac	p.D2333Y	MYO18B_ENST00000335473.7_Missense_Mutation_p.D2332Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2332Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2332						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATCTCTTCAGACGGTGTTGG	0.557																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6994-6996)GAC>TAC		myosin XVIIIB							44.0	51.0	49.0					22																	26422934		1911	4118	6029	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422934G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6997G>T	22.37:g.26422934G>T	ENSP00000386096:p.Asp2333Tyr					MYO18B_uc003aca.1_Missense_Mutation_p.D2213Y|MYO18B_uc010guy.1_Missense_Mutation_p.D2214Y|MYO18B_uc010guz.1_Missense_Mutation_p.D2212Y|MYO18B_uc011aka.1_Missense_Mutation_p.D1486Y|MYO18B_uc011akb.1_Missense_Mutation_p.D1845Y|MYO18B_uc010gva.1_Missense_Mutation_p.D315Y|MYO18B_uc010gvb.1_RNA	p.D2332Y	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7244	+			2332					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6994G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.80|10.80	1.452223|1.452223	0.26074|0.26074	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88431|.	-2.36;-2.36;-2.38|.	4.89|4.89	1.55|1.55	0.23275|0.23275	.|.	2.531540|.	0.02085|.	N|.	0.052697|.	T|T	0.20129|0.20129	0.0484|0.0484	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	P;P;P;P;P|.	0.49559|.	0.874;0.877;0.877;0.925;0.925|.	B;B;B;P;P|.	0.48141|.	0.444;0.365;0.365;0.568;0.568|.	T|T	0.27365|0.27365	-1.0076|-1.0076	10|5	0.87932|.	D|.	0|.	.|.	6.702|6.702	0.23230|0.23230	0.1621:0.2932:0.5447:0.0|0.1621:0.2932:0.5447:0.0	.|.	1845;2334;2332;2333;2332|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	Y|H	2332;2332;2333|281	ENSP00000441229:D2332Y;ENSP00000334563:D2332Y;ENSP00000386096:D2333Y|.	ENSP00000334563:D2332Y|.	D|Q	+|+	1|3	0|2	MYO18B|MYO18B	24752934|24752934	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.306000|0.306000	0.27790|0.27790	1.030000|1.030000	0.30153|0.30153	0.109000|0.109000	0.17891|0.17891	0.462000|0.462000	0.41574|0.41574	GAC|CAG		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		18	67	1	0	1.03e-11	1.39e-11	18	67				
EWSR1	2130	broad.mit.edu	37	22	29684763	29684763	+	Missense_Mutation	SNP	G	G	T	rs71329463		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:29684763G>T	ENST00000397938.2	+	8	1281	c.962G>T	c.(961-963)cGc>cTc	p.R321L	EWSR1_ENST00000414183.2_Missense_Mutation_p.R327L|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000332035.6_Missense_Mutation_p.R265L|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.R321L|EWSR1_ENST00000333395.6_Missense_Mutation_p.R321L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	321	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGAGGACGCGGTGGAATG	0.512			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	uc003aet.2		NA		Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1		Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma	EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	0				bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						c.(961-963)CGC>CTC		Ewing sarcoma breakpoint region 1 isoform 2							26.0	25.0	26.0					22																	29684763		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29684763G>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.962G>T	22.37:g.29684763G>T	ENSP00000381031:p.Arg321Leu					EWSR1_uc003aes.3_Missense_Mutation_p.R321L|EWSR1_uc003aev.2_Missense_Mutation_p.R327L|EWSR1_uc003aew.2_Missense_Mutation_p.R265L|EWSR1_uc003aex.2_Missense_Mutation_p.R321L|EWSR1_uc003aey.2_Missense_Mutation_p.R116L|EWSR1_uc003aez.2_5'Flank	p.R321L	NM_005243	NP_005234	Q01844	EWS_HUMAN			8	1290	+			321			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.962G>T	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581754	0.28180	.	.	ENSG00000182944	ENST00000397938;ENST00000406548;ENST00000414183;ENST00000333395;ENST00000332035	D;D;D;D	0.95885	-3.68;-3.83;-3.84;-3.73	5.94	5.94	0.96194	.	0.000000	0.85682	U	0.000000	D	0.92044	0.7479	L	0.39147	1.195	0.80722	D	1	P;P;P;P;P;B	0.43024	0.798;0.664;0.664;0.664;0.664;0.1	B;B;B;B;B;B	0.32149	0.139;0.139;0.139;0.141;0.098;0.083	D	0.91378	0.5125	10	0.38643	T	0.18	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	265;321;265;327;321;321	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;.;EWS_HUMAN;.	L	321;321;327;321;265	ENSP00000381031:R321L;ENSP00000385726:R321L;ENSP00000400142:R327L;ENSP00000331699:R265L	ENSP00000331699:R265L	R	+	2	0	EWSR1	28014763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.139000	0.71728	2.820000	0.97059	0.650000	0.86243	CGC		0.512	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		4	19	1	0	0.00909568	0.00976828	4	19				
GAL3ST1	9514	broad.mit.edu	37	22	30951150	30951150	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:30951150G>A	ENST00000402321.1	-	3	1379	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	GAL3ST1_ENST00000402369.1_Silent_p.A354A|GAL3ST1_ENST00000406361.1_Silent_p.A354A|GAL3ST1_ENST00000338911.5_Silent_p.A354A|GAL3ST1_ENST00000443111.2_Silent_p.A354A|GAL3ST1_ENST00000406955.1_Silent_p.A354A|GAL3ST1_ENST00000401975.1_Silent_p.A354A			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	354					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGATGGCGGCGGCGTCCACGG	0.716																																						uc003aig.1		NA																	0					0						c.(1060-1062)GCC>GCT		galactose-3-O-sulfotransferase 1							26.0	26.0	26.0					22																	30951150		2200	4295	6495	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951150G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1062C>T	22.37:g.30951150G>A						GAL3ST1_uc003aih.1_Silent_p.A354A|GAL3ST1_uc003aii.1_Silent_p.A354A|GAL3ST1_uc010gvz.1_Silent_p.A354A	p.A354A	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	1202	-			354			Lumenal (Potential).		Q96C63	Silent	SNP	ENST00000402321.1	37	c.1062C>T	CCDS13879.1																																																																																				0.716	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		19	39	0	0	0	0	19	39				
SLC5A4	6527	broad.mit.edu	37	22	32651265	32651265	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:32651265G>C	ENST00000266086.4	-	1	63	c.52C>G	c.(52-54)Cca>Gca	p.P18A	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	18					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCAGACAATGGAGGTGGCTCT	0.522											OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003ami.2		NA																	0					0						c.(52-54)CCA>GCA		solute carrier family 5 (low affinity glucose							321.0	268.0	286.0					22																	32651265		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32651265G>C	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.52C>G	22.37:g.32651265G>C	ENSP00000266086:p.Pro18Ala		OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	834		p.P18A	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			1	54	-			18			Cytoplasmic (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.52C>G	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	3.709	-0.059945	0.07317	.	.	ENSG00000100191	ENST00000266086	D	0.84873	-1.91	5.26	-3.66	0.04489	.	2.124020	0.01761	N	0.030588	T	0.69106	0.3074	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61476	-0.7055	10	0.07644	T	0.81	.	7.089	0.25273	0.1134:0.1843:0.6109:0.0914	.	18	Q9NY91	SC5A4_HUMAN	A	18	ENSP00000266086:P18A	ENSP00000266086:P18A	P	-	1	0	SLC5A4	30981265	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.494000	0.06451	-0.322000	0.08615	-0.171000	0.13296	CCA		0.522	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		71	209	0	0	0	0	71	209				
CYP2D6	1565	broad.mit.edu	37	22	42525169	42525169	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:42525169T>C	ENST00000360608.5	-	3	485	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|CYP2D6_ENST00000389970.3_Missense_Mutation_p.Y124C	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	124					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.Y124C(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CGCGGGCCCATAGCGCGCCAG	0.682																																						uc003bce.2		NA																	1	Substitution - Missense(1)		endometrium(1)	breast(1)|skin(1)	2						c.(370-372)TAT>TGT		cytochrome P450, family 2, subfamily D,							21.0	25.0	24.0					22																	42525169		2030	4168	6198	SO:0001583	missense	1565						electron carrier activity|heme binding|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	g.chr22:42525169T>C	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.371A>G	22.37:g.42525169T>C	ENSP00000353820:p.Tyr124Cys					uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Intron	p.Y124C	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			3	461	-			124					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.371A>G	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	t	13.52	2.260762	0.39995	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.69435	-0.4;-0.4	4.18	0.311	0.15831	.	0.338929	0.24169	N	0.040909	T	0.68366	0.2993	M	0.88906	2.99	0.09310	N	1	P	0.37525	0.598	B	0.40940	0.344	T	0.63919	-0.6528	10	0.87932	D	0	.	5.7319	0.18045	0.1562:0.0:0.3211:0.5227	.	124	Q6NWU0	.	C	124;124;73	ENSP00000353820:Y124C;ENSP00000374620:Y124C	ENSP00000353820:Y124C	Y	-	2	0	CYP2D6	40855113	0.011000	0.17503	0.001000	0.08648	0.007000	0.05969	1.698000	0.37794	0.193000	0.20303	0.254000	0.18369	TAT		0.682	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			19	33	0	0	0	0	19	33				
CYB5R3	1727	broad.mit.edu	37	22	43015836	43015836	+	Silent	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:43015836G>C	ENST00000352397.5	-	9	1101	c.849C>G	c.(847-849)gcC>gcG	p.A283A	CYB5R3_ENST00000407623.3_Silent_p.A260A|CYB5R3_ENST00000407332.1_Silent_p.A260A|CYB5R3_ENST00000402438.1_Silent_p.A260A|CYB5R3_ENST00000396303.3_Silent_p.A260A|CYB5R3_ENST00000361740.4_Silent_p.A316A	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	283					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	TGGGAAGGCAGGCGTACTGGA	0.682																																						uc003bcz.2		NA																	0				skin(1)	1						c.(847-849)GCC>GCG		cytochrome b5 reductase 3 isoform m	NADH(DB00157)						34.0	36.0	36.0					22																	43015836		2201	4299	6500	SO:0001819	synonymous_variant	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43015836G>C	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.849C>G	22.37:g.43015836G>C						CYB5R3_uc010gzc.1_Silent_p.A157A|CYB5R3_uc003bcw.2_Silent_p.A273A|CYB5R3_uc011aps.1_Silent_p.A316A|CYB5R3_uc003bcy.2_Silent_p.A260A|CYB5R3_uc003bcx.2_Silent_p.A260A	p.A283A	NM_000398	NP_000389	P00387	NB5R3_HUMAN			9	933	-			283					B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Silent	SNP	ENST00000352397.5	37	c.849C>G	CCDS33658.1																																																																																				0.682	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			6	17	0	0	0	0	6	17				
IL17REL	400935	broad.mit.edu	37	22	50439538	50439538	+	Missense_Mutation	SNP	G	G	C	rs147243670		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:50439538G>C	ENST00000389983.2	-	4	346	c.82C>G	c.(82-84)Cgt>Ggt	p.R28G	IL17REL_ENST00000341280.5_Missense_Mutation_p.R28G	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	28										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCGTACACGCAGGAGCATC	0.652																																						uc003bje.1		NA																	0				pancreas(1)	1						c.(82-84)CGT>GGT		interleukin 17 receptor E-like			GLY/ARG	0,4388		0,0,2194	39.0	31.0	34.0		82	2.0	0.1	22	dbSNP_134	34	1,8587		0,1,4293	no	missense	IL17REL	NM_001001694.2	125	0,1,6487	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging	28/337	50439538	1,12975	2194	4294	6488	SO:0001583	missense	400935							g.chr22:50439538G>C	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.82C>G	22.37:g.50439538G>C	ENSP00000374633:p.Arg28Gly						p.R28G	NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	4	314	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	28					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.82C>G	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.763662	0.31228	0.0	1.16E-4	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.26067	1.76;1.76	3.16	2.03	0.26663	.	0.606522	0.14777	U	0.298998	T	0.18425	0.0442	L	0.40543	1.245	0.09310	N	1	P	0.41748	0.761	B	0.38378	0.272	T	0.11470	-1.0586	10	0.56958	D	0.05	.	6.4872	0.22095	0.0:0.0:0.6826:0.3174	.	28	Q6ZVW7	I17EL_HUMAN	G	28	ENSP00000374633:R28G;ENSP00000342520:R28G	ENSP00000342520:R28G	R	-	1	0	IL17REL	48781665	0.396000	0.25262	0.097000	0.21041	0.053000	0.15095	1.299000	0.33424	1.591000	0.50007	0.651000	0.88453	CGT		0.652	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		8	14	0	0	0	0	8	14				
CHKB	1120	broad.mit.edu	37	22	51018496	51018496	+	Silent	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr22:51018496C>G	ENST00000406938.2	-	8	1051	c.834G>C	c.(832-834)ggG>ggC	p.G278G	CPT1B_ENST00000440709.1_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CPT1B_ENST00000405237.3_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CPT1B_ENST00000395650.2_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CHKB_ENST00000463053.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	278					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AAAAATGGTTCCCAATGTCAA	0.493																																						uc003bms.2		NA																	0					0						c.(832-834)GGG>GGC		choline kinase beta	Choline(DB00122)						82.0	88.0	86.0					22																	51018496		2203	4300	6503	SO:0001819	synonymous_variant	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51018496C>G	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.834G>C	22.37:g.51018496C>G						CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Silent_p.G69G|CHKB-CPT1B_uc003bmu.2_Silent_p.G157G|CHKB_uc003bmv.2_Silent_p.G278G|LOC100144603_uc003bmw.3_5'Flank	p.G278G	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	8	1052	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	278					A0PJM6|Q13388	Silent	SNP	ENST00000406938.2	37	c.834G>C	CCDS14099.1																																																																																				0.493	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198		37	104	0	0	0	0	37	104				
GRIP2	80852	broad.mit.edu	37	3	14555833	14555833	+	RNA	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:14555833A>C	ENST00000273083.3	-	0	1524							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GATGAAGCACACGAGGGGTGG	0.642																																						uc011avi.1		NA																	0				pancreas(1)	1						c.(1753-1755)GTG>GGG		glutamate receptor interacting protein 2							13.0	17.0	16.0					3																	14555833		2081	4214	6295			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555833A>C	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555833A>C						GRIP2_uc010heh.2_5'Flank|GRIP2_uc011avh.1_Missense_Mutation_p.V116G	p.V585G	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			13	1754	-			487			PDZ 4.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.1754T>G																																																																																					0.642	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		3	3	0	0	0	0	3	3				
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:25835674G>A	ENST00000280701.3	+	3	1168	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	OXSM_ENST00000420173.2_Missense_Mutation_p.A274T	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453																																						uc003cdn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1069-1071)GCT>ACT		3-oxoacyl-ACP synthase, mitochondrial isoform 1							99.0	84.0	89.0					3																	25835674		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25835674G>A	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.1069G>A	3.37:g.25835674G>A	ENSP00000280701:p.Ala357Thr					OXSM_uc011awp.1_Missense_Mutation_p.A82T|OXSM_uc010hfh.2_Missense_Mutation_p.A274T	p.A357T	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			3	1176	+			357						Missense_Mutation	SNP	ENST00000280701.3	37	c.1069G>A	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574923	0.65878	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	5.52	4.62	0.57501	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.101773	0.64402	D	0.000002	T	0.57829	0.2080	L	0.56280	1.765	0.40690	D	0.982385	P;P	0.45672	0.56;0.864	P;P	0.47251	0.542;0.52	T	0.53823	-0.8384	9	0.15499	T	0.54	-20.6624	15.7279	0.77777	0.0:0.0:0.8629:0.1371	.	274;357	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	T	357;274	.	ENSP00000280701:A357T	A	+	1	0	OXSM	25810678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.694000	0.84235	2.590000	0.87494	0.655000	0.94253	GCT		0.453	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		18	21	0	0	0	0	18	21				
DCLK3	85443	broad.mit.edu	37	3	36779796	36779796	+	Missense_Mutation	SNP	C	C	A	rs372300177		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:36779796C>A	ENST00000416516.2	-	2	845	c.355G>T	c.(355-357)Gca>Tca	p.A119S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	119						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCCCCTTGCGTGCCTCTCT	0.567																																						uc003cgi.2		NA																	0				lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(355-357)GCA>TCA		doublecortin-like kinase 3		C	SER/ALA	0,3760		0,0,1880	137.0	138.0	138.0		355	0.5	0.0	3		138	2,8196		0,2,4097	no	missense	DCLK3	NM_033403.1	99	0,2,5977	AA,AC,CC		0.0244,0.0,0.0167	possibly-damaging	119/649	36779796	2,11956	1880	4099	5979	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779796C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.355G>T	3.37:g.36779796C>A	ENSP00000394484:p.Ala119Ser						p.A119S	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	846	-			119						Missense_Mutation	SNP	ENST00000416516.2	37	c.355G>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	1.866	-0.461348	0.04508	0.0	2.44E-4	ENSG00000163673	ENST00000416516	T	0.66995	-0.24	4.7	0.523	0.17060	.	0.546948	0.13814	N	0.360909	T	0.46619	0.1402	L	0.32530	0.975	0.09310	N	1	B	0.18863	0.031	B	0.15052	0.012	T	0.29150	-1.0021	10	0.39692	T	0.17	.	1.4753	0.02425	0.2176:0.2627:0.3444:0.1753	.	119	Q9C098	DCLK3_HUMAN	S	119	ENSP00000394484:A119S	ENSP00000394484:A119S	A	-	1	0	DCLK3	36754800	0.000000	0.05858	0.001000	0.08648	0.315000	0.28087	0.403000	0.20982	0.512000	0.28257	0.655000	0.94253	GCA		0.567	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		54	109	1	0	6.3e-33	9.46e-33	54	109				
XIRP1	165904	broad.mit.edu	37	3	39228156	39228156	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:39228156C>A	ENST00000340369.3	-	2	3009	c.2781G>T	c.(2779-2781)caG>caT	p.Q927H	XIRP1_ENST00000396251.1_Missense_Mutation_p.Q927H|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	927					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGCCAACAGCTGCACGCTGC	0.647																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(2779-2781)CAG>CAT		xin actin-binding repeat containing 1							31.0	33.0	33.0					3																	39228156		2203	4298	6501	SO:0001583	missense	165904						actin binding	g.chr3:39228156C>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2781G>T	3.37:g.39228156C>A	ENSP00000343140:p.Gln927His					XIRP1_uc003cji.2_Missense_Mutation_p.Q927H|XIRP1_uc003cjj.2_Intron	p.Q927H	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3002	-			927					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.2781G>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100577	0.56183	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.07327	3.2;3.5	5.03	4.13	0.48395	.	0.128986	0.52532	D	0.000077	T	0.22666	0.0547	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.97;0.987	T	0.00143	-1.1996	10	0.72032	D	0.01	.	8.3147	0.32093	0.0:0.8203:0.0:0.1797	.	927;927	Q702N8;Q702N8-2	XIRP1_HUMAN;.	H	927	ENSP00000379550:Q927H;ENSP00000343140:Q927H	ENSP00000343140:Q927H	Q	-	3	2	XIRP1	39203160	0.992000	0.36948	1.000000	0.80357	0.973000	0.67179	0.272000	0.18644	2.529000	0.85273	0.655000	0.94253	CAG		0.647	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		26	40	1	0	1.79e-09	2.32e-09	26	40				
ZNF621	285268	broad.mit.edu	37	3	40570897	40570897	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:40570897G>C	ENST00000339296.5	+	3	564	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	ZNF621_ENST00000403205.2_Missense_Mutation_p.E38Q|ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_Intron|ZNF621_ENST00000310898.1_Missense_Mutation_p.E38Q	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCTGTACGGGGAGGTGATGCT	0.527																																						uc003ckm.2		NA																	0				ovary(1)	1						c.(112-114)GAG>CAG		zinc finger protein 621							177.0	171.0	173.0					3																	40570897		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40570897G>C	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.112G>C	3.37:g.40570897G>C	ENSP00000340841:p.Glu38Gln					ZNF621_uc003ckn.2_Missense_Mutation_p.E38Q|ZNF621_uc003cko.2_Intron|ZNF621_uc011aze.1_Intron	p.E38Q	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	3	328	+			38			KRAB.		Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.112G>C	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.302192	0.60195	.	.	ENSG00000172888	ENST00000403205;ENST00000310898;ENST00000339296;ENST00000453351	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	3.48	1.68	0.24146	Krueppel-associated box (4);	0.203527	0.24479	N	0.038170	T	0.05135	0.0137	M	0.67517	2.055	0.20764	N	0.999856	P	0.39404	0.672	P	0.47251	0.542	T	0.13388	-1.0511	10	0.59425	D	0.04	.	7.4974	0.27498	0.2223:0.0:0.7777:0.0	.	38	Q6ZSS3	ZN621_HUMAN	Q	38	ENSP00000386051:E38Q;ENSP00000312144:E38Q;ENSP00000340841:E38Q;ENSP00000408779:E38Q	ENSP00000312144:E38Q	E	+	1	0	ZNF621	40545901	1.000000	0.71417	0.983000	0.44433	0.888000	0.51559	2.616000	0.46376	0.485000	0.27652	0.563000	0.77884	GAG		0.527	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		44	91	0	0	0	0	44	91				
ARIH2	10425	broad.mit.edu	37	3	49020700	49020700	+	Silent	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:49020700C>G	ENST00000356401.4	+	16	1818	c.1479C>G	c.(1477-1479)acC>acG	p.T493T	RP13-131K19.7_ENST00000609473.1_lincRNA|ARIH2_ENST00000449376.1_Silent_p.T493T|RP13-131K19.1_ENST00000415982.1_RNA|RP13-131K19.2_ENST00000452042.1_RNA|RP13-131K19.1_ENST00000429681.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	493					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCATGACACCTAAGTTGGGA	0.547																																						uc003cvb.2		NA																	0				ovary(1)	1						c.(1477-1479)ACC>ACG		ariadne homolog 2							146.0	152.0	150.0					3																	49020700		2203	4300	6503	SO:0001819	synonymous_variant	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49020700C>G	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.1479C>G	3.37:g.49020700C>G						ARIH2_uc003cvc.2_Silent_p.T493T|ARIH2_uc003cvf.2_Silent_p.T411T|ARIH2_uc010hkl.2_Silent_p.T411T	p.T493T	NM_006321	NP_006312	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	16	1791	+			493					Q9HBZ6|Q9UEM9	Silent	SNP	ENST00000356401.4	37	c.1479C>G	CCDS2780.1																																																																																				0.547	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		49	125	0	0	0	0	49	125				
BSN	8927	broad.mit.edu	37	3	49691751	49691751	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:49691751C>G	ENST00000296452.4	+	5	4876	c.4762C>G	c.(4762-4764)Cag>Gag	p.Q1588E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1588					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TACTGAAACCCAGCCCACCAC	0.627																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(4762-4764)CAG>GAG		bassoon protein							74.0	69.0	70.0					3																	49691751		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691751C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4762C>G	3.37:g.49691751C>G	ENSP00000296452:p.Gln1588Glu						p.Q1588E	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4876	+			1588					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4762C>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746474	0.30955	.	.	ENSG00000164061	ENST00000296452	T	0.19250	2.16	5.33	5.33	0.75918	.	0.443090	0.23524	N	0.047244	T	0.14743	0.0356	L	0.27053	0.805	0.52501	D	0.999953	D	0.53151	0.958	B	0.39465	0.3	T	0.07252	-1.0782	10	0.07644	T	0.81	.	19.0214	0.92917	0.0:1.0:0.0:0.0	.	1588	Q9UPA5	BSN_HUMAN	E	1588	ENSP00000296452:Q1588E	ENSP00000296452:Q1588E	Q	+	1	0	BSN	49666755	1.000000	0.71417	0.926000	0.36857	0.387000	0.30353	5.700000	0.68318	2.503000	0.84419	0.561000	0.74099	CAG		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		18	33	0	0	0	0	18	33				
LSMEM2	132228	broad.mit.edu	37	3	50314079	50314079	+	5'Flank	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:50314079G>A	ENST00000316436.3	+	0	0				SEMA3B_ENST00000418948.1_RNA	NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2							integral component of membrane (GO:0016021)											CGTAACCGGAGGACCCACGCC	0.721																																						uc003cyu.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6						c.(2191-2193)AGG>AAG		semaphorin 3B isoform 1 precursor							11.0	13.0	12.0					3																	50314079		2070	4173	6243	SO:0001631	upstream_gene_variant	7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50314079G>A	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938		3.37:g.50314079G>A	Exception_encountered					SEMA3B_uc003cyt.2_Missense_Mutation_p.R730K|SEMA3B_uc003cyv.2_Missense_Mutation_p.R618K|SEMA3B_uc003cyw.2_Missense_Mutation_p.R454K|SEMA3B_uc010hli.2_Missense_Mutation_p.R623K|SEMA3B_uc003cyx.2_Missense_Mutation_p.R617K|SEMA3B_uc003cyy.2_Missense_Mutation_p.R388K|SEMA3B_uc011bdo.1_Missense_Mutation_p.R388K|C3orf45_uc003cyz.2_5'Flank	p.R731K	NM_004636	NP_004627	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	19	2434	+			731			Arg-rich (basic).			Missense_Mutation	SNP	ENST00000316436.3	37	c.2192G>A	CCDS2814.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243897	0.22796	.	.	ENSG00000012171	ENST00000316347	.	.	.	4.81	3.92	0.45320	.	0.000000	0.64402	D	0.000001	T	0.66839	0.2830	.	.	.	.	.	.	D;D;D;D	0.89917	0.997;1.0;0.997;1.0	D;D;D;D	0.85130	0.99;0.997;0.99;0.997	T	0.74937	-0.3494	7	0.54805	T	0.06	.	8.3071	0.32049	0.108:0.0:0.892:0.0	.	730;480;730;731	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	K	730	.	ENSP00000446262:R730K	R	+	2	0	SEMA3B	50289083	0.572000	0.26668	0.553000	0.28255	0.024000	0.10985	2.615000	0.46368	2.354000	0.79902	0.655000	0.94253	AGG		0.721	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		3	9	0	0	0	0	3	9				
DNAH1	25981	broad.mit.edu	37	3	52428568	52428568	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:52428568C>A	ENST00000420323.2	+	67	10975	c.10714C>A	c.(10714-10716)Cga>Aga	p.R3572R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3637					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGGGCTTGGCGAGACATCCT	0.572																																						uc011bef.1		NA																	0				large_intestine(3)	3						c.(10714-10716)CGA>AGA		dynein, axonemal, heavy chain 1							93.0	102.0	99.0					3																	52428568		2055	4198	6253	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52428568C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10714C>A	3.37:g.52428568C>A						DNAH1_uc003ddv.2_Silent_p.R430R	p.R3572R	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	67	10975	+			3637					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.10714C>A	CCDS46842.1																																																																																				0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		11	31	1	0	3.07e-06	3.68e-06	11	31				
ITIH4	3700	broad.mit.edu	37	3	52857966	52857966	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:52857966C>T	ENST00000266041.4	-	10	1322	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Missense_Mutation_p.R409Q|ITIH4_ENST00000346281.5_Missense_Mutation_p.R409Q|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000434759.3_Missense_Mutation_p.R321Q|ITIH4_ENST00000406595.1_Missense_Mutation_p.R409Q	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	409	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGGCTGTACCGGCCACTTAC	0.582																																						uc003dfz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1225-1227)CGG>CAG		inter-alpha (globulin) inhibitor H4							49.0	48.0	48.0					3																	52857966		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52857966C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1226G>A	3.37:g.52857966C>T	ENSP00000266041:p.Arg409Gln					ITIH4_uc011bel.1_Missense_Mutation_p.R139Q|ITIH4_uc003dfy.2_Missense_Mutation_p.R273Q|ITIH4_uc011bem.1_Missense_Mutation_p.R409Q|ITIH4_uc011ben.1_Missense_Mutation_p.R409Q	p.R409Q	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	10	1262	-			409			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1226G>A	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	4.274	0.049967	0.08243	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	4.53	-5.9	0.02275	von Willebrand factor, type A (3);	1.015100	0.07907	N	0.973611	T	0.54549	0.1865	N	0.10972	0.075	0.20638	N	0.999878	B;B;B;B	0.21452	0.009;0.009;0.005;0.056	B;B;B;B	0.20184	0.008;0.013;0.013;0.028	T	0.47674	-0.9099	10	0.11485	T	0.65	-4.8551	12.9749	0.58532	0.0:0.4189:0.0:0.5811	.	409;409;409;409	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	Q	409;409;409;409;397;321	ENSP00000266041:R409Q;ENSP00000340520:R409Q;ENSP00000417824:R409Q;ENSP00000384425:R409Q;ENSP00000440036:R321Q	ENSP00000266041:R409Q	R	-	2	0	ITIH4	52833006	0.017000	0.18338	0.292000	0.24919	0.121000	0.20230	0.260000	0.18424	-0.973000	0.03555	-0.448000	0.05591	CGG		0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		17	23	0	0	0	0	17	23				
CNTN3	5067	broad.mit.edu	37	3	74347306	74347306	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:74347306C>G	ENST00000263665.6	-	17	2230	c.2203G>C	c.(2203-2205)Ggg>Cgg	p.G735R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	735	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACAACATACCCAAAACCTTCA	0.458																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(2203-2205)GGG>CGG		contactin 3 precursor							150.0	147.0	148.0					3																	74347306		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74347306C>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2203G>C	3.37:g.74347306C>G	ENSP00000263665:p.Gly735Arg						p.G735R	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	17	2283	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	735			Fibronectin type-III 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2203G>C	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965617	0.92855	.	.	ENSG00000113805	ENST00000263665	T	0.60424	0.19	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.86502	2.82	0.80722	D	1	D	0.61080	0.989	D	0.70716	0.97	T	0.77710	-0.2486	10	0.32370	T	0.25	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	735	Q9P232	CNTN3_HUMAN	R	735	ENSP00000263665:G735R	ENSP00000263665:G735R	G	-	1	0	CNTN3	74429996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.207000	0.77899	2.733000	0.93635	0.655000	0.94253	GGG		0.458	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		8	24	0	0	0	0	8	24				
VGLL3	389136	broad.mit.edu	37	3	87018113	87018113	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:87018113C>A	ENST00000398399.2	-	3	927	c.564G>T	c.(562-564)ccG>ccT	p.P188P	VGLL3_ENST00000383698.3_Silent_p.P188P	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GGTTGTGTCCCGGCCAAGGAC	0.597																																						uc003dqn.2		NA																	0					0						c.(562-564)CCG>CCT		colon carcinoma related protein							62.0	66.0	65.0					3																	87018113		2043	4189	6232	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018113C>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.564G>T	3.37:g.87018113C>A							p.P188P	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	928	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	188						Silent	SNP	ENST00000398399.2	37	c.564G>T	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	7.310	0.614828	0.14129	.	.	ENSG00000206538	ENST00000494229	.	.	.	5.81	-3.93	0.04143	.	.	.	.	.	T	0.51415	0.1673	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51593	-0.8686	4	.	.	.	-1.0266	8.5497	0.33444	0.1036:0.4368:0.0:0.4596	.	.	.	.	W	122	.	.	G	-	1	0	VGLL3	87100803	0.085000	0.21516	0.992000	0.48379	0.809000	0.45718	-0.746000	0.04829	-0.363000	0.08101	-0.416000	0.06073	GGG		0.597	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		37	50	1	0	8.74e-17	1.25e-16	37	50				
OR5K4	403278	broad.mit.edu	37	3	98072954	98072954	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:98072954T>A	ENST00000354924.2	+	1	257	c.257T>A	c.(256-258)tTt>tAt	p.F86Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GAGAATTTCTTTTCTGAGGAT	0.438																																						uc011bgv.1		NA																	0				central_nervous_system(1)	1						c.(256-258)TTT>TAT		olfactory receptor, family 5, subfamily K,							238.0	248.0	245.0					3																	98072954		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072954T>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.257T>A	3.37:g.98072954T>A	ENSP00000347003:p.Phe86Tyr						p.F86Y	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	257	+			86			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.257T>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.025009	0.54683	.	.	ENSG00000196098	ENST00000354924	T	0.02015	4.5	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33515	U	0.004827	T	0.09247	0.0228	L	0.61218	1.895	0.32505	N	0.538289	D	0.76494	0.999	D	0.65773	0.938	T	0.01256	-1.1404	10	0.87932	D	0	-56.6284	12.5441	0.56188	0.0:0.0:0.0:1.0	.	86	A6NMS3	OR5K4_HUMAN	Y	86	ENSP00000347003:F86Y	ENSP00000347003:F86Y	F	+	2	0	OR5K4	99555644	0.098000	0.21812	1.000000	0.80357	0.202000	0.24057	2.899000	0.48679	2.115000	0.64714	0.491000	0.48974	TTT		0.438	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			115	268	0	0	0	0	115	268				
KIAA1524	57650	broad.mit.edu	37	3	108270064	108270064	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:108270064T>C	ENST00000295746.8	-	21	2726	c.2650A>G	c.(2650-2652)Atg>Gtg	p.M884V	KIAA1524_ENST00000491772.1_Missense_Mutation_p.M725V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	884					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTGCTATCATGTGGGAGTGT	0.378																																						uc003dxb.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2650-2652)ATG>GTG		p90 autoantigen							112.0	102.0	105.0					3																	108270064		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108270064T>C	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2650A>G	3.37:g.108270064T>C	ENSP00000295746:p.Met884Val						p.M884V	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			21	2919	-			884					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2650A>G	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664252	0.67700	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.10005	2.92;3.07	5.8	5.8	0.92144	.	0.036917	0.85682	D	0.000000	T	0.17492	0.0420	M	0.65975	2.015	0.51482	D	0.999929	P	0.39624	0.681	B	0.42522	0.39	T	0.00670	-1.1617	10	0.56958	D	0.05	-12.2881	11.9787	0.53107	0.0:0.0692:0.0:0.9308	.	884	Q8TCG1	CIP2A_HUMAN	V	725;884	ENSP00000419487:M725V;ENSP00000295746:M884V	ENSP00000295746:M884V	M	-	1	0	KIAA1524	109752754	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.604000	0.67626	2.209000	0.71365	0.482000	0.46254	ATG		0.378	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		10	45	0	0	0	0	10	45				
SEC61A1	29927	broad.mit.edu	37	3	127783841	127783841	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:127783841C>T	ENST00000243253.3	+	8	922	c.738C>T	c.(736-738)atC>atT	p.I246I	RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000464451.1_Silent_p.I252I|SEC61A1_ENST00000424880.2_Silent_p.I126I|SEC61A1_ENST00000483956.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	246					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGAATCTCATCGCCACCATCT	0.512																																						uc003ekb.2		NA																	0				ovary(1)	1						c.(736-738)ATC>ATT		Sec61 alpha 1 subunit							165.0	159.0	161.0					3																	127783841		2203	4300	6503	SO:0001819	synonymous_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127783841C>T	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.738C>T	3.37:g.127783841C>T						RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Silent_p.I193I|SEC61A1_uc003ekd.2_Silent_p.I126I|SEC61A1_uc003ekg.2_Intron	p.I246I	NM_013336	NP_037468	P61619	S61A1_HUMAN			8	922	+			246			Helical; (Potential).		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	c.738C>T	CCDS3046.1																																																																																				0.512	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		31	115	0	0	0	0	31	115				
PLXND1	23129	broad.mit.edu	37	3	129304823	129304823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:129304823G>A	ENST00000324093.4	-	5	2001	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	PLXND1_ENST00000393239.1_Missense_Mutation_p.S608F	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	608					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATCGATCTCGGAAGGCAGGAC	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0		p.S608S(1)		large_intestine(1)	1						c.(1822-1824)TCC>TTC		plexin D1 precursor							113.0	121.0	118.0					3																	129304823		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129304823G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1823C>T	3.37:g.129304823G>A	ENSP00000317128:p.Ser608Phe						p.S608F	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			5	1923	-			608			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1823C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460153	0.43736	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.37235	1.26;1.21;2.74	4.98	4.98	0.66077	.	0.819847	0.11287	N	0.579738	T	0.35278	0.0926	L	0.47716	1.5	0.09310	N	1	B	0.31859	0.343	B	0.27380	0.079	T	0.30268	-0.9984	10	0.62326	D	0.03	.	15.4084	0.74900	0.0:0.0:1.0:0.0	.	608	Q9Y4D7	PLXD1_HUMAN	F	608;608;160	ENSP00000317128:S608F;ENSP00000376931:S608F;ENSP00000426241:S160F	ENSP00000317128:S608F	S	-	2	0	PLXND1	130787513	0.820000	0.29190	0.022000	0.16811	0.448000	0.32197	4.919000	0.63383	2.317000	0.78254	0.561000	0.74099	TCC		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		10	213	0	0	0	0	10	213				
TMCC1	23023	broad.mit.edu	37	3	129389575	129389575	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:129389575C>A	ENST00000393238.3	-	4	1449	c.1109G>T	c.(1108-1110)aGa>aTa	p.R370I	TMCC1_ENST00000329333.5_Missense_Mutation_p.R191I|TMCC1_ENST00000426664.2_Missense_Mutation_p.R256I|TMCC1_ENST00000432054.2_Missense_Mutation_p.R46I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	370						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGCAATCTCTCTGGGCTTTGA	0.527																																						uc003emz.3		NA																	0				skin(1)	1						c.(1108-1110)AGA>ATA		transmembrane and coiled-coil domain family 1							71.0	68.0	69.0					3																	129389575		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389575C>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1109G>T	3.37:g.129389575C>A	ENSP00000376930:p.Arg370Ile					TMCC1_uc003emy.3_Missense_Mutation_p.R46I|TMCC1_uc011blc.1_Missense_Mutation_p.R191I|TMCC1_uc010htg.2_Missense_Mutation_p.R256I	p.R370I	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			5	1610	-			370					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1109G>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658889	0.88154	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.21	5.21	0.72293	.	0.048689	0.85682	D	0.000000	T	0.73814	0.3635	M	0.87180	2.865	0.80722	D	1	D;D	0.61080	0.989;0.96	D;P	0.71656	0.974;0.827	T	0.78942	-0.2005	10	0.87932	D	0	-24.3516	19.1112	0.93317	0.0:1.0:0.0:0.0	.	191;370	B4DE04;O94876	.;TMCC1_HUMAN	I	46;370;256;191	ENSP00000404711:R46I;ENSP00000376930:R370I;ENSP00000389892:R256I;ENSP00000327349:R191I	ENSP00000327349:R191I	R	-	2	0	TMCC1	130872265	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.629000	0.83207	2.581000	0.87130	0.591000	0.81541	AGA		0.527	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		17	51	1	0	4.75e-09	6.13e-09	17	51				
EPHB1	2047	broad.mit.edu	37	3	134911580	134911580	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:134911580G>T	ENST00000398015.3	+	11	2415	c.2045G>T	c.(2044-2046)cGc>cTc	p.R682L	EPHB1_ENST00000493838.1_Missense_Mutation_p.R243L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AACATCATTCGCCTGGAGGGT	0.537																																						uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2044-2046)CGC>CTC		ephrin receptor EphB1 precursor							102.0	102.0	102.0					3																	134911580		2200	4299	6499	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134911580G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2045G>T	3.37:g.134911580G>T	ENSP00000381097:p.Arg682Leu					EPHB1_uc003equ.2_Missense_Mutation_p.R243L	p.R682L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			11	2265	+			682			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2045G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642908	0.96704	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.64803	-0.12;-0.12	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000003	T	0.76162	0.3949	L	0.51853	1.615	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.77835	-0.2440	10	0.87932	D	0	.	19.2763	0.94032	0.0:0.0:1.0:0.0	.	682	P54762	EPHB1_HUMAN	L	682;243	ENSP00000381097:R682L;ENSP00000419574:R243L	ENSP00000381097:R682L	R	+	2	0	EPHB1	136394270	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.946000	0.87746	2.567000	0.86603	0.561000	0.74099	CGC		0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		21	38	1	0	7.92e-27	1.18e-26	21	38				
DBR1	51163	broad.mit.edu	37	3	137881194	137881194	+	Missense_Mutation	SNP	T	T	A	rs369882903		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:137881194T>A	ENST00000260803.4	-	8	1325	c.1172A>T	c.(1171-1173)cAt>cTt	p.H391L	DBR1_ENST00000505015.2_Missense_Mutation_p.H157L	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	391					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACCACACACATGATGTTCTTC	0.408																																						uc003erv.2		NA																	0					0						c.(1171-1173)CAT>CTT		debranching enzyme homolog 1							131.0	116.0	121.0					3																	137881194		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137881194T>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1172A>T	3.37:g.137881194T>A	ENSP00000260803:p.His391Leu					DBR1_uc003eru.2_Missense_Mutation_p.H340L|DBR1_uc003ert.2_Missense_Mutation_p.H159L	p.H391L	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1308	-			391					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.1172A>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	T	0.561	-0.845170	0.02671	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.41758	0.99	5.99	2.09	0.27110	.	0.796479	0.12331	N	0.478373	T	0.28699	0.0711	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.20605	-1.0270	10	0.28530	T	0.3	-17.288	5.3433	0.15996	0.0:0.1285:0.4398:0.4317	.	391;159	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	L	391;157	ENSP00000260803:H391L	ENSP00000260803:H391L	H	-	2	0	DBR1	139363884	0.002000	0.14202	0.002000	0.10522	0.074000	0.17049	0.433000	0.21477	0.390000	0.25115	0.533000	0.62120	CAT		0.408	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			15	36	0	0	0	0	15	36				
TRPC1	7220	broad.mit.edu	37	3	142523472	142523472	+	Splice_Site	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:142523472G>C	ENST00000476941.1	+	12	2640	c.2154G>C	c.(2152-2154)aaG>aaC	p.K718N	TRPC1_ENST00000273482.6_Splice_Site_p.K684N	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	718					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACAGTTTAAAGGTAAGAAATT	0.373																																						uc003evc.2		NA																	0				ovary(2)	2						c.(2152-2154)AAG>AAC		transient receptor potential cation channel,							69.0	67.0	68.0					3																	142523472		2203	4300	6503	SO:0001630	splice_region_variant	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142523472G>C	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2154+1G>C	3.37:g.142523472G>C						TRPC1_uc003evb.2_Missense_Mutation_p.K684N	p.K718N	NM_003304	NP_003295	P48995	TRPC1_HUMAN			12	2290	+			718					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.2154G>C	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114410	0.56505	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.81330	-1.48;-1.48	4.68	4.68	0.58851	.	0.316894	0.37955	N	0.001871	T	0.72285	0.3441	L	0.38175	1.15	0.80722	D	1	P;B	0.34522	0.455;0.01	B;B	0.32624	0.149;0.005	T	0.69778	-0.5053	10	0.17832	T	0.49	-14.4551	17.9581	0.89075	0.0:0.0:1.0:0.0	.	718;684	P48995;P48995-2	TRPC1_HUMAN;.	N	718;684	ENSP00000419313:K718N;ENSP00000273482:K684N	ENSP00000273482:K684N	K	+	3	2	TRPC1	144006162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.698000	0.61789	2.304000	0.77564	0.650000	0.86243	AAG		0.373	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304	Missense_Mutation	12	35	0	0	0	0	12	35				
ZIC1	7545	broad.mit.edu	37	3	147131245	147131245	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:147131245G>T	ENST00000282928.4	+	3	1980	c.1251G>T	c.(1249-1251)ccG>ccT	p.P417P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	417	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAGACAACCCGACCACAAGCT	0.592																																						uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1249-1251)CCG>CCT		zinc finger protein of the cerebellum 1							149.0	127.0	135.0					3																	147131245		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131245G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1251G>T	3.37:g.147131245G>T							p.P417P	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			3	1970	+			417			Ser-rich.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.1251G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	9.449	1.089960	0.20390	.	.	ENSG00000152977	ENST00000488404	.	.	.	3.37	2.5	0.30297	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53816	-0.8385	4	.	.	.	.	10.6068	0.45398	0.0975:0.0:0.9025:0.0	.	.	.	.	L	106	.	.	R	+	2	0	ZIC1	148613935	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.403000	0.44530	0.413000	0.25759	-0.369000	0.07265	CGA		0.592	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		17	98	1	0	2.58e-16	3.68e-16	17	98				
CLRN1	7401	broad.mit.edu	37	3	150659511	150659511	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:150659511G>T	ENST00000327047.1	-	2	581	c.291C>A	c.(289-291)atC>atA	p.I97I	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Silent_p.I97I|RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.S7Y|CLRN1_ENST00000295911.2_Silent_p.I21I	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	97					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATTGACGTGGATGCTCACTG	0.393																																						uc003eyk.1		NA																	0					0						c.(289-291)ATC>ATA		clarin 1 isoform a							119.0	107.0	111.0					3																	150659511		2203	4300	6503	SO:0001819	synonymous_variant	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150659511G>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.291C>A	3.37:g.150659511G>T						CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Silent_p.I21I|CLRN1_uc010hvj.1_RNA	p.I97I	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	582	-			97					D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	37	c.291C>A	CCDS3153.1																																																																																				0.393	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			10	22	1	0	0.000673444	0.000753027	10	22				
SI	6476	broad.mit.edu	37	3	164725726	164725726	+	Missense_Mutation	SNP	C	C	G	rs145734588	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:164725726C>G	ENST00000264382.3	-	36	4302	c.4240G>C	c.(4240-4242)Gaa>Caa	p.E1414Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1414	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.E1414K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAATTTAGTTCGTCATTTCTG	0.264										HNSCC(35;0.089)																												uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4240-4242)GAA>CAA		sucrase-isomaltase	Acarbose(DB00284)						148.0	154.0	152.0					3																	164725726		2202	4293	6495	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164725726C>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4240G>C	3.37:g.164725726C>G	ENSP00000264382:p.Glu1414Gln	HNSCC(35;0.089)					p.E1414Q	NM_001041	NP_001032	P14410	SUIS_HUMAN			36	4302	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1414			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4240G>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	1.200	-0.632803	0.03584	.	.	ENSG00000090402	ENST00000264382	D	0.89196	-2.48	4.92	-9.84	0.00479	Glycoside hydrolase, superfamily (1);	2.488890	0.01481	N	0.016680	T	0.75882	0.3910	L	0.31065	0.9	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.65429	-0.6170	10	0.15952	T	0.53	.	1.8534	0.03174	0.142:0.2719:0.2608:0.3253	.	1414	P14410	SUIS_HUMAN	Q	1414	ENSP00000264382:E1414Q	ENSP00000264382:E1414Q	E	-	1	0	SI	166208420	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.477000	0.00228	-2.415000	0.00568	-1.288000	0.01363	GAA		0.264	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		23	48	0	0	0	0	23	48				
BCHE	590	broad.mit.edu	37	3	165548790	165548790	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:165548790C>A	ENST00000264381.3	-	2	198	c.32G>T	c.(31-33)aGa>aTa	p.R11I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	11					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAAGAGAAATCTGATGCATAT	0.333																																						uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(31-33)AGA>ATA		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						40.0	37.0	38.0					3																	165548790		2203	4299	6502	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548790C>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.32G>T	3.37:g.165548790C>A	ENSP00000264381:p.Arg11Ile					BCHE_uc003fen.3_Intron	p.R11I	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	192	-			11					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.32G>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	3.451	-0.111953	0.06881	.	.	ENSG00000114200	ENST00000264381	T	0.67171	-0.25	5.47	-9.52	0.00578	Carboxylesterase, type B (1);	1.193100	0.05952	N	0.639047	T	0.34919	0.0914	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.11665	-1.0578	10	0.19147	T	0.46	.	5.2901	0.15721	0.135:0.1979:0.0779:0.5892	.	11	P06276	CHLE_HUMAN	I	11	ENSP00000264381:R11I	ENSP00000264381:R11I	R	-	2	0	BCHE	167031484	0.000000	0.05858	0.000000	0.03702	0.214000	0.24535	-1.257000	0.02866	-1.503000	0.01812	0.563000	0.77884	AGA		0.333	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			10	22	1	0	0.000673444	0.000753027	10	22				
SKIL	6498	broad.mit.edu	37	3	170078601	170078601	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:170078601G>T	ENST00000458537.3	+	1	1191	c.482G>T	c.(481-483)gGa>gTa	p.G161V	SKIL_ENST00000259119.4_Missense_Mutation_p.G161V|SKIL_ENST00000426052.2_Missense_Mutation_p.G141V|SKIL_ENST00000413427.2_Missense_Mutation_p.G161V	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	161					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAAGTTGGAGGAGAAAAGAGA	0.418																																						uc003fgu.2		NA																	0				ovary(2)|skin(1)	3						c.(481-483)GGA>GTA		SKI-like isoform 1							109.0	119.0	115.0					3																	170078601		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078601G>T	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.482G>T	3.37:g.170078601G>T	ENSP00000415243:p.Gly161Val					SKIL_uc011bps.1_Missense_Mutation_p.G141V|SKIL_uc003fgv.2_Missense_Mutation_p.G161V|SKIL_uc003fgw.2_Missense_Mutation_p.G161V	p.G161V	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	1194	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		161					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.482G>T	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585018	0.66105	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.42	3.57	0.40892	DNA binding domain, putative (1);Transforming protein Ski (2);	0.100179	0.64402	D	0.000002	D	0.96778	0.8948	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96702	0.9519	10	0.87932	D	0	-16.829	10.4849	0.44715	0.07:0.0:0.7967:0.1333	.	161;161	P12757-3;P12757	.;SKIL_HUMAN	V	161;141;161;161	ENSP00000259119:G161V;ENSP00000406520:G141V;ENSP00000400193:G161V;ENSP00000415243:G161V	ENSP00000259119:G161V	G	+	2	0	SKIL	171561295	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.630000	0.83225	1.314000	0.45095	-0.244000	0.11960	GGA		0.418	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		32	98	1	0	5.6e-13	7.71e-13	32	98				
TNIK	23043	broad.mit.edu	37	3	170945955	170945955	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr3:170945955C>A	ENST00000436636.2	-	3	523	c.179G>T	c.(178-180)gGg>gTg	p.G60V	TNIK_ENST00000357327.5_Splice_Site_p.G60V|TNIK_ENST00000284483.8_Splice_Site_p.G60V|TNIK_ENST00000470834.1_Splice_Site_p.G60V|TNIK_ENST00000488470.1_Splice_Site_p.G60V|TNIK_ENST00000369326.5_Splice_Site_p.G60V|TNIK_ENST00000341852.6_Splice_Site_p.G60V|TNIK_ENST00000538048.1_Splice_Site_p.G60V|TNIK_ENST00000460047.1_Splice_Site_p.G60V|TNIK_ENST00000475336.1_Splice_Site_p.G60V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GACACTTACCCCTGTGACATC	0.398																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(178-180)GGG>GTG		TRAF2 and NCK interacting kinase isoform 1							109.0	110.0	109.0					3																	170945955		1938	4137	6075	SO:0001630	splice_region_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170945955C>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.180+1G>T	3.37:g.170945955C>A						TNIK_uc003fhi.2_Missense_Mutation_p.G60V|TNIK_uc003fhj.2_Missense_Mutation_p.G60V|TNIK_uc003fhk.2_Missense_Mutation_p.G60V|TNIK_uc003fhl.2_Missense_Mutation_p.G60V|TNIK_uc003fhm.2_Missense_Mutation_p.G60V|TNIK_uc003fhn.2_Missense_Mutation_p.G60V|TNIK_uc003fho.2_Missense_Mutation_p.G60V	p.G60V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		3	524	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		60			Protein kinase.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.179G>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023970	0.75390	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.222640	0.46758	D	0.000270	T	0.72463	0.3463	L	0.56396	1.775	0.80722	D	1	P;D;P;D;D;D;P;D	0.61080	0.454;0.986;0.892;0.984;0.986;0.986;0.892;0.989	B;P;P;P;P;P;P;P	0.55713	0.133;0.571;0.782;0.731;0.571;0.571;0.782;0.697	T	0.74000	-0.3805	10	0.72032	D	0.01	.	17.8186	0.88643	0.0:1.0:0.0:0.0	.	60;60;60;60;60;60;60;60	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	V	60	ENSP00000399511:G60V;ENSP00000358332:G60V;ENSP00000443278:G60V;ENSP00000345352:G60V;ENSP00000284483:G60V;ENSP00000418156:G60V;ENSP00000349880:G60V;ENSP00000418916:G60V;ENSP00000418378:G60V;ENSP00000419990:G60V	ENSP00000284483:G60V	G	-	2	0	TNIK	172428649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.547000	0.53663	2.818000	0.97014	0.655000	0.94253	GGG		0.398	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	Missense_Mutation	15	51	1	0	4.75e-09	6.13e-09	15	51				
FGFRL1	53834	broad.mit.edu	37	4	1018993	1018993	+	Missense_Mutation	SNP	A	A	T	rs567468058	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:1018993A>T	ENST00000398484.2	+	8	1953	c.1373A>T	c.(1372-1374)cAc>cTc	p.H458L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.H458L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.H458L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H458L|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	458					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCCCCAGCACTTACTGGGC	0.622																																						uc003gce.2		NA																	0					0						c.(1372-1374)CAC>CTC		fibroblast growth factor receptor-like 1							14.0	16.0	15.0					4																	1018993		2190	4297	6487	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018993A>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1373A>T	4.37:g.1018993A>T	ENSP00000381498:p.His458Leu					FGFRL1_uc003gcf.2_Missense_Mutation_p.H458L|FGFRL1_uc003gcg.2_Missense_Mutation_p.H458L|FGFRL1_uc010ibo.2_Missense_Mutation_p.H458L	p.H458L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1534	+			458			Cytoplasmic (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1373A>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217451	0.58560	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.16	2.93	0.34026	.	0.145928	0.45606	N	0.000353	T	0.56187	0.1968	N	0.17312	0.475	0.50171	D	0.999856	P	0.47302	0.893	P	0.45474	0.482	T	0.55477	-0.8135	10	0.54805	T	0.06	-23.5897	8.8709	0.35316	0.8184:0.0:0.0:0.1816	.	458	Q8N441	FGRL1_HUMAN	L	458;428;458;458;458	ENSP00000381498:H458L;ENSP00000425025:H458L;ENSP00000423091:H458L;ENSP00000264748:H458L	ENSP00000264748:H458L	H	+	2	0	FGFRL1	1008993	0.998000	0.40836	0.996000	0.52242	0.586000	0.36452	3.464000	0.53057	0.456000	0.26937	-0.438000	0.05819	CAC		0.622	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		6	19	0	0	0	0	6	19				
LETM1	3954	broad.mit.edu	37	4	1827372	1827372	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:1827372C>A	ENST00000302787.2	-	7	1415	c.1119G>T	c.(1117-1119)aaG>aaT	p.K373N		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	373	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTGCAGCTCCTTGACATTCA	0.577																																						uc003gdv.2		NA																	0				central_nervous_system(1)	1						c.(1117-1119)AAG>AAT		leucine zipper-EF-hand containing transmembrane							43.0	40.0	41.0					4																	1827372		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1827372C>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1119G>T	4.37:g.1827372C>A	ENSP00000305653:p.Lys373Asn						p.K373N	NM_012318	NP_036450	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		7	1416	-			373			Mitochondrial matrix (Potential).|LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.1119G>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	6.637	0.486053	0.12641	.	.	ENSG00000168924	ENST00000302787	T	0.44083	0.93	5.06	3.31	0.37934	LETM1-like (1);	0.049419	0.85682	D	0.000000	T	0.14184	0.0343	N	0.01352	-0.895	0.44927	D	0.997949	B	0.18166	0.026	B	0.22152	0.038	T	0.04915	-1.0918	10	0.17369	T	0.5	-44.5305	6.8647	0.24086	0.0:0.5913:0.0:0.4087	.	373	O95202	LETM1_HUMAN	N	373	ENSP00000305653:K373N	ENSP00000305653:K373N	K	-	3	2	LETM1	1797170	0.995000	0.38212	1.000000	0.80357	0.431000	0.31685	0.292000	0.19011	0.514000	0.28300	0.561000	0.74099	AAG		0.577	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			12	37	1	0	3.07e-06	3.68e-06	12	37				
JAKMIP1	152789	broad.mit.edu	37	4	6107640	6107640	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:6107640G>T	ENST00000282924.5	-	3	669	c.184C>A	c.(184-186)Cag>Aag	p.Q62K	JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.Q62K|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.Q62K	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	62	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCCGTCGCTGCTCCTGCTCG	0.672																																						uc003giu.3		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(184-186)CAG>AAG		janus kinase and microtubule interacting protein							31.0	30.0	30.0					4																	6107640		2172	4267	6439	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107640G>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.184C>A	4.37:g.6107640G>T	ENSP00000282924:p.Gln62Lys					JAKMIP1_uc010idb.1_Missense_Mutation_p.Q62K|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.Q62K|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.Q62K|JAKMIP1_uc010ide.2_Missense_Mutation_p.Q62K	p.Q62K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			3	460	-			62			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.184C>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735619	0.89482	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831	T;T;T	0.07567	3.18;3.18;3.18	3.93	3.93	0.45458	.	0.000000	0.64402	D	0.000016	T	0.29223	0.0727	M	0.79926	2.475	0.80722	D	1	P;P;P	0.52577	0.949;0.954;0.949	P;D;P	0.65140	0.731;0.932;0.731	T	0.10154	-1.0642	10	0.72032	D	0.01	.	15.4753	0.75474	0.0:0.0:1.0:0.0	.	62;62;62	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	K	62	ENSP00000386711:Q62K;ENSP00000282924:Q62K;ENSP00000386925:Q62K	ENSP00000282924:Q62K	Q	-	1	0	JAKMIP1	6158541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.034000	0.93747	2.166000	0.68216	0.484000	0.47621	CAG		0.672	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		20	35	1	0	5.26e-13	7.25e-13	20	35				
SLIT2	9353	broad.mit.edu	37	4	20493400	20493400	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:20493400G>C	ENST00000504154.1	+	9	1044	c.792G>C	c.(790-792)atG>atC	p.M264I	SLIT2_ENST00000273739.5_Missense_Mutation_p.M268I|SLIT2_ENST00000503823.1_Missense_Mutation_p.M264I|SLIT2_ENST00000503837.1_Missense_Mutation_p.M268I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	264	LRRNT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGTCATTTATGGCTCCTTCTT	0.403																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(790-792)ATG>ATC		slit homolog 2 precursor							134.0	134.0	134.0					4																	20493400		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20493400G>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.792G>C	4.37:g.20493400G>C	ENSP00000422591:p.Met264Ile					SLIT2_uc003gps.1_Missense_Mutation_p.M264I	p.M264I	NM_004787	NP_004778	O94813	SLIT2_HUMAN			9	996	+			264			LRRNT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.792G>C	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764306	0.31228	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.79845	-1.3;-1.31;-1.22;-1.28	5.63	4.78	0.61160	.	0.221712	0.56097	D	0.000032	T	0.68403	0.2997	N	0.14661	0.345	0.40918	D	0.984285	B;B	0.13145	0.007;0.005	B;B	0.06405	0.002;0.002	T	0.63532	-0.6616	10	0.37606	T	0.19	.	16.9141	0.86147	0.0:0.1281:0.8719:0.0	.	264;264	O94813-3;O94813	.;SLIT2_HUMAN	I	264;264;268;268;268	ENSP00000427548:M264I;ENSP00000422591:M264I;ENSP00000273739:M268I;ENSP00000422261:M268I	ENSP00000273739:M268I	M	+	3	0	SLIT2	20102498	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.517000	0.53443	1.509000	0.48786	-0.176000	0.13171	ATG		0.403	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			29	108	0	0	0	0	29	108				
TBC1D1	23216	broad.mit.edu	37	4	38047458	38047458	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:38047458G>A	ENST00000261439.4	+	10	1918	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L	TBC1D1_ENST00000508802.1_Silent_p.L521L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	521					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCAGAGGCCTGCAGGAACACT	0.443																																						uc003gtb.2		NA																	0				ovary(1)	1						c.(1561-1563)CTG>CTA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							127.0	128.0	128.0					4																	38047458		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38047458G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1563G>A	4.37:g.38047458G>A						TBC1D1_uc011byd.1_Silent_p.L521L|TBC1D1_uc010ifd.2_Silent_p.L268L|TBC1D1_uc011byf.1_Silent_p.L392L	p.L521L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			10	1906	+			521					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.1563G>A	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.534|1.534	-0.543572|-0.543572	0.04053|0.04053	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000443855	.|.	.|.	.|.	5.81|5.81	-10.5|-10.5	0.00291|0.00291	.|.	.|.	.|.	.|.	.|.	T|T	0.31702|0.31702	0.0805|0.0805	.|.	.|.	.|.	0.41941|0.41941	D|D	0.990612|0.990612	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38308|0.38308	-0.9667|-0.9667	4|4	.|.	.|.	.|.	-10.2792|-10.2792	1.8822|1.8822	0.03231|0.03231	0.1716:0.1031:0.3893:0.336|0.1716:0.1031:0.3893:0.336	.|.	.|.	.|.	.|.	T|Y	169|13	.|.	.|.	A|C	+|+	1|2	0|0	TBC1D1|TBC1D1	37723853|37723853	0.000000|0.000000	0.05858|0.05858	0.265000|0.265000	0.24526|0.24526	0.193000|0.193000	0.23685|0.23685	-2.174000|-2.174000	0.01264|0.01264	-2.054000|-2.054000	0.00900|0.00900	-0.293000|-0.293000	0.09583|0.09583	GCA|TGC		0.443	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		26	87	0	0	0	0	26	87				
KLB	152831	broad.mit.edu	37	4	39436011	39436011	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:39436011G>T	ENST00000257408.4	+	2	1104	c.1007G>T	c.(1006-1008)gGg>gTg	p.G336V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	336	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CCTATCCATGGGGATGGCGAC	0.468																																						uc003gua.2		NA																	0				skin(1)	1						c.(1006-1008)GGG>GTG		klotho beta							125.0	117.0	120.0					4																	39436011		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436011G>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1007G>T	4.37:g.39436011G>T	ENSP00000257408:p.Gly336Val					KLB_uc011byj.1_Missense_Mutation_p.G336V	p.G336V	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			2	1104	+			336			Extracellular (Potential).|Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1007G>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764903	0.31228	.	.	ENSG00000134962	ENST00000257408	T	0.30714	1.52	6.17	6.17	0.99709	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.212786	0.48767	D	0.000164	T	0.24431	0.0592	L	0.28608	0.87	0.80722	D	1	P;P	0.40660	0.726;0.726	B;B	0.40636	0.335;0.335	T	0.02263	-1.1186	10	0.15499	T	0.54	-13.1224	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	336;336	B7ZL50;Q86Z14	.;KLOTB_HUMAN	V	336	ENSP00000257408:G336V	ENSP00000257408:G336V	G	+	2	0	KLB	39112406	1.000000	0.71417	0.502000	0.27614	0.780000	0.44128	5.423000	0.66458	2.941000	0.99782	0.655000	0.94253	GGG		0.468	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		23	69	1	0	1.5e-11	2.02e-11	23	69				
COX7B2	170712	broad.mit.edu	37	4	46737052	46737052	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:46737052G>A	ENST00000396533.1	-	4	408	c.158C>T	c.(157-159)aCa>aTa	p.T53I	COX7B2_ENST00000355591.3_Missense_Mutation_p.T53I|COX7B2_ENST00000543208.1_Missense_Mutation_p.T52I|COX7B2_ENST00000302930.5_Missense_Mutation_p.T53I			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	53						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						AAACACCCATGTAGCAACACA	0.433																																						uc003gxf.2		NA																	0					0						c.(157-159)ACA>ATA		cytochrome c oxidase subunit VIIb2 precursor							156.0	136.0	143.0					4																	46737052		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737052G>A	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.158C>T	4.37:g.46737052G>A	ENSP00000379784:p.Thr53Ile					COX7B2_uc010ige.2_RNA	p.T53I	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN			3	338	-			53			Helical; (By similarity).		Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.158C>T	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.990759	0.00439	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.37	1.7	0.24286	Cytochrome C oxidase, subunit VIIB, domain (2);	1.023570	0.07756	N	0.949336	T	0.24314	0.0589	.	.	.	0.09310	N	1	B	0.19935	0.04	B	0.22152	0.038	T	0.30416	-0.9979	9	0.17369	T	0.5	-5.5346	4.8868	0.13706	0.1933:0.1736:0.6331:0.0	.	53	Q8TF08	CX7B2_HUMAN	I	53;53;53;52	ENSP00000347799:T53I;ENSP00000379784:T53I;ENSP00000305964:T53I;ENSP00000437439:T52I	ENSP00000305964:T53I	T	-	2	0	COX7B2	46431809	0.290000	0.24343	0.046000	0.18839	0.020000	0.10135	0.598000	0.24074	0.358000	0.24211	0.585000	0.79938	ACA		0.433	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902		22	61	0	0	0	0	22	61				
GABRA4	2557	broad.mit.edu	37	4	46981101	46981101	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:46981101C>A	ENST00000264318.3	-	3	1202	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	74					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCAGTTTTCACTTCTGTAACA	0.343																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(220-222)GTG>TTG		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						86.0	78.0	80.0					4																	46981101		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46981101C>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.220G>T	4.37:g.46981101C>A	ENSP00000264318:p.Val74Leu						p.V74L	NM_000809	NP_000800	P48169	GBRA4_HUMAN			3	359	-			74			Extracellular (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.220G>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681305	0.47991	.	.	ENSG00000109158	ENST00000264318	D	0.86956	-2.19	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.92026	3.265	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.95902	0.8916	10	0.87932	D	0	.	18.0296	0.89279	0.0:1.0:0.0:0.0	.	74	P48169	GBRA4_HUMAN	L	74	ENSP00000264318:V74L	ENSP00000264318:V74L	V	-	1	0	GABRA4	46675858	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.794000	0.85869	2.485000	0.83878	0.557000	0.71058	GTG		0.343	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			14	32	1	0	1.5e-05	1.76e-05	14	32				
NFXL1	152518	broad.mit.edu	37	4	47853907	47853907	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:47853907G>T	ENST00000507489.1	-	21	2650	c.2474C>A	c.(2473-2475)aCa>aAa	p.T825K	NFXL1_ENST00000381538.3_Missense_Mutation_p.T825K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	825						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTTGCACGTTGTGTCACATTC	0.353																																						uc010igh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2473-2475)ACA>AAA		nuclear transcription factor, X-box binding-like							180.0	161.0	168.0					4																	47853907		2203	4300	6503	SO:0001583	missense	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47853907G>T	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2474C>A	4.37:g.47853907G>T	ENSP00000422037:p.Thr825Lys					NFXL1_uc003gxo.2_Missense_Mutation_p.T150K|NFXL1_uc003gxp.2_Missense_Mutation_p.T825K|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.T825K	p.T825K	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			21	2651	-			825			Potential.		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	c.2474C>A	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	G	3.584	-0.085010	0.07097	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.28666	1.6;1.6	5.82	4.06	0.47325	.	0.932352	0.09117	N	0.846222	T	0.15305	0.0369	N	0.08118	0	0.25778	N	0.984765	B	0.21905	0.062	B	0.18263	0.021	T	0.17868	-1.0355	10	0.06365	T	0.9	0.0614	10.7879	0.46415	0.0685:0.0:0.8006:0.1309	.	825	Q6ZNB6	NFXL1_HUMAN	K	825	ENSP00000370949:T825K;ENSP00000422037:T825K	ENSP00000370949:T825K	T	-	2	0	NFXL1	47548664	0.014000	0.17966	0.013000	0.15412	0.008000	0.06430	1.466000	0.35310	0.764000	0.33197	0.655000	0.94253	ACA		0.353	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		18	72	1	0	1.16e-05	1.37e-05	18	72				
CNGA1	1259	broad.mit.edu	37	4	47939007	47939007	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:47939007G>T	ENST00000514170.1	-	11	1823	c.1504C>A	c.(1504-1506)Cct>Act	p.P502T	CNGA1_ENST00000544810.1_Missense_Mutation_p.P502T|CNGA1_ENST00000420489.2_Missense_Mutation_p.P502T|CNGA1_ENST00000402813.3_Missense_Mutation_p.P571T|CNGA1_ENST00000358519.4_Missense_Mutation_p.P502T			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	502					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TAATCTCCAGGACTGTAGACT	0.438																																						uc003gxt.3		NA																	0				ovary(2)	2						c.(1504-1506)CCT>ACT		cyclic nucleotide gated channel alpha 1 isoform							130.0	127.0	128.0					4																	47939007		2031	4224	6255	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939007G>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1504C>A	4.37:g.47939007G>T	ENSP00000426862:p.Pro502Thr					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.P571T	p.P502T	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1770	-			502			cGMP (Potential).|Cytoplasmic (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1504C>A	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386096	0.61956	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41	4.91	4.91	0.64330	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99701	1.1004	10	0.87932	D	0	.	18.4841	0.90823	0.0:0.0:1.0:0.0	.	502;502	Q4W5E3;P29973	.;CNGA1_HUMAN	T	571;502;502;502;502	ENSP00000384264:P571T;ENSP00000426862:P502T;ENSP00000443401:P502T;ENSP00000351320:P502T;ENSP00000389881:P502T	ENSP00000351320:P502T	P	-	1	0	CNGA1	47633764	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.429000	0.82318	0.484000	0.47621	CCT		0.438	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		19	106	1	0	5.04e-11	6.73e-11	19	106				
SGCB	6443	broad.mit.edu	37	4	52895089	52895089	+	Splice_Site	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:52895089T>A	ENST00000381431.5	-	4	652		c.e4-2		SGCB_ENST00000535450.1_Splice_Site	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)						cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAAAACAATCTTCAAAAAAAA	0.294																																						uc003gzj.2		NA																	0					0						c.e4-1		sarcoglycan, beta							44.0	44.0	44.0					4																	52895089		2202	4299	6501	SO:0001630	splice_region_variant	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52895089T>A	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.430-2A>T	4.37:g.52895089T>A						SGCB_uc011bzp.1_Splice_Site_p.I74_splice	p.I144_splice	NM_000232	NP_000223	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		4	490	-								B7Z635|O00661	Splice_Site	SNP	ENST00000381431.5	37	c.430_splice	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039194	0.75617	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5364	0.67963	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SGCB	52589846	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.040000	0.89188	2.045000	0.60652	0.533000	0.62120	.		0.294	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2		Intron	8	32	0	0	0	0	8	32				
USP46	64854	broad.mit.edu	37	4	53494256	53494256	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:53494256C>A	ENST00000441222.3	-	3	376	c.192G>T	c.(190-192)ttG>ttT	p.L64F	USP46_ENST00000451218.2_Missense_Mutation_p.L37F|USP46_ENST00000508499.1_Missense_Mutation_p.L57F	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	64	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CCTTGTATGCCAACACATTCT	0.517																																						uc003gzn.2		NA																	0				ovary(1)	1						c.(190-192)TTG>TTT		ubiquitin specific peptidase 46 isoform 1							98.0	93.0	95.0					4																	53494256		2022	4178	6200	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53494256C>A	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.192G>T	4.37:g.53494256C>A	ENSP00000407818:p.Leu64Phe					USP46_uc003gzm.3_Missense_Mutation_p.L57F|USP46_uc011bzr.1_Missense_Mutation_p.L41F|USP46_uc011bzs.1_5'UTR	p.L64F	NM_022832	NP_073743	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		3	377	-			64					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.192G>T	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310779	0.81358	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.08282	3.11;3.11;3.11	5.25	5.25	0.73442	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.47455	D	0.000225	T	0.33702	0.0872	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.994;0.983	T	0.15896	-1.0421	10	0.72032	D	0.01	-10.8107	11.6233	0.51130	0.0:0.9093:0.0:0.0907	.	52;64;57	P62068-4;P62068;P62068-3	.;UBP46_HUMAN;.	F	64;37;57	ENSP00000407818:L64F;ENSP00000390102:L37F;ENSP00000423244:L57F	ENSP00000407818:L64F	L	-	3	2	USP46	53189013	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.858000	0.55979	2.618000	0.88619	0.655000	0.94253	TTG		0.517	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		14	31	1	0	6.72e-11	8.94e-11	14	31				
SCFD2	152579	broad.mit.edu	37	4	54179841	54179841	+	Missense_Mutation	SNP	G	G	T	rs138747864	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:54179841G>T	ENST00000401642.3	-	3	1230	c.1097C>A	c.(1096-1098)gCg>gAg	p.A366E	SCFD2_ENST00000388940.4_Missense_Mutation_p.A366E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	366					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCTGCTTGCCGCTTCCACTAG	0.468																																						uc003gzu.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1096-1098)GCG>GAG		sec1 family domain containing 2							202.0	151.0	168.0					4																	54179841		2203	4300	6503	SO:0001583	missense	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54179841G>T	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1097C>A	4.37:g.54179841G>T	ENSP00000384182:p.Ala366Glu					SCFD2_uc010igm.2_Missense_Mutation_p.A366E	p.A366E	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		3	1231	-			366					Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	c.1097C>A	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015241	0.54468	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.79845	-1.31;-1.31	5.59	5.59	0.84812	.	0.266986	0.34802	N	0.003668	D	0.87273	0.6136	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.69078	0.997;0.994	D;P	0.63703	0.917;0.829	D	0.84845	0.0810	10	0.30854	T	0.27	.	18.365	0.90388	0.0:0.0:1.0:0.0	.	366;366	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	E	366	ENSP00000384182:A366E;ENSP00000373592:A366E	ENSP00000373592:A366E	A	-	2	0	SCFD2	53874598	1.000000	0.71417	0.997000	0.53966	0.005000	0.04900	9.003000	0.93577	2.647000	0.89833	0.555000	0.69702	GCG		0.468	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		15	31	1	0	7.93e-07	9.68e-07	15	31				
UGT2A1	10941	broad.mit.edu	37	4	70513300	70513300	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:70513300C>T	ENST00000503640.1	-	1	118	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2A1_ENST00000514019.1_Silent_p.G21G|UGT2A1_ENST00000286604.4_Silent_p.G21G|UGT2A1_ENST00000512704.1_Silent_p.G21G	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	21					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCAAAACATTCCCACCAAGAG	0.388																																						uc003hem.3		NA																	0				ovary(1)	1						c.(61-63)GGG>GGA		UDP glucuronosyltransferase 2 family,							57.0	55.0	56.0					4																	70513300		2203	4298	6501	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70513300C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.63G>A	4.37:g.70513300C>T						UGT2A1_uc011caq.1_Silent_p.G21G|UGT2A1_uc010ihu.2_Silent_p.G21G|UGT2A1_uc010iht.2_Silent_p.G21G	p.G21G	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			1	126	-			21			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.63G>A	CCDS3529.1																																																																																				0.388	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		11	25	0	0	0	0	11	25				
PPBP	5473	broad.mit.edu	37	4	74853045	74853045	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:74853045G>A	ENST00000296028.3	-	3	424	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	111					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)	p.P111T(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTGATTCTGGGAGCATCTGGG	0.428																																						uc003hhj.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(331-333)CCC>TCC		pro-platelet basic protein precursor							118.0	119.0	119.0					4																	74853045		2203	4300	6503	SO:0001583	missense	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853045G>A	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.331C>T	4.37:g.74853045G>A	ENSP00000296028:p.Pro111Ser						p.P111S	NM_002704	NP_002695	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		3	411	-	Breast(15;0.00136)		111					B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	c.331C>T	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231077	0.58777	.	.	ENSG00000163736	ENST00000296028	T	0.05447	3.44	2.8	1.92	0.25849	Chemokine interleukin-8-like domain (3);	0.340580	0.27768	N	0.017932	T	0.22589	0.0545	M	0.84948	2.725	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.02365	-1.1170	10	0.87932	D	0	-3.1121	7.5807	0.27963	0.0:0.2669:0.7331:0.0	.	111	P02775	CXCL7_HUMAN	S	111	ENSP00000296028:P111S	ENSP00000296028:P111S	P	-	1	0	PPBP	75071909	0.030000	0.19436	0.001000	0.08648	0.852000	0.48524	1.189000	0.32114	0.484000	0.27630	0.305000	0.20034	CCC		0.428	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		22	65	0	0	0	0	22	65				
CNOT6L	246175	broad.mit.edu	37	4	78650155	78650155	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:78650155C>T	ENST00000504123.1	-	10	1235	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	CNOT6L_ENST00000264903.4_Missense_Mutation_p.D369N			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	369	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AGCTTCACATCAGAATACTCT	0.428																																						uc011ccd.1		NA																	0				large_intestine(1)	1						c.(1105-1107)GAT>AAT		CCR4-NOT transcription complex, subunit 6-like							117.0	112.0	114.0					4																	78650155		1861	4101	5962	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78650155C>T	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1105G>A	4.37:g.78650155C>T	ENSP00000424896:p.Asp369Asn					CNOT6L_uc003hks.2_Missense_Mutation_p.D369N|CNOT6L_uc003hkt.1_Missense_Mutation_p.D212N	p.D369N	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			10	1236	-			369					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1105G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.551076	0.96501	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.73	5.73	0.89815	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.91923	0.5549	10	0.87932	D	0	-5.083	19.8926	0.96935	0.0:1.0:0.0:0.0	.	342;369	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	N	369;369;376;144	ENSP00000424896:D369N;ENSP00000264903:D369N;ENSP00000425571:D376N;ENSP00000426320:D144N	ENSP00000264903:D369N	D	-	1	0	CNOT6L	78869179	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.709000	0.92574	0.563000	0.77884	GAT		0.428	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			40	95	0	0	0	0	40	95				
ARHGAP24	83478	broad.mit.edu	37	4	86915782	86915782	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:86915782T>C	ENST00000395184.1	+	9	1441	c.975T>C	c.(973-975)caT>caC	p.H325H	ARHGAP24_ENST00000264343.4_Silent_p.H232H|ARHGAP24_ENST00000395183.2_Silent_p.H230H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	325	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTAGCAAACATGATTGCCTCT	0.418																																						uc003hpk.2		NA																	0					0						c.(973-975)CAT>CAC		Rho GTPase activating protein 24 isoform 1							169.0	164.0	166.0					4																	86915782		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86915782T>C	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.975T>C	4.37:g.86915782T>C						ARHGAP24_uc003hpl.2_Silent_p.H230H|ARHGAP24_uc010ikf.2_Silent_p.H240H|ARHGAP24_uc003hpm.2_Silent_p.H232H	p.H325H	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1424	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	325			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.975T>C	CCDS34025.1																																																																																				0.418	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		46	125	0	0	0	0	46	125				
EGF	1950	broad.mit.edu	37	4	110902034	110902034	+	Silent	SNP	G	G	A	rs200092663	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:110902034G>A	ENST00000265171.5	+	15	2719	c.2274G>A	c.(2272-2274)aaG>aaA	p.K758K	EGF_ENST00000503392.1_Silent_p.K758K|EGF_ENST00000509793.1_Silent_p.K716K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	758	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TTTGCAAAAAGAGGCTTGGAA	0.438																																						uc003hzy.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2272-2274)AAG>AAA		epidermal growth factor precursor	Sulindac(DB00605)						180.0	172.0	175.0					4																	110902034		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110902034G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2274G>A	4.37:g.110902034G>A						EGF_uc011cfu.1_Silent_p.K716K|EGF_uc011cfv.1_Silent_p.K758K|EGF_uc010imk.2_5'UTR	p.K758K	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	15	2726	+		Hepatocellular(203;0.0893)	758			Extracellular (Potential).|EGF-like 5.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.2274G>A	CCDS3689.1																																																																																				0.438	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			22	90	0	0	0	0	22	90				
MAML3	55534	broad.mit.edu	37	4	140640738	140640738	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:140640738G>A	ENST00000509479.2	-	5	4012	c.3156C>T	c.(3154-3156)agC>agT	p.S1052S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGACTCCCTGGCTCAGGCCAG	0.647																																						uc003ihz.1		NA																	0				ovary(1)	1						c.(3139-3141)AGC>AGT		mastermind-like 3							30.0	32.0	31.0					4																	140640738		2191	4292	6483	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140640738G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3156C>T	4.37:g.140640738G>A						MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.S515S	p.S1047S	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			7	3893	-	all_hematologic(180;0.162)		1048						Silent	SNP	ENST00000509479.2	37	c.3141C>T	CCDS54805.1																																																																																				0.647	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	31	0	0	0	0	5	31				
RNF150	57484	broad.mit.edu	37	4	141868813	141868813	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:141868813G>T	ENST00000515673.2	-	4	918	c.885C>A	c.(883-885)ccC>ccA	p.P295P	RNF150_ENST00000420921.2_Silent_p.P154P|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Silent_p.P295P|RNF150_ENST00000306799.3_Silent_p.P253P|RNF150_ENST00000379512.2_Silent_p.P154P			Q9ULK6	RN150_HUMAN	ring finger protein 150	295						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CTCACCGGCAGGGCAGGATCC	0.562																																						uc003iio.1		NA																	0				ovary(1)	1						c.(883-885)CCC>CCA		ring finger protein 150 precursor							144.0	114.0	124.0					4																	141868813		2203	4300	6503	SO:0001819	synonymous_variant	57484					integral to membrane	zinc ion binding	g.chr4:141868813G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.885C>A	4.37:g.141868813G>T						RNF150_uc010iok.1_Silent_p.P253P|RNF150_uc003iip.1_Silent_p.P295P	p.P295P	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			4	1539	-	all_hematologic(180;0.162)		295			Cytoplasmic (Potential).|RING-type; atypical.		Q3T1D0|Q6ZNW6	Silent	SNP	ENST00000515673.2	37	c.885C>A	CCDS34065.1																																																																																				0.562	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		18	69	1	0	3.88e-16	5.49e-16	18	69				
INPP4B	8821	broad.mit.edu	37	4	143130163	143130163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:143130163C>A	ENST00000513000.1	-	14	1286	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	INPP4B_ENST00000262992.4_Nonsense_Mutation_p.E285*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.E285*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.E285*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.E285*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	285					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCACCAAGTTCTTTTATCTCC	0.363																																						uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.(853-855)GAA>TAA		inositol polyphosphate-4-phosphatase, type II,							104.0	98.0	100.0					4																	143130163		2203	4300	6503	SO:0001587	stop_gained	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143130163C>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.853G>T	4.37:g.143130163C>A	ENSP00000425487:p.Glu285*					INPP4B_uc003iiw.3_Nonsense_Mutation_p.E285*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.E100*|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Nonsense_Mutation_p.E156*	p.E285*	NM_003866	NP_003857	O15327	INP4B_HUMAN			14	1448	-	all_hematologic(180;0.158)		285					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Nonsense_Mutation	SNP	ENST00000513000.1	37	c.853G>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	38	6.968410	0.97971	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	.	.	.	5.76	4.93	0.64822	.	0.121123	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	14.1049	0.65083	0.0:0.9264:0.0:0.0736	.	.	.	.	X	285;285;285;156;285;285;100;100;285;156	.	ENSP00000262992:E285X	E	-	1	0	INPP4B	143349613	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.866000	0.69590	1.579000	0.49836	-0.145000	0.13849	GAA		0.363	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		10	42	1	0	2.27e-07	2.81e-07	10	42				
KIAA0922	23240	broad.mit.edu	37	4	154556600	154556600	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:154556600C>T	ENST00000409663.3	+	34	4483	c.4431C>T	c.(4429-4431)gcC>gcT	p.A1477A	KIAA0922_ENST00000440693.1_Silent_p.A1394A|KIAA0922_ENST00000409959.3_Silent_p.A1478A	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1477						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGAACTATGCCAATGGCTTCC	0.438																																						uc003inm.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(4429-4431)GCC>GCT		hypothetical protein LOC23240 isoform 2							125.0	108.0	114.0					4																	154556600		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154556600C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4431C>T	4.37:g.154556600C>T						KIAA0922_uc010ipp.2_Silent_p.A1478A|KIAA0922_uc010ipq.2_Silent_p.A1246A	p.A1477A	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			34	4483	+	all_hematologic(180;0.093)	Renal(120;0.118)	1477			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.4431C>T	CCDS3783.2																																																																																				0.438	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		21	67	0	0	0	0	21	67				
DCHS2	54798	broad.mit.edu	37	4	155256021	155256021	+	Splice_Site	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:155256021C>G	ENST00000357232.4	-	8	1214	c.1215G>C	c.(1213-1215)ttG>ttC	p.L405F	DCHS2_ENST00000339452.1_Splice_Site_p.L904F|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	405	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTACTTACTCAAGGGCTCTC	0.373																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1213-1215)TTG>TTC		dachsous 2 isoform 1							103.0	103.0	103.0					4																	155256021		2203	4300	6503	SO:0001630	splice_region_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155256021C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1216+1G>C	4.37:g.155256021C>G						DCHS2_uc003inx.2_Missense_Mutation_p.L904F	p.L405F	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	8	1215	-	all_hematologic(180;0.208)	Renal(120;0.0854)	405			Cadherin 3.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1215G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009578	0.35415	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.51325	0.71;0.71	6.17	3.11	0.35812	Cadherin (4);Cadherin-like (1);	0.236888	0.28853	N	0.013926	T	0.40619	0.1124	L	0.54323	1.7	0.80722	D	1	B;B	0.19445	0.036;0.016	B;B	0.21708	0.036;0.036	T	0.21245	-1.0251	10	0.29301	T	0.29	.	9.7801	0.40643	0.0:0.6547:0.0:0.3453	.	904;405	E9PC11;Q6V1P9	.;PCD23_HUMAN	F	405;904;904	ENSP00000349768:L405F;ENSP00000345062:L904F	ENSP00000345062:L904F	L	-	3	2	DCHS2	155475471	0.958000	0.32768	1.000000	0.80357	0.735000	0.41995	0.130000	0.15850	0.922000	0.37019	0.655000	0.94253	TTG		0.373	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	Missense_Mutation	23	63	0	0	0	0	23	63				
NAF1	92345	broad.mit.edu	37	4	164087774	164087774	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:164087774G>A	ENST00000274054.2	-	1	299	c.106C>T	c.(106-108)Cct>Tct	p.P36S	NAF1_ENST00000422287.2_Missense_Mutation_p.P36S	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	36					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CCTGGCACAGGGGCAGAGCCC	0.667																																						uc003iqj.2		NA																	0				ovary(2)	2						c.(106-108)CCT>TCT		nuclear assembly factor 1 homolog isoform a							9.0	13.0	12.0					4																	164087774		2092	4246	6338	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164087774G>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.106C>T	4.37:g.164087774G>A	ENSP00000274054:p.Pro36Ser					NAF1_uc010iqw.1_Missense_Mutation_p.P36S|NAF1_uc003iqk.2_RNA	p.P36S	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			1	300	-	all_hematologic(180;0.166)	Prostate(90;0.109)	36					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.106C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398326	0.25205	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.36699	1.24;1.26	3.25	-3.6	0.04570	.	14.778200	0.00166	N	0.000013	T	0.17492	0.0420	N	0.24115	0.695	0.09310	N	1	B;B	0.15141	0.0;0.012	B;B	0.06405	0.001;0.002	T	0.11941	-1.0567	10	0.06236	T	0.91	-0.0275	0.5454	0.00653	0.2006:0.2835:0.2283:0.2876	.	36;36	E9PAZ2;Q96HR8	.;NAF1_HUMAN	S	36	ENSP00000408963:P36S;ENSP00000274054:P36S	ENSP00000274054:P36S	P	-	1	0	NAF1	164307224	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.044000	0.12023	-0.965000	0.03591	-0.856000	0.03024	CCT		0.667	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		8	18	0	0	0	0	8	18				
ADAM29	11086	broad.mit.edu	37	4	175896769	175896769	+	Silent	SNP	G	G	T	rs370385070		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:175896769G>T	ENST00000359240.3	+	5	763	c.93G>T	c.(91-93)ccG>ccT	p.P31P	ADAM29_ENST00000445694.1_Silent_p.P31P|ADAM29_ENST00000514159.1_Silent_p.P31P|ADAM29_ENST00000404450.4_Silent_p.P31P|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	31			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAGCCCTCCGGATGTGGTGA	0.517																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0		p.P31L(1)		skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(91-93)CCG>CCT		ADAM metallopeptidase domain 29 preproprotein							81.0	79.0	80.0					4																	175896769		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896769G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.93G>T	4.37:g.175896769G>T						ADAM29_uc003iud.2_Silent_p.P31P|ADAM29_uc010irr.2_Silent_p.P31P|ADAM29_uc011cki.1_Silent_p.P31P	p.P31P	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	763	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	31		P -> L (in a colorectal cancer sample; somatic mutation).			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.93G>T	CCDS3823.1																																																																																				0.517	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				25	54	1	0	4.4e-07	5.43e-07	25	54				
WDR17	116966	broad.mit.edu	37	4	177056354	177056354	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:177056354T>C	ENST00000280190.4	+	9	1422	c.1266T>C	c.(1264-1266)gaT>gaC	p.D422D	WDR17_ENST00000507824.2_Silent_p.D405D|WDR17_ENST00000393643.2_Silent_p.D398D|WDR17_ENST00000508596.1_Silent_p.D398D			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	422										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAGTCTGGGATATAAACACAT	0.383																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1264-1266)GAT>GAC		WD repeat domain 17 isoform 1							118.0	119.0	119.0					4																	177056354		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177056354T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1266T>C	4.37:g.177056354T>C						WDR17_uc003iuk.2_Silent_p.D398D|WDR17_uc003ium.3_Silent_p.D398D|WDR17_uc003iul.1_Intron	p.D422D	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	9	1422	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	422			WD 6.		E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.1266T>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	9.804	1.181261	0.21787	.	.	ENSG00000150627	ENST00000505894	.	.	.	5.28	1.36	0.22044	.	.	.	.	.	T	0.57621	0.2066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49428	-0.8941	4	.	.	.	-23.7282	9.3898	0.38365	0.0:0.3055:0.0:0.6945	.	.	.	.	T	171	.	.	I	+	2	0	WDR17	177293348	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	0.799000	0.27028	0.016000	0.14998	0.528000	0.53228	ATA		0.383	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			19	37	0	0	0	0	19	37				
WDR17	116966	broad.mit.edu	37	4	177084375	177084375	+	Missense_Mutation	SNP	A	A	T	rs141454308		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:177084375A>T	ENST00000280190.4	+	23	3149	c.2993A>T	c.(2992-2994)gAg>gTg	p.E998V	WDR17_ENST00000507824.2_Missense_Mutation_p.E981V|WDR17_ENST00000393643.2_Missense_Mutation_p.E974V|WDR17_ENST00000508596.1_Missense_Mutation_p.E974V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	998										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTACTAGGAGAGTCTGCAGCA	0.408													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17470	0.0		0.0	False		,,,				2504	0.0					uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2992-2994)GAG>GTG		WD repeat domain 17 isoform 1		A	VAL/GLU,VAL/GLU	1,4405	2.1+/-5.4	0,1,2202	141.0	131.0	135.0		2993,2921	5.4	0.2	4	dbSNP_134	135	0,8600		0,0,4300	no	missense,missense	WDR17	NM_170710.4,NM_181265.3	121,121	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	benign,benign	998/1323,974/1284	177084375	1,13005	2203	4300	6503	SO:0001583	missense	116966							g.chr4:177084375A>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2993A>T	4.37:g.177084375A>T	ENSP00000280190:p.Glu998Val					WDR17_uc003iuk.2_Missense_Mutation_p.E974V|WDR17_uc003ium.3_Missense_Mutation_p.E974V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.E217V	p.E998V	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	23	3149	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	998					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2993A>T	CCDS3825.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	A|A	19.60|19.60	3.857167|3.857167	0.71834|0.71834	2.27E-4|2.27E-4	0.0|0.0	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.60040|.	0.26;0.28;0.22|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.054789|.	0.64402|.	D|.	0.000001|.	T|T	0.73682|0.73682	0.3618|0.3618	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	P;P;P|.	0.51240|.	0.903;0.943;0.943|.	B;P;P|.	0.47206|.	0.386;0.541;0.541|.	T|T	0.74080|0.74080	-0.3780|-0.3780	10|5	0.87932|.	D|.	0|.	-14.9823|-14.9823	15.4476|15.4476	0.75243|0.75243	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	974;974;998|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	V|S	974;974;998;981|240	ENSP00000422763:E974V;ENSP00000377258:E974V;ENSP00000280190:E998V|.	ENSP00000280190:E998V|.	E|R	+|+	2|3	0|2	WDR17|WDR17	177321369|177321369	1.000000|1.000000	0.71417|0.71417	0.215000|0.215000	0.23724|0.23724	0.730000|0.730000	0.41778|0.41778	6.742000|6.742000	0.74843|0.74843	2.047000|2.047000	0.60756|0.60756	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.408	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			24	49	0	0	0	0	24	49				
SLC12A7	10723	broad.mit.edu	37	5	1076277	1076277	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:1076277C>A	ENST00000264930.5	-	14	1866	c.1823G>T	c.(1822-1824)cGt>cTt	p.R608L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	608					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAAGCGTGGACGCCAGTTGGG	0.642																																						uc003jbu.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1822-1824)CGT>CTT		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						67.0	57.0	61.0					5																	1076277		2196	4297	6493	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1076277C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1823G>T	5.37:g.1076277C>A	ENSP00000264930:p.Arg608Leu						p.R608L	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		14	1889	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		608			Cytoplasmic (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1823G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.321723	0.81580	.	.	ENSG00000113504	ENST00000264930	D	0.99523	-6.08	4.37	4.37	0.52481	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97072	0.9778	10	0.87932	D	0	.	14.7499	0.69516	0.0:1.0:0.0:0.0	.	608	Q9Y666	S12A7_HUMAN	L	608	ENSP00000264930:R608L	ENSP00000264930:R608L	R	-	2	0	SLC12A7	1129277	1.000000	0.71417	0.981000	0.43875	0.815000	0.46073	6.909000	0.75735	2.131000	0.65755	0.491000	0.48974	CGT		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		8	14	1	0	0.000673444	0.000753027	8	14				
ADAMTS16	170690	broad.mit.edu	37	5	5146522	5146522	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:5146522G>T	ENST00000274181.7	+	3	593	c.455G>T	c.(454-456)cGa>cTa	p.R152L	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R152L|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	152					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCTCTTTGCGATCACACAGA	0.537																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(454-456)CGA>CTA		ADAM metallopeptidase with thrombospondin type 1							102.0	100.0	101.0					5																	5146522		1924	4140	6064	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146522G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.455G>T	5.37:g.5146522G>T	ENSP00000274181:p.Arg152Leu					ADAMTS16_uc003jdk.1_Missense_Mutation_p.R152L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R152L	p.R152L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			3	593	+			152					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.455G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705409	0.30232	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.06449	3.3;3.3	5.74	4.87	0.63330	Peptidase M12B, propeptide (1);	0.155014	0.41938	D	0.000798	T	0.15046	0.0363	M	0.72479	2.2	0.20764	N	0.999859	D;B;B	0.58268	0.982;0.383;0.153	P;B;B	0.57548	0.823;0.203;0.306	T	0.11941	-1.0567	10	0.16896	T	0.51	.	8.9131	0.35565	0.0762:0.0:0.7755:0.1483	.	152;152;152	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	L	152	ENSP00000274181:R152L;ENSP00000421631:R152L	ENSP00000274181:R152L	R	+	2	0	ADAMTS16	5199522	1.000000	0.71417	0.004000	0.12327	0.193000	0.23685	3.636000	0.54317	1.557000	0.49525	0.563000	0.77884	CGA		0.537	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		38	102	1	0	1.59e-26	2.35e-26	38	102				
ADAMTS16	170690	broad.mit.edu	37	5	5306737	5306737	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:5306737C>A	ENST00000274181.7	+	21	3445	c.3307C>A	c.(3307-3309)Ctg>Atg	p.L1103M		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1103	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAAGCCCAGCCTGGAGCTGGA	0.562																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(3307-3309)CTG>ATG		ADAM metallopeptidase with thrombospondin type 1							54.0	56.0	55.0					5																	5306737		1944	4126	6070	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5306737C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3307C>A	5.37:g.5306737C>A	ENSP00000274181:p.Leu1103Met						p.L1103M	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			21	3445	+			1103			TSP type-1 5.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3307C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530938	0.45073	.	.	ENSG00000145536	ENST00000274181	T	0.62364	0.03	5.51	3.71	0.42584	.	0.182769	0.34603	N	0.003821	T	0.54127	0.1839	L	0.42245	1.32	0.33090	D	0.537799	P	0.50710	0.938	P	0.46659	0.523	T	0.62723	-0.6794	10	0.30078	T	0.28	.	7.9066	0.29765	0.0:0.7388:0.1721:0.0891	.	1103	Q8TE57	ATS16_HUMAN	M	1103	ENSP00000274181:L1103M	ENSP00000274181:L1103M	L	+	1	2	ADAMTS16	5359737	0.443000	0.25641	0.902000	0.35471	0.631000	0.37964	0.628000	0.24522	1.318000	0.45170	0.561000	0.74099	CTG		0.562	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		15	47	1	0	1.52e-12	2.07e-12	15	47				
ADCY2	108	broad.mit.edu	37	5	7521006	7521006	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:7521006C>A	ENST00000338316.4	+	3	653	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	188				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCACCTGGTCTGGCAGGTGG	0.607																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(562-564)GTC>GTA		adenylate cyclase 2							147.0	101.0	117.0					5																	7521006		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7521006C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.564C>A	5.37:g.7521006C>A							p.V188V	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			3	631	+			188	VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).		Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.564C>A	CCDS3872.2																																																																																				0.607	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		18	64	1	0	8.34e-07	1.02e-06	18	64				
SEMA5A	9037	broad.mit.edu	37	5	9119147	9119147	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:9119147C>A	ENST00000382496.5	-	15	2553	c.1888G>T	c.(1888-1890)Ggg>Tgg	p.G630W		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	630	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCCGGCCCCCGTGCCTGGGA	0.677																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1888-1890)GGG>TGG		semaphorin 5A precursor																																				SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9119147C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1888G>T	5.37:g.9119147C>A	ENSP00000371936:p.Gly630Trp						p.G630W	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			15	2600	-			630			TSP type-1 2.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1888G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910806	0.92178	.	.	ENSG00000112902	ENST00000382496	T	0.23348	1.91	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81015	-0.1124	10	0.87932	D	0	.	16.5181	0.84306	0.0:1.0:0.0:0.0	.	630	Q13591	SEM5A_HUMAN	W	630	ENSP00000371936:G630W	ENSP00000371936:G630W	G	-	1	0	SEMA5A	9172147	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.510000	0.81708	2.500000	0.84329	0.557000	0.71058	GGG		0.677	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			20	39	1	0	3.52e-12	4.76e-12	20	39				
SEMA5A	9037	broad.mit.edu	37	5	9337825	9337825	+	Splice_Site	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:9337825C>A	ENST00000382496.5	-	4	889	c.224G>T	c.(223-225)aGa>aTa	p.R75I		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	75	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TATCTCTCACCTTGCTCCTAC	0.423																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(223-225)AGA>ATA		semaphorin 5A precursor							78.0	72.0	74.0					5																	9337825		2203	4300	6503	SO:0001630	splice_region_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9337825C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.224+1G>T	5.37:g.9337825C>A							p.R75I	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			4	936	-			75			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.224G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294773	0.81025	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.26660	1.72;1.72	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	H	0.94582	3.555	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.72890	-0.4155	9	.	.	.	.	14.6252	0.68616	0.0:1.0:0.0:0.0	.	75	Q13591	SEM5A_HUMAN	I	75	ENSP00000371936:R75I;ENSP00000421961:R75I	.	R	-	2	0	SEMA5A	9390825	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.413000	0.66399	2.600000	0.87896	0.655000	0.94253	AGA		0.423	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		Missense_Mutation	8	35	1	0	0.000274275	0.00031058	8	35				
DNAH5	1767	broad.mit.edu	37	5	13758967	13758967	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:13758967C>A	ENST00000265104.4	-	61	10511	c.10407G>T	c.(10405-10407)atG>atT	p.M3469I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3469	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTTTCAGTCATGGCCTGTT	0.532									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10405-10407)ATG>ATT		dynein, axonemal, heavy chain 5							173.0	159.0	163.0					5																	13758967		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13758967C>A	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.10407G>T	5.37:g.13758967C>A	ENSP00000265104:p.Met3469Ile					DNAH5_uc003jfc.2_5'UTR	p.M3469I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			61	10449	-	Lung NSC(4;0.00476)		3469			Stalk (By similarity).|Potential.		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10407G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701755	0.68501	.	.	ENSG00000039139	ENST00000265104	T	0.73681	-0.77	5.78	5.78	0.91487	Dynein heavy chain, coiled coil stalk (1);	0.122079	0.64402	D	0.000001	T	0.75155	0.3811	L	0.54863	1.705	0.80722	D	1	B	0.24186	0.099	B	0.33196	0.159	T	0.68727	-0.5332	10	0.30854	T	0.27	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	3469	Q8TE73	DYH5_HUMAN	I	3469	ENSP00000265104:M3469I	ENSP00000265104:M3469I	M	-	3	0	DNAH5	13811967	1.000000	0.71417	0.993000	0.49108	0.750000	0.42670	4.893000	0.63199	2.742000	0.94016	0.650000	0.86243	ATG		0.532	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		57	133	1	0	4.88e-21	7.14e-21	57	133				
DNAH5	1767	broad.mit.edu	37	5	13786380	13786380	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:13786380G>A	ENST00000265104.4	-	52	8832	c.8728C>T	c.(8728-8730)Ctg>Ttg	p.L2910L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2910					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)					AACATATTCAGACGCTCTTTT	0.428									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(8728-8730)CTG>TTG		dynein, axonemal, heavy chain 5							92.0	89.0	90.0					5																	13786380		2203	4300	6503	SO:0001819	synonymous_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.chr5:13786380G>A	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.8728C>T	5.37:g.13786380G>A							p.L2910L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			52	8770	-	Lung NSC(4;0.00476)		2910					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.8728C>T	CCDS3882.1																																																																																				0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		14	48	0	0	0	0	14	48				
CAPSL	133690	broad.mit.edu	37	5	35910057	35910057	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:35910057G>A	ENST00000397367.2	-	4	562	c.436C>T	c.(436-438)Cca>Tca	p.P146S	CAPSL_ENST00000514524.1_Missense_Mutation_p.P146S|CAPSL_ENST00000397366.1_Missense_Mutation_p.P146S	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	146	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGGTACTTTGGGTGGTGTTTT	0.368																																						uc003jjt.1		NA																	0				skin(1)	1						c.(436-438)CCA>TCA		calcyphosine-like							202.0	200.0	200.0					5																	35910057		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910057G>A	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.436C>T	5.37:g.35910057G>A	ENSP00000380524:p.Pro146Ser					CAPSL_uc003jju.1_Missense_Mutation_p.P146S	p.P146S	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	531	-	all_lung(31;0.000268)		146			EF-hand 3.			Missense_Mutation	SNP	ENST00000397367.2	37	c.436C>T	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946443	0.73672	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.72051	-0.62;-0.62;-0.62;0.54	5.57	5.57	0.84162	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85141	0.5629	M	0.88450	2.955	0.80722	D	1	D	0.63880	0.993	P	0.57720	0.826	D	0.87059	0.2152	10	0.56958	D	0.05	-10.5384	19.5326	0.95235	0.0:0.0:1.0:0.0	.	146	Q8WWF8	CAPSL_HUMAN	S	146	ENSP00000380524:P146S;ENSP00000380523:P146S;ENSP00000424806:P146S;ENSP00000421018:P146S	ENSP00000380523:P146S	P	-	1	0	CAPSL	35945814	1.000000	0.71417	0.997000	0.53966	0.480000	0.33159	9.439000	0.97543	2.629000	0.89072	0.455000	0.32223	CCA		0.368	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		28	87	0	0	0	0	28	87				
UGT3A1	133688	broad.mit.edu	37	5	35965526	35965526	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:35965526C>T	ENST00000274278.3	-	4	1162	c.805G>A	c.(805-807)Gga>Aga	p.G269R	UGT3A1_ENST00000507113.1_Missense_Mutation_p.G235R|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G269R|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G215R|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	269						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAAGCCTCCAATATAAACA	0.428																																						uc003jjv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(805-807)GGA>AGA		UDP glycosyltransferase 3 family, polypeptide A1							86.0	89.0	88.0					5																	35965526		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965526C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.805G>A	5.37:g.35965526C>T	ENSP00000274278:p.Gly269Arg					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.G269R|UGT3A1_uc011cor.1_Missense_Mutation_p.G235R|UGT3A1_uc003jjy.1_Missense_Mutation_p.G215R	p.G269R	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	962	-	all_lung(31;0.000197)		269			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.805G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434589	0.62955	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	3.05	3.05	0.35203	.	0.000000	0.64402	D	0.000002	D	0.95245	0.8458	M	0.92649	3.33	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	D	0.96185	0.9133	10	0.87932	D	0	.	13.6483	0.62294	0.0:1.0:0.0:0.0	.	235;269;215;269	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	R	269;269;235;215	ENSP00000274278:G269R;ENSP00000427079:G269R;ENSP00000426100:G235R;ENSP00000328033:G215R	ENSP00000274278:G269R	G	-	1	0	UGT3A1	36001283	1.000000	0.71417	0.591000	0.28745	0.877000	0.50540	3.594000	0.54008	1.629000	0.50426	0.313000	0.20887	GGA		0.428	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		16	62	0	0	0	0	16	62				
DAB2	1601	broad.mit.edu	37	5	39381644	39381644	+	Silent	SNP	G	G	T	rs199767729		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:39381644G>T	ENST00000320816.6	-	11	1883	c.1416C>A	c.(1414-1416)ccC>ccA	p.P472P	DAB2_ENST00000339788.6_Silent_p.P254P|DAB2_ENST00000509337.1_Silent_p.P451P|DAB2_ENST00000545653.1_Silent_p.P451P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	472					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTGTCCTGTGGGTGACGCCT	0.582																																						uc003jlx.2		NA																	0				kidney(2)|skin(1)	3						c.(1414-1416)CCC>CCA		disabled homolog 2							127.0	126.0	127.0					5																	39381644		2203	4300	6503	SO:0001819	synonymous_variant	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39381644G>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1416C>A	5.37:g.39381644G>T						DAB2_uc003jlw.2_Silent_p.P451P	p.P472P	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		11	1947	-	all_lung(31;0.000197)		472					A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	c.1416C>A	CCDS34149.1																																																																																				0.582	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		32	77	1	0	9.65e-13	1.32e-12	32	77				
HCN1	348980	broad.mit.edu	37	5	45303729	45303729	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:45303729C>G	ENST00000303230.4	-	6	1647	c.1590G>C	c.(1588-1590)atG>atC	p.M530I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	530					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGTCAGCTTCATTTCTTTAC	0.353																																						uc003jok.2		NA																	0				ovary(1)	1						c.(1588-1590)ATG>ATC		hyperpolarization activated cyclic							85.0	82.0	83.0					5																	45303729		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303729C>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1590G>C	5.37:g.45303729C>G	ENSP00000307342:p.Met530Ile						p.M530I	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1615	-			530			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1590G>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735969	0.69189	.	.	ENSG00000164588	ENST00000303230	D	0.92199	-2.99	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.062472	0.64402	D	0.000005	D	0.83004	0.5160	N	0.02379	-0.575	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.76838	-0.2811	10	0.51188	T	0.08	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	530	O60741	HCN1_HUMAN	I	530	ENSP00000307342:M530I	ENSP00000307342:M530I	M	-	3	0	HCN1	45339486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.879000	0.63100	2.809000	0.96659	0.655000	0.94253	ATG		0.353	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		16	66	0	0	0	0	16	66				
HSPB3	8988	broad.mit.edu	37	5	53751686	53751686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:53751686C>T	ENST00000302005.1	+	1	242	c.67C>T	c.(67-69)Cga>Tga	p.R23*		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	23					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GTTTGAAGCTCGAGGTCTAGA	0.502																																						uc003jph.1		NA																	0					0						c.(67-69)CGA>TGA		heat shock 27kDa protein 3							92.0	92.0	92.0					5																	53751686		2203	4300	6503	SO:0001587	stop_gained	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751686C>T	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.67C>T	5.37:g.53751686C>T	ENSP00000303394:p.Arg23*						p.R23*	NM_006308	NP_006299	Q12988	HSPB3_HUMAN			1	242	+		Lung NSC(810;0.00104)	23						Nonsense_Mutation	SNP	ENST00000302005.1	37	c.67C>T	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	C	36	5.972240	0.97162	.	.	ENSG00000169271	ENST00000302005	.	.	.	6.03	6.03	0.97812	.	0.152310	0.39544	N	0.001337	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-11.3093	11.2384	0.48955	0.2321:0.6501:0.1178:0.0	.	.	.	.	X	23	.	ENSP00000303394:R23X	R	+	1	2	HSPB3	53787443	0.983000	0.35010	1.000000	0.80357	0.680000	0.39746	1.936000	0.40183	2.854000	0.98071	0.655000	0.94253	CGA		0.502	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			31	49	0	0	0	0	31	49				
FBN2	2201	broad.mit.edu	37	5	127782271	127782271	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:127782271C>A	ENST00000508053.1	-	13	1829	c.855G>T	c.(853-855)ggG>ggT	p.G285G	FBN2_ENST00000262464.4_Silent_p.G285G|FBN2_ENST00000508989.1_Silent_p.G252G			P35556	FBN2_HUMAN	fibrillin 2	285	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGGCATATCCCTGGGATAG	0.393																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(853-855)GGG>GGT		fibrillin 2 precursor							127.0	116.0	119.0					5																	127782271		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127782271C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.855G>T	5.37:g.127782271C>A						FBN2_uc003kuv.2_Silent_p.G252G|FBN2_uc003kuw.3_Silent_p.G285G|FBN2_uc003kux.1_Silent_p.G285G	p.G285G	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	7	1294	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	285			EGF-like 4; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.855G>T	CCDS34222.1																																																																																				0.393	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		20	25	1	0	6.45e-10	8.49e-10	20	25				
CSF2	1437	broad.mit.edu	37	5	131409633	131409633	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:131409633C>A	ENST00000296871.2	+	1	151	c.117C>A	c.(115-117)gcC>gcA	p.A39A		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	39					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGGAGGCCCGGCGTCTCC	0.647																																						uc003kwf.2		NA																	0					0						c.(115-117)GCC>GCA		colony stimulating factor 2 precursor	Sargramostim(DB00020)						48.0	47.0	47.0					5																	131409633		2203	4300	6503	SO:0001819	synonymous_variant	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131409633C>A	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"""sargramostim"", ""molgramostin"", ""granulocyte-macrophage colony stimulating factor"""	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.117C>A	5.37:g.131409633C>A							p.A39A	NM_000758	NP_000749	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	149	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	39					Q14CE8|Q2VPI8|Q8NFI6	Silent	SNP	ENST00000296871.2	37	c.117C>A	CCDS4150.1																																																																																				0.647	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758		21	45	1	0	4.97e-08	6.25e-08	21	45				
CATSPER3	347732	broad.mit.edu	37	5	134345142	134345142	+	Silent	SNP	C	C	A	rs142712287		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:134345142C>A	ENST00000282611.6	+	6	984	c.898C>A	c.(898-900)Cgg>Agg	p.R300R		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	300					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTCTGCAGCGGCAGCAGGA	0.562																																						uc003lag.2		NA																	0				ovary(1)	1						c.(898-900)CGG>AGG		cation channel, sperm associated 3							94.0	88.0	90.0					5																	134345142		2203	4300	6503	SO:0001819	synonymous_variant	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134345142C>A	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.898C>A	5.37:g.134345142C>A							p.R300R	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	966	+			300					Q86XS6	Silent	SNP	ENST00000282611.6	37	c.898C>A	CCDS4181.1																																																																																				0.562	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		31	60	1	0	2.14e-07	2.66e-07	31	60				
PCDHA6	56142	broad.mit.edu	37	5	140209910	140209910	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:140209910T>A	ENST00000529310.1	+	1	2348	c.2234T>A	c.(2233-2235)gTg>gAg	p.V745E	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	745					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCGCAGTGGGGAGCTGG	0.677																																						uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2233-2235)GTG>GAG		protocadherin alpha 6 isoform 1 precursor							45.0	46.0	45.0					5																	140209910		2203	4299	6502	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209910T>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2234T>A	5.37:g.140209910T>A	ENSP00000433378:p.Val745Glu					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_uc011dab.1_Missense_Mutation_p.V745E	p.V745E	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2261	+			745			Cytoplasmic (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2234T>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	T	5.134	0.210403	0.09757	.	.	ENSG00000081842	ENST00000529310	T	0.19105	2.17	3.98	2.81	0.32909	.	0.244896	0.20304	U	0.094963	T	0.26412	0.0645	M	0.92738	3.34	0.80722	D	1	B;B	0.32365	0.242;0.367	B;B	0.36335	0.222;0.13	T	0.32481	-0.9905	10	0.02654	T	1	.	3.9091	0.09196	0.1552:0.1743:0.0:0.6705	.	745;745	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	E	745	ENSP00000433378:V745E	ENSP00000433378:V745E	V	+	2	0	PCDHA6	140190094	1.000000	0.71417	0.998000	0.56505	0.211000	0.24417	1.015000	0.29963	0.695000	0.31675	0.254000	0.18369	GTG		0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		17	32	0	0	0	0	17	32				
SLC6A7	6534	broad.mit.edu	37	5	149576820	149576820	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:149576820C>A	ENST00000230671.2	+	4	936	c.565C>A	c.(565-567)Ccc>Acc	p.P189T	SLC6A7_ENST00000524041.1_Missense_Mutation_p.P189T	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	189					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CACCGTCAGCCCCAGCGAGGA	0.657																																						uc003lrr.2		NA																	0					0						c.(565-567)CCC>ACC		solute carrier family 6, member 7	L-Proline(DB00172)						43.0	43.0	43.0					5																	149576820		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149576820C>A	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.565C>A	5.37:g.149576820C>A	ENSP00000230671:p.Pro189Thr						p.P189T	NM_014228	NP_055043	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	936	+		all_hematologic(541;0.224)	189			Extracellular (Potential).		Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.565C>A	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445612	0.84101	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.75154	-0.91;-0.91	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.87962	0.6310	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.89845	0.4005	10	0.87932	D	0	.	18.8198	0.92092	0.0:1.0:0.0:0.0	.	189	Q99884	SC6A7_HUMAN	T	189	ENSP00000230671:P189T;ENSP00000428200:P189T	ENSP00000230671:P189T	P	+	1	0	SLC6A7	149557013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.942000	0.70203	2.500000	0.84329	0.655000	0.94253	CCC		0.657	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		13	27	1	0	0.00136819	0.00151496	13	27				
SLC36A2	153201	broad.mit.edu	37	5	150696552	150696552	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:150696552C>T	ENST00000335244.4	-	10	1407	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L	SLC36A2_ENST00000450886.1_Silent_p.L150L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	426					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TGGTGACCTCCAGGAGCGGTG	0.647																																						uc003lty.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1276-1278)CTG>CTA		solute carrier family 36, member 2							67.0	57.0	61.0					5																	150696552		2203	4299	6502	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150696552C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1278G>A	5.37:g.150696552C>T						GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Silent_p.L228L	p.L426L	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1408	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	426			Cytoplasmic (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.1278G>A	CCDS4315.1																																																																																				0.647	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			9	17	0	0	0	0	9	17				
NSD1	64324	broad.mit.edu	37	5	176709508	176709508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr5:176709508G>T	ENST00000439151.2	+	19	5980	c.5935G>T	c.(5935-5937)Gaa>Taa	p.E1979*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1710*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1876*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1710*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1979	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TATAGATGAAGAAGAATGCAG	0.378			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(5935-5937)GAA>TAA		nuclear receptor binding SET domain protein 1							213.0	211.0	212.0					5																	176709508		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176709508G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5935G>T	5.37:g.176709508G>T	ENSP00000395929:p.Glu1979*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.E1710*|NSD1_uc011dfx.1_Nonsense_Mutation_p.E1627*	p.E1979*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	19	6073	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1979			SET.		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.5935G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	46	12.466302	0.99670	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	.	.	.	X	1710;1979;1710;1876	.	ENSP00000343209:E1710X	E	+	1	0	NSD1	176642114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.884000	0.98904	0.655000	0.94253	GAA		0.378	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		33	65	1	0	5.92e-21	8.63e-21	33	65				
NRN1	51299	broad.mit.edu	37	6	5999396	5999396	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:5999396G>T	ENST00000244766.2	-	3	459	c.242C>A	c.(241-243)aCg>aAg	p.T81K	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	81					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CTGGCAATCCGTAAGGGCTGT	0.517																																						uc003mwu.2		NA																	0					0						c.(241-243)ACG>AAG		neuritin precursor							82.0	72.0	76.0					6																	5999396		2203	4300	6503	SO:0001583	missense	51299					anchored to membrane|plasma membrane		g.chr6:5999396G>T	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.242C>A	6.37:g.5999396G>T	ENSP00000244766:p.Thr81Lys					NRN1_uc003mwt.2_Missense_Mutation_p.T107K	p.T81K	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	3	893	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	81					B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	c.242C>A	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568193	0.45798	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.12	4.12	0.48240	.	0.183922	0.47852	D	0.000217	T	0.32852	0.0843	L	0.29908	0.895	0.42188	D	0.991711	P	0.37176	0.586	B	0.34385	0.181	T	0.41016	-0.9532	9	0.49607	T	0.09	.	16.2224	0.82265	0.0:0.0:1.0:0.0	.	81	Q9NPD7	NRN1_HUMAN	K	81	.	ENSP00000244766:T81K	T	-	2	0	NRN1	5944395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.120000	0.77153	2.217000	0.71921	0.563000	0.77884	ACG		0.517	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			12	57	1	0	7.93e-07	9.68e-07	12	57				
PHACTR1	221692	broad.mit.edu	37	6	13053694	13053694	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:13053694G>A	ENST00000379350.1	+	4	477	c.348G>A	c.(346-348)ctG>ctA	p.L116L	PHACTR1_ENST00000457702.2_5'UTR|PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000379345.2_5'UTR|PHACTR1_ENST00000332995.7_Silent_p.L116L			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	116					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TTGCCAACCTGGGAAGGATTT	0.507																																						uc010jpc.2		NA																	0					0						c.(346-348)CTG>CTA		phosphatase and actin regulator 1							50.0	49.0	49.0					6																	13053694		1945	4142	6087	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13053694G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.348G>A	6.37:g.13053694G>A						PHACTR1_uc011dir.1_Silent_p.L116L|PHACTR1_uc003nag.1_Silent_p.L116L|PHACTR1_uc003nah.1_Silent_p.L116L	p.L116L	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	680	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	116					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37	c.348G>A		.	.	.	.	.	.	.	.	.	.	G	9.939	1.216954	0.22373	.	.	ENSG00000112137	ENST00000406205	.	.	.	5.84	4.07	0.47477	.	.	.	.	.	T	0.29716	0.0742	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	-9.6656	2.0665	0.03604	0.2214:0.1345:0.5049:0.1391	.	.	.	.	R	152	.	.	G	+	1	0	PHACTR1	13161680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.222000	0.32515	0.829000	0.34733	0.609000	0.83330	GGG		0.507	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		8	25	0	0	0	0	8	25				
JARID2	3720	broad.mit.edu	37	6	15497018	15497018	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:15497018C>G	ENST00000341776.2	+	7	1806	c.1562C>G	c.(1561-1563)tCc>tGc	p.S521C	JARID2_ENST00000397311.3_Missense_Mutation_p.S349C|JARID2_ENST00000541660.1_Missense_Mutation_p.S483C	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	521					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GACAGCGCCTCCTGTGAAAAT	0.677																																						uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(1561-1563)TCC>TGC		jumonji, AT rich interactive domain 2 protein							31.0	36.0	34.0					6																	15497018		2203	4299	6502	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15497018C>G	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1562C>G	6.37:g.15497018C>G	ENSP00000341280:p.Ser521Cys					JARID2_uc011diu.1_Missense_Mutation_p.S385C|JARID2_uc011div.1_Missense_Mutation_p.S349C|JARID2_uc011diw.1_Missense_Mutation_p.S483C	p.S521C	NM_004973	NP_004964	Q92833	JARD2_HUMAN			7	1806	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	521					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.1562C>G	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258150	0.39896	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89746	-1.93;-1.93;-2.56	5.4	4.54	0.55810	.	0.530435	0.20061	N	0.100100	T	0.74951	0.3784	N	0.24115	0.695	0.26820	N	0.968813	P;P;B	0.49253	0.921;0.896;0.412	B;P;B	0.46479	0.416;0.518;0.103	T	0.69292	-0.5183	10	0.46703	T	0.11	-0.135	9.7152	0.40270	0.0:0.7854:0.1404:0.0742	.	483;385;521	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	C	385;521;349;483	ENSP00000341280:S521C;ENSP00000380478:S349C;ENSP00000444623:S483C	ENSP00000341280:S521C	S	+	2	0	JARID2	15604997	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.523000	0.45580	1.278000	0.44430	0.561000	0.74099	TCC		0.677	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		13	41	0	0	0	0	13	41				
HIST1H3C	8352	broad.mit.edu	37	6	26045742	26045742	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:26045742G>T	ENST00000540144.1	+	1	104	c.104G>T	c.(103-105)gGc>gTc	p.G35V	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	35					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCCACCGGTGGCGTGAAGAAA	0.627																																						uc003nfv.2		NA																	0				ovary(1)	1						c.(103-105)GGC>GTC		histone cluster 1, H3c							42.0	45.0	44.0					6																	26045742		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045742G>T	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.104G>T	6.37:g.26045742G>T	ENSP00000439493:p.Gly35Val					HIST1H2BB_uc003nfu.2_5'Flank	p.G35V	NM_003531	NP_003522	P68431	H31_HUMAN			1	104	+			35					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.104G>T	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274757	0.40194	.	.	ENSG00000196532	ENST00000540144	T	0.46819	0.86	4.67	4.67	0.58626	.	.	.	.	.	T	0.59770	0.2218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65249	-0.6214	6	0.87932	D	0	.	17.4292	0.87534	0.0:0.0:1.0:0.0	.	.	.	.	V	35	ENSP00000439493:G35V	ENSP00000439493:G35V	G	+	2	0	HIST1H3C	26153721	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	9.492000	0.97957	2.529000	0.85273	0.591000	0.81541	GGC		0.627	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		15	66	1	0	0.000219431	0.000250292	15	66				
HIST1H3C	8352	broad.mit.edu	37	6	26046019	26046019	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:26046019G>T	ENST00000540144.1	+	1	381	c.381G>T	c.(379-381)ctG>ctT	p.L127L	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	127					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						ATATCCAGCTGGCACGTCGCA	0.502																																						uc003nfv.2		NA																	0				ovary(1)	1						c.(379-381)CTG>CTT		histone cluster 1, H3c							78.0	62.0	67.0					6																	26046019		2203	4300	6503	SO:0001819	synonymous_variant	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26046019G>T	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.381G>T	6.37:g.26046019G>T						HIST1H2BB_uc003nfu.2_5'Flank	p.L127L	NM_003531	NP_003522	P68431	H31_HUMAN			1	381	+			127					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000540144.1	37	c.381G>T	CCDS4576.1																																																																																				0.502	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		22	47	1	0	1.23e-08	1.57e-08	22	47				
HIST1H4K	8362	broad.mit.edu	37	6	27799255	27799255	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:27799255C>A	ENST00000357549.2	-	1	50	c.51G>T	c.(49-51)aaG>aaT	p.K17N		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	17					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						TACGGTGGCGCTTAGCGCCGC	0.642																																						uc003njr.2		NA																	0					0						c.(49-51)AAG>AAT		histone cluster 1, H4k							7.0	10.0	9.0					6																	27799255		1953	3867	5820	SO:0001583	missense	8362				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27799255C>A	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.51G>T	6.37:g.27799255C>A	ENSP00000350159:p.Lys17Asn						p.K17N	NM_003541	NP_003532	P62805	H4_HUMAN			1	51	-			17					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	c.51G>T	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.892256	0.33442	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.05	2.19	0.27852	.	0.000000	0.56097	U	0.000038	T	0.44787	0.1310	.	.	.	0.34058	D	0.656957	.	.	.	.	.	.	T	0.50276	-0.8847	6	0.87932	D	0	.	9.0553	0.36401	0.0:0.8143:0.0:0.1857	.	.	.	.	N	17	.	ENSP00000350159:K17N	K	-	3	2	HIST1H4K	27907234	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	2.723000	0.47277	0.816000	0.34421	0.644000	0.83932	AAG		0.642	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		11	107	1	0	6.45e-10	8.49e-10	11	107				
COL11A2	1302	broad.mit.edu	37	6	33133582	33133582	+	Silent	SNP	G	G	T	rs576235181		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:33133582G>T	ENST00000374708.4	-	61	4494	c.4236C>A	c.(4234-4236)ggC>ggA	p.G1412G	COL11A2_ENST00000357486.1_Silent_p.G1477G|COL11A2_ENST00000395197.1_Silent_p.G1438G|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374714.1_Silent_p.G1472G|COL11A2_ENST00000341947.2_Silent_p.G1498G|COL11A2_ENST00000374712.1_Silent_p.G1417G|COL11A2_ENST00000374713.1_Silent_p.G1451G|COL11A2_ENST00000361917.1_Silent_p.G1391G	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1498	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGATCACCTCGCCTGGGGGAC	0.627																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.(4492-4494)GGC>GGA		collagen, type XI, alpha 2 isoform 1							48.0	49.0	49.0					6																	33133582		2203	4300	6503	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33133582G>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4236C>A	6.37:g.33133582G>T						COL11A2_uc010jul.1_Silent_p.G68G|COL11A2_uc003ocy.1_Silent_p.G1412G|COL11A2_uc003ocz.1_Silent_p.G1391G	p.G1498G	NM_080680	NP_542411	P13942	COBA2_HUMAN			63	4722	-			1498			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.4494C>A	CCDS43452.1																																																																																				0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			17	69	1	0	6.94e-10	9.11e-10	17	69				
DNAH8	1769	broad.mit.edu	37	6	38867649	38867649	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:38867649C>A	ENST00000359357.3	+	60	8764	c.8510C>A	c.(8509-8511)gCt>gAt	p.A2837D	DNAH8_ENST00000441566.1_Missense_Mutation_p.A2801D|DNAH8_ENST00000449981.2_Missense_Mutation_p.A3054D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2837	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						TCTTTTATTGCTGGCTATCAA	0.343																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(8509-8511)GCT>GAT		dynein, axonemal, heavy polypeptide 8							115.0	108.0	110.0					6																	38867649		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38867649C>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.8510C>A	6.37:g.38867649C>A	ENSP00000352312:p.Ala2837Asp						p.A2837D	NM_001371	NP_001362					60	9110	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.8510C>A		.	.	.	.	.	.	.	.	.	.	C	35	5.440752	0.96168	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.42131	0.98;0.98;0.98	6.17	6.17	0.99709	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.79764	0.4502	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87126	0.2194	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2837	Q96JB1	DYH8_HUMAN	D	3042;3042;2837;2801	ENSP00000333363:A3042D;ENSP00000352312:A2837D;ENSP00000402294:A2801D	ENSP00000333363:A3042D	A	+	2	0	DNAH8	38975627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	GCT		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	18	1	0	2.56e-06	3.08e-06	4	18				
LRFN2	57497	broad.mit.edu	37	6	40400710	40400710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:40400710G>A	ENST00000338305.6	-	2	685	c.143C>T	c.(142-144)cCt>cTt	p.P48L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	48	LRRNT.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCAATATCAGGGGGTACAAA	0.612																																						uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(142-144)CCT>CTT		leucine rich repeat and fibronectin type III							46.0	52.0	50.0					6																	40400710		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400710G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.143C>T	6.37:g.40400710G>A	ENSP00000345985:p.Pro48Leu						p.P48L	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	608	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		48			LRRNT.|Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.143C>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604305	0.28534	.	.	ENSG00000156564	ENST00000338305	T	0.02369	4.32	5.52	5.52	0.82312	Leucine-rich repeat-containing N-terminal (1);	0.273246	0.42548	D	0.000696	T	0.01800	0.0057	M	0.65975	2.015	0.22562	N	0.998987	B	0.14438	0.01	B	0.15484	0.013	T	0.31280	-0.9949	10	0.59425	D	0.04	.	8.5969	0.33721	0.1619:0.0:0.8381:0.0	.	48	Q9ULH4	LRFN2_HUMAN	L	48	ENSP00000345985:P48L	ENSP00000345985:P48L	P	-	2	0	LRFN2	40508688	0.973000	0.33851	0.984000	0.44739	0.914000	0.54420	2.192000	0.42649	2.620000	0.88729	0.655000	0.94253	CCT		0.612	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		17	54	0	0	0	0	17	54				
ENPP5	59084	broad.mit.edu	37	6	46135435	46135435	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:46135435C>A	ENST00000371383.2	-	3	825	c.565G>T	c.(565-567)Gac>Tac	p.D189Y	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.D189Y					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TCATCAGGGTCTTCCCAATAG	0.418																																						uc003oxz.1		NA																	0					0						c.(565-567)GAC>TAC		ectonucleotide pyrophosphatase/phosphodiesterase							60.0	62.0	61.0					6																	46135435		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135435C>A	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.565G>T	6.37:g.46135435C>A	ENSP00000360436:p.Asp189Tyr					ENPP5_uc003oya.1_Missense_Mutation_p.D189Y|ENPP5_uc011dvz.1_Missense_Mutation_p.D95Y|ENPP5_uc010jzc.1_Missense_Mutation_p.D189Y	p.D189Y	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN			2	773	-			189						Missense_Mutation	SNP	ENST00000371383.2	37	c.565G>T	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097846	0.76870	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.73897	-0.79;-0.79	5.32	5.32	0.75619	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.282266	0.39210	N	0.001422	T	0.80105	0.4562	M	0.65677	2.01	0.42842	D	0.994052	P;P	0.51933	0.949;0.949	P;P	0.59171	0.853;0.793	T	0.82252	-0.0549	10	0.87932	D	0	-6.0375	16.4001	0.83637	0.0:0.8688:0.1312:0.0	.	189;189	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	Y	189	ENSP00000360436:D189Y;ENSP00000230565:D189Y	ENSP00000230565:D189Y	D	-	1	0	ENPP5	46243394	1.000000	0.71417	0.969000	0.41365	0.985000	0.73830	3.916000	0.56416	2.648000	0.89879	0.650000	0.86243	GAC		0.418	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			27	61	1	0	3.67e-16	5.21e-16	27	61				
RCAN2	10231	broad.mit.edu	37	6	46214500	46214500	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:46214500C>T	ENST00000330430.6	-	3	606	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	RCAN2_ENST00000405162.1_Missense_Mutation_p.A186T|RCAN2_ENST00000306764.7_Missense_Mutation_p.A186T|RCAN2_ENST00000371374.1_Missense_Mutation_p.A186T	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	140					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCTAGTTTGGCCACAGCATAG	0.493																																						uc003oyb.1		NA																	0					0						c.(418-420)GCC>ACC		Down syndrome critical region gene 1-like 1							50.0	52.0	51.0					6																	46214500		1947	4148	6095	SO:0001583	missense	10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46214500C>T	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.418G>A	6.37:g.46214500C>T	ENSP00000329454:p.Ala140Thr					RCAN2_uc003oyc.1_Missense_Mutation_p.A186T|RCAN2_uc003oyd.1_Missense_Mutation_p.A186T	p.A140T	NM_005822	NP_005813	Q14206	RCAN2_HUMAN			3	733	-			140					A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	ENST00000330430.6	37	c.418G>A	CCDS43469.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815885	0.90790	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.7	5.7	0.88788	.	0.058063	0.64402	D	0.000003	T	0.66867	0.2833	M	0.82923	2.615	0.80722	D	1	P;B	0.37985	0.613;0.338	P;B	0.46419	0.516;0.19	T	0.72613	-0.4240	9	0.87932	D	0	-19.3272	14.3264	0.66523	0.1576:0.8424:0.0:0.0	.	186;140	Q14206-2;Q14206	.;RCAN2_HUMAN	T	140;186;186;186	.	ENSP00000305223:A186T	A	-	1	0	RCAN2	46322459	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.844000	0.69430	2.703000	0.92315	0.585000	0.79938	GCC		0.493	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1			8	31	0	0	0	0	8	31				
GPR111	222611	broad.mit.edu	37	6	47649740	47649740	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:47649740A>G	ENST00000296862.1	+	6	1445	c.1445A>G	c.(1444-1446)tAt>tGt	p.Y482C	GPR111_ENST00000507065.1_Missense_Mutation_p.Y414C|GPR111_ENST00000398742.2_Missense_Mutation_p.Y414C			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	482					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAGATCACCTATTTACGCCAT	0.463																																						uc010jzj.1		NA																	0				skin(1)	1						c.(1444-1446)TAT>TGT		G-protein coupled receptor 111							118.0	109.0	112.0					6																	47649740		2039	4210	6249	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649740A>G	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1445A>G	6.37:g.47649740A>G	ENSP00000296862:p.Tyr482Cys					GPR111_uc010jzk.1_Missense_Mutation_p.Y414C|GPR111_uc003oyy.2_RNA	p.Y482C	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	1446	+			482			Cytoplasmic (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1445A>G		.	.	.	.	.	.	.	.	.	.	A	13.60	2.285392	0.40394	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.36520	1.25;1.25;1.25	5.52	5.52	0.82312	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000024	T	0.59609	0.2206	M	0.88775	2.98	0.42091	D	0.991299	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69665	-0.5084	10	0.87932	D	0	.	14.8104	0.69992	1.0:0.0:0.0:0.0	.	414;482	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	C	414;482;414	ENSP00000422934:Y414C;ENSP00000296862:Y482C;ENSP00000381727:Y414C	ENSP00000296862:Y482C	Y	+	2	0	GPR111	47757699	1.000000	0.71417	0.996000	0.52242	0.318000	0.28184	5.140000	0.64807	2.094000	0.63399	0.533000	0.62120	TAT		0.463	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		15	60	0	0	0	0	15	60				
DST	667	broad.mit.edu	37	6	56489356	56489356	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:56489356T>C	ENST00000361203.3	-	32	4275	c.4268A>G	c.(4267-4269)gAt>gGt	p.D1423G	DST_ENST00000370754.5_Missense_Mutation_p.D1601G|DST_ENST00000370769.4_Missense_Mutation_p.D1423G|DST_ENST00000244364.6_Missense_Mutation_p.D1097G|DST_ENST00000370765.6_Missense_Mutation_p.D1097G|DST_ENST00000446842.2_Missense_Mutation_p.D1097G|DST_ENST00000421834.2_Missense_Mutation_p.D1423G|DST_ENST00000518935.1_Missense_Mutation_p.D1097G|DST_ENST00000370788.2_Missense_Mutation_p.D1423G|DST_ENST00000312431.6_Missense_Mutation_p.D1423G			Q03001	DYST_HUMAN	dystonin	1423					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTCAATGAATCACCAGCAAA	0.393																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4801-4803)GAT>GGT		dystonin isoform 2							82.0	77.0	79.0					6																	56489356		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56489356T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4268A>G	6.37:g.56489356T>C	ENSP00000354508:p.Asp1423Gly					DST_uc003pcz.3_Missense_Mutation_p.D1423G|DST_uc011dxj.1_Missense_Mutation_p.D1452G|DST_uc011dxk.1_Missense_Mutation_p.D1463G|DST_uc003pcy.3_Missense_Mutation_p.D1097G|DST_uc003pdb.2_Missense_Mutation_p.D1097G|DST_uc003pdc.3_Missense_Mutation_p.D1097G|DST_uc003pdd.3_Missense_Mutation_p.D1097G	p.D1601G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		35	4830	-	Lung NSC(77;0.103)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4802A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.36|19.36	3.812249|3.812249	0.70912|0.70912	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935|ENST00000522360	T;T;T;T;T;T;T;T;T;T;T;T|.	0.27402|.	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.56097|.	D|.	0.000028|.	T|T	0.58409|0.58409	0.2120|0.2120	M|M	0.64404|0.64404	1.975|1.975	0.18873|.	N|.	0.999983|.	P;D;D;D;D;D;P;D|.	0.89917|.	0.849;0.995;0.979;0.958;0.997;1.0;0.849;1.0|.	B;P;P;P;D;D;B;D|.	0.80764|.	0.321;0.746;0.549;0.665;0.96;0.994;0.321;0.99|.	T|T	0.60662|0.60662	-0.7219|-0.7219	9|4	0.52906|.	T|.	0.07|.	.|.	15.1167|15.1167	0.72407|0.72407	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1423;1423;1601;1097;1097;1097;1423;1097|.	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8|.	.;.;.;.;.;.;DYST_HUMAN;.|.	G|V	1097;1601;1423;1423;1097;1423;1423;1423;1097;1463;1097;1097|95	ENSP00000244364:D1097G;ENSP00000359790:D1601G;ENSP00000359805:D1423G;ENSP00000400883:D1423G;ENSP00000393645:D1097G;ENSP00000307959:D1423G;ENSP00000359824:D1423G;ENSP00000354508:D1423G;ENSP00000404924:D1097G;ENSP00000431030:D1463G;ENSP00000359801:D1097G;ENSP00000431003:D1097G|.	ENSP00000244364:D1097G|.	D|I	-|-	2|1	0|0	DST|DST	56597315|56597315	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.995000|0.995000	0.86356|0.86356	7.997000|7.997000	0.88414|0.88414	2.222000|2.222000	0.72286|0.72286	0.528000|0.528000	0.53228|0.53228	GAT|ATT		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		8	35	0	0	0	0	8	35				
PRIM2	5558	broad.mit.edu	37	6	57512689	57512689	+	3'UTR	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:57512689G>T	ENST00000389488.2	+	0	1604				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GATTACTTTAGTGAAGATTCT	0.398																																						uc003pdx.2		NA																	0					0						c.(1516-1518)AGT>ATT		DNA primase polypeptide 2							317.0	311.0	313.0					6																	57512689		1931	4140	6071	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512689G>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1601G>T	6.37:g.57512689G>T							p.S506I	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1604	+			506					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1517G>T																																																																																					0.398	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		39	278	1	0	4.07e-28	6.06e-28	39	278				
COL9A1	1297	broad.mit.edu	37	6	70952405	70952405	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:70952405T>A	ENST00000357250.6	-	29	2044	c.1886A>T	c.(1885-1887)gAa>gTa	p.E629V	COL9A1_ENST00000370499.4_Missense_Mutation_p.E386V|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.E386V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	629	Collagen-like 6.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGTCCTAATTCTCCTCTACT	0.348																																						uc003pfg.3		NA																	0				ovary(4)	4						c.(1885-1887)GAA>GTA		alpha 1 type IX collagen isoform 1 precursor							127.0	121.0	123.0					6																	70952405		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70952405T>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1886A>T	6.37:g.70952405T>A	ENSP00000349790:p.Glu629Val					COL9A1_uc003pfe.3_Missense_Mutation_p.E202V|COL9A1_uc003pff.3_Missense_Mutation_p.E386V	p.E629V	NM_001851	NP_001842	P20849	CO9A1_HUMAN			29	2045	-			629			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1886A>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	T	9.117	1.008067	0.19199	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.94232	-3.38;-3.38;-3.38	6.06	3.62	0.41486	.	0.235608	0.48767	N	0.000174	D	0.84023	0.5381	L	0.52905	1.665	0.28298	N	0.923236	B;B;B	0.21381	0.055;0.016;0.004	B;B;B	0.25987	0.065;0.009;0.008	T	0.75739	-0.3212	10	0.44086	T	0.13	.	8.6428	0.33987	0.125:0.0:0.1388:0.7362	.	629;386;202	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	V	629;386;386	ENSP00000349790:E629V;ENSP00000315252:E386V;ENSP00000359530:E386V	ENSP00000315252:E386V	E	-	2	0	COL9A1	71009126	0.878000	0.30173	0.042000	0.18584	0.023000	0.10783	2.871000	0.48459	0.504000	0.28082	0.533000	0.62120	GAA		0.348	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			21	48	0	0	0	0	21	48				
FILIP1	27145	broad.mit.edu	37	6	76023776	76023776	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:76023776C>T	ENST00000237172.7	-	5	2102	c.1772G>A	c.(1771-1773)tGc>tAc	p.C591Y	FILIP1_ENST00000393004.2_Missense_Mutation_p.C591Y|FILIP1_ENST00000370020.1_Missense_Mutation_p.C492Y|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	591										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCAACACTGCAGCTTAATTC	0.388																																						uc003pia.2		NA																	0				skin(3)|ovary(1)	4						c.(1771-1773)TGC>TAC		filamin A interacting protein 1							169.0	171.0	170.0					6																	76023776		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023776C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1772G>A	6.37:g.76023776C>T	ENSP00000237172:p.Cys591Tyr					FILIP1_uc003phy.1_Missense_Mutation_p.C591Y|FILIP1_uc003phz.2_Missense_Mutation_p.C492Y|FILIP1_uc010kbe.2_Missense_Mutation_p.C594Y|FILIP1_uc003pib.1_Missense_Mutation_p.C343Y	p.C591Y	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2145	-			591			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1772G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257154	0.39896	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17854	2.25;2.25;2.25	6.11	6.11	0.99139	.	0.195657	0.56097	D	0.000023	T	0.21718	0.0523	L	0.47716	1.5	0.38214	D	0.940563	D;D;D	0.60575	0.981;0.98;0.988	B;P;P	0.52554	0.374;0.507;0.702	T	0.00290	-1.1843	10	0.62326	D	0.03	-5.1225	20.7342	0.99715	0.0:1.0:0.0:0.0	.	591;591;591	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Y	591;591;492	ENSP00000376728:C591Y;ENSP00000237172:C591Y;ENSP00000359037:C492Y	ENSP00000237172:C591Y	C	-	2	0	FILIP1	76080496	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.884000	0.39668	2.906000	0.99361	0.655000	0.94253	TGC		0.388	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		37	119	0	0	0	0	37	119				
SNX14	57231	broad.mit.edu	37	6	86256905	86256905	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:86256905C>T	ENST00000314673.3	-	12	1209	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.D293N|SNX14_ENST00000346348.3_Missense_Mutation_p.D301N|SNX14_ENST00000369627.2_Missense_Mutation_p.D345N|SNX14_ENST00000513865.1_Missense_Mutation_p.D345N	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	345	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AATAAAAGATCTTGTTGCTCT	0.343																																						uc003pkr.2		NA																	0					0						c.(1033-1035)GAT>AAT		sorting nexin 14 isoform a							95.0	84.0	88.0					6																	86256905		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86256905C>T	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1033G>A	6.37:g.86256905C>T	ENSP00000313121:p.Asp345Asn					SNX14_uc003pkp.2_Missense_Mutation_p.D208N|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.D293N|SNX14_uc003pks.2_Missense_Mutation_p.D301N|SNX14_uc003pkt.2_Missense_Mutation_p.D345N	p.D345N	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	12	1226	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	345			RGS.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.1033G>A	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145385	0.94603	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.01933	4.55;4.55;4.55;4.55;4.55;4.55	5.39	5.39	0.77823	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.05960	0.0155	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.71674	0.983;0.996;0.998;0.983	P;D;D;P	0.72075	0.894;0.921;0.976;0.846	T	0.55842	-0.8077	10	0.20046	T	0.44	-19.4241	19.1711	0.93578	0.0:1.0:0.0:0.0	.	345;301;345;293	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	N	301;345;345;293;345;272	ENSP00000257769:D301N;ENSP00000313121:D345N;ENSP00000420938:D345N;ENSP00000427380:D293N;ENSP00000358641:D345N;ENSP00000425630:D272N	ENSP00000313121:D345N	D	-	1	0	SNX14	86313624	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.280000	0.78610	2.525000	0.85131	0.655000	0.94253	GAT		0.343	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		6	12	0	0	0	0	6	12				
MDN1	23195	broad.mit.edu	37	6	90382061	90382061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:90382061G>C	ENST00000369393.3	-	82	13767	c.13652C>G	c.(13651-13653)tCa>tGa	p.S4551*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.S4551*|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'UTR			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4551					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAGATGTCCTGATTGCAGTCT	0.413																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(13651-13653)TCA>TGA		MDN1, midasin homolog							104.0	97.0	99.0					6																	90382061		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90382061G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13652C>G	6.37:g.90382061G>C	ENSP00000358400:p.Ser4551*						p.S4551*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	82	13768	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4551					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.13652C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	55	23.487731	0.99955	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	6.06	2.27	0.28462	.	0.967469	0.08522	N	0.933254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	5.1621	0.15066	0.1964:0.0:0.554:0.2496	.	.	.	.	X	4551	.	ENSP00000358400:S4551X	S	-	2	0	MDN1	90438782	0.000000	0.05858	0.064000	0.19789	0.918000	0.54935	0.771000	0.26633	0.427000	0.26145	0.655000	0.94253	TCA		0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			13	50	0	0	0	0	13	50				
BACH2	60468	broad.mit.edu	37	6	90718382	90718382	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:90718382T>C	ENST00000257749.4	-	6	889	c.182A>G	c.(181-183)tAt>tGt	p.Y61C	BACH2_ENST00000343122.3_Missense_Mutation_p.Y61C|BACH2_ENST00000537989.1_Missense_Mutation_p.Y61C	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTGCCAAAAATATTCACTGCA	0.478																																						uc011eab.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(181-183)TAT>TGT		BTB and CNC homology 1, basic leucine zipper							77.0	80.0	79.0					6																	90718382		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90718382T>C	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.182A>G	6.37:g.90718382T>C	ENSP00000257749:p.Tyr61Cys					BACH2_uc003pnw.2_Missense_Mutation_p.Y61C|BACH2_uc010kch.2_Missense_Mutation_p.Y61C	p.Y61C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	6	991	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	61			BTB.		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.182A>G	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333258	0.81801	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.33	5.33	0.75918	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.061264	0.64402	D	0.000002	D	0.91222	0.7234	H	0.99312	4.51	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94859	0.8020	10	0.87932	D	0	-7.0934	15.3028	0.73966	0.0:0.0:0.0:1.0	.	61	Q9BYV9	BACH2_HUMAN	C	61	ENSP00000257749:Y61C;ENSP00000437473:Y61C;ENSP00000345642:Y61C;ENSP00000384145:Y61C;ENSP00000397668:Y61C	ENSP00000257749:Y61C	Y	-	2	0	BACH2	90775103	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.625000	0.83145	2.029000	0.59856	0.482000	0.46254	TAT		0.478	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		34	59	0	0	0	0	34	59				
MANEA	79694	broad.mit.edu	37	6	96053988	96053988	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:96053988C>A	ENST00000358812.4	+	5	1230	c.1096C>A	c.(1096-1098)Cgt>Agt	p.R366S		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	366	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.R366C(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TACCAGCATCCGTCCATGGAA	0.418																																						uc003poo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1096-1098)CGT>AGT		mannosidase, endo-alpha							98.0	107.0	104.0					6																	96053988		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053988C>A	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1096C>A	6.37:g.96053988C>A	ENSP00000351669:p.Arg366Ser						p.R366S	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1236	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	366			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1096C>A	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137985	0.94517	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83335	0.5232	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.81820	-0.0757	9	0.38643	T	0.18	-18.198	19.8676	0.96824	0.0:1.0:0.0:0.0	.	366	Q5SRI9	MANEA_HUMAN	S	366	.	ENSP00000351669:R366S	R	+	1	0	MANEA	96160709	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.341000	0.59335	2.941000	0.99782	0.655000	0.94253	CGT		0.418	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		17	77	1	0	7.88e-14	1.09e-13	17	77				
GPR63	81491	broad.mit.edu	37	6	97247474	97247474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:97247474C>T	ENST00000229955.3	-	2	479	c.134G>A	c.(133-135)aGa>aAa	p.R45K	GPR63_ENST00000417980.1_Missense_Mutation_p.R45K	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAAACTATATCTAAGCAATGG	0.453																																						uc010kcl.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(133-135)AGA>AAA		G protein-coupled receptor 63							111.0	105.0	107.0					6																	97247474		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247474C>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.134G>A	6.37:g.97247474C>T	ENSP00000229955:p.Arg45Lys					GPR63_uc003pou.2_Missense_Mutation_p.R45K	p.R45K	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	612	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	45			Extracellular (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.134G>A	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	3.772	-0.047462	0.07407	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.59502	0.26;0.26;0.26	5.15	4.28	0.50868	.	0.105272	0.38217	N	0.001778	T	0.17492	0.0420	N	0.14661	0.345	0.29111	N	0.880876	B	0.02656	0.0	B	0.01281	0.0	T	0.11421	-1.0588	10	0.17369	T	0.5	0.9904	10.7097	0.45975	0.0:0.7955:0.0:0.2045	.	45	Q9BZJ6	GPR63_HUMAN	K	69;45;45;45	ENSP00000393170:R45K;ENSP00000229955:R45K;ENSP00000358273:R45K	ENSP00000229955:R45K	R	-	2	0	GPR63	97354195	0.034000	0.19679	0.999000	0.59377	0.158000	0.22134	0.838000	0.27572	1.314000	0.45095	-0.145000	0.13849	AGA		0.453	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			10	55	0	0	0	0	10	55				
ASCC3	10973	broad.mit.edu	37	6	101037825	101037825	+	Splice_Site	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:101037825T>A	ENST00000369162.2	-	35	5758	c.5414A>T	c.(5413-5415)gAg>gTg	p.E1805V		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1805					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAGTCATACCTCTCCAATTTC	0.343																																						uc003pqk.2		NA																	0				ovary(5)|skin(1)	6						c.(5413-5415)GAG>GTG		activating signal cointegrator 1 complex subunit							70.0	68.0	69.0					6																	101037825		2203	4300	6503	SO:0001630	splice_region_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101037825T>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5415+1A>T	6.37:g.101037825T>A							p.E1805V	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	35	5743	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1805					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5414A>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260512	0.80246	.	.	ENSG00000112249	ENST00000369162	T	0.44881	0.91	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	M	0.88310	2.945	0.80722	D	1	D	0.62365	0.991	D	0.64042	0.921	T	0.71341	-0.4622	10	0.72032	D	0.01	.	15.4878	0.75582	0.0:0.0:0.0:1.0	.	1805	Q8N3C0	HELC1_HUMAN	V	1805	ENSP00000358159:E1805V	ENSP00000358159:E1805V	E	-	2	0	ASCC3	101144546	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.156000	0.77453	2.069000	0.61940	0.472000	0.43445	GAG		0.343	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	Missense_Mutation	9	29	0	0	0	0	9	29				
ASCC3	10973	broad.mit.edu	37	6	101296082	101296082	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:101296082C>G	ENST00000369162.2	-	4	1087	c.743G>C	c.(742-744)tGc>tCc	p.C248S	ASCC3_ENST00000522650.1_Missense_Mutation_p.C248S	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	248					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAAAGTACAGCAAAGATCTTC	0.318																																						uc003pqk.2		NA																	0				ovary(5)|skin(1)	6						c.(742-744)TGC>TCC		activating signal cointegrator 1 complex subunit							73.0	75.0	74.0					6																	101296082		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101296082C>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.743G>C	6.37:g.101296082C>G	ENSP00000358159:p.Cys248Ser					ASCC3_uc011eai.1_Missense_Mutation_p.C150S|ASCC3_uc003pql.2_Missense_Mutation_p.C248S|ASCC3_uc010kcv.2_Missense_Mutation_p.C248S	p.C248S	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	4	1072	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	248					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.743G>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205950	0.39003	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.57273	0.53;0.41	5.76	5.76	0.90799	.	0.107347	0.64402	D	0.000003	T	0.34135	0.0887	L	0.48642	1.525	0.80722	D	1	B;B;B	0.32829	0.261;0.386;0.03	B;B;B	0.31495	0.063;0.131;0.004	T	0.19679	-1.0298	10	0.17369	T	0.5	.	19.9658	0.97266	0.0:1.0:0.0:0.0	.	248;248;248	Q4G1A0;E7EW23;Q8N3C0	.;.;HELC1_HUMAN	S	248	ENSP00000358159:C248S;ENSP00000430769:C248S	ENSP00000358159:C248S	C	-	2	0	ASCC3	101402803	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.407000	0.59754	2.721000	0.93114	0.591000	0.81541	TGC		0.318	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		9	50	0	0	0	0	9	50				
POPDC3	64208	broad.mit.edu	37	6	105606590	105606590	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:105606590A>T	ENST00000254765.3	-	4	909	c.631T>A	c.(631-633)Tct>Act	p.S211T	BVES-AS1_ENST00000369120.2_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	211					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CTCCTCCAAGACACATATCGA	0.403																																						uc003prb.2		NA																	0				skin(3)|ovary(2)	5						c.(631-633)TCT>ACT		popeye protein 3							190.0	200.0	196.0					6																	105606590		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105606590A>T	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.631T>A	6.37:g.105606590A>T	ENSP00000254765:p.Ser211Thr					uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	p.S211T	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			4	1033	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	211					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.631T>A	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	A	8.251	0.809025	0.16537	.	.	ENSG00000132429	ENST00000254765;ENST00000429112	T;T	0.31769	1.48;1.48	5.98	3.66	0.41972	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.306672	0.33161	N	0.005212	T	0.05593	0.0147	N	0.16368	0.405	0.32353	N	0.558215	B	0.02656	0.0	B	0.08055	0.003	T	0.29822	-0.9999	10	0.22109	T	0.4	-30.1155	5.1435	0.14971	0.4352:0.2305:0.0:0.3343	.	211	Q9HBV1	POPD3_HUMAN	T	211;57	ENSP00000254765:S211T;ENSP00000414409:S57T	ENSP00000254765:S211T	S	-	1	0	POPDC3	105713283	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.790000	0.38734	1.057000	0.40506	0.477000	0.44152	TCT		0.403	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		61	163	0	0	0	0	61	163				
RTN4IP1	84816	broad.mit.edu	37	6	107070746	107070746	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:107070746C>T	ENST00000369063.3	-	2	838	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	RTN4IP1_ENST00000539449.1_Missense_Mutation_p.G125S	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	125						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ATCACCACGCCAGAGACATCC	0.478																																						uc003prj.2		NA																	0					0						c.(373-375)GGC>AGC		reticulon 4 interacting protein 1 precursor							111.0	99.0	103.0					6																	107070746		2203	4299	6502	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107070746C>T	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.373G>A	6.37:g.107070746C>T	ENSP00000358059:p.Gly125Ser					RTN4IP1_uc010kdd.2_Missense_Mutation_p.G125S|RTN4IP1_uc003prk.2_Missense_Mutation_p.G25S	p.G125S	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	2	850	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	125					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.373G>A	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008521	0.93346	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	D;D	0.88741	-2.42;-2.42	5.73	4.86	0.63082	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.194702	0.53938	D	0.000043	D	0.95360	0.8494	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.96575	0.9426	10	0.87932	D	0	-13.6345	13.6817	0.62489	0.0:0.9246:0.0:0.0754	.	125;125	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	S	125	ENSP00000444261:G125S;ENSP00000358059:G125S	ENSP00000358059:G125S	G	-	1	0	RTN4IP1	107177439	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.113000	0.77095	1.450000	0.47717	0.585000	0.79938	GGC		0.478	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			9	29	0	0	0	0	9	29				
ROS1	6098	broad.mit.edu	37	6	117710810	117710810	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:117710810G>T	ENST00000368508.3	-	12	1660	c.1462C>A	c.(1462-1464)Cat>Aat	p.H488N	ROS1_ENST00000368507.3_Missense_Mutation_p.H497N|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	488					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGATGAGATGGGAAGCAGAG	0.433			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1462-1464)CAT>AAT		proto-oncogene c-ros-1 protein precursor							102.0	82.0	89.0					6																	117710810		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117710810G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1462C>A	6.37:g.117710810G>T	ENSP00000357494:p.His488Asn					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.H488N	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	12	1661	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	488			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1462C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	8.988	0.976980	0.18812	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90955	-2.76;-2.76	5.82	3.71	0.42584	.	0.284900	0.30185	N	0.010209	T	0.75729	0.3889	L	0.29908	0.895	0.80722	D	1	P	0.48764	0.915	B	0.39465	0.3	T	0.76231	-0.3035	10	0.33940	T	0.23	.	11.0121	0.47669	0.1712:0.0:0.8288:0.0	.	488	P08922	ROS1_HUMAN	N	488;497	ENSP00000357494:H488N;ENSP00000357493:H497N	ENSP00000357493:H497N	H	-	1	0	ROS1	117817503	0.945000	0.32115	0.987000	0.45799	0.560000	0.35617	0.982000	0.29539	1.456000	0.47831	0.561000	0.74099	CAT		0.433	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			21	48	1	0	2.55e-18	3.69e-18	21	48				
CEP85L	387119	broad.mit.edu	37	6	118887324	118887324	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:118887324T>A	ENST00000368491.3	-	3	1009	c.388A>T	c.(388-390)Atg>Ttg	p.M130L	CEP85L_ENST00000360290.3_Missense_Mutation_p.M28L|CEP85L_ENST00000392500.3_Missense_Mutation_p.M133L|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000419517.2_Missense_Mutation_p.M130L|CEP85L_ENST00000368488.5_Missense_Mutation_p.M133L	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	130						centrosome (GO:0005813)|cytoplasm (GO:0005737)											AATGTTTGCATGAGGCTTGTA	0.478																																						uc003pxz.1		NA																	0				breast(1)	1						c.(388-390)ATG>TTG		chromosome 6 open reading frame 204 isoform a							113.0	104.0	107.0					6																	118887324		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118887324T>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.388A>T	6.37:g.118887324T>A	ENSP00000357477:p.Met130Leu					C6orf204_uc003pya.1_Missense_Mutation_p.M133L|C6orf204_uc003pyb.2_Missense_Mutation_p.M130L|C6orf204_uc011ebj.1_Missense_Mutation_p.M28L|C6orf204_uc003pyc.2_Missense_Mutation_p.M133L|C6orf204_uc011ebl.1_Missense_Mutation_p.M28L	p.M130L	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	3	976	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	130					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.388A>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	6.340	0.430879	0.12045	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.96	-1.36	0.09085	.	0.704965	0.14491	N	0.316354	T	0.01222	0.0040	N	0.03608	-0.345	0.20489	N	0.999892	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0	T	0.40942	-0.9536	10	0.02654	T	1	-1.7539	1.1085	0.01699	0.4519:0.1417:0.2139:0.1924	.	28;133;130;133;130	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	L	130;133;133;133;28;130	ENSP00000357477:M130L;ENSP00000357474:M133L;ENSP00000392131:M133L;ENSP00000376288:M133L;ENSP00000353434:M28L;ENSP00000393317:M130L	ENSP00000353434:M28L	M	-	1	0	C6orf204	118994017	0.417000	0.25432	0.774000	0.31636	0.746000	0.42486	-0.530000	0.06179	-0.118000	0.11851	0.533000	0.62120	ATG		0.478	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		15	82	0	0	0	0	15	82				
TRDN	10345	broad.mit.edu	37	6	123687329	123687329	+	Splice_Site	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:123687329T>C	ENST00000398178.3	-	20	1295		c.e20-2		TRDN_ENST00000334268.4_Splice_Site	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTTCAGTTTCTGCAAGTTCAG	0.308																																						uc003pzj.1		NA																	0				ovary(1)	1						c.e20-1		triadin							82.0	79.0	80.0					6																	123687329		1822	4083	5905	SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123687329T>C	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1274-2A>G	6.37:g.123687329T>C						TRDN_uc003pzk.1_Splice_Site_p.K426_splice|TRDN_uc003pzl.1_Splice_Site_p.K426_splice|TRDN_uc010kem.1_Splice_Site	p.K425_splice	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	20	1296	-								A5D6W5|F5H2W7|Q6NSB8	Splice_Site	SNP	ENST00000398178.3	37	c.1274_splice	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347401	0.61183	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0076	0.53268	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRDN	123729028	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	3.860000	0.55995	2.326000	0.78906	0.533000	0.62120	.		0.308	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Intron	5	25	0	0	0	0	5	25				
LAMA2	3908	broad.mit.edu	37	6	129380955	129380955	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:129380955G>A	ENST00000421865.2	+	3	359	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	104	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAATGCTATTGATGGAAAGAA	0.358																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(310-312)GAT>AAT		laminin alpha 2 subunit isoform a precursor							119.0	108.0	112.0					6																	129380955		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129380955G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.310G>A	6.37:g.129380955G>A	ENSP00000400365:p.Asp104Asn					LAMA2_uc003qbo.2_Missense_Mutation_p.D104N	p.D104N	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	3	415	+			104			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.310G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773048	0.90108	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.91577	-2.87	5.51	5.51	0.81932	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93481	0.7920	M	0.77486	2.375	0.58432	D	0.999998	D;D	0.56968	0.978;0.978	P;D	0.64042	0.857;0.921	D	0.94055	0.7321	10	0.87932	D	0	.	12.7764	0.57451	0.0752:0.0:0.9248:0.0	.	104;104	A6NF00;P24043	.;LAMA2_HUMAN	N	104	ENSP00000400365:D104N	ENSP00000346769:D104N	D	+	1	0	LAMA2	129422648	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.371000	0.97162	2.611000	0.88343	0.580000	0.79431	GAT		0.358	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			10	23	0	0	0	0	10	23				
TMEM200A	114801	broad.mit.edu	37	6	130762603	130762603	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:130762603C>G	ENST00000296978.3	+	3	1907	c.1036C>G	c.(1036-1038)Cca>Gca	p.P346A	TMEM200A_ENST00000545622.1_Missense_Mutation_p.P346A|TMEM200A_ENST00000392429.1_Missense_Mutation_p.P346A	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	346						integral component of membrane (GO:0016021)		p.P346T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CACAGTGCTACCAAGGAATAA	0.517																																						uc003qca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1036-1038)CCA>GCA		transmembrane protein 200A							84.0	80.0	82.0					6																	130762603		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762603C>G	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1036C>G	6.37:g.130762603C>G	ENSP00000296978:p.Pro346Ala					TMEM200A_uc010kfh.2_Missense_Mutation_p.P346A|TMEM200A_uc010kfi.2_Missense_Mutation_p.P346A|TMEM200A_uc003qcb.2_Missense_Mutation_p.P346A	p.P346A	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1907	+			346			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.1036C>G	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	6.162	0.398151	0.11696	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.06	0.68205	.	0.380247	0.29830	N	0.011099	T	0.27489	0.0675	L	0.27053	0.805	0.37890	D	0.930696	B	0.20261	0.043	B	0.19148	0.024	T	0.11717	-1.0576	9	0.39692	T	0.17	.	9.4557	0.38753	0.1436:0.7853:0.0:0.0712	.	346	Q86VY9	T200A_HUMAN	A	346	.	ENSP00000296978:P346A	P	+	1	0	TMEM200A	130804296	0.949000	0.32298	0.996000	0.52242	0.124000	0.20399	2.826000	0.48104	2.805000	0.96524	0.655000	0.94253	CCA		0.517	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		13	50	0	0	0	0	13	50				
CTGF	1490	broad.mit.edu	37	6	132270617	132270617	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:132270617G>A	ENST00000367976.3	-	5	1037	c.837C>T	c.(835-837)taC>taT	p.Y279Y	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	279	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ATTTAGCTCGGTATGTCTTCA	0.537																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	uc003qcz.2		NA																	0					0						c.(835-837)TAC>TAT		connective tissue growth factor precursor							262.0	260.0	261.0					6																	132270617		2203	4300	6503	SO:0001819	synonymous_variant	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132270617G>A	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.837C>T	6.37:g.132270617G>A							p.Y279Y	NM_001901	NP_001892	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	5	1043	-	Breast(56;0.0602)		279			CTCK.|Heparin-binding.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	ENST00000367976.3	37	c.837C>T	CCDS5151.1																																																																																				0.537	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		83	307	0	0	0	0	83	307				
OLIG3	167826	broad.mit.edu	37	6	137815175	137815175	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:137815175C>T	ENST00000367734.2	-	1	356	c.133G>A	c.(133-135)Ggc>Agc	p.G45S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	45					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ATCATATCGCCCTGCGTGGAC	0.607																																						uc003qhp.1		NA																	0					0						c.(133-135)GGC>AGC		oligodendrocyte transcription factor 3							71.0	74.0	73.0					6																	137815175		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815175C>T	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.133G>A	6.37:g.137815175C>T	ENSP00000356708:p.Gly45Ser						p.G45S	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	357	-	Breast(32;0.165)|Colorectal(23;0.24)		45					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.133G>A	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	1.063	-0.672253	0.03403	.	.	ENSG00000177468	ENST00000367734	D	0.99353	-5.77	5.55	3.79	0.43588	.	0.251864	0.34555	N	0.003865	D	0.87180	0.6113	N	0.01352	-0.895	0.33221	D	0.554734	B	0.02656	0.0	B	0.01281	0.0	T	0.76531	-0.2925	10	0.02654	T	1	-19.4249	9.0155	0.36168	0.0:0.7111:0.0:0.2889	.	45	Q7RTU3	OLIG3_HUMAN	S	45	ENSP00000356708:G45S	ENSP00000356708:G45S	G	-	1	0	OLIG3	137856868	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.878000	0.28126	0.707000	0.31934	-0.218000	0.12543	GGC		0.607	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		31	112	0	0	0	0	31	112				
SYNE1	23345	broad.mit.edu	37	6	152647563	152647563	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:152647563C>A	ENST00000367255.5	-	79	15762	c.15161G>T	c.(15160-15162)aGc>aTc	p.S5054I	SYNE1_ENST00000448038.1_Missense_Mutation_p.S4983I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5054I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4983I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4801I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5054					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTACCAGGCTGTGGAGCTC	0.522										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(15160-15162)AGC>ATC		spectrin repeat containing, nuclear envelope 1							97.0	99.0	98.0					6																	152647563		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647563C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15161G>T	6.37:g.152647563C>A	ENSP00000356224:p.Ser5054Ile	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.S4983I|SYNE1_uc003qou.3_Missense_Mutation_p.S5054I|SYNE1_uc010kiz.2_Missense_Mutation_p.S809I	p.S5054I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	15763	-		Ovarian(120;0.0955)	5054			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15161G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	3.325	-0.137921	0.06711	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.26	5.65	2.57	0.30868	.	0.328690	0.26023	N	0.026805	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.002;0.0;0.0;0.003	B;B;B;B	0.09377	0.004;0.001;0.001;0.004	T	0.32666	-0.9898	10	0.22109	T	0.4	.	4.7498	0.13056	0.2106:0.499:0.2157:0.0747	.	5054;5054;5054;4983	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	5054;4983;5054;4983;4801	ENSP00000356224:S5054I;ENSP00000396024:S4983I;ENSP00000265368:S5054I;ENSP00000390975:S4983I;ENSP00000341887:S4801I	ENSP00000265368:S5054I	S	-	2	0	SYNE1	152689256	0.000000	0.05858	0.755000	0.31263	0.213000	0.24496	-0.130000	0.10498	1.354000	0.45846	0.655000	0.94253	AGC		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		20	71	1	0	3.52e-12	4.76e-12	20	71				
CNKSR3	154043	broad.mit.edu	37	6	154727611	154727611	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:154727611G>A	ENST00000607772.1	-	13	2089	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	CNKSR3_ENST00000479339.1_Silent_p.A435A|CNKSR3_ENST00000433165.2_Silent_p.A340A	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATGGAATCGTGGCGCTGCTGT	0.582																																						uc003qpy.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1543-1545)GCC>GCT		CNKSR family member 3							150.0	125.0	134.0					6																	154727611		2203	4300	6503	SO:0001819	synonymous_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727611G>A	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1545C>T	6.37:g.154727611G>A							p.A515A	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	2050	-		Ovarian(120;0.196)	515			DUF1170.		Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	37	c.1545C>T	CCDS5246.1																																																																																				0.582	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		32	70	0	0	0	0	32	70				
NOX3	50508	broad.mit.edu	37	6	155718053	155718053	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:155718053T>C	ENST00000159060.2	-	13	1726	c.1624A>G	c.(1624-1626)Agg>Ggg	p.R542G		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	542					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAGTGTCCTCGAGAGAGCT	0.468																																						uc003qqm.2		NA																	0				ovary(1)	1						c.(1624-1626)AGG>GGG		NADPH oxidase 3							98.0	96.0	97.0					6																	155718053		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155718053T>C	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1624A>G	6.37:g.155718053T>C	ENSP00000159060:p.Arg542Gly						p.R542G	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	13	1727	-		Breast(66;0.0183)	542			Cytoplasmic (Potential).		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1624A>G	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	T	6.876	0.531120	0.13127	.	.	ENSG00000074771	ENST00000159060	T	0.63580	-0.05	5.53	4.35	0.52113	Ferric reductase, NAD binding (1);	0.299136	0.28671	N	0.014526	T	0.29321	0.0730	L	0.28054	0.825	0.09310	N	1	B	0.27625	0.183	B	0.25506	0.061	T	0.15780	-1.0425	10	0.52906	T	0.07	-18.9082	11.465	0.50232	0.0:0.0:0.1505:0.8495	.	542	Q9HBY0	NOX3_HUMAN	G	542	ENSP00000159060:R542G	ENSP00000159060:R542G	R	-	1	2	NOX3	155759745	1.000000	0.71417	0.067000	0.19924	0.001000	0.01503	5.480000	0.66820	0.918000	0.36919	-0.466000	0.05196	AGG		0.468	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			28	69	0	0	0	0	28	69				
PLG	5340	broad.mit.edu	37	6	161128796	161128796	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:161128796A>G	ENST00000308192.9	+	3	313	c.250A>G	c.(250-252)Ata>Gta	p.I84V	PLG_ENST00000366924.2_Missense_Mutation_p.I84V|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	84	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGTCCTCCATAATCATTAG	0.408																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(250-252)ATA>GTA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						183.0	176.0	178.0					6																	161128796		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161128796A>G	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.250A>G	6.37:g.161128796A>G	ENSP00000308938:p.Ile84Val						p.I84V	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	3	313	+			84			PAN.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.250A>G	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	0.630	-0.817421	0.02776	.	.	ENSG00000122194	ENST00000366924;ENST00000308192;ENST00000418964	D;D;D	0.88354	-2.37;-2.37;-2.37	4.32	-8.41	0.00961	PAN-1 domain (1);Apple-like (2);Kringle-like fold (1);	3.094940	0.01961	U	0.043324	T	0.41719	0.1171	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.58869	-0.7560	10	0.02654	T	1	.	1.2492	0.01979	0.3657:0.1734:0.294:0.1669	.	84	P00747	PLMN_HUMAN	V	84;84;101	ENSP00000355891:I84V;ENSP00000308938:I84V;ENSP00000389424:I101V	ENSP00000308938:I84V	I	+	1	0	PLG	161048786	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.248000	0.00266	-1.601000	0.01601	-0.333000	0.08304	ATA		0.408	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		47	143	0	0	0	0	47	143				
PDE10A	10846	broad.mit.edu	37	6	165801917	165801917	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:165801917A>G	ENST00000366882.1	-	18	1806	c.1652T>C	c.(1651-1653)cTg>cCg	p.L551P	PDE10A_ENST00000539869.2_Missense_Mutation_p.L561P|PDE10A_ENST00000354448.4_Missense_Mutation_p.L551P			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	551					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTCATGACACAGACACGCAAT	0.488																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(1651-1653)CTG>CCG		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						134.0	116.0	122.0					6																	165801917		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165801917A>G	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1652T>C	6.37:g.165801917A>G	ENSP00000355847:p.Leu551Pro					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.L481P|PDE10A_uc003quo.2_Missense_Mutation_p.L561P	p.L551P	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	18	1893	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	551					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1652T>C		.	.	.	.	.	.	.	.	.	.	A	25.7	4.664187	0.88251	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.82711	-1.64;-1.64	5.89	5.89	0.94794	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92071	0.7487	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93753	0.7060	10	0.87932	D	0	.	16.3109	0.82869	1.0:0.0:0.0:0.0	.	561;551	Q9ULW9;Q9Y233	.;PDE10_HUMAN	P	551;579;561;551;550	ENSP00000355847:L551P;ENSP00000346435:L551P	ENSP00000341187:L561P	L	-	2	0	PDE10A	165721907	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.620000	0.90943	2.257000	0.74773	0.460000	0.39030	CTG		0.488	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			25	66	0	0	0	0	25	66				
GPER1	2852	broad.mit.edu	37	7	1132336	1132336	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:1132336C>T	ENST00000297469.3	+	2	1663	c.972C>T	c.(970-972)taC>taT	p.Y324Y	C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397088.3_Silent_p.Y324Y|GPER1_ENST00000401670.1_Silent_p.Y324Y|GPER1_ENST00000397092.1_Silent_p.Y324Y|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	324					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CCCTCATCTACAGCTTTCTCG	0.587																																						uc010ksd.1		NA																	0				ovary(1)	1						c.(970-972)TAC>TAT		G protein-coupled receptor 30							108.0	82.0	91.0					7																	1132336		2203	4300	6503	SO:0001819	synonymous_variant	2852					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1132336C>T	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.972C>T	7.37:g.1132336C>T						C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.Y324Y|GPER_uc003ska.1_Silent_p.Y324Y|GPER_uc003skb.2_Silent_p.Y324Y	p.Y324Y	NM_001098201	NP_001091671	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	2	1361	+		Ovarian(82;0.0253)	324			Helical; Name=7; (Potential).		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	ENST00000297469.3	37	c.972C>T	CCDS5322.1																																																																																				0.587	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		55	85	0	0	0	0	55	85				
FBXL18	80028	broad.mit.edu	37	7	5541042	5541042	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:5541042C>G	ENST00000382368.3	-	3	981	c.858G>C	c.(856-858)atG>atC	p.M286I	FBXL18_ENST00000453700.3_Missense_Mutation_p.M286I	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	286									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CATTGCGCGCCATGGAGTCCA	0.602																																						uc003soo.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(856-858)ATG>ATC		F-box and leucine-rich repeat protein 18							42.0	48.0	46.0					7																	5541042		2139	4245	6384	SO:0001583	missense	80028							g.chr7:5541042C>G	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.858G>C	7.37:g.5541042C>G	ENSP00000371805:p.Met286Ile					FBXL18_uc003son.3_Missense_Mutation_p.M286I	p.M286I	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	952	-		Ovarian(82;0.0607)	286					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.858G>C	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.986349|3.986349	0.74589|0.74589	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700|ENST00000458142	T;T|.	0.49720|.	0.81;0.77|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.040423|.	0.85682|.	D|.	0.000000|.	T|T	0.58104|0.58104	0.2099|0.2099	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;P|.	0.42941|.	0.794;0.655|.	B;B|.	0.43052|.	0.406;0.269|.	T|T	0.52056|0.52056	-0.8626|-0.8626	10|5	0.34782|.	T|.	0.22|.	.|.	18.4757|18.4757	0.90791|0.90791	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	286;286|.	F5H4Z4;Q96ME1-4|.	.;.|.	I|S	286|170	ENSP00000371805:M286I;ENSP00000444797:M286I|.	ENSP00000311990:M286I|.	M|W	-|-	3|2	0|0	FBXL18|FBXL18	5507568|5507568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	2.823000|2.823000	0.48081|0.48081	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.602	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		21	26	0	0	0	0	21	26				
PMS2	5395	broad.mit.edu	37	7	6042083	6042083	+	Splice_Site	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:6042083C>T	ENST00000265849.7	-	5	643		c.e5+1		PMS2_ENST00000469652.1_Intron|Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000382321.4_Splice_Site|PMS2_ENST00000406569.3_Splice_Site	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATTTACTGTACCTTCTTAATA	0.408			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2		NA	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			0				lung(1)|central_nervous_system(1)	2						c.e5+1	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							44.0	53.0	50.0					7																	6042083		2200	4291	6491	SO:0001630	splice_region_variant	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6042083C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.537+1G>A	7.37:g.6042083C>T						PMS2_uc003spj.2_Splice_Site_p.K73_splice|PMS2_uc003spk.2_Splice_Site_p.K44_splice|PMS2_uc011jwl.1_Splice_Site_p.K44_splice|PMS2_uc010ktg.2_Splice_Site|PMS2_uc010kte.2_Splice_Site_p.K179_splice|PMS2_uc010ktf.1_Splice_Site_p.K179_splice	p.K179_splice	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	5	624	-		Ovarian(82;0.0694)						B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Splice_Site	SNP	ENST00000265849.7	37	c.537_splice	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.350638	0.82132	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476;ENST00000406569	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1906	0.93664	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PMS2	6008609	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.416000	0.80143	2.541000	0.85698	0.557000	0.71058	.		0.408	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	Intron	8	146	0	0	0	0	8	146				
IGF2BP3	10643	broad.mit.edu	37	7	23383461	23383461	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:23383461A>T	ENST00000258729.3	-	9	1309	c.953T>A	c.(952-954)tTg>tAg	p.L318*		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	318	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ATACAGCGTCAATTCCTGCAA	0.383																																						uc003swg.2		NA																	0				ovary(2)	2						c.(952-954)TTG>TAG		insulin-like growth factor 2 mRNA binding							85.0	74.0	78.0					7																	23383461		2203	4300	6503	SO:0001587	stop_gained	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23383461A>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.953T>A	7.37:g.23383461A>T	ENSP00000258729:p.Leu318*					IGF2BP3_uc003swf.2_Intron	p.L318*	NM_006547	NP_006538	O00425	IF2B3_HUMAN			9	1219	-			318			KH 2.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Nonsense_Mutation	SNP	ENST00000258729.3	37	c.953T>A	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	A	41	8.919990	0.99002	.	.	ENSG00000136231	ENST00000258729	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9047	15.6329	0.76926	1.0:0.0:0.0:0.0	.	.	.	.	X	318	.	ENSP00000258729:L318X	L	-	2	0	IGF2BP3	23349986	1.000000	0.71417	0.977000	0.42913	0.982000	0.71751	9.281000	0.95811	2.094000	0.63399	0.455000	0.32223	TTG		0.383	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		27	27	0	0	0	0	27	27				
CREB5	9586	broad.mit.edu	37	7	28857725	28857725	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:28857725T>A	ENST00000357727.2	+	10	1682	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q	CREB5_ENST00000409603.1_Missense_Mutation_p.L398Q|CREB5_ENST00000396299.2_Missense_Mutation_p.L398Q|CREB5_ENST00000396298.2_Missense_Mutation_p.L292Q|CREB5_ENST00000396300.2_Missense_Mutation_p.L424Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	431	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GTGGCCCAGCTGAAACAGTTG	0.388																																						uc003szq.2		NA																	0				skin(2)	2						c.(1291-1293)CTG>CAG		cAMP responsive element binding protein 5							126.0	121.0	123.0					7																	28857725		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28857725T>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1292T>A	7.37:g.28857725T>A	ENSP00000350359:p.Leu431Gln					CREB5_uc003szo.2_Missense_Mutation_p.L398Q|CREB5_uc003szr.2_Missense_Mutation_p.L424Q|CREB5_uc003szs.2_Missense_Mutation_p.L292Q	p.L431Q	NM_182898	NP_878901	Q02930	CREB5_HUMAN			10	1682	+			431			Leucine-zipper.		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.1292T>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.851064	0.91277	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298;ENST00000498316	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	6.16	6.16	0.99307	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91407	0.5148	10	0.87932	D	0	-18.804	16.8061	0.85666	0.0:0.0:0.0:1.0	.	292;431	B4DU13;Q02930	.;CREB5_HUMAN	Q	398;431;424;398;292;13	ENSP00000379593:L398Q;ENSP00000350359:L431Q;ENSP00000379594:L424Q;ENSP00000387197:L398Q;ENSP00000379592:L292Q	ENSP00000350359:L431Q	L	+	2	0	CREB5	28824250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.895000	0.87343	2.367000	0.80283	0.528000	0.53228	CTG		0.388	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		20	78	0	0	0	0	20	78				
CPVL	54504	broad.mit.edu	37	7	29152338	29152338	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:29152338G>C	ENST00000409850.1	-	7	916	c.270C>G	c.(268-270)ttC>ttG	p.F90L	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Missense_Mutation_p.F90L|CPVL_ENST00000265394.5_Missense_Mutation_p.F90L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	90						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GGAAGAACCAGAAGAAGAGGT	0.493																																						uc003szv.2		NA																	0				ovary(2)	2						c.(268-270)TTC>TTG		serine carboxypeptidase vitellogenic-like							107.0	96.0	100.0					7																	29152338		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29152338G>C	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.270C>G	7.37:g.29152338G>C	ENSP00000387164:p.Phe90Leu					CPVL_uc003szw.2_Missense_Mutation_p.F90L|CPVL_uc003szx.2_Missense_Mutation_p.F90L	p.F90L	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			3	389	-			90					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.270C>G	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132682	0.77662	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000448959;ENST00000447426	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.83	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	H	0.97103	3.94	0.58432	D	0.999998	P	0.39809	0.689	B	0.39617	0.305	D	0.92674	0.6152	10	0.87932	D	0	-28.3053	9.5445	0.39273	0.0752:0.1444:0.7803:0.0	.	90	Q9H3G5	CPVL_HUMAN	L	90;90;90;20;20	ENSP00000265394:F90L;ENSP00000379572:F90L;ENSP00000387164:F90L;ENSP00000409036:F20L;ENSP00000395690:F20L	ENSP00000265394:F90L	F	-	3	2	CPVL	29118863	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.166000	0.50785	1.467000	0.48044	-0.264000	0.10439	TTC		0.493	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		34	37	0	0	0	0	34	37				
PPP1R17	10842	broad.mit.edu	37	7	31735160	31735160	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:31735160C>A	ENST00000342032.3	+	3	788	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	54					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										ACAGGCCACCCTGAATGTTGA	0.423																																						uc003tcl.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(160-162)CTG>ATG		G-substrate isoform 1							130.0	129.0	129.0					7																	31735160		2203	4300	6503	SO:0001583	missense	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735160C>A	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.160C>A	7.37:g.31735160C>A	ENSP00000340125:p.Leu54Met					C7orf16_uc011kaf.1_Intron	p.L54M	NM_006658	NP_006649	O96001	GSUB_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		3	318	+			54					B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.160C>A	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572356	0.45798	.	.	ENSG00000106341	ENST00000342032	T	0.33438	1.41	5.45	0.443	0.16587	.	0.775565	0.11542	N	0.553679	T	0.30417	0.0764	L	0.56769	1.78	0.09310	N	1	B	0.28880	0.226	B	0.37239	0.244	T	0.35847	-0.9772	10	0.36615	T	0.2	0.033	5.957	0.19279	0.1225:0.6048:0.0:0.2727	.	54	O96001	PPR17_HUMAN	M	54	ENSP00000340125:L54M	ENSP00000340125:L54M	L	+	1	2	C7orf16	31701685	0.069000	0.21087	0.001000	0.08648	0.979000	0.70002	0.445000	0.21677	0.079000	0.16929	0.655000	0.94253	CTG		0.423	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		62	86	1	0	8.48e-36	1.28e-35	62	86				
BMPER	168667	broad.mit.edu	37	7	34125437	34125437	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:34125437T>G	ENST00000297161.2	+	14	1852	c.1478T>G	c.(1477-1479)cTc>cGc	p.L493R	BMPER_ENST00000426693.1_Missense_Mutation_p.L493R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	493	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAGGGCAAGCTCTGTGGTCTT	0.443																																						uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1477-1479)CTC>CGC		BMP-binding endothelial regulator precursor							134.0	117.0	123.0					7																	34125437		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125437T>G		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1478T>G	7.37:g.34125437T>G	ENSP00000297161:p.Leu493Arg						p.L493R	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			13	1592	+			493			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1478T>G	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.561709	0.86335	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.60797	0.16;0.16	6.08	6.08	0.98989	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.82107	0.4965	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86408	0.1746	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	493	Q8N8U9	BMPER_HUMAN	R	493	ENSP00000297161:L493R;ENSP00000393950:L493R	ENSP00000297161:L493R	L	+	2	0	BMPER	34091962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.333000	0.79357	0.533000	0.62120	CTC		0.443	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		32	50	0	0	0	0	32	50				
MYO1G	64005	broad.mit.edu	37	7	45005293	45005293	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:45005293G>A	ENST00000258787.7	-	17	2460	c.2324C>T	c.(2323-2325)cCg>cTg	p.P775L		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	775						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P775L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGGGGGCAGCGGCCACACAAG	0.637																																						uc003tmh.2		NA																	1	Substitution - Missense(1)		endometrium(1)	breast(2)|ovary(1)|pancreas(1)	4						c.(2323-2325)CCG>CTG		myosin IG							64.0	61.0	62.0					7																	45005293		2202	4300	6502	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45005293G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2324C>T	7.37:g.45005293G>A	ENSP00000258787:p.Pro775Leu					MYO1G_uc003tmf.2_Missense_Mutation_p.P218L|MYO1G_uc003tmg.2_Missense_Mutation_p.P537L|MYO1G_uc010kym.2_Missense_Mutation_p.P660L	p.P775L	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			17	2468	-			775					Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.2324C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184290	0.57800	.	.	ENSG00000136286	ENST00000258787	D	0.87887	-2.31	4.22	3.34	0.38264	.	0.000000	0.35013	U	0.003508	D	0.92734	0.7690	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92706	0.6179	10	0.87932	D	0	.	11.102	0.48179	0.0937:0.0:0.9063:0.0	.	775	B0I1T2	MYO1G_HUMAN	L	775	ENSP00000258787:P775L	ENSP00000258787:P775L	P	-	2	0	MYO1G	44971818	1.000000	0.71417	0.658000	0.29665	0.428000	0.31595	7.125000	0.77193	0.884000	0.36064	0.462000	0.41574	CCG		0.637	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			44	43	0	0	0	0	44	43				
HUS1	3364	broad.mit.edu	37	7	48016391	48016391	+	Missense_Mutation	SNP	G	G	A	rs370417384		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:48016391G>A	ENST00000258774.5	-	4	424	c.401C>T	c.(400-402)cCc>cTc	p.P134L	HUS1_ENST00000432325.1_Missense_Mutation_p.P113L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	134					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				CACCTTTATGGGGATGTCATG	0.413								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	uc003tod.1		NA																	0				ovary(2)|lung(2)|kidney(1)	5						c.(400-402)CCC>CTC	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	HUS1 checkpoint protein		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	190.0	175.0	180.0		401	4.9	0.9	7		180	0,8600		0,0,4300	no	missense	HUS1	NM_004507.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	134/281	48016391	1,13005	2203	4300	6503	SO:0001583	missense	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48016391G>A	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.401C>T	7.37:g.48016391G>A	ENSP00000258774:p.Pro134Leu					HUS1_uc003toe.1_Missense_Mutation_p.P134L|HUS1_uc011kce.1_RNA	p.P134L	NM_004507	NP_004498	O60921	HUS1_HUMAN			4	531	-		Breast(660;0.00139)	134					B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	c.401C>T	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410770	0.83340	2.27E-4	0.0	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74484	-0.3650	10	0.87932	D	0	-15.382	15.5511	0.76152	0.0:0.0:1.0:0.0	.	134	O60921	HUS1_HUMAN	L	134;113;113;113	ENSP00000258774:P134L;ENSP00000416588:P113L;ENSP00000404855:P113L;ENSP00000398806:P113L	ENSP00000258774:P134L	P	-	2	0	HUS1	47982916	1.000000	0.71417	0.933000	0.37362	0.823000	0.46562	8.414000	0.90238	2.512000	0.84698	0.561000	0.74099	CCC		0.413	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		73	101	0	0	0	0	73	101				
ABCA13	154664	broad.mit.edu	37	7	48411888	48411888	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:48411888G>T	ENST00000435803.1	+	33	10951	c.10927G>T	c.(10927-10929)Gca>Tca	p.A3643S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3643					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGCATCTTTGCACACAGCAA	0.458																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(10927-10929)GCA>TCA		ATP binding cassette, sub-family A (ABC1),							265.0	261.0	262.0					7																	48411888		2053	4207	6260	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411888G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10927G>T	7.37:g.48411888G>T	ENSP00000411096:p.Ala3643Ser					ABCA13_uc010kys.1_Missense_Mutation_p.A717S|ABCA13_uc003tos.1_Missense_Mutation_p.A469S	p.A3643S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			33	10952	+			3643					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10927G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	3.782	-0.045420	0.07452	.	.	ENSG00000179869	ENST00000435803	D	0.87103	-2.21	5.77	-5.48	0.02592	.	1.033550	0.07694	N	0.939186	T	0.75228	0.3821	L	0.29908	0.895	0.09310	N	1	B;P	0.39352	0.274;0.669	B;B	0.34931	0.112;0.192	T	0.64952	-0.6286	10	0.35671	T	0.21	.	9.4184	0.38536	0.5923:0.1669:0.2407:0.0	.	1345;3643	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	S	3643	ENSP00000411096:A3643S	ENSP00000411096:A3643S	A	+	1	0	ABCA13	48382434	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	0.001000	0.13038	-0.820000	0.04318	-0.136000	0.14681	GCA		0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		68	116	1	0	2.5e-33	3.76e-33	68	116				
GBAS	2631	broad.mit.edu	37	7	56062652	56062652	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:56062652G>A	ENST00000322090.3	+	8	712	c.683G>A	c.(682-684)gGg>gAg	p.G228E	GBAS_ENST00000446778.1_Missense_Mutation_p.G189E	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	228					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTCAGATTGGGCAGCTGTAC	0.453																																						uc003tre.1		NA																	0				central_nervous_system(1)	1						c.(682-684)GGG>GAG		nipsnap homolog 2							296.0	258.0	271.0					7																	56062652		2203	4300	6503	SO:0001583	missense	2631					integral to plasma membrane|membrane fraction|mitochondrion	protein binding	g.chr7:56062652G>A	AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729			4179	protein-coding gene	gene with protein product		603004				9615231, 9661659, 20888800	Standard	NM_001483		Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000322090.3:c.683G>A	7.37:g.56062652G>A	ENSP00000313050:p.Gly228Glu					GBAS_uc003trf.1_Missense_Mutation_p.G189E	p.G228E	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	691	+	Breast(14;0.214)		228					C9IYJ3|O43801|Q53X96	Missense_Mutation	SNP	ENST00000322090.3	37	c.683G>A	CCDS5521.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324584	0.95708	.	.	ENSG00000146729	ENST00000322090;ENST00000446778	D;D	0.86627	-2.15;-2.15	5.7	5.7	0.88788	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	D	0.95137	0.8424	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95682	0.8733	10	0.87932	D	0	-19.7688	18.8203	0.92094	0.0:0.0:1.0:0.0	.	189;228	C9IYJ3;O75323	.;NIPS2_HUMAN	E	228;189	ENSP00000313050:G228E;ENSP00000406855:G189E	ENSP00000313050:G228E	G	+	2	0	GBAS	56030146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.339000	0.90041	2.685000	0.91497	0.655000	0.94253	GGG		0.453	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251524.1	NM_001483		34	662	0	0	0	0	34	662				
TBL2	26608	broad.mit.edu	37	7	72985558	72985558	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:72985558G>A	ENST00000305632.5	-	6	1080	c.839C>T	c.(838-840)gCg>gTg	p.A280V	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.A244V	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	280							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGCACAGCCGCGGAGTGGCC	0.567																																						uc003tyh.2		NA																	0					0						c.(838-840)GCG>GTG		transducin (beta)-like 2							74.0	63.0	66.0					7																	72985558		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72985558G>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.839C>T	7.37:g.72985558G>A	ENSP00000307260:p.Ala280Val					TBL2_uc011kex.1_Missense_Mutation_p.A244V|TBL2_uc010lbg.2_Missense_Mutation_p.A185V|TBL2_uc003tyi.2_Missense_Mutation_p.A115V|TBL2_uc011key.1_Missense_Mutation_p.A151V|TBL2_uc010lbh.2_Missense_Mutation_p.A185V	p.A280V	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			6	973	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	280			WD 5.		Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.839C>T	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970360	0.74246	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.61040	0.14;0.14	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.097154	0.64402	D	0.000001	T	0.68952	0.3057	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.66268	-0.5966	10	0.40728	T	0.16	-13.8514	16.4892	0.84195	0.0:0.0:1.0:0.0	.	244;280	E9PF19;Q9Y4P3	.;TBL2_HUMAN	V	280;280;244	ENSP00000307260:A280V;ENSP00000413979:A244V	ENSP00000307260:A280V	A	-	2	0	TBL2	72623494	1.000000	0.71417	0.889000	0.34880	0.156000	0.22039	9.263000	0.95617	2.762000	0.94881	0.561000	0.74099	GCG		0.567	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		15	44	0	0	0	0	15	44				
HGF	3082	broad.mit.edu	37	7	81346600	81346600	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:81346600C>G	ENST00000222390.5	-	11	1579	c.1353G>C	c.(1351-1353)tgG>tgC	p.W451C	HGF_ENST00000457544.2_Missense_Mutation_p.W446C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	451	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCGTGTAGCACCAGGGTCCAT	0.423																																						uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1351-1353)TGG>TGC		hepatocyte growth factor isoform 1							246.0	187.0	207.0					7																	81346600		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81346600C>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1353G>C	7.37:g.81346600C>G	ENSP00000222390:p.Trp451Cys					HGF_uc003uhm.2_Missense_Mutation_p.W446C	p.W451C	NM_000601	NP_000592	P14210	HGF_HUMAN			11	1518	-			451			Kringle 4.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1353G>C	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788678	0.70337	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.81579	-1.51;-1.51	6.02	6.02	0.97574	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95825	0.8853	10	0.87932	D	0	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	446;451	P14210-3;P14210	.;HGF_HUMAN	C	451;446	ENSP00000222390:W451C;ENSP00000391238:W446C	ENSP00000222390:W451C	W	-	3	0	HGF	81184536	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	6.716000	0.74702	2.850000	0.98022	0.650000	0.86243	TGG		0.423	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		15	48	0	0	0	0	15	48				
PCLO	27445	broad.mit.edu	37	7	82764673	82764673	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:82764673C>A	ENST00000333891.9	-	3	2530	c.2193G>T	c.(2191-2193)aaG>aaT	p.K731N	PCLO_ENST00000423517.2_Missense_Mutation_p.K731N	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						GAGGGGCTGGCTTGGACAAAG	0.537																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(2191-2193)AAG>AAT		piccolo isoform 1							113.0	109.0	110.0					7																	82764673		1925	4125	6050	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.chr7:82764673C>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.2193G>T	7.37:g.82764673C>A	ENSP00000334319:p.Lys731Asn					PCLO_uc003uhv.2_Missense_Mutation_p.K731N	p.K731N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2482	-			677			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2193G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	2.065	-0.414410	0.04766	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.27	5.83	4.94	0.65067	.	.	.	.	.	T	0.11495	0.0280	L	0.27053	0.805	0.21064	N	0.999798	B;B	0.34015	0.178;0.435	B;B	0.31101	0.124;0.124	T	0.12578	-1.0542	9	0.87932	D	0	.	6.161	0.20364	0.0:0.6534:0.1512:0.1954	.	731;731	Q9Y6V0-5;Q9Y6V0-6	.;.	N	677;731;731	ENSP00000334319:K731N;ENSP00000388393:K731N	ENSP00000334319:K731N	K	-	3	2	PCLO	82602609	0.000000	0.05858	0.758000	0.31321	0.168000	0.22595	-0.416000	0.07097	2.757000	0.94681	0.591000	0.81541	AAG		0.537	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	43	1	0	0.000442599	0.000499374	10	43				
PCLO	27445	broad.mit.edu	37	7	82784850	82784850	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:82784850A>G	ENST00000333891.9	-	2	1444	c.1107T>C	c.(1105-1107)gcT>gcC	p.A369A	PCLO_ENST00000423517.2_Silent_p.A369A	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						CTGGAGGCTTAGCAGGACCAA	0.577																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(1105-1107)GCT>GCC		piccolo isoform 1							49.0	51.0	51.0					7																	82784850		1972	4165	6137	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784850A>G	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.1107T>C	7.37:g.82784850A>G						PCLO_uc003uhv.2_Silent_p.A369A	p.A369A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1396	-			329			Gln-rich.|Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.1107T>C	CCDS47630.1																																																																																				0.577	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	36	0	0	0	0	11	36				
SEMA3A	10371	broad.mit.edu	37	7	83590917	83590917	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:83590917T>C	ENST00000265362.4	-	17	2400	c.2086A>G	c.(2086-2088)Aca>Gca	p.T696A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T696A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	696					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGCTAGGTGTCATGCTATTG	0.438																																						uc003uhz.2		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(2086-2088)ACA>GCA		semaphorin 3A precursor							204.0	178.0	187.0					7																	83590917		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83590917T>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2086A>G	7.37:g.83590917T>C	ENSP00000265362:p.Thr696Ala						p.T696A	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			17	2401	-			696						Missense_Mutation	SNP	ENST00000265362.4	37	c.2086A>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	5.095	0.203158	0.09704	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.27256	1.68;1.68	6.08	6.08	0.98989	.	0.269394	0.43919	D	0.000509	T	0.13713	0.0332	N	0.14661	0.345	0.44539	D	0.99749	B	0.06786	0.001	B	0.04013	0.001	T	0.11717	-1.0576	10	0.07482	T	0.82	.	11.6893	0.51505	0.132:0.0:0.0:0.868	.	696	Q14563	SEM3A_HUMAN	A	696	ENSP00000265362:T696A;ENSP00000415260:T696A	ENSP00000265362:T696A	T	-	1	0	SEMA3A	83428853	1.000000	0.71417	0.929000	0.37066	0.820000	0.46376	1.931000	0.40134	2.333000	0.79357	0.533000	0.62120	ACA		0.438	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		31	81	0	0	0	0	31	81				
TECPR1	25851	broad.mit.edu	37	7	97874270	97874270	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:97874270G>A	ENST00000447648.2	-	4	634	c.335C>T	c.(334-336)cCc>cTc	p.P112L	TECPR1_ENST00000542604.1_Missense_Mutation_p.P33L|TECPR1_ENST00000379795.3_Missense_Mutation_p.P112L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	112					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGCGGCGAGGGCAGTGCCAC	0.622																																						uc003upg.2		NA																	0				pancreas(1)	1						c.(334-336)CCC>CTC		tectonin beta-propeller repeat containing 1							40.0	49.0	46.0					7																	97874270		2162	4265	6427	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97874270G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.335C>T	7.37:g.97874270G>A	ENSP00000404923:p.Pro112Leu					TECPR1_uc003uph.1_Missense_Mutation_p.P33L	p.P112L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			4	540	-			112					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.335C>T	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648598	0.87958	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	D;D;T	0.99905	-7.72;-7.72;1.08	5.26	4.38	0.52667	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96073	0.9047	10	0.87932	D	0	-26.3443	12.8089	0.57629	0.0793:0.0:0.9207:0.0	.	33;112	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	112;112;33	ENSP00000404923:P112L;ENSP00000369121:P112L;ENSP00000441121:P33L	ENSP00000369121:P112L	P	-	2	0	TECPR1	97712206	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.878000	0.87231	1.228000	0.43614	0.555000	0.69702	CCC		0.622	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		8	22	0	0	0	0	8	22				
RELN	5649	broad.mit.edu	37	7	103194255	103194255	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:103194255C>A	ENST00000428762.1	-	39	5980	c.5821G>T	c.(5821-5823)Gtt>Ttt	p.V1941F	RELN_ENST00000343529.5_Missense_Mutation_p.V1941F|RELN_ENST00000424685.2_Missense_Mutation_p.V1941F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1941					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTCATCAACAATCCAGATT	0.348																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5821-5823)GTT>TTT		reelin isoform a							139.0	132.0	134.0					7																	103194255		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103194255C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5821G>T	7.37:g.103194255C>A	ENSP00000392423:p.Val1941Phe					RELN_uc010liz.2_Missense_Mutation_p.V1941F	p.V1941F	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	39	5981	-			1941					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5821G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404285	0.42613	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.27890	1.65;1.64;1.65	6.07	-1.68	0.08212	Neuraminidase (1);	0.566298	0.20167	N	0.097824	T	0.25754	0.0627	L	0.38175	1.15	0.18873	N	0.999987	B;B	0.29136	0.234;0.213	B;B	0.37650	0.255;0.157	T	0.32025	-0.9922	10	0.72032	D	0.01	.	9.7068	0.40220	0.1122:0.2201:0.0:0.6677	.	1941;1941	P78509-2;P78509	.;RELN_HUMAN	F	1941	ENSP00000392423:V1941F;ENSP00000345694:V1941F;ENSP00000388446:V1941F	ENSP00000345694:V1941F	V	-	1	0	RELN	102981491	0.130000	0.22417	0.373000	0.26003	0.967000	0.64934	0.037000	0.13840	-0.694000	0.05113	-0.140000	0.14226	GTT		0.348	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		11	54	1	0	6.4e-05	7.38e-05	11	54				
RELN	5649	broad.mit.edu	37	7	103202352	103202352	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:103202352C>T	ENST00000428762.1	-	35	5418	c.5259G>A	c.(5257-5259)ggG>ggA	p.G1753G	RELN_ENST00000343529.5_Silent_p.G1753G|RELN_ENST00000424685.2_Silent_p.G1753G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1753					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGAATCAGCCCCCACAGTGT	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5257-5259)GGG>GGA		reelin isoform a							78.0	65.0	70.0					7																	103202352		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103202352C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5259G>A	7.37:g.103202352C>T						RELN_uc010liz.2_Silent_p.G1753G	p.G1753G	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5419	-			1753					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5259G>A	CCDS47680.1																																																																																				0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		11	19	0	0	0	0	11	19				
SLC26A3	1811	broad.mit.edu	37	7	107423469	107423469	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:107423469G>T	ENST00000340010.5	-	10	1373	c.1189C>A	c.(1189-1191)Ctc>Atc	p.L397I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L362I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	397					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GATCTGGAGAGGGCAGTACTC	0.458																																						uc003ver.2		NA																	0				ovary(3)|skin(1)	4						c.(1189-1191)CTC>ATC		solute carrier family 26, member 3							127.0	120.0	123.0					7																	107423469		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107423469G>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1189C>A	7.37:g.107423469G>T	ENSP00000345873:p.Leu397Ile					SLC26A3_uc003ves.2_Missense_Mutation_p.L362I	p.L397I	NM_000111	NP_000102	P40879	S26A3_HUMAN			10	1400	-			397						Missense_Mutation	SNP	ENST00000340010.5	37	c.1189C>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279176	0.80692	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92858	-3.12;-3.12	6.07	5.18	0.71444	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95579	0.8563	M	0.79805	2.47	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95259	0.8367	10	0.49607	T	0.09	.	11.8698	0.52513	0.0644:0.0:0.8122:0.1235	.	362;397	G5E9U3;P40879	.;S26A3_HUMAN	I	362;397	ENSP00000415817:L362I;ENSP00000345873:L397I	ENSP00000345873:L397I	L	-	1	0	SLC26A3	107210705	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.134000	0.57990	1.553000	0.49476	0.655000	0.94253	CTC		0.458	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		32	87	1	0	9.18e-22	1.35e-21	32	87				
LAMB4	22798	broad.mit.edu	37	7	107696308	107696308	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:107696308C>T	ENST00000388781.3	-	25	3607	c.3524G>A	c.(3523-3525)tGt>tAt	p.C1175Y	LAMB4_ENST00000205386.4_Missense_Mutation_p.C1175Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.C1175Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1175	Domain II.				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						GCACAAGTGACATTGAAGACA	0.542																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(3523-3525)TGT>TAT		laminin, beta 4 precursor							95.0	92.0	93.0					7																	107696308		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107696308C>T	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.3524G>A	7.37:g.107696308C>T	ENSP00000373433:p.Cys1175Tyr					LAMB4_uc003vey.2_Missense_Mutation_p.C1175Y|LAMB4_uc010ljp.1_Missense_Mutation_p.C144Y	p.C1175Y	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			25	3608	-			1175			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3524G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785634	0.70337	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.14	4.26	0.50523	.	0.117279	0.38959	N	0.001504	T	0.81809	0.4901	H	0.97829	4.085	0.80722	D	1	D;B	0.89917	1.0;0.413	D;B	0.77557	0.99;0.277	D	0.88359	0.2986	10	0.87932	D	0	.	13.784	0.63099	0.0:0.9269:0.0:0.0731	.	1175;1175	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	Y	1175;1175;201;1175	ENSP00000205386:C1175Y;ENSP00000373433:C1175Y;ENSP00000416562:C201Y;ENSP00000373432:C1175Y	ENSP00000205386:C1175Y	C	-	2	0	LAMB4	107483544	1.000000	0.71417	0.687000	0.30102	0.998000	0.95712	5.378000	0.66190	1.410000	0.46936	0.655000	0.94253	TGT		0.542	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		20	75	0	0	0	0	20	75				
ASZ1	136991	broad.mit.edu	37	7	117003704	117003704	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:117003704T>C	ENST00000284629.2	-	13	1436	c.1374A>G	c.(1372-1374)atA>atG	p.I458M		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGAATCCGCATATGGTAATAG	0.318																																						uc003vjb.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1372-1374)ATA>ATG		ankyrin repeat, SAM and basic leucine zipper							116.0	116.0	116.0					7																	117003704		2203	4298	6501	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117003704T>C	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1374A>G	7.37:g.117003704T>C	ENSP00000284629:p.Ile458Met					ASZ1_uc011kno.1_Missense_Mutation_p.I449M|ASZ1_uc011knp.1_Missense_Mutation_p.I250M	p.I458M	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		13	1437	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		458						Missense_Mutation	SNP	ENST00000284629.2	37	c.1374A>G	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	T	9.864	1.197088	0.22037	.	.	ENSG00000154438	ENST00000284629	T	0.33654	1.4	5.23	-4.97	0.03029	.	0.596961	0.17130	N	0.185847	T	0.14313	0.0346	N	0.08118	0	0.19300	N	0.999978	B;B	0.22480	0.07;0.07	B;B	0.21151	0.014;0.033	T	0.09314	-1.0680	10	0.72032	D	0.01	2.9217	6.4326	0.21805	0.0:0.365:0.2429:0.3921	.	449;458	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	M	458	ENSP00000284629:I458M	ENSP00000284629:I458M	I	-	3	3	ASZ1	116790940	0.641000	0.27251	0.157000	0.22605	0.411000	0.31082	-0.542000	0.06091	-0.984000	0.03507	-0.326000	0.08463	ATA		0.318	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		14	40	0	0	0	0	14	40				
ASB15	142685	broad.mit.edu	37	7	123270163	123270163	+	Silent	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:123270163C>A	ENST00000451558.1	+	13	2105	c.1584C>A	c.(1582-1584)cgC>cgA	p.R528R	ASB15_ENST00000275699.3_Silent_p.R528R|ASB15_ENST00000451215.1_Silent_p.R528R|ASB15_ENST00000540573.1_Silent_p.R528R|ASB15_ENST00000434204.1_Silent_p.R528R			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	528	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAAATCCGCCAAATACTAG	0.353																																						uc003vku.1		NA																	0				skin(2)|lung(1)	3						c.(1582-1584)CGC>CGA		ankyrin repeat and SOCS box-containing 15							78.0	75.0	76.0					7																	123270163		2203	4300	6503	SO:0001819	synonymous_variant	142685				intracellular signal transduction			g.chr7:123270163C>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1584C>A	7.37:g.123270163C>A						ASB15_uc003vkw.1_Silent_p.R528R	p.R528R	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			11	1876	+			528			SOCS box.		Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.1584C>A	CCDS34742.1																																																																																				0.353	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			20	49	1	0	5.35e-07	6.59e-07	20	49				
ZNF282	8427	broad.mit.edu	37	7	148903833	148903833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:148903833G>T	ENST00000262085.3	+	3	736	c.631G>T	c.(631-633)Gag>Tag	p.E211*	ZNF282_ENST00000479907.1_Nonsense_Mutation_p.E211*	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	211	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCCGAAGACGAGTGGAAGAA	0.498																																						uc003wfm.2		NA																	0					0						c.(631-633)GAG>TAG		zinc finger protein 282							308.0	251.0	270.0					7																	148903833		2203	4300	6503	SO:0001587	stop_gained	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148903833G>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.631G>T	7.37:g.148903833G>T	ENSP00000262085:p.Glu211*					ZNF282_uc011kun.1_Nonsense_Mutation_p.E211*|ZNF282_uc003wfn.2_Nonsense_Mutation_p.E151*|ZNF282_uc003wfo.2_Nonsense_Mutation_p.E151*	p.E211*	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	3	736	+	Melanoma(164;0.15)		211			KRAB.		B4DRI5|O43691|Q6DKK0	Nonsense_Mutation	SNP	ENST00000262085.3	37	c.631G>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	37	6.467616	0.97590	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	.	.	.	5.69	5.69	0.88448	.	0.000000	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.6028	17.2995	0.87178	0.0:0.0:1.0:0.0	.	.	.	.	X	126;211;211	.	ENSP00000262085:E211X	E	+	1	0	ZNF282	148534766	1.000000	0.71417	0.981000	0.43875	0.908000	0.53690	6.156000	0.71840	2.682000	0.91365	0.655000	0.94253	GAG		0.498	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		74	174	1	0	9.08e-34	1.37e-33	74	174				
TDRP	157695	broad.mit.edu	37	8	444571	444571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:444571C>T	ENST00000324079.6	-	2	375	c.135G>A	c.(133-135)tgG>tgA	p.W45*	TDRP_ENST00000427263.2_Nonsense_Mutation_p.W45*|TDRP_ENST00000523656.1_Nonsense_Mutation_p.W45*|TDRP_ENST00000524229.1_5'UTR			Q86YL5	TDRP_HUMAN	testis development related protein	45					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCACTTCTTTCCAACCTCGGA	0.383																																						uc003wpd.2		NA																	0					0						c.(133-135)TGG>TGA		hypothetical protein LOC157695							133.0	118.0	123.0					8																	444571		1879	4115	5994	SO:0001587	stop_gained	157695							g.chr8:444571C>T	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.135G>A	8.37:g.444571C>T	ENSP00000315111:p.Trp45*					C8orf42_uc011kwg.1_Nonsense_Mutation_p.W45*	p.W45*	NM_175075	NP_778250	Q86YL5	CH042_HUMAN		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)	2	709	-		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	45					B6VF03|B9EG53	Nonsense_Mutation	SNP	ENST00000324079.6	37	c.135G>A	CCDS47759.1	.	.	.	.	.	.	.	.	.	.	C	39	7.520501	0.98335	.	.	ENSG00000180190	ENST00000324079;ENST00000523656;ENST00000427263	.	.	.	5.92	5.92	0.95590	.	0.055012	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-21.648	17.8003	0.88585	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000315111:W45X	W	-	3	0	C8orf42	434571	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.921000	0.63397	2.809000	0.96659	0.650000	0.86243	TGG		0.383	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075		10	30	0	0	0	0	10	30				
USP17L2	377630	broad.mit.edu	37	8	11995836	11995836	+	Missense_Mutation	SNP	G	G	A	rs367856582	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:11995836G>A	ENST00000333796.3	-	1	750	c.434C>T	c.(433-435)cCc>cTc	p.P145L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	145	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGCCTGTGAGGGCTGGATGAC	0.527																																						uc003wvc.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(433-435)CCC>CTC		deubiquitinating enzyme 3							24.0	27.0	26.0					8																	11995836		1378	2893	4271	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995836G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.434C>T	8.37:g.11995836G>A	ENSP00000333329:p.Pro145Leu					FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.P145L	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	434	-			145						Missense_Mutation	SNP	ENST00000333796.3	37	c.434C>T	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.137959	0.37728	.	.	ENSG00000223443	ENST00000333796	T	0.08984	3.03	0.745	0.745	0.18359	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.15262	0.0368	M	0.82132	2.575	0.48236	D	0.999619	P	0.35192	0.489	P	0.45232	0.474	T	0.02115	-1.1211	10	0.87932	D	0	.	4.9133	0.13833	0.0:0.0:1.0:0.0	.	145	Q6R6M4	U17L2_HUMAN	L	145	ENSP00000333329:P145L	ENSP00000333329:P145L	P	-	2	0	USP17L2	12033245	0.989000	0.36119	0.009000	0.14445	0.009000	0.06853	2.058000	0.41374	0.733000	0.32492	0.472000	0.43445	CCC		0.527	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		39	70	0	0	0	0	39	70				
LONRF1	91694	broad.mit.edu	37	8	12598387	12598387	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:12598387T>C	ENST00000398246.3	-	3	1028	c.959A>G	c.(958-960)cAa>cGa	p.Q320R	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	320							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GATTACCTTTTGTACTTGCAG	0.373																																						uc003wwd.1		NA																	0				ovary(1)	1						c.(958-960)CAA>CGA		LON peptidase N-terminal domain and ring finger							127.0	129.0	129.0					8																	12598387		1831	4081	5912	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12598387T>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.959A>G	8.37:g.12598387T>C	ENSP00000381298:p.Gln320Arg					LONRF1_uc010lsp.1_5'UTR	p.Q320R	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	3	1022	-			320					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.959A>G	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	T	16.48	3.133858	0.56828	.	.	ENSG00000154359	ENST00000398246	T	0.28895	1.59	5.53	4.35	0.52113	Tetratricopeptide-like helical (1);	0.340480	0.29239	N	0.012721	T	0.18841	0.0452	N	0.08118	0	0.80722	D	1	B	0.25850	0.136	B	0.31442	0.13	T	0.06643	-1.0815	10	0.48119	T	0.1	-9.0785	12.0564	0.53538	0.1293:0.0:0.0:0.8707	.	320	Q17RB8	LONF1_HUMAN	R	320	ENSP00000381298:Q320R	ENSP00000381298:Q320R	Q	-	2	0	LONRF1	12642758	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.229000	0.78088	1.010000	0.39314	0.533000	0.62120	CAA		0.373	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		39	64	0	0	0	0	39	64				
PTK2B	2185	broad.mit.edu	37	8	27310644	27310644	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:27310644G>A	ENST00000397501.1	+	33	3370	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G	PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000338238.4_Silent_p.G812G|PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000420218.2_Silent_p.G812G|PTK2B_ENST00000346049.5_Silent_p.G854G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	854	Interaction with TGFB1I1. {ECO:0000250}.|Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AGTTCACAGGGCCCCCACAGA	0.542																																						uc003xfn.1		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.(2560-2562)GGG>GGA		PTK2B protein tyrosine kinase 2 beta isoform a							65.0	67.0	66.0					8																	27310644		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27310644G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2562G>A	8.37:g.27310644G>A						PTK2B_uc003xfo.1_Silent_p.G854G|PTK2B_uc003xfp.1_Silent_p.G854G|PTK2B_uc003xfq.1_Silent_p.G812G	p.G854G	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	33	3370	+		Ovarian(32;2.72e-05)	854			Interaction with TGFB1I1 (By similarity).|Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2562G>A	CCDS6057.1																																																																																				0.542	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		33	60	0	0	0	0	33	60				
FGFR1	2260	broad.mit.edu	37	8	38287450	38287450	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:38287450G>A	ENST00000447712.2	-	3	1049	c.108C>T	c.(106-108)gcC>gcT	p.A36A	FGFR1_ENST00000532791.1_Silent_p.A36A|FGFR1_ENST00000397108.4_Silent_p.A36A|FGFR1_ENST00000425967.3_Silent_p.A69A|FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397091.5_Silent_p.A36A|FGFR1_ENST00000397113.2_Silent_p.A36A|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000335922.5_Silent_p.A28A|FGFR1_ENST00000341462.5_Silent_p.A36A	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	36	Ig-like C2-type 1.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTTCCACAGGGGCTCCCCAGG	0.672		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		0				lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(106-108)GCC>GCT		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						17.0	17.0	17.0					8																	38287450		2200	4298	6498	SO:0001819	synonymous_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38287450G>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.108C>T	8.37:g.38287450G>A						FGFR1_uc011lbo.1_Silent_p.A36A|FGFR1_uc011lbp.1_Intron|FGFR1_uc011lbq.1_Intron|FGFR1_uc010lwk.2_Silent_p.A28A|FGFR1_uc011lbr.1_5'Flank|FGFR1_uc011lbs.1_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Silent_p.A69A|FGFR1_uc011lbv.1_Silent_p.A36A|FGFR1_uc011lbw.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.2_Intron|FGFR1_uc003xlu.2_Intron|FGFR1_uc003xlw.1_RNA	p.A36A	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		3	1050	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	36			Extracellular (Potential).|Ig-like C2-type 1.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	c.108C>T	CCDS6107.2																																																																																				0.672	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				82	19	0	0	0	0	82	19				
KAT6A	7994	broad.mit.edu	37	8	41836253	41836253	+	Missense_Mutation	SNP	C	C	G	rs201266052		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:41836253C>G	ENST00000396930.3	-	7	1493	c.950G>C	c.(949-951)cGa>cCa	p.R317P	KAT6A_ENST00000485568.1_Missense_Mutation_p.R317P|KAT6A_ENST00000265713.2_Missense_Mutation_p.R317P|KAT6A_ENST00000406337.1_Missense_Mutation_p.R317P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	317	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TAGAAGTTTTCGTCCTTTTTT	0.353																																						uc010lxb.2		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(949-951)CGA>CCA		MYST histone acetyltransferase (monocytic							254.0	238.0	243.0					8																	41836253		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41836253C>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.950G>C	8.37:g.41836253C>G	ENSP00000380136:p.Arg317Pro					MYST3_uc010lxc.2_Missense_Mutation_p.R317P|MYST3_uc003xon.3_Missense_Mutation_p.R317P|MYST3_uc010lxd.2_Missense_Mutation_p.R317P	p.R317P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		7	1494	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	317			Interaction with RUNX1-1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.950G>C	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405839	0.42715	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;T	0.87491	-2.26;-2.26;-2.26;0.09	5.47	5.47	0.80525	.	0.083254	0.48767	D	0.000170	D	0.90676	0.7075	L	0.48218	1.51	0.36970	D	0.893753	D;D	0.76494	0.977;0.999	P;D	0.63381	0.593;0.914	D	0.90706	0.4624	10	0.34782	T	0.22	-6.4302	19.4191	0.94713	0.0:1.0:0.0:0.0	.	317;317	A5PLL3;Q92794	.;KAT6A_HUMAN	P	317	ENSP00000265713:R317P;ENSP00000385888:R317P;ENSP00000380136:R317P;ENSP00000430606:R317P	ENSP00000265713:R317P	R	-	2	0	KAT6A	41955410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.462000	0.60121	2.572000	0.86782	0.644000	0.83932	CGA		0.353	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		33	110	0	0	0	0	33	110				
RP1	6101	broad.mit.edu	37	8	55533742	55533742	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:55533742G>T	ENST00000220676.1	+	2	364	c.216G>T	c.(214-216)agG>agT	p.R72S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	72	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTTGTCCAGGAAGGTGCCCC	0.592																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(214-216)AGG>AGT		retinitis pigmentosa RP1 protein							124.0	98.0	107.0					8																	55533742		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533742G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.216G>T	8.37:g.55533742G>T	ENSP00000220676:p.Arg72Ser					RP1_uc011ldy.1_Missense_Mutation_p.R72S	p.R72S	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	364	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	72			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.216G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633451	0.67015	.	.	ENSG00000104237	ENST00000220676	D	0.92397	-3.03	5.25	1.42	0.22433	Doublecortin domain (5);	0.538306	0.18211	N	0.148187	D	0.88651	0.6494	L	0.39147	1.195	0.35462	D	0.796592	P	0.47484	0.896	P	0.49192	0.602	D	0.86167	0.1597	10	0.62326	D	0.03	-0.6885	4.9396	0.13958	0.4446:0.149:0.4064:0.0	.	72	P56715	RP1_HUMAN	S	72	ENSP00000220676:R72S	ENSP00000220676:R72S	R	+	3	2	RP1	55696295	0.997000	0.39634	0.876000	0.34364	0.917000	0.54804	0.940000	0.28992	-0.017000	0.14103	0.585000	0.79938	AGG		0.592	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		25	95	1	0	9.86e-18	1.42e-17	25	95				
PENK	5179	broad.mit.edu	37	8	57353977	57353977	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:57353977G>C	ENST00000314922.3	-	2	734	c.658C>G	c.(658-660)Cca>Gca	p.P220A	PENK_ENST00000451791.2_Missense_Mutation_p.P220A|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	220					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CACCACTCTGGGCGACCTACT	0.537																																						uc003xsz.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(658-660)CCA>GCA		proenkephalin							98.0	100.0	99.0					8																	57353977		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353977G>C		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.658C>G	8.37:g.57353977G>C	ENSP00000324248:p.Pro220Ala					PENK_uc003xta.3_Missense_Mutation_p.P220A	p.P220A	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	739	-		all_lung(136;0.229)	220					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.658C>G	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479264	0.84747	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.60040	0.22;0.22	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69072	-0.5242	10	0.41790	T	0.15	-15.3493	19.2867	0.94077	0.0:0.0:1.0:0.0	.	220	P01210	PENK_HUMAN	A	220	ENSP00000324248:P220A;ENSP00000400894:P220A	ENSP00000324248:P220A	P	-	1	0	PENK	57516531	1.000000	0.71417	0.975000	0.42487	0.724000	0.41520	8.925000	0.92832	2.793000	0.96121	0.655000	0.94253	CCA		0.537	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			47	112	0	0	0	0	47	112				
CHD7	55636	broad.mit.edu	37	8	61774807	61774807	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:61774807A>G	ENST00000423902.2	+	36	8362	c.7883A>G	c.(7882-7884)cAt>cGt	p.H2628R	CHD7_ENST00000524602.1_Missense_Mutation_p.H579R	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2628					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGAAACGACATAGATGTCGA	0.353																																						uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(7882-7884)CAT>CGT		chromodomain helicase DNA binding protein 7							55.0	50.0	52.0					8																	61774807		1845	4090	5935	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61774807A>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7883A>G	8.37:g.61774807A>G	ENSP00000392028:p.His2628Arg						p.H2628R	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		36	8360	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2628					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7883A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343390	0.82022	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.81908	-1.55;2.02	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	L	0.51422	1.61	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	D	0.86477	0.1789	10	0.32370	T	0.25	-19.4055	15.7733	0.78190	1.0:0.0:0.0:0.0	.	2628	Q9P2D1	CHD7_HUMAN	R	2628;2628;579	ENSP00000392028:H2628R;ENSP00000437061:H579R	ENSP00000307304:H2628R	H	+	2	0	CHD7	61937361	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.306000	0.96204	2.126000	0.65437	0.529000	0.55759	CAT		0.353	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	11	0	0	0	0	7	11				
SLCO5A1	81796	broad.mit.edu	37	8	70594460	70594460	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:70594460A>C	ENST00000260126.4	-	7	2447	c.1741T>G	c.(1741-1743)Tgt>Ggt	p.C581G	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C526G|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C581G	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	581	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					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)			CCAGCCAGACAAGGGTTAAAG	0.423																																						uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1741-1743)TGT>GGT		solute carrier organic anion transporter family,							185.0	156.0	166.0					8																	70594460		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70594460A>C	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.1741T>G	8.37:g.70594460A>C	ENSP00000260126:p.Cys581Gly					SLCO5A1_uc010lzb.2_Missense_Mutation_p.C526G|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C581G	p.C581G	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		7	2448	-	Breast(64;0.0654)		581			Extracellular (Potential).|Kazal-like.		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1741T>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033175	0.75504	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.68903	-0.36;-0.36;-0.36	5.77	4.6	0.57074	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	D	0.88175	0.6366	H	0.98446	4.235	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.91067	0.4890	10	0.87932	D	0	.	12.347	0.55126	0.8735:0.0:0.0:0.1265	.	526;581;581	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	G	581;581;526	ENSP00000260126:C581G;ENSP00000434422:C581G;ENSP00000431611:C526G	ENSP00000260126:C581G	C	-	1	0	SLCO5A1	70757014	1.000000	0.71417	0.924000	0.36721	0.994000	0.84299	9.273000	0.95719	0.993000	0.38866	0.459000	0.35465	TGT		0.423	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		17	68	0	0	0	0	17	68				
CRISPLD1	83690	broad.mit.edu	37	8	75932314	75932314	+	Splice_Site	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:75932314G>A	ENST00000262207.4	+	12	1712	c.1244G>A	c.(1243-1245)aGa>aAa	p.R415K	CRISPLD1_ENST00000517786.1_Splice_Site_p.R229K|CRISPLD1_ENST00000523524.1_Splice_Site_p.R227K	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	415	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.R415I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATTGCCCAAGGTAAACCAGT	0.408																																						uc003yan.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1243-1245)AGA>AAA		cysteine-rich secretory protein LCCL domain							104.0	95.0	98.0					8																	75932314		2203	4300	6503	SO:0001630	splice_region_variant	83690					extracellular region		g.chr8:75932314G>A	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1244+1G>A	8.37:g.75932314G>A						CRISPLD1_uc011lfk.1_Missense_Mutation_p.R227K|CRISPLD1_uc011lfl.1_Missense_Mutation_p.R227K	p.R415K	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		12	1619	+	Breast(64;0.0799)		415			LCCL 2.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1244G>A	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494225	0.96339	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.89485	-2.52;-2.52;-2.52	5.44	5.44	0.79542	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.95127	0.8421	M	0.86178	2.8	0.80722	D	1	D;D	0.69078	0.967;0.997	D;D	0.79108	0.963;0.992	D	0.94766	0.7940	10	0.54805	T	0.06	.	19.4586	0.94906	0.0:0.0:1.0:0.0	.	229;415	B7Z929;Q9H336	.;CRLD1_HUMAN	K	415;227;229	ENSP00000262207:R415K;ENSP00000430105:R227K;ENSP00000429746:R229K	ENSP00000262207:R415K	R	+	2	0	CRISPLD1	76094869	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.222000	0.95196	2.834000	0.97654	0.650000	0.86243	AGA		0.408	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461	Missense_Mutation	14	32	0	0	0	0	14	32				
CA2	760	broad.mit.edu	37	8	86386585	86386585	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:86386585G>T	ENST00000285379.5	+	4	614	c.384G>T	c.(382-384)ggG>ggT	p.G128G		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	128					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)	CCAAATATGGGGATTTTGGGA	0.393																																						uc003ydk.2		NA																	0				central_nervous_system(1)	1						c.(382-384)GGG>GGT		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)						174.0	185.0	181.0					8																	86386585		2203	4300	6503	SO:0001819	synonymous_variant	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86386585G>T	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.384G>T	8.37:g.86386585G>T							p.G128G	NM_000067	NP_000058	P00918	CAH2_HUMAN			4	564	+			128					B2R7G8|Q6FI12|Q96ET9	Silent	SNP	ENST00000285379.5	37	c.384G>T	CCDS6239.1																																																																																				0.393	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		35	111	1	0	4.4e-34	6.63e-34	35	111				
TMEM55A	55529	broad.mit.edu	37	8	92007999	92007999	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:92007999C>A	ENST00000285419.3	-	7	994	c.680G>T	c.(679-681)tGg>tTg	p.W227L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	227						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			AGCAATTGCCCAAGAAACATA	0.363																																						uc003yes.2		NA																	0					0						c.(679-681)TGG>TTG		transmembrane protein 55A							101.0	96.0	98.0					8																	92007999		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92007999C>A	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.680G>T	8.37:g.92007999C>A	ENSP00000285419:p.Trp227Leu						p.W227L	NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		7	906	-			227			Helical; (Potential).		B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.680G>T	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305245	0.81247	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.36	5.36	0.76844	.	0.054529	0.85682	D	0.000000	T	0.74313	0.3700	L	0.42245	1.32	0.80722	D	1	D	0.59357	0.985	D	0.71414	0.973	T	0.75548	-0.3279	9	0.66056	D	0.02	-26.7949	19.4348	0.94786	0.0:1.0:0.0:0.0	.	227	Q8N4L2	TM55A_HUMAN	L	227;233	.	ENSP00000285419:W227L	W	-	2	0	TMEM55A	92077175	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	2.663000	0.90544	0.650000	0.86243	TGG		0.363	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		15	43	1	0	1.68e-08	2.14e-08	15	43				
PKHD1L1	93035	broad.mit.edu	37	8	110510777	110510777	+	Silent	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:110510777T>C	ENST00000378402.5	+	66	10790	c.10686T>C	c.(10684-10686)gcT>gcC	p.A3562A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3562					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCACTGCTGCTCATCGGAGTC	0.343										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(10684-10686)GCT>GCC		fibrocystin L precursor							133.0	123.0	126.0					8																	110510777		1846	4103	5949	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110510777T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10686T>C	8.37:g.110510777T>C		HNSCC(38;0.096)					p.A3562A	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		66	10790	+			3562			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10686T>C	CCDS47911.1																																																																																				0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		18	47	0	0	0	0	18	47				
PKHD1L1	93035	broad.mit.edu	37	8	110530661	110530661	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:110530661G>T	ENST00000378402.5	+	73	12059	c.11955G>T	c.(11953-11955)agG>agT	p.R3985S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3985					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTGAGGAGGAAGAGATCCA	0.388										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(11953-11955)AGG>AGT		fibrocystin L precursor							70.0	69.0	69.0					8																	110530661		1852	4080	5932	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110530661G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11955G>T	8.37:g.110530661G>T	ENSP00000367655:p.Arg3985Ser	HNSCC(38;0.096)					p.R3985S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		73	12059	+			3985			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.11955G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121321	0.37436	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.89415	-2.51;-2.28	5.93	3.05	0.35203	.	0.368341	0.32244	N	0.006363	D	0.85509	0.5713	M	0.72894	2.215	0.31462	N	0.669456	B	0.31054	0.306	B	0.30029	0.11	T	0.82486	-0.0433	10	0.62326	D	0.03	.	5.9808	0.19405	0.0751:0.1361:0.6478:0.141	.	3985	Q86WI1	PKHL1_HUMAN	S	3985;913	ENSP00000367655:R3985S;ENSP00000437376:R913S	ENSP00000367655:R3985S	R	+	3	2	PKHD1L1	110599837	1.000000	0.71417	0.625000	0.29200	0.201000	0.24016	1.142000	0.31540	0.343000	0.23821	0.655000	0.94253	AGG		0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		17	52	1	0	1.15e-07	1.43e-07	17	52				
CSMD3	114788	broad.mit.edu	37	8	113249531	113249531	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113249531G>C	ENST00000297405.5	-	67	10759	c.10515C>G	c.(10513-10515)taC>taG	p.Y3505*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y3336*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y3465*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y3435*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3505						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						CTTTGAAATTGTAAGAGCCTT	0.348										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.(10513-10515)TAC>TAG		CUB and Sushi multiple domains 3 isoform 1							157.0	144.0	148.0					8																	113249531		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113249531G>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.10515C>G	8.37:g.113249531G>C	ENSP00000297405:p.Tyr3505*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.Y2707*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y3465*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y3336*	p.Y3505*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			67	10674	-			3505			Extracellular (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.10515C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	51	17.490049	0.99887	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.77	-1.61	0.08399	.	0.090578	0.46442	D	0.000299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6815	0.23123	0.3366:0.1118:0.5516:0.0	.	.	.	.	X	3465;3505;2775;3336;3435	.	ENSP00000297405:Y3505X	Y	-	3	2	CSMD3	113318707	0.982000	0.34865	0.993000	0.49108	0.533000	0.34776	0.213000	0.17521	-0.254000	0.09500	-0.499000	0.04595	TAC		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	50	0	0	0	0	10	50				
CSMD3	114788	broad.mit.edu	37	8	113277722	113277722	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113277722G>T	ENST00000297405.5	-	60	9850	c.9606C>A	c.(9604-9606)ggC>ggA	p.G3202G	CSMD3_ENST00000455883.2_Silent_p.G3033G|CSMD3_ENST00000343508.3_Silent_p.G3162G|CSMD3_ENST00000352409.3_Silent_p.G3132G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3202	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						CCATCGTGTAGCCTGGCTGGC	0.423										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.(9604-9606)GGC>GGA		CUB and Sushi multiple domains 3 isoform 1							201.0	169.0	180.0					8																	113277722		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113277722G>T	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.9606C>A	8.37:g.113277722G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.G2404G|CSMD3_uc003ynt.2_Silent_p.G3162G|CSMD3_uc011lhx.1_Silent_p.G3033G	p.G3202G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			60	9765	-			3202			Extracellular (Potential).|Sushi 24.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9606C>A	CCDS6315.1																																																																																				0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	63	1	0	2.08e-15	2.94e-15	32	63				
CSMD3	114788	broad.mit.edu	37	8	113317077	113317077	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:113317077G>A	ENST00000297405.5	-	52	8383	c.8139C>T	c.(8137-8139)tcC>tcT	p.S2713S	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.S2673S|CSMD3_ENST00000352409.3_Silent_p.S2643S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2713	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						ATTCATAATGGGAGCCATTCA	0.403										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.(8137-8139)TCC>TCT		CUB and Sushi multiple domains 3 isoform 1							97.0	83.0	88.0					8																	113317077		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113317077G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8139C>T	8.37:g.113317077G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.S1915S|CSMD3_uc003ynt.2_Silent_p.S2673S|CSMD3_uc011lhx.1_Intron	p.S2713S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			52	8298	-			2713			Extracellular (Potential).|Sushi 16.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.8139C>T	CCDS6315.1																																																																																				0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	25	0	0	0	0	10	25				
OC90	729330	broad.mit.edu	37	8	133036754	133036754	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:133036754C>A	ENST00000443356.2	-	15	1542	c.1456G>T	c.(1456-1458)Ggg>Tgg	p.G486W	OC90_ENST00000603859.1_Missense_Mutation_p.G470W|OC90_ENST00000254627.3_Missense_Mutation_p.G470W|OC90_ENST00000262283.5_Missense_Mutation_p.G682W			Q02509	OC90_HUMAN	otoconin 90	486					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCCCGATCCCCAAGGGACCC	0.582																																						uc003ytg.2		NA																	0				ovary(2)|skin(1)	3						c.(1408-1410)GGG>TGG		otoconin 90							24.0	27.0	26.0					8																	133036754		1920	4139	6059	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133036754C>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1456G>T	8.37:g.133036754C>A	ENSP00000390050:p.Gly486Trp					OC90_uc011lix.1_Missense_Mutation_p.G470W	p.G470W	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		13	1408	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		486					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.1408G>T		.	.	.	.	.	.	.	.	.	.	C	15.47	2.841674	0.51057	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.35236	1.35;1.37;1.32	5.85	4.97	0.65823	.	0.539958	0.19600	N	0.110403	T	0.51193	0.1660	L	0.52573	1.65	0.09310	N	1	D;D	0.89917	0.998;1.0	D;D	0.79784	0.957;0.993	T	0.42682	-0.9437	10	0.87932	D	0	-5.1268	9.1967	0.37233	0.0:0.8356:0.0:0.1644	.	470;486	Q02509-2;Q02509	.;OC90_HUMAN	W	470;486;682	ENSP00000254627:G470W;ENSP00000390050:G486W;ENSP00000262283:G682W	ENSP00000254627:G470W	G	-	1	0	RP11-240B13.2;OC90	133105936	0.001000	0.12720	0.006000	0.13384	0.004000	0.04260	1.159000	0.31749	1.480000	0.48289	0.655000	0.94253	GGG		0.582	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		13	25	1	0	3.27e-08	4.14e-08	13	25				
PHF20L1	51105	broad.mit.edu	37	8	133856460	133856460	+	Silent	SNP	A	A	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:133856460A>G	ENST00000395386.2	+	20	3107	c.2808A>G	c.(2806-2808)ccA>ccG	p.P936P	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000395390.2_Silent_p.P911P|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Silent_p.P323P	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	936							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CCGAAGACCCAGGAGACTCAC	0.418																																						uc003ytt.2		NA																	0				ovary(2)	2						c.(2806-2808)CCA>CCG		PHD finger protein 20-like 1 isoform 1							109.0	104.0	105.0					8																	133856460		1903	4126	6029	SO:0001819	synonymous_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133856460A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2808A>G	8.37:g.133856460A>G						PHF20L1_uc011lja.1_Silent_p.P910P	p.P936P	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		20	3133	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		936					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	c.2808A>G	CCDS6367.2																																																																																				0.418	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		25	47	0	0	0	0	25	47				
ZFAT	57623	broad.mit.edu	37	8	135614050	135614050	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:135614050C>A	ENST00000377838.3	-	6	2086	c.1912G>T	c.(1912-1914)Gcc>Tcc	p.A638S	ZFAT_ENST00000520214.1_Missense_Mutation_p.A626S|ZFAT_ENST00000429442.2_Missense_Mutation_p.A626S|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Missense_Mutation_p.A626S|ZFAT_ENST00000523399.1_Missense_Mutation_p.A576S|ZFAT_ENST00000520356.1_Missense_Mutation_p.A626S	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	638					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCACTCTGGGCCTTGGACAGC	0.597																																						uc003yup.2		NA																	0				central_nervous_system(1)	1						c.(1912-1914)GCC>TCC		zinc finger protein 406 isoform ZFAT-1							79.0	83.0	82.0					8																	135614050		2041	4188	6229	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614050C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1912G>T	8.37:g.135614050C>A	ENSP00000367069:p.Ala638Ser					ZFAT_uc003yun.2_Missense_Mutation_p.A626S|ZFAT_uc003yuo.2_Missense_Mutation_p.A626S|ZFAT_uc010meh.2_Missense_Mutation_p.A626S|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A626S|ZFAT_uc010mej.2_Missense_Mutation_p.A576S|ZFAT_uc003yur.2_Missense_Mutation_p.A626S	p.A638S	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	2087	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		638					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1912G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	1.470	-0.560087	0.03967	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.09445	3.05;2.98;2.99;2.98;2.98;3.0	5.11	3.3	0.37823	.	0.885594	0.09963	N	0.733106	T	0.06600	0.0169	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.24483	0.062;0.104;0.034;0.012	B;B;B;B	0.24394	0.053;0.039;0.022;0.01	T	0.44528	-0.9322	10	0.07482	T	0.82	-3.9331	4.9462	0.13991	0.1536:0.6191:0.1483:0.079	.	576;626;626;638	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	S	626;626;626;638;626;525;576;626	ENSP00000427879:A626S;ENSP00000427831:A626S;ENSP00000394501:A626S;ENSP00000367069:A638S;ENSP00000428483:A626S;ENSP00000429091:A576S	ENSP00000326997:A525S	A	-	1	0	ZFAT	135683232	0.008000	0.16893	0.001000	0.08648	0.107000	0.19398	1.526000	0.35964	0.723000	0.32274	0.561000	0.74099	GCC		0.597	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		21	76	1	0	3.6e-14	5e-14	21	76				
KANK1	23189	broad.mit.edu	37	9	738306	738306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:738306C>T	ENST00000382303.1	+	12	4007	c.3355C>T	c.(3355-3357)Cag>Tag	p.Q1119*	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Nonsense_Mutation_p.Q1119*|KANK1_ENST00000382293.3_Nonsense_Mutation_p.Q961*	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1119					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAACACCCTCCAGCACGAGTG	0.502																																						uc003zgl.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3355-3357)CAG>TAG		KN motif and ankyrin repeat domains 1 isoform a							78.0	58.0	64.0					9																	738306		2203	4300	6503	SO:0001587	stop_gained	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:738306C>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3355C>T	9.37:g.738306C>T	ENSP00000371740:p.Gln1119*					KANK1_uc003zgn.1_Nonsense_Mutation_p.Q1119*|KANK1_uc003zgs.1_Nonsense_Mutation_p.Q961*|KANK1_uc010mgx.1_Nonsense_Mutation_p.Q97*|KANK1_uc010mgy.1_Nonsense_Mutation_p.Q31*|KANK1_uc003zgt.1_Nonsense_Mutation_p.Q31*	p.Q1119*	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	12	4004	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1119					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Nonsense_Mutation	SNP	ENST00000382303.1	37	c.3355C>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	37	6.034342	0.97221	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	.	.	.	5.73	5.73	0.89815	.	0.000000	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-2.9853	20.2786	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	1119;165;1119;961;97;31	.	ENSP00000371723:Q31X	Q	+	1	0	KANK1	728306	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.400000	0.79949	2.868000	0.98415	0.557000	0.71058	CAG		0.502	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		8	12	0	0	0	0	8	12				
PTPRD	5789	broad.mit.edu	37	9	8340364	8340364	+	Silent	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:8340364G>T	ENST00000381196.4	-	39	5775	c.5232C>A	c.(5230-5232)acC>acA	p.T1744T	PTPRD_ENST00000355233.5_Silent_p.T1338T|PTPRD_ENST00000540109.1_Silent_p.T1744T|PTPRD_ENST00000358503.5_Silent_p.T1722T|PTPRD_ENST00000397617.3_Silent_p.T1337T|PTPRD_ENST00000486161.1_Silent_p.T1337T|PTPRD_ENST00000360074.4_Silent_p.T1731T|PTPRD_ENST00000356435.5_Silent_p.T1744T|PTPRD_ENST00000397611.3_Silent_p.T1334T|PTPRD_ENST00000397606.3_Silent_p.T1337T|PTPRD_ENST00000537002.1_Silent_p.T1334T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1744	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACGCAGCTTGGTGAGCATCA	0.483										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(5230-5232)ACC>ACA		protein tyrosine phosphatase, receptor type, D							139.0	114.0	123.0					9																	8340364		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8340364G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5232C>A	9.37:g.8340364G>T		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Silent_p.T1338T|PTPRD_uc003zkq.2_Silent_p.T1337T|PTPRD_uc003zkr.2_Silent_p.T1328T|PTPRD_uc003zks.2_Silent_p.T1337T|PTPRD_uc003zkl.2_Silent_p.T1735T|PTPRD_uc003zkm.2_Silent_p.T1731T|PTPRD_uc003zkn.2_Silent_p.T1333T|PTPRD_uc003zko.2_Silent_p.T1334T	p.T1744T	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	5943	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1744			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5232C>A	CCDS43786.1																																																																																				0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			18	26	1	0	9.17e-09	1.18e-08	18	26				
ALDH1B1	219	broad.mit.edu	37	9	38395768	38395768	+	Missense_Mutation	SNP	G	G	A	rs61757680		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:38395768G>A	ENST00000377698.3	+	2	176	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	8					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CTGGCACCCCGGCTGCTTAGC	0.627																																						uc004aay.2		NA																	0				skin(1)	1						c.(22-24)CGG>CAG		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)	G	GLN/ARG	0,4406		0,0,2203	52.0	51.0	52.0		23	4.9	1.0	9	dbSNP_129	52	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALDH1B1	NM_000692.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	8/518	38395768	1,13005	2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38395768G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.23G>A	9.37:g.38395768G>A	ENSP00000366927:p.Arg8Gln						p.R8Q	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	135	+			8					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.23G>A	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989144	0.35131	0.0	1.16E-4	ENSG00000137124	ENST00000377698	T	0.76060	-0.99	5.8	4.9	0.64082	.	0.725239	0.11944	N	0.514375	T	0.51415	0.1673	N	0.08118	0	0.28374	N	0.919856	P	0.34412	0.453	B	0.24006	0.05	T	0.41716	-0.9493	10	0.28530	T	0.3	.	10.7597	0.46258	0.0871:0.0:0.9129:0.0	rs61757680	8	P30837	AL1B1_HUMAN	Q	8	ENSP00000366927:R8Q	ENSP00000366927:R8Q	R	+	2	0	ALDH1B1	38385768	0.515000	0.26210	1.000000	0.80357	0.527000	0.34593	2.289000	0.43523	1.458000	0.47871	0.650000	0.86243	CGG		0.627	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			30	44	0	0	0	0	30	44				
SMC5	23137	broad.mit.edu	37	9	72897368	72897368	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:72897368G>A	ENST00000361138.5	+	7	908	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	284					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GGAATATGAAGAAGTAAAACT	0.353																																						uc004ahr.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(850-852)GAA>AAA		SMC5 protein							88.0	88.0	88.0					9																	72897368		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72897368G>A	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.850G>A	9.37:g.72897368G>A	ENSP00000354957:p.Glu284Lys						p.E284K	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			7	967	+			284			Potential.		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.850G>A	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211865	0.58452	.	.	ENSG00000198887	ENST00000361138	T	0.20881	2.04	5.61	5.61	0.85477	RecF/RecN/SMC (1);	0.318283	0.34067	N	0.004288	T	0.24470	0.0593	L	0.36672	1.1	0.34934	D	0.749642	P	0.36837	0.571	B	0.42319	0.383	T	0.09079	-1.0691	10	0.20046	T	0.44	-8.937	20.0044	0.97430	0.0:0.0:1.0:0.0	.	284	Q8IY18	SMC5_HUMAN	K	284	ENSP00000354957:E284K	ENSP00000354957:E284K	E	+	1	0	SMC5	72087188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.471000	0.60182	2.804000	0.96469	0.650000	0.86243	GAA		0.353	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		16	29	0	0	0	0	16	29				
SPATA31D1	389763	broad.mit.edu	37	9	84607177	84607177	+	Silent	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:84607177C>T	ENST00000344803.2	+	4	1839	c.1792C>T	c.(1792-1794)Ctg>Ttg	p.L598L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	598					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCTCTATTCCTGATTAGGAT	0.502																																						uc004amn.2		NA																	0					0						c.(1792-1794)CTG>TTG		hypothetical protein LOC389763							123.0	112.0	115.0					9																	84607177		1912	4123	6035	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84607177C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1792C>T	9.37:g.84607177C>T							p.L598L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1839	+			598						Silent	SNP	ENST00000344803.2	37	c.1792C>T	CCDS47986.1																																																																																				0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		28	50	0	0	0	0	28	50				
FGD3	89846	broad.mit.edu	37	9	95738930	95738930	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:95738930G>T	ENST00000375482.3	+	3	888	c.392G>T	c.(391-393)gGt>gTt	p.G131V	FGD3_ENST00000416701.2_Missense_Mutation_p.G131V|FGD3_ENST00000337352.6_Missense_Mutation_p.G131V|FGD3_ENST00000468206.1_3'UTR	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	131					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGCGACGTGGGTGAGGAACCT	0.682																																						uc004asw.2		NA																	0				ovary(1)|breast(1)	2						c.(391-393)GGT>GTT		FYVE, RhoGEF and PH domain containing 3							22.0	29.0	27.0					9																	95738930		2081	4207	6288	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95738930G>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.392G>T	9.37:g.95738930G>T	ENSP00000364631:p.Gly131Val					FGD3_uc004asx.2_Missense_Mutation_p.G131V|FGD3_uc004asz.2_Missense_Mutation_p.G131V	p.G131V	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			3	1020	+			131					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.392G>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333187	0.41297	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.71934	-0.6;-0.61;-0.6	4.39	3.28	0.37604	.	.	.	.	.	T	0.61337	0.2339	L	0.27053	0.805	0.53688	D	0.999972	D;B	0.54964	0.969;0.212	P;B	0.52159	0.691;0.086	T	0.57946	-0.7723	9	0.37606	T	0.19	.	4.3019	0.10928	0.3371:0.0:0.6629:0.0	.	131;131	F8W7P2;Q5JSP0	.;FGD3_HUMAN	V	131	ENSP00000364631:G131V;ENSP00000413833:G131V;ENSP00000336914:G131V	ENSP00000336914:G131V	G	+	2	0	FGD3	94778751	1.000000	0.71417	0.141000	0.22245	0.194000	0.23727	3.667000	0.54547	0.928000	0.37168	0.591000	0.81541	GGT		0.682	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		23	30	1	0	9.04e-07	1.1e-06	23	30				
CCDC180	100499483	broad.mit.edu	37	9	100092789	100092789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:100092789C>T	ENST00000357054.1	+	32	3498	c.2563C>T	c.(2563-2565)Cag>Tag	p.Q855*	CCDC180_ENST00000411667.2_Nonsense_Mutation_p.Q713*|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.Q716*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Nonsense_Mutation_p.Q716*|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	855	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGTGCTGGGGCAGCAGAAAAA	0.453																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2563-2565)CAG>TAG		hypothetical protein LOC57653							81.0	77.0	78.0					9																	100092789		2203	4300	6503	SO:0001587	stop_gained	57653							g.chr9:100092789C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2563C>T	9.37:g.100092789C>T	ENSP00000349562:p.Gln855*					KIAA1529_uc004axe.1_Nonsense_Mutation_p.Q855*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.Q716*|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Nonsense_Mutation_p.Q40*|KIAA1529_uc011lus.1_Nonsense_Mutation_p.Q673*|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Nonsense_Mutation_p.Q716*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.Q713*	p.Q855*	NM_020893	NP_065944					30	3336	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	ENST00000357054.1	37	c.2563C>T		.	.	.	.	.	.	.	.	.	.	C	48	14.292047	0.99788	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	.	.	.	5.08	5.08	0.68730	.	0.805739	0.10792	N	0.633615	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.132	14.7046	0.69179	0.0:1.0:0.0:0.0	.	.	.	.	X	855;716;713;739;716	.	ENSP00000349562:Q855X	Q	+	1	0	C9orf174	99132610	0.012000	0.17670	0.011000	0.14972	0.155000	0.21991	3.253000	0.51469	2.751000	0.94390	0.555000	0.69702	CAG		0.453	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		10	25	0	0	0	0	10	25				
ZNF462	58499	broad.mit.edu	37	9	109689499	109689499	+	Silent	SNP	A	A	C	rs368008742		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:109689499A>C	ENST00000277225.5	+	3	3595	c.3306A>C	c.(3304-3306)ccA>ccC	p.P1102P	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.P1102P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1102					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACCCCCCCCACAACCCCCGC	0.527																																						uc004bcz.2		NA																	0				ovary(5)	5						c.(3304-3306)CCA>CCC		zinc finger protein 462							27.0	28.0	28.0					9																	109689499		2197	4296	6493	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689499A>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3306A>C	9.37:g.109689499A>C						ZNF462_uc010mto.2_Silent_p.P950P|ZNF462_uc004bda.2_Silent_p.P950P	p.P1102P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	3595	+			1102					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.3306A>C	CCDS35096.1																																																																																				0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		3	23	0	0	0	0	3	23				
CDK5RAP2	55755	broad.mit.edu	37	9	123170649	123170649	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:123170649C>G	ENST00000349780.4	-	31	4881	c.4702G>C	c.(4702-4704)Gat>Cat	p.D1568H	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D1536H|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D1568H|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D1527H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1568					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGCTCTTCATCCAGCTTCTCA	0.557																																						uc004bkf.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(4702-4704)GAT>CAT		CDK5 regulatory subunit associated protein 2							176.0	137.0	151.0					9																	123170649		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123170649C>G	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4702G>C	9.37:g.123170649C>G	ENSP00000343818:p.Asp1568His					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.D577H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.D853H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.D1568H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.D833H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.D833H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.D833H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.D1338H|CDK5RAP2_uc004bki.2_Missense_Mutation_p.D1335H	p.D1568H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			31	4883	-			1568					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.4702G>C	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661251	0.67700	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.61	5.61	0.85477	.	0.404563	0.23549	N	0.046998	T	0.57315	0.2045	L	0.45581	1.43	0.33445	D	0.582959	P;D;D;D;D;P	0.69078	0.846;0.997;0.995;0.985;0.991;0.928	P;D;P;P;P;P	0.63192	0.487;0.912;0.847;0.896;0.707;0.73	T	0.66548	-0.5896	10	0.66056	D	0.02	.	17.8124	0.88620	0.0:1.0:0.0:0.0	.	578;1337;1536;1568;1568;962	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	H	1536;1527;1568;1568;962;578;1340	ENSP00000354065:D1536H;ENSP00000352258:D1527H;ENSP00000343818:D1568H;ENSP00000353317:D1568H;ENSP00000400395:D962H;ENSP00000409941:D578H	ENSP00000341695:D1340H	D	-	1	0	CDK5RAP2	122210470	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	2.343000	0.44001	2.651000	0.90000	0.655000	0.94253	GAT		0.557	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		24	51	0	0	0	0	24	51				
NR5A1	2516	broad.mit.edu	37	9	127253385	127253385	+	Silent	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:127253385G>C	ENST00000373588.4	-	6	1309	c.1113C>G	c.(1111-1113)ctC>ctG	p.L371L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	371	Important for dimerization.				adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						TGATGAACTTGAGGCAGACAA	0.652																																						uc004boo.1		NA																	0					0						c.(1111-1113)CTC>CTG		nuclear receptor subfamily 5, group A, member 1							17.0	18.0	17.0					9																	127253385		2200	4298	6498	SO:0001819	synonymous_variant	2516				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr9:127253385G>C	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"""Nuclear hormone receptors"""	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.1113C>G	9.37:g.127253385G>C							p.L371L	NM_004959	NP_004950	Q13285	STF1_HUMAN			6	1300	-			371			Important for dimerization.		O15196|Q5T6F5	Silent	SNP	ENST00000373588.4	37	c.1113C>G	CCDS6856.1																																																																																				0.652	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959		7	12	0	0	0	0	7	12				
GAPVD1	26130	broad.mit.edu	37	9	128099315	128099315	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr9:128099315C>T	ENST00000495955.1	+	16	2737	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	GAPVD1_ENST00000470056.1_Missense_Mutation_p.S816F|GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S843F|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S816F|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S795F|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S816F|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S795F			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	816					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCTGACCTCTCCTCCTTCT	0.468																																						uc010mwx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2446-2448)TCT>TTT		GTPase activating protein and VPS9 domains 1							98.0	95.0	96.0					9																	128099315		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099315C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2447C>T	9.37:g.128099315C>T	ENSP00000419063:p.Ser816Phe					GAPVD1_uc011lzs.1_Missense_Mutation_p.S816F|GAPVD1_uc004bpp.2_Missense_Mutation_p.S843F|GAPVD1_uc004bpq.2_Missense_Mutation_p.S816F|GAPVD1_uc004bpr.2_Missense_Mutation_p.S795F|GAPVD1_uc004bps.2_Missense_Mutation_p.S816F|GAPVD1_uc010mwy.1_Intron	p.S816F	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			16	2773	+			816					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2447C>T		.	.	.	.	.	.	.	.	.	.	C	18.99	3.740184	0.69304	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.	.	.	6.08	6.08	0.98989	.	0.104097	0.64402	D	0.000002	T	0.51024	0.1650	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P	0.41569	0.61;0.729;0.729;0.729;0.755	B;B;B;B;P	0.44990	0.28;0.351;0.351;0.351;0.466	T	0.53187	-0.8474	9	0.51188	T	0.08	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	816;816;795;816;843	Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.	F	816;843;816;795;816;816;816;795	.	ENSP00000297933:S816F	S	+	2	0	GAPVD1	127139136	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.907000	0.69908	2.894000	0.99253	0.655000	0.94253	TCT		0.468	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			22	31	0	0	0	0	22	31				
PLCXD1	55344	broad.mit.edu	37	X	209702	209702	+	Splice_Site	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:209702G>T	ENST00000381657.2	+	6	1064	c.550G>T	c.(550-552)Gag>Tag	p.E184*	PLCXD1_ENST00000381663.3_Splice_Site_p.E184*|PLCXD1_ENST00000399012.1_Splice_Site_p.E184*	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	184	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCTTTGCAGGAGGTGCCGAC	0.667																																						uc004cpc.2		NA																	0					0						c.(550-552)GAG>TAG		phosphatidylinositol-specific phospholipase C, X							41.0	42.0	42.0					X																	209702		2203	4296	6499	SO:0001630	splice_region_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:209702G>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.550-1G>T	X.37:g.209702G>T						PLCXD1_uc011mgx.1_RNA	p.E184*	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN			6	862	+		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)	184			PI-PLC X-box.		A2BH51|A2BH52	Nonsense_Mutation	SNP	ENST00000381657.2	37	c.550G>T	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	17.25	3.341236	0.60963	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	.	.	.	1.26	1.26	0.21427	.	0.339386	0.29638	N	0.011587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.4978	8.0738	0.30704	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	.	E	+	1	0	PLCXD1	149702	1.000000	0.71417	0.399000	0.26333	0.324000	0.28378	5.722000	0.68485	0.666000	0.31087	0.394000	0.25966	GAG		0.667	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390	Nonsense_Mutation	8	35	1	0	5.18e-06	6.18e-06	8	35				
PIGA	5277	broad.mit.edu	37	X	15344163	15344163	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:15344163C>T	ENST00000333590.4	-	3	805	c.721G>A	c.(721-723)Gat>Aat	p.D241N	PIGA_ENST00000428964.1_5'UTR|PIGA_ENST00000542278.1_Missense_Mutation_p.D7N|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	241					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CTAAGCAAATCGATCCCTGAA	0.303																																						uc004cwr.2		NA																	0					0						c.(721-723)GAT>AAT		phosphatidylinositol							76.0	78.0	77.0					X																	15344163		2203	4300	6503	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15344163C>T	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.721G>A	X.37:g.15344163C>T	ENSP00000369820:p.Asp241Asn					PIGA_uc010neu.2_5'Flank|PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_5'UTR|PIGA_uc011miq.1_Missense_Mutation_p.D7N|PIGA_uc010new.1_Missense_Mutation_p.R116Q	p.D241N	NM_002641	NP_002632	P37287	PIGA_HUMAN			3	821	-	Hepatocellular(33;0.183)		241			Cytoplasmic (Potential).		B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.721G>A	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171273	0.94807	.	.	ENSG00000165195	ENST00000542278;ENST00000333590	D;T	0.82711	-1.64;-1.39	6.17	6.17	0.99709	Glycosyl transferase, family 1 (1);	0.040632	0.85682	D	0.000000	D	0.93517	0.7931	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70487	0.969;0.895	D	0.94185	0.7435	10	0.56958	D	0.05	-14.2607	18.5888	0.91200	0.0:1.0:0.0:0.0	.	7;241	B4E0V2;P37287	.;PIGA_HUMAN	N	7;241	ENSP00000442653:D7N;ENSP00000369820:D241N	ENSP00000369820:D241N	D	-	1	0	PIGA	15254084	1.000000	0.71417	0.982000	0.44146	0.879000	0.50718	7.263000	0.78421	2.618000	0.88619	0.600000	0.82982	GAT		0.303	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		24	32	0	0	0	0	24	32				
YY2	404281	broad.mit.edu	37	X	21875522	21875522	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:21875522G>T	ENST00000429584.2	+	1	1418	c.920G>T	c.(919-921)gGc>gTc	p.G307V	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	307	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GTCCACACCGGCGAGAAGCCC	0.547																																						uc011mjp.1		NA																	0				breast(1)|skin(1)	2						c.(919-921)GGC>GTC		YY2 transcription factor							175.0	173.0	174.0					X																	21875522		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875522G>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.920G>T	X.37:g.21875522G>T	ENSP00000389381:p.Gly307Val					MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.G525V|MBTPS2_uc004dab.2_Intron	p.G307V	NM_206923	NP_996806	O15391	TYY2_HUMAN			1	920	+			307			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.920G>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004170	0.54254	.	.	ENSG00000230797	ENST00000429584	T	0.26373	1.74	4.6	4.6	0.57074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.54615	0.1869	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62595	-0.6821	10	0.87932	D	0	.	14.034	0.64634	0.0:0.0:1.0:0.0	.	307	O15391	TYY2_HUMAN	V	307	ENSP00000389381:G307V	ENSP00000389381:G307V	G	+	2	0	YY2	21785443	1.000000	0.71417	0.972000	0.41901	0.021000	0.10359	9.657000	0.98554	2.276000	0.75962	0.544000	0.68410	GGC		0.547	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		90	84	1	0	2.62e-60	4.01e-60	90	84				
FAM47A	158724	broad.mit.edu	37	X	34149264	34149264	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:34149264C>T	ENST00000346193.3	-	1	1183	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	378								p.E378*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCTCCGCGTGGAGA	0.637																																						uc004ddg.2		NA																	1	Substitution - Nonsense(1)		endometrium(1)	ovary(4)|central_nervous_system(1)	5						c.(1132-1134)GAG>AAG		hypothetical protein LOC158724							37.0	38.0	38.0					X																	34149264		2201	4299	6500	SO:0001583	missense	158724							g.chrX:34149264C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1132G>A	X.37:g.34149264C>T	ENSP00000345029:p.Glu378Lys						p.E378K	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1165	-			378					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1132G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	14.01	2.407631	0.42715	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.226	0.226	0.15353	.	.	.	.	.	T	0.27384	0.0672	M	0.64404	1.975	0.19775	N	0.999952	D	0.54207	0.965	P	0.52343	0.696	T	0.19289	-1.0310	8	0.22109	T	0.4	.	.	.	.	.	378	Q5JRC9	FA47A_HUMAN	K	378	ENSP00000345029:E378K	ENSP00000345029:E378K	E	-	1	0	FAM47A	34059185	0.644000	0.27277	0.004000	0.12327	0.004000	0.04260	0.694000	0.25512	0.283000	0.22279	0.287000	0.19450	GAG		0.637	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		32	26	0	0	0	0	32	26				
USP9X	8239	broad.mit.edu	37	X	41077827	41077827	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:41077827G>A	ENST00000324545.8	+	37	7045	c.6412G>A	c.(6412-6414)Gcc>Acc	p.A2138T	USP9X_ENST00000378308.2_Missense_Mutation_p.A2138T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2138					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCACCTTTTGCCTCTCCTGG	0.428																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(6412-6414)GCC>ACC		ubiquitin specific protease 9, X-linked isoform							195.0	166.0	176.0					X																	41077827		2202	4300	6502	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41077827G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6412G>A	X.37:g.41077827G>A	ENSP00000316357:p.Ala2138Thr					USP9X_uc004dfc.2_Missense_Mutation_p.A2138T	p.A2138T	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			37	7045	+			2138					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.6412G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853047	0.71719	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02916	4.12;4.11	5.8	5.8	0.92144	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.03348	0.0097	L	0.29908	0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.52823	-0.8524	10	0.12430	T	0.62	.	19.0277	0.92939	0.0:0.0:1.0:0.0	.	2138;2138	Q93008-1;Q93008	.;USP9X_HUMAN	T	2138	ENSP00000367558:A2138T;ENSP00000316357:A2138T	ENSP00000316357:A2138T	A	+	1	0	USP9X	40962771	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.632000	0.83247	2.442000	0.82660	0.513000	0.50165	GCC		0.428	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		39	26	0	0	0	0	39	26				
ZMYM3	9203	broad.mit.edu	37	X	70463741	70463741	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:70463741G>A	ENST00000353904.2	-	21	3557	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1112W|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1124W|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1119W|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1126W|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1124					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCATTGGGCCGAGTGATTTCT	0.493																																						uc004dzh.1		NA																	0				ovary(1)	1						c.(3370-3372)CGG>TGG		zinc finger protein 261							204.0	141.0	163.0					X																	70463741		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70463741G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3370C>T	X.37:g.70463741G>A	ENSP00000343909:p.Arg1124Trp					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.R1124W|ZMYM3_uc004dzj.1_Missense_Mutation_p.R1112W	p.R1124W	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			21	3457	-	Renal(35;0.156)		1124					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3370C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	19.55	3.848027	0.71603	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.57752	0.99;0.38;0.99;1.04;1.0	5.31	4.43	0.53597	.	0.000000	0.64402	D	0.000015	T	0.66297	0.2775	L	0.57536	1.79	0.42217	D	0.991836	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.68622	-0.5360	10	0.87932	D	0	-5.3983	10.1213	0.42623	0.0:0.145:0.7014:0.1537	.	1112;1124	Q14202-2;Q14202	.;ZMYM3_HUMAN	W	1124;1112;1124;1119;1126	ENSP00000322845:R1124W;ENSP00000363110:R1112W;ENSP00000343909:R1124W;ENSP00000363096:R1119W;ENSP00000363100:R1126W	ENSP00000322845:R1124W	R	-	1	2	ZMYM3	70380466	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.171000	0.50824	1.183000	0.42943	0.529000	0.55759	CGG		0.493	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		28	20	0	0	0	0	28	20				
NONO	4841	broad.mit.edu	37	X	70514351	70514351	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:70514351G>A	ENST00000276079.8	+	5	828	c.623G>A	c.(622-624)tGc>tAc	p.C208Y	NONO_ENST00000373841.1_Missense_Mutation_p.C208Y|NONO_ENST00000535149.1_Missense_Mutation_p.C119Y|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.C208Y	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	208	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTGGACAGATGCAGTGAAGGC	0.502			T	TFE3	papillary renal cancer																																	uc004dzo.2		NA		Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				ovary(2)|kidney(2)	4						c.(622-624)TGC>TAC		non-POU domain containing, octamer-binding							46.0	40.0	42.0					X																	70514351		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514351G>A	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.623G>A	X.37:g.70514351G>A	ENSP00000276079:p.Cys208Tyr					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.C208Y|NONO_uc004dzp.2_Missense_Mutation_p.C208Y|NONO_uc011mpv.1_Missense_Mutation_p.C119Y|NONO_uc004dzq.2_Missense_Mutation_p.C77Y	p.C208Y	NM_001145408	NP_001138880	Q15233	NONO_HUMAN			6	1333	+	Renal(35;0.156)		208			RRM 2.|DBHS.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.623G>A	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.75|18.75	3.689986|3.689986	0.68271|0.68271	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000418921|ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	.|T;T;T;T	.|0.15603	.|2.41;2.41;2.41;2.41	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22399|0.22399	0.0540|0.0540	L|L	0.38649|0.38649	1.16|1.16	0.80722|0.80722	D|D	1|1	.|P	.|0.37548	.|0.599	.|B	.|0.44224	.|0.444	T|T	0.03175|0.03175	-1.1064|-1.1064	5|10	.|0.87932	.|D	.|0	-7.2378|-7.2378	17.3063|17.3063	0.87196|0.87196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|208	.|Q15233	.|NONO_HUMAN	T|Y	70|119;208;208;208	.|ENSP00000441364:C119Y;ENSP00000276079:C208Y;ENSP00000362963:C208Y;ENSP00000362947:C208Y	.|ENSP00000276079:C208Y	A|C	+|+	1|2	0|0	NONO|NONO	70431076|70431076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.432000|9.432000	0.97498|0.97498	2.269000|2.269000	0.75478|0.75478	0.529000|0.529000	0.55759|0.55759	GCA|TGC		0.502	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		6	6	0	0	0	0	6	6				
DACH2	117154	broad.mit.edu	37	X	85950137	85950137	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:85950137G>T	ENST00000373125.4	+	5	886	c.886G>T	c.(886-888)Gct>Tct	p.A296S	DACH2_ENST00000508860.1_Missense_Mutation_p.A129S|DACH2_ENST00000510272.1_Missense_Mutation_p.A77S|DACH2_ENST00000373131.1_Missense_Mutation_p.A283S	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	296					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CATTGGGGGTGCTCCAACCCT	0.498																																						uc004eew.2		NA																	0		p.A296A(1)		ovary(4)|pancreas(1)	5						c.(886-888)GCT>TCT		dachshund 2 isoform a							64.0	47.0	53.0					X																	85950137		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85950137G>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.886G>T	X.37:g.85950137G>T	ENSP00000362217:p.Ala296Ser					DACH2_uc004eex.2_Missense_Mutation_p.A283S|DACH2_uc010nmq.2_Missense_Mutation_p.A162S|DACH2_uc011mra.1_Missense_Mutation_p.A129S|DACH2_uc010nmr.2_Missense_Mutation_p.A77S	p.A296S	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			5	1056	+			296					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.886G>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.333800	0.01298	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.82255	-1.59;-1.59	4.99	0.164	0.14990	.	0.399373	0.23832	N	0.044125	T	0.60728	0.2291	N	0.08118	0	0.23186	N	0.998157	B;B;B	0.18741	0.03;0.022;0.006	B;B;B	0.18871	0.012;0.023;0.005	T	0.45833	-0.9234	10	0.11182	T	0.66	.	9.2007	0.37256	0.3833:0.0:0.6167:0.0	.	162;283;296	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	S	296;283;296;129;77;129	ENSP00000362223:A283S;ENSP00000362217:A296S	ENSP00000345134:A296S	A	+	1	0	DACH2	85836793	1.000000	0.71417	0.009000	0.14445	0.004000	0.04260	1.790000	0.38734	-0.181000	0.10619	-0.329000	0.08387	GCT		0.498	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		8	4	1	0	5.18e-06	6.18e-06	8	4				
KLHL4	56062	broad.mit.edu	37	X	86773057	86773057	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:86773057G>T	ENST00000373119.4	+	1	306	c.161G>T	c.(160-162)aGc>aTc	p.S54I	KLHL4_ENST00000373114.4_Missense_Mutation_p.S54I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	54						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGTTGAAGAGCCACTCTCGG	0.542																																						uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(160-162)AGC>ATC		kelch-like 4 isoform 1							79.0	67.0	71.0					X																	86773057		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86773057G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.161G>T	X.37:g.86773057G>T	ENSP00000362211:p.Ser54Ile					KLHL4_uc004efa.2_Missense_Mutation_p.S54I	p.S54I	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			1	343	+			54					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.161G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901379	0.33535	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.77750	-1.12;-1.09	5.05	-1.8	0.07907	.	1.460480	0.04182	N	0.326704	T	0.73528	0.3598	L	0.53249	1.67	0.41145	D	0.985983	B;B	0.29590	0.25;0.068	B;B	0.32022	0.082;0.139	T	0.59478	-0.7447	10	0.87932	D	0	.	7.5338	0.27697	0.3559:0.1302:0.5139:0.0	.	54;54	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	I	54	ENSP00000362211:S54I;ENSP00000362206:S54I	ENSP00000362206:S54I	S	+	2	0	KLHL4	86659713	1.000000	0.71417	0.982000	0.44146	0.854000	0.48673	1.606000	0.36826	-0.420000	0.07427	-0.503000	0.04515	AGC		0.542	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			23	13	1	0	5.45e-15	7.64e-15	23	13				
GPRASP1	9737	broad.mit.edu	37	X	101911283	101911283	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:101911283G>C	ENST00000361600.5	+	5	3243	c.2442G>C	c.(2440-2442)tgG>tgC	p.W814C	GPRASP1_ENST00000537097.1_Missense_Mutation_p.W814C|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W814C|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W814C|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	814	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGGGTCCTGGTTTGGGGCCA	0.502																																						uc004ejj.3		NA																	0				ovary(1)|lung(1)	2						c.(2440-2442)TGG>TGC		G protein-coupled receptor associated sorting							117.0	121.0	119.0					X																	101911283		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911283G>C	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2442G>C	X.37:g.101911283G>C	ENSP00000355146:p.Trp814Cys					GPRASP1_uc004eji.3_Missense_Mutation_p.W814C|GPRASP1_uc010nod.2_Missense_Mutation_p.W814C	p.W814C	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3243	+			814			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2442G>C	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	6.370	0.436381	0.12104	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	2.99	2.09	0.27110	.	.	.	.	.	T	0.24699	0.0599	M	0.62723	1.935	0.38444	D	0.946775	D	0.76494	0.999	D	0.73708	0.981	T	0.02081	-1.1217	9	0.48119	T	0.1	-2.2888	8.5006	0.33156	0.0:0.0:0.7669:0.2331	.	814	Q5JY77	GASP1_HUMAN	C	814	ENSP00000393691:W814C;ENSP00000409420:W814C;ENSP00000355146:W814C;ENSP00000445683:W814C	ENSP00000355146:W814C	W	+	3	0	GPRASP1	101797939	0.887000	0.30362	0.722000	0.30670	0.243000	0.25628	2.125000	0.42016	0.626000	0.30322	0.292000	0.19580	TGG		0.502	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		56	51	0	0	0	0	56	51				
DCX	1641	broad.mit.edu	37	X	110644424	110644424	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:110644424T>C	ENST00000338081.3	-	3	913	c.742A>G	c.(742-744)Agt>Ggt	p.S248G	DCX_ENST00000371993.2_Missense_Mutation_p.S167G|DCX_ENST00000356915.2_Missense_Mutation_p.S167G|DCX_ENST00000488120.1_Missense_Mutation_p.S167G|DCX_ENST00000356220.3_Missense_Mutation_p.S167G|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	248					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.S167C(1)|p.S248C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCCTGTGCACTGTTGCTGCTA	0.522																																						uc004epd.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(742-744)AGT>GGT		doublecortin isoform a							128.0	109.0	115.0					X																	110644424		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644424T>C	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.742A>G	X.37:g.110644424T>C	ENSP00000337697:p.Ser248Gly					DCX_uc011msv.1_Missense_Mutation_p.S248G|DCX_uc004epe.2_Missense_Mutation_p.S167G|DCX_uc004epf.2_Missense_Mutation_p.S167G|DCX_uc004epg.2_Missense_Mutation_p.S167G	p.S248G	NM_000555	NP_000546	O43602	DCX_HUMAN			3	914	-			248					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.742A>G	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471487	0.26423	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	T;T;T;T;T	0.24723	1.87;1.87;1.84;1.87;1.87	4.74	4.74	0.60224	.	0.595996	0.19230	N	0.119438	T	0.12646	0.0307	N	0.03608	-0.345	0.44492	D	0.997431	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10497	-1.0627	10	0.27785	T	0.31	.	13.9428	0.64066	0.0:0.0:0.0:1.0	.	236;248	B4DM53;O43602	.;DCX_HUMAN	G	167;167;248;167;167	ENSP00000349385:S167G;ENSP00000361061:S167G;ENSP00000337697:S248G;ENSP00000348553:S167G;ENSP00000419861:S167G	ENSP00000337697:S248G	S	-	1	0	DCX	110531080	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.600000	0.54052	1.826000	0.53198	0.486000	0.48141	AGT		0.522	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		37	26	0	0	0	0	37	26				
THOC2	57187	broad.mit.edu	37	X	122802034	122802034	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:122802034T>A	ENST00000245838.8	-	10	1024	c.993A>T	c.(991-993)gaA>gaT	p.E331D	THOC2_ENST00000491737.1_Missense_Mutation_p.E216D|THOC2_ENST00000355725.4_Missense_Mutation_p.E331D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	331					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						cctcttctttttccttttctt	0.313																																						uc004etu.2		NA																	0				ovary(3)	3						c.(991-993)GAA>GAT		THO complex 2							156.0	138.0	143.0					X																	122802034		1808	4069	5877	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122802034T>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.993A>T	X.37:g.122802034T>A	ENSP00000245838:p.Glu331Asp					THOC2_uc011muh.1_Missense_Mutation_p.E252D|THOC2_uc011mui.1_Missense_Mutation_p.E216D	p.E331D	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			10	1025	-			331			Potential.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.993A>T	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	7.555	0.663447	0.14710	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.38	0.266	0.15617	.	0.265062	0.30791	N	0.008879	T	0.23370	0.0565	N	0.12746	0.255	0.39660	D	0.970599	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.04885	-1.0920	9	0.13853	T	0.58	-6.7163	2.0185	0.03504	0.1312:0.1496:0.1335:0.5856	.	252;331	B4DKZ6;Q8NI27	.;THOC2_HUMAN	D	331;331;216;252	.	ENSP00000245838:E331D	E	-	3	2	THOC2	122629715	0.998000	0.40836	0.998000	0.56505	0.347000	0.29111	0.396000	0.20867	-0.065000	0.13021	-0.335000	0.08231	GAA		0.313	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			41	29	0	0	0	0	41	29				
BCORL1	63035	broad.mit.edu	37	X	129149413	129149413	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:129149413C>T	ENST00000218147.7	+	4	2862	c.2665C>T	c.(2665-2667)Cca>Tca	p.P889S	BCORL1_ENST00000540052.1_Missense_Mutation_p.P889S|BCORL1_ENST00000303743.5_Missense_Mutation_p.P889S|BCORL1_ENST00000359304.2_Missense_Mutation_p.P889S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	889					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGGGGCAACCACGGCCTGG	0.572																																						uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(2665-2667)CCA>TCA		BCL6 co-repressor-like 1							47.0	45.0	46.0					X																	129149413		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149413C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2665C>T	X.37:g.129149413C>T	ENSP00000218147:p.Pro889Ser					BCORL1_uc010nrd.1_Missense_Mutation_p.P791S	p.P889S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2779	+			889					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2665C>T	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.87|13.87	2.364840|2.364840	0.41902|0.41902	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.45276|.	0.9;1.3;0.9;0.9;1.38|.	5.31|5.31	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.36374|.	N|.	0.002634|.	T|T	0.29850|0.29850	0.0746|0.0746	N|N	0.24115|0.24115	0.695|0.695	0.29368|0.29368	N|N	0.864178|0.864178	D;D|.	0.67145|.	0.996;0.979|.	D;P|.	0.64144|.	0.922;0.702|.	T|T	0.21484|0.21484	-1.0244|-1.0244	10|5	0.45353|.	T|.	0.12|.	-3.5957|-3.5957	7.1112|7.1112	0.25390|0.25390	0.1694:0.7403:0.0:0.0902|0.1694:0.7403:0.0:0.0902	.|.	889;889|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	S|I	889;889;889;889;489|324	ENSP00000218147:P889S;ENSP00000307541:P889S;ENSP00000352253:P889S;ENSP00000437775:P889S;ENSP00000399483:P489S|.	ENSP00000218147:P889S|.	P|T	+|+	1|2	0|0	BCORL1|BCORL1	128977094|128977094	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.965000|0.965000	0.64279|0.64279	3.220000|3.220000	0.51207|0.51207	1.018000|1.018000	0.39521|0.39521	0.529000|0.529000	0.55759|0.55759	CCA|ACC		0.572	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		19	25	0	0	0	0	19	25				
GPR101	83550	broad.mit.edu	37	X	136113046	136113046	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:136113046C>T	ENST00000298110.1	-	1	787	c.788G>A	c.(787-789)cGc>cAc	p.R263H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATGCTGGCGGCGAAACTCACT	0.557																																						uc011mwh.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(787-789)CGC>CAC		G protein-coupled receptor 101							163.0	127.0	139.0					X																	136113046		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113046C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.788G>A	X.37:g.136113046C>T	ENSP00000298110:p.Arg263His						p.R263H	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	788	-	Acute lymphoblastic leukemia(192;0.000127)		263			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.788G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.512238	0.00153	.	.	ENSG00000165370	ENST00000298110	T	0.64260	-0.09	3.54	0.942	0.19525	GPCR, rhodopsin-like superfamily (1);	1.591970	0.04335	N	0.353139	T	0.32376	0.0827	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18241	-1.0343	10	0.38643	T	0.18	0.4521	4.6977	0.12811	0.0:0.2883:0.0:0.7117	.	263	Q96P66	GP101_HUMAN	H	263	ENSP00000298110:R263H	ENSP00000298110:R263H	R	-	2	0	GPR101	135940712	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.327000	0.19663	0.120000	0.18254	-0.354000	0.07668	CGC		0.557	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			58	55	0	0	0	0	58	55				
SLITRK4	139065	broad.mit.edu	37	X	142717001	142717001	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:142717001C>A	ENST00000381779.4	-	2	2149	c.1924G>T	c.(1924-1926)Gtc>Ttc	p.V642F	SLITRK4_ENST00000338017.4_Missense_Mutation_p.V642F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.V642F	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	642						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CGTCGCAGGACAAAAACAAGA	0.478																																						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1924-1926)GTC>TTC		slit and trk like 4 protein precursor							93.0	93.0	93.0					X																	142717001		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717001C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1924G>T	X.37:g.142717001C>A	ENSP00000371198:p.Val642Phe					SLITRK4_uc004fby.2_Missense_Mutation_p.V642F	p.V642F	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2300	-	Acute lymphoblastic leukemia(192;6.56e-05)		642			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1924G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069131	0.76301	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.60797	0.16;0.16;0.16	5.36	5.36	0.76844	.	0.000000	0.85682	U	0.000000	T	0.73992	0.3658	M	0.65975	2.015	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.76356	-0.2989	10	0.59425	D	0.04	-8.1647	16.5642	0.84574	0.0:1.0:0.0:0.0	.	642	Q8IW52	SLIK4_HUMAN	F	642	ENSP00000371198:V642F;ENSP00000349400:V642F;ENSP00000336627:V642F	ENSP00000336627:V642F	V	-	1	0	SLITRK4	142544667	1.000000	0.71417	0.967000	0.41034	0.986000	0.74619	6.089000	0.71384	2.224000	0.72417	0.513000	0.50165	GTC		0.478	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		53	28	1	0	9.58e-29	1.43e-28	53	28				
MAGEA10	4109	broad.mit.edu	37	X	151304000	151304000	+	Silent	SNP	G	G	A			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:151304000G>A	ENST00000370323.4	-	4	409	c.93C>T	c.(91-93)ccC>ccT	p.P31P	MAGEA10_ENST00000244096.3_Silent_p.P31P|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	31						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGCCAGGGGAGCCTGTG	0.562																																						uc004ffk.2		NA																	0					0						c.(91-93)CCC>CCT		melanoma antigen family A, 10							56.0	61.0	59.0					X																	151304000		2203	4298	6501	SO:0001819	synonymous_variant	4109							g.chrX:151304000G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.93C>T	X.37:g.151304000G>A						MAGEA10_uc004ffl.2_Silent_p.P31P	p.P31P	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	501	-	Acute lymphoblastic leukemia(192;6.56e-05)		31						Silent	SNP	ENST00000370323.4	37	c.93C>T	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		34	20	0	0	0	0	34	20				
IL9R	3581	broad.mit.edu	37	X	155235022	155235022	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:155235022A>T	ENST00000244174.5	+	6	838	c.659A>T	c.(658-660)cAt>cTt	p.H220L	IL9R_ENST00000540897.1_Missense_Mutation_p.H245L|IL9R_ENST00000424344.3_Missense_Mutation_p.H199L|IL9R_ENST00000369423.2_Missense_Mutation_p.H255L	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	220	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTTTATCCATGAGGCCAGG	0.582																																						uc004fnv.1		NA																	0					0						c.(658-660)CAT>CTT		interleukin 9 receptor precursor							119.0	107.0	111.0					X																	155235022		2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155235022A>T	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.659A>T	X.37:g.155235022A>T	ENSP00000244174:p.His220Leu					IL9R_uc010nvn.2_Missense_Mutation_p.H199L|IL9R_uc004fnu.1_Missense_Mutation_p.H255L	p.H220L	NM_002186	NP_002177	Q01113	IL9R_HUMAN			6	838	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		220			Extracellular (Potential).|Fibronectin type-III.		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.659A>T	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	7.111	0.576112	0.13623	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	1.29	0.00961	0.14080	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.322265	0.30168	N	0.010257	T	0.47021	0.1423	.	.	.	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33471	-0.9867	9	0.56958	D	0.05	-3.6243	3.3073	0.07005	0.636:0.0:0.0:0.364	.	199;220;255	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	L	220;199;199;255;245	ENSP00000244174:H220L;ENSP00000388918:H199L;ENSP00000358431:H255L;ENSP00000438112:H245L	ENSP00000244174:H220L	H	+	2	0	IL9R	154888216	0.442000	0.25633	0.271000	0.24616	0.578000	0.36192	0.525000	0.22956	-0.063000	0.13065	-1.801000	0.00618	CAT		0.582	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		52	55	0	0	0	0	52	55				
PTPRU	10076	broad.mit.edu	37	1	29611279	29611279	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:29611279delC	ENST00000345512.3	+	14	2345	c.2216delC	c.(2215-2217)tccfs	p.S739fs	PTPRU_ENST00000373779.3_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000356870.3_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000460170.2_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000428026.2_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000323874.8_Frame_Shift_Del_p.S739fs|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	739					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGGAGGTGTCCCAGAGATCG	0.577																																						uc001bru.2		NA																	0				large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(2215-2217)TCCfs		protein tyrosine phosphatase, receptor type, U							84.0	83.0	84.0					1																	29611279		2203	4300	6503	SO:0001589	frameshift_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29611279delC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2216delC	1.37:g.29611279delC	ENSP00000334941:p.Ser739fs					PTPRU_uc001brv.2_Frame_Shift_Del_p.S739fs|PTPRU_uc001brw.2_Frame_Shift_Del_p.S739fs|PTPRU_uc009vtq.2_Frame_Shift_Del_p.S739fs|PTPRU_uc009vtr.2_Frame_Shift_Del_p.S739fs	p.S739fs	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	14	2326	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	739			Extracellular (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Frame_Shift_Del	DEL	ENST00000345512.3	37	c.2216delC	CCDS334.1																																																																																				0.577	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			26	86	NA	NA	NA	NA	26	86	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169582838	169582838	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr1:169582838delG	ENST00000263686.6	-	4	612	c.575delC	c.(574-576)ccafs	p.P192fs	SELP_ENST00000367794.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367791.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367792.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000458599.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367788.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367786.2_Frame_Shift_Del_p.P192fs|SELP_ENST00000367793.2_Frame_Shift_Del_p.P192fs	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	192	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTCACATTCTGGCCCATAGAA	0.453																																						uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(574-576)CCAfs		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						122.0	106.0	112.0					1																	169582838		2203	4300	6503	SO:0001589	frameshift_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169582838delG	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.575delC	1.37:g.169582838delG	ENSP00000263686:p.Pro192fs					SELP_uc001ggh.2_Frame_Shift_Del_p.P27fs|SELP_uc009wvr.2_Frame_Shift_Del_p.P192fs	p.P192fs	NM_003005	NP_002996	P16109	LYAM3_HUMAN			4	640	-	all_hematologic(923;0.208)		192			Extracellular (Potential).|EGF-like.		Q5R344|Q8IVD1	Frame_Shift_Del	DEL	ENST00000263686.6	37	c.575delC	CCDS1282.1																																																																																				0.453	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		20	65	NA	NA	NA	NA	20	65	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56128025	56128025	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr11:56128025delG	ENST00000303039.3	+	1	335	c.303delG	c.(301-303)ctgfs	p.L101fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CCACCCAACTGGGAGGGTTCT	0.413																																						uc010rjh.1		NA																	0				ovary(2)	2						c.(301-303)CTGfs		olfactory receptor, family 8, subfamily J,							143.0	135.0	137.0					11																	56128025		2201	4296	6497	SO:0001589	frameshift_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128025delG	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.303delG	11.37:g.56128025delG	ENSP00000304060:p.Leu101fs						p.L101fs	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	303	+	Esophageal squamous(21;0.00448)		101			Helical; Name=3; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Frame_Shift_Del	DEL	ENST00000303039.3	37	c.303delG	CCDS31529.1																																																																																				0.413	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		38	89	NA	NA	NA	NA	38	89	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7639140	7639141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr12:7639140_7639141insC	ENST00000359156.4	-	10	2614_2615	c.2412_2413insG	c.(2410-2415)gggcagfs	p.Q805fs	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Frame_Shift_Ins_p.Q805fs|CD163_ENST00000541972.1_Frame_Shift_Ins_p.Q793fs|CD163_ENST00000396620.3_Frame_Shift_Ins_p.Q838fs	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	805	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAATTTTGCTGCCCCCAGCCGT	0.48																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(2410-2415)GGGCAGfs		CD163 antigen isoform a																																				SO:0001589	frameshift_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639140_7639141insC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2413dupG	12.37:g.7639145_7639145dupC	ENSP00000352071:p.Gln805fs					CD163_uc001qta.3_Frame_Shift_Ins_p.G804fs|CD163_uc009zfw.2_Frame_Shift_Ins_p.G837fs	p.G804fs	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			10	2540_2541	-			804_805			SRCR 7.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Frame_Shift_Ins	INS	ENST00000359156.4	37	c.2412_2413insG	CCDS8578.1																																																																																				0.480	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		57	214	NA	NA	NA	NA	57	214	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53421350	53421351	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr13:53421350_53421351delCG	ENST00000377942.3	-	1	1424_1425	c.1221_1222delCG	c.(1219-1224)cgcgagfs	p.E408fs	PCDH8_ENST00000338862.4_Frame_Shift_Del_p.E408fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		ACCAGGCTCTCGCGCGCCGCCC	0.757																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(1219-1224)CGCGAGfs		protocadherin 8 isoform 1 precursor																																				SO:0001589	frameshift_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421350_53421351delCG	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1221_1222delCG	13.37:g.53421354_53421355delCG	ENSP00000367177:p.Glu408fs					PCDH8_uc001vhj.2_Frame_Shift_Del_p.R407fs	p.R407fs	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1424_1425	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	407_408			Extracellular (Potential).|Cadherin 4.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Frame_Shift_Del	DEL	ENST00000377942.3	37	c.1221_1222delCG	CCDS9438.1																																																																																				0.757	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		4	9	NA	NA	NA	NA	4	9	---	---	---	---
MTA1	9112	broad.mit.edu	37	14	105920619	105920619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr14:105920619delG	ENST00000331320.7	+	7	736	c.522delG	c.(520-522)cagfs	p.Q174fs	MTA1_ENST00000406191.1_Frame_Shift_Del_p.Q174fs|MTA1_ENST00000405646.1_Frame_Shift_Del_p.Q157fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	174	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		ACCGGTACCAGGCAGACATCA	0.542																																						uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(520-522)CAGfs		metastasis associated protein							77.0	75.0	76.0					14																	105920619		2202	4299	6501	SO:0001589	frameshift_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105920619delG	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.522delG	14.37:g.105920619delG	ENSP00000333633:p.Gln174fs					MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Frame_Shift_Del_p.Q88fs|MTA1_uc001yra.1_Frame_Shift_Del_p.Q88fs	p.Q174fs	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	7	709	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	174			ELM2.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Frame_Shift_Del	DEL	ENST00000331320.7	37	c.522delG	CCDS32169.1																																																																																				0.542	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			14	45	NA	NA	NA	NA	14	45	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579433	7579433	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr17:7579433delG	ENST00000269305.4	-	4	443	c.254delC	c.(253-255)cctfs	p.P85fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P85fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P85fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P85fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P85fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P85fs|TP53_ENST00000574684.1_5'Flank	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	85	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A86fs*59(1)|p.P85fs*63(1)|p.P85fs*58(1)|p.D48fs*55(1)|p.A86fs*32(1)|p.P85fs*59(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P85L(1)|p.A83fs*35(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)	GGCTGGTGCAGGGGCCGCCGG	0.622		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		26	Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(4)|Substitution - Missense(1)	p.0?(7)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P85S(2)|p.V73fs*9(1)|p.A86fs*59(1)|p.P85fs*63(1)|p.P85fs*58(1)|p.D48fs*55(1)|p.A86fs*32(1)|p.P85fs*59(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P85L(1)|p.A83fs*35(1)	upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|lung(3)|central_nervous_system(2)|breast(2)|ovary(2)|stomach(1)|skin(1)|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						c.(253-255)CCTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	56.0	54.0					17																	7579433		2201	4299	6500	SO:0001589	frameshift_variant	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.chr17:7579433delG	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.254delC	17.37:g.7579433delG	ENSP00000269305:p.Pro85fs	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_Frame_Shift_Del_p.P85fs|TP53_uc002gih.2_Frame_Shift_Del_p.P85fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P85fs|TP53_uc010cni.1_Frame_Shift_Del_p.P85fs|TP53_uc002gij.2_Frame_Shift_Del_p.P85fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P46fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P100fs	p.P85fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	448	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	85		P -> S (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).	Interaction with WWOX.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.254delC	CCDS11118.1																																																																																				0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	57	NA	NA	NA	NA	40	57	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327872	57327872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr19:57327872delC	ENST00000326441.9	-	10	2301	c.1938delG	c.(1936-1938)cagfs	p.Q646fs	PEG3_ENST00000593695.1_Frame_Shift_Del_p.Q520fs|PEG3_ENST00000598410.1_Frame_Shift_Del_p.Q522fs|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.Q646fs|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	646					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGGATTTTCTGATGTTCTT	0.398																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1936-1938)CAGfs		paternally expressed 3 isoform 1							104.0	104.0	104.0					19																	57327872		2203	4300	6503	SO:0001589	frameshift_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327872delC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1938delG	19.37:g.57327872delC	ENSP00000326581:p.Gln646fs					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Frame_Shift_Del_p.Q617fs|PEG3_uc002qnv.2_Frame_Shift_Del_p.Q646fs|PEG3_uc002qnw.2_Frame_Shift_Del_p.Q522fs|PEG3_uc002qnx.2_Frame_Shift_Del_p.Q520fs|PEG3_uc010etr.2_Frame_Shift_Del_p.Q646fs	p.Q646fs	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2289	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	646			C2H2-type 4.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Frame_Shift_Del	DEL	ENST00000326441.9	37	c.1938delG	CCDS12948.1																																																																																				0.398	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			31	100	NA	NA	NA	NA	31	100	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99013410	99013410	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:99013410delG	ENST00000272602.2	+	7	1816	c.1777delG	c.(1777-1779)gaafs	p.E593fs	CNGA3_ENST00000393504.1_Frame_Shift_Del_p.E593fs|CNGA3_ENST00000436404.2_Frame_Shift_Del_p.E575fs|CNGA3_ENST00000409937.1_Frame_Shift_Del_p.E597fs			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	593			E -> K (in ACHM2). {ECO:0000269|PubMed:11536077}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CGAGTACCCCGAAGCCAAGAA	0.612																																						uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6	GRCh37	CM014561	CNGA3	M		c.(1777-1779)GAAfs		cyclic nucleotide gated channel alpha 3 isoform							44.0	46.0	45.0					2																	99013410		2203	4300	6503	SO:0001589	frameshift_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013410delG	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1777delG	2.37:g.99013410delG	ENSP00000272602:p.Glu593fs					CNGA3_uc002syu.2_Frame_Shift_Del_p.E575fs|CNGA3_uc010fij.2_Frame_Shift_Del_p.E597fs	p.E593fs	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2194	+			593		E -> K (in ACHM2).	cGMP.		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Frame_Shift_Del	DEL	ENST00000272602.2	37	c.1777delG	CCDS2034.1																																																																																				0.612	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		28	45	NA	NA	NA	NA	28	45	---	---	---	---
IL36G	56300	broad.mit.edu	37	2	113737705	113737706	+	Frame_Shift_Ins	INS	-	-	A	rs200670013		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:113737705_113737706insA	ENST00000259205.4	+	4	349_350	c.280_281insA	c.(280-282)cagfs	p.Q94fs	IL36G_ENST00000376489.2_Frame_Shift_Ins_p.Q59fs	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	94					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GGTTGGAGAACAGCCCACATTG	0.371																																						uc002tio.1		NA																	0					0						c.(280-282)CAGfs		interleukin 1 family, member 9																																				SO:0001589	frameshift_variant	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113737705_113737706insA	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.281dupA	2.37:g.113737706_113737706dupA	ENSP00000259205:p.Gln94fs					IL1F9_uc010fkr.1_Frame_Shift_Ins_p.Q59fs	p.Q94fs	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN			4	349_350	+			94					Q56B91|Q6UVX7|Q7RTZ9	Frame_Shift_Ins	INS	ENST00000259205.4	37	c.280_281insA	CCDS2108.1																																																																																				0.371	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		15	38	NA	NA	NA	NA	15	38	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179404975	179404975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:179404975delG	ENST00000591111.1	-	301	93219	c.92995delC	c.(92995-92997)caafs	p.Q30999fs	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.Q23700fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.Q23575fs|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.Q23767fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.Q32640fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.Q30072fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30999	Fibronectin type-III 126. {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)			TCTACTTTTTGCATTTCAATC	0.443																																						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.(90214-90216)CAAfs		titin isoform N2-A							374.0	365.0	368.0					2																	179404975		1959	4162	6121	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404975delG	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.92995delC	2.37:g.179404975delG	ENSP00000465570:p.Gln30999fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.Q23767fs|TTN_uc010zfi.1_Frame_Shift_Del_p.Q23700fs|TTN_uc010zfj.1_Frame_Shift_Del_p.Q23575fs	p.Q30072fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		300	90438	-			30999					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.90214delC																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	214	NA	NA	NA	NA	74	214	---	---	---	---
CREB1	1385	broad.mit.edu	37	2	208420421	208420421	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:208420421delA	ENST00000432329.2	+	2	313	c.62delA	c.(61-63)gaafs	p.E21fs	CREB1_ENST00000536726.1_Frame_Shift_Del_p.E21fs|CREB1_ENST00000353267.3_Frame_Shift_Del_p.E21fs|CREB1_ENST00000374397.4_Frame_Shift_Del_p.E21fs|CREB1_ENST00000430624.1_Frame_Shift_Del_p.E21fs	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	21					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (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 transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	ACAGAAGCTGAAAACCAACAA	0.433			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																	uc002vcc.2		NA		Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		clear cell sarcoma|angiomatoid fibrous histiocytoma	EWSR1/CREB1(42)	0				soft_tissue(42)|breast(1)|central_nervous_system(1)	44						c.(61-63)GAAfs		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)						75.0	69.0	71.0					2																	208420421		2203	4300	6503	SO:0001589	frameshift_variant	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	g.chr2:208420421delA	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.62delA	2.37:g.208420421delA	ENSP00000387699:p.Glu21fs					CREB1_uc010ziz.1_Frame_Shift_Del_p.E19fs|CREB1_uc002vcd.2_Frame_Shift_Del_p.E21fs	p.E21fs	NM_134442	NP_604391	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	2	313	+			21					P21934|Q6V963|Q9UMA7	Frame_Shift_Del	DEL	ENST00000432329.2	37	c.62delA	CCDS2375.1																																																																																				0.433	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442		10	17	NA	NA	NA	NA	10	17	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238303598	238303598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr2:238303598delC	ENST00000295550.4	-	3	793	c.341delG	c.(340-342)ggafs	p.G114fs	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.G114fs|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000346358.4_Frame_Shift_Del_p.G114fs	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	114	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGATTGGTTCCCCCAATATA	0.458																																						uc002vwl.2		NA																	0		p.G114*(1)		ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(340-342)GGAfs		alpha 3 type VI collagen isoform 1 precursor							92.0	97.0	95.0					2																	238303598		2203	4300	6503	SO:0001589	frameshift_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303598delC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.341delG	2.37:g.238303598delC	ENSP00000295550:p.Gly114fs					COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Frame_Shift_Del_p.G114fs	p.G114fs	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	626	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	114			VWFA 1.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Frame_Shift_Del	DEL	ENST00000295550.4	37	c.341delG	CCDS33412.1																																																																																				0.458	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		22	90	NA	NA	NA	NA	22	90	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						uc003ikv.2		NA																	0				breast(1)	1						c.(163-168)insGGC		Brn3b POU domain transcription factor																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup						p.68_69insG	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		68_69					B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		7	15	NA	NA	NA	NA	7	15	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161020587	161020587	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr6:161020587delA	ENST00000316300.5	-	20	3276	c.3232delT	c.(3232-3234)tggfs	p.W1078fs	LPA_ENST00000447678.1_Frame_Shift_Del_p.W1078fs			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3586	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGATGACCAAGCTTGGCAA	0.502																																						uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(3232-3234)TGGfs		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						295.0	316.0	309.0					6																	161020587		2202	4300	6502	SO:0001589	frameshift_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020587delA	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3232delT	6.37:g.161020587delA	ENSP00000321334:p.Trp1078fs						p.W1078fs	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3352	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3586			Kringle 32.		Q5VTD7|Q9UD88	Frame_Shift_Del	DEL	ENST00000316300.5	37	c.3232delT	CCDS43523.1																																																																																				0.502	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		9	687	NA	NA	NA	NA	9	687	---	---	---	---
HNRNPA2B1	3181	broad.mit.edu	37	7	26232884	26232885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr7:26232884_26232885insC	ENST00000354667.4	-	10	1154_1155	c.986_987insG	c.(985-987)ggafs	p.G329fs	HNRNPA2B1_ENST00000476233.1_5'Flank|HNRNPA2B1_ENST00000356674.7_Frame_Shift_Ins_p.G317fs	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	329	Gly-rich.|Nuclear targeting sequence. {ECO:0000250}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CACCATATGGTCCCCCCATGTT	0.361			T	ETV1	prostate																																	uc003sxr.3		NA		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(985-987)GGAfs		heterogeneous nuclear ribonucleoprotein A2/B1																																				SO:0001589	frameshift_variant	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26232884_26232885insC	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.987dupG	7.37:g.26232890_26232890dupC	ENSP00000346694:p.Gly329fs					HNRNPA2B1_uc003sxs.3_Frame_Shift_Ins_p.G317fs	p.G329fs	NM_031243	NP_112533	P22626	ROA2_HUMAN			10	1202_1203	-			329			Gly-rich.|Nuclear targeting sequence (By similarity).		A8K064|P22627|Q9UC98|Q9UDJ2	Frame_Shift_Ins	INS	ENST00000354667.4	37	c.986_987insG	CCDS43557.1																																																																																				0.361	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		25	107	NA	NA	NA	NA	25	107	---	---	---	---
MAPK15	225689	broad.mit.edu	37	8	144804268	144804272	+	Frame_Shift_Del	DEL	GGCCC	GGCCC	-	rs200198011	byFrequency	TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chr8:144804268_144804272delGGCCC	ENST00000338033.4	+	14	1601_1605	c.1482_1486delGGCCC	c.(1480-1488)gaggcccggfs	p.AR495fs		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	495					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCCTCCGGAGGCCCGGCCCGGCCG	0.659																																						uc003yzj.2		NA																	0				lung(2)	2						c.(1480-1488)GAGGCCCGGfs		mitogen-activated protein kinase 15																																				SO:0001589	frameshift_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144804268_144804272delGGCCC	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1482_1486delGGCCC	8.37:g.144804273_144804277delGGCCC	ENSP00000337691:p.Ala495fs						p.E494fs	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		14	1523_1527	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		494_496					Q2TCF9|Q8N362	Frame_Shift_Del	DEL	ENST00000338033.4	37	c.1482_1486delGGCCC	CCDS6409.2																																																																																				0.659	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		25	180	NA	NA	NA	NA	25	180	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3235326	3235327	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:3235326_3235327delGC	ENST00000217939.6	-	6	6549_6550	c.6395_6396delGC	c.(6394-6396)cgcfs	p.R2133fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2133	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACCGTCCTGCGCGCGGAGCC	0.663																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6394-6396)CGCfs		adlican precursor																																				SO:0001589	frameshift_variant	25878					extracellular region		g.chrX:3235326_3235327delGC	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6395_6396delGC	X.37:g.3235330_3235331delGC	ENSP00000217939:p.Arg2133fs						p.R2132fs	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6552_6553	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2132			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Frame_Shift_Del	DEL	ENST00000217939.6	37	c.6395_6396delGC	CCDS14124.1																																																																																				0.663	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	5	NA	NA	NA	NA	6	5	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	104440323	104440323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7364-01A-11D-2012-08	TCGA-CR-7364-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f5047f1e-5088-4d30-927d-e64147fe661d	76d2a8b9-826c-48a4-99f5-f5d826aac3a0	g.chrX:104440323delG	ENST00000372582.1	+	3	1005	c.249delG	c.(247-249)ttgfs	p.L83fs	IL1RAPL2_ENST00000344799.4_Frame_Shift_Del_p.L83fs	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	83	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGGTGATTTGGAAGAGCCCA	0.448																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(247-249)TTGfs		interleukin 1 receptor accessory protein-like 2							100.0	86.0	91.0					X																	104440323		2203	4300	6503	SO:0001589	frameshift_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104440323delG	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.249delG	X.37:g.104440323delG	ENSP00000361663:p.Leu83fs						p.L83fs	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			3	1005	+			83			Ig-like C2-type 1.|Extracellular (Potential).		Q2M3U3|Q9NZN0	Frame_Shift_Del	DEL	ENST00000372582.1	37	c.249delG	CCDS14517.1																																																																																				0.448	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		28	23	NA	NA	NA	NA	28	23	---	---	---	---
