#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
PANK4	55229	broad.mit.edu	37	1	2452658	2452658	+	Missense_Mutation	SNP	C	C	T	rs140699365		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:2452658C>T	ENST00000378466.3	-	3	316	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	PANK4_ENST00000435556.3_Missense_Mutation_p.E102K|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	102					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGCAGGCTTCGATGTAGGTA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19236	0.0		0.001	False		,,,				2504	0.0					uc001ajm.1		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3						c.(304-306)GAA>AAA		pantothenate kinase 4							150.0	150.0	150.0					1																	2452658		2203	4300	6503	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2452658C>T	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.304G>A	1.37:g.2452658C>T	ENSP00000367727:p.Glu102Lys					PANK4_uc010nza.1_Missense_Mutation_p.E102K	p.E102K	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	3	313	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	102					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.304G>A	CCDS42.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.527436	0.96431	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.98567	-5.0;-3.95	4.74	4.74	0.60224	.	0.132878	0.49305	D	0.000155	D	0.98592	0.9529	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.99041	1.0824	10	0.41790	T	0.15	-27.6492	16.6921	0.85324	0.0:1.0:0.0:0.0	.	102;102	E9PHT6;Q9NVE7	.;PANK4_HUMAN	K	102	ENSP00000367727:E102K;ENSP00000421433:E102K	ENSP00000367727:E102K	E	-	1	0	PANK4	2442518	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	7.132000	0.77251	2.177000	0.69029	0.462000	0.41574	GAA		0.507	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			39	104	0	0	0	0	39	104				
NBPF1	55672	broad.mit.edu	37	1	16913608	16913608	+	Missense_Mutation	SNP	T	T	C	rs531297430	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:16913608T>C	ENST00000430580.2	-	11	1602	c.715A>G	c.(715-717)Act>Gct	p.T239A		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	239	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					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)		ACAACCAGAGTTGAGTTGACT	0.448													.|||	5	0.000998403	0.0008	0.0	5008	,	,		32688	0.002		0.0	False		,,,				2504	0.002					uc009vos.1		NA																	0					0						c.(715-717)ACT>GCT		hypothetical protein LOC55672							494.0	424.0	448.0					1																	16913608		2198	4293	6491	SO:0001583	missense	55672					cytoplasm		g.chr1:16913608T>C	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.715A>G	1.37:g.16913608T>C	ENSP00000474456:p.Thr239Ala					NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron	p.T239A	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)	11	1603	-			239			NBPF 1.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.715A>G																																																																																					0.448	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		4	68	0	0	0	0	4	68				
CNKSR1	10256	broad.mit.edu	37	1	26510922	26510922	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:26510922C>T	ENST00000374253.5	+	12	1091	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	CNKSR1_ENST00000361530.6_Missense_Mutation_p.P344L|CNKSR1_ENST00000531191.1_Missense_Mutation_p.P86L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	351	Pro-rich.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCCCTGCCCATCCCCCCG	0.637																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.3		NA																	0				lung(1)|kidney(1)	2						c.(1051-1053)CCC>CTC		connector enhancer of kinase suppressor of Ras							24.0	27.0	26.0					1																	26510922		2203	4298	6501	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26510922C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1052C>T	1.37:g.26510922C>T	ENSP00000363371:p.Pro351Leu					CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.P344L|CNKSR1_uc009vsd.2_Missense_Mutation_p.P86L|CNKSR1_uc009vse.2_Missense_Mutation_p.P86L|CNKSR1_uc001blo.2_Missense_Mutation_p.P86L	p.P351L	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	12	1110	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	351			Pro-rich.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.1052C>T		.	.	.	.	.	.	.	.	.	.	C	9.911	1.209562	0.22289	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.13420	2.59;2.59;2.59	4.92	3.05	0.35203	.	0.703054	0.14117	N	0.340261	T	0.08044	0.0201	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.28839	-1.0031	10	0.44086	T	0.13	-5.5412	4.5201	0.11956	0.1762:0.6403:0.0:0.1835	.	351;344	Q969H4;Q53GM7	CNKR1_HUMAN;.	L	344;351;86	ENSP00000354609:P344L;ENSP00000363371:P351L;ENSP00000431817:P86L	ENSP00000354609:P344L	P	+	2	0	CNKSR1	26383509	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	0.354000	0.20146	0.788000	0.33755	0.603000	0.83216	CCC		0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		6	21	0	0	0	0	6	21				
TXLNA	200081	broad.mit.edu	37	1	32660790	32660790	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:32660790G>T	ENST00000373609.1	+	10	1916	c.1635G>T	c.(1633-1635)agG>agT	p.R545S	TXLNA_ENST00000373610.3_Missense_Mutation_p.R545S			P40222	TXLNA_HUMAN	taxilin alpha	545					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTCCGCCAGGGCCTAGAGAG	0.647																																						uc001bui.2		NA																	0				ovary(2)	2						c.(1633-1635)AGG>AGT		taxilin							19.0	21.0	20.0					1																	32660790		2203	4299	6502	SO:0001583	missense	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32660790G>T	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1635G>T	1.37:g.32660790G>T	ENSP00000362711:p.Arg545Ser					TXLNA_uc001buj.2_Missense_Mutation_p.R545S	p.R545S	NM_175852	NP_787048	P40222	TXLNA_HUMAN			11	1700	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	545					D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	c.1635G>T	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	2.926	-0.222019	0.06061	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.28666	1.6;1.6	5.27	-10.5	0.00291	.	0.292311	0.24815	N	0.035366	T	0.06600	0.0169	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09662	-1.0664	10	0.23891	T	0.37	-7.5248	0.8354	0.01139	0.2576:0.1456:0.3075:0.2893	.	545	P40222	TXLNA_HUMAN	S	545	ENSP00000362712:R545S;ENSP00000362711:R545S	ENSP00000362711:R545S	R	+	3	2	TXLNA	32433377	0.000000	0.05858	0.043000	0.18650	0.072000	0.16883	-2.683000	0.00835	-2.460000	0.00537	-1.945000	0.00491	AGG		0.647	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		18	28	1	0	6.94e-10	1.56e-09	18	28				
CSMD2	114784	broad.mit.edu	37	1	34204749	34204749	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:34204749C>T	ENST00000373381.4	-	15	2536	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	747	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTTCACACCGCAGCACAGC	0.617																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(2239-2241)CGG>CAG		CUB and Sushi multiple domains 2							31.0	28.0	29.0					1																	34204749		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34204749C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2360G>A	1.37:g.34204749C>T	ENSP00000362479:p.Arg787Gln					CSMD2_uc001bxm.1_Missense_Mutation_p.R787Q	p.R747Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			15	2269	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	747			Sushi 4.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2240G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.344070	0.95807	.	.	ENSG00000121904	ENST00000373381	T	0.64991	-0.13	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	T	0.60657	-0.7220	10	0.13108	T	0.6	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	747;787	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Q	787	ENSP00000362479:R787Q	ENSP00000241312:R747Q	R	-	2	0	CSMD2	33977336	0.962000	0.33011	0.971000	0.41717	0.951000	0.60555	5.959000	0.70339	2.941000	0.99782	0.655000	0.94253	CGG		0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		8	16	0	0	0	0	8	16				
POU3F1	5453	broad.mit.edu	37	1	38511546	38511546	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:38511546C>G	ENST00000373012.2	-	1	904	c.870G>C	c.(868-870)caG>caC	p.Q290H	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	290	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGATGGTGGTCTGCGAGAACA	0.612																																						uc001ccp.1		NA																	0					0						c.(868-870)CAG>CAC		POU domain, class 3, transcription factor 1							80.0	71.0	74.0					1																	38511546		2203	4300	6503	SO:0001583	missense	5453				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:38511546C>G	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.870G>C	1.37:g.38511546C>G	ENSP00000362103:p.Gln290His						p.Q290H	NM_002699	NP_002690	Q03052	PO3F1_HUMAN			1	905	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	290			POU-specific.		Q5TAG2	Missense_Mutation	SNP	ENST00000373012.2	37	c.870G>C	CCDS30679.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662131	0.47572	.	.	ENSG00000185668	ENST00000373012	D	0.87256	-2.23	3.55	3.55	0.40652	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	U	0.000000	D	0.93919	0.8054	H	0.94264	3.515	0.50813	D	0.999893	D	0.76494	0.999	D	0.79108	0.992	D	0.93606	0.6934	10	0.87932	D	0	.	6.9728	0.24658	0.0:0.8743:0.0:0.1257	.	290	Q03052	PO3F1_HUMAN	H	290	ENSP00000362103:Q290H	ENSP00000362103:Q290H	Q	-	3	2	POU3F1	38284133	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.888000	0.48594	1.996000	0.58369	0.400000	0.26472	CAG		0.612	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1	NM_002699		15	67	0	0	0	0	15	67				
COL9A2	1298	broad.mit.edu	37	1	40767556	40767556	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:40767556G>A	ENST00000372748.3	-	31	1894	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	600	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TTCTCTCCACGTTTTCCTGTA	0.488																																						uc001cfh.1		NA																	0				ovary(2)	2						c.(1798-1800)CGT>TGT		alpha 2 type IX collagen precursor							43.0	43.0	43.0					1																	40767556		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40767556G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1798C>T	1.37:g.40767556G>A	ENSP00000361834:p.Arg600Cys					COL9A2_uc001cfi.1_Missense_Mutation_p.R419C	p.R600C	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		31	1868	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	600			Triple-helical region 2 (COL2).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.1798C>T	CCDS450.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108145	0.56291	.	.	ENSG00000049089	ENST00000372748	D	0.94537	-3.45	5.35	5.35	0.76521	.	0.048424	0.85682	D	0.000000	D	0.96914	0.8992	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96469	0.9347	10	0.56958	D	0.05	.	11.4766	0.50302	0.0:0.0:0.821:0.179	.	600	Q14055	CO9A2_HUMAN	C	600	ENSP00000361834:R600C	ENSP00000361834:R600C	R	-	1	0	COL9A2	40540143	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.177000	0.42509	2.780000	0.95670	0.655000	0.94253	CGT		0.488	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		5	18	0	0	0	0	5	18				
ROR1	4919	broad.mit.edu	37	1	64644143	64644143	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:64644143G>T	ENST00000371079.1	+	9	2794	c.2419G>T	c.(2419-2421)Ggc>Tgc	p.G807C	ROR1_ENST00000545203.1_Missense_Mutation_p.G258C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	807	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGGTTTCATTGGCCCGCCAAT	0.517																																						uc001dbj.2		NA																	0				ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(2419-2421)GGC>TGC		receptor tyrosine kinase-like orphan receptor 1							66.0	65.0	66.0					1																	64644143		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64644143G>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2419G>T	1.37:g.64644143G>T	ENSP00000360120:p.Gly807Cys					uc001dbm.2_5'Flank	p.G807C	NM_005012	NP_005003	Q01973	ROR1_HUMAN			9	2818	+			807			Cytoplasmic (Potential).|Pro-rich.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.2419G>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910341	0.52439	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.79352	-0.99;-1.26	6.17	4.3	0.51218	.	0.000000	0.43919	D	0.000513	T	0.61060	0.2317	N	0.14661	0.345	0.45250	D	0.998256	D	0.63880	0.993	P	0.53062	0.717	T	0.68281	-0.5450	10	0.54805	T	0.06	.	11.7218	0.51688	0.1459:0.0:0.8541:0.0	.	807	Q01973	ROR1_HUMAN	C	807;810;258	ENSP00000360120:G807C;ENSP00000441637:G258C	ENSP00000360120:G807C	G	+	1	0	ROR1	64416731	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	4.864000	0.62990	0.912000	0.36772	0.655000	0.94253	GGC		0.517	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		15	38	1	0	4.15e-12	9.62e-12	15	38				
LRRC7	57554	broad.mit.edu	37	1	70460276	70460276	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:70460276G>A	ENST00000035383.5	+	9	880	c.850G>A	c.(850-852)Gat>Aat	p.D284N	LRRC7_ENST00000310961.5_Missense_Mutation_p.D289N|LRRC7_ENST00000415775.2_De_novo_Start_InFrame	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	284						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTAAAAGTAGATGACAATCA	0.328																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(850-852)GAT>AAT		leucine rich repeat containing 7							106.0	109.0	108.0					1																	70460276		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70460276G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.850G>A	1.37:g.70460276G>A	ENSP00000035383:p.Asp284Asn					LRRC7_uc009wbg.2_5'UTR	p.D284N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			9	880	+			284			LRR 12.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.850G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612559	0.87258	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.24350	1.99;1.86	5.4	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	N	0.13299	0.325	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.15065	-1.0450	10	0.52906	T	0.07	.	13.627	0.62170	0.0752:0.0:0.9248:0.0	.	284	Q96NW7	LRRC7_HUMAN	N	289;284;107	ENSP00000309245:D289N;ENSP00000035383:D284N	ENSP00000035383:D284N	D	+	1	0	LRRC7	70232864	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.185000	0.77714	1.416000	0.47057	0.655000	0.94253	GAT		0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		14	64	0	0	0	0	14	64				
FAM73A	374986	broad.mit.edu	37	1	78324717	78324717	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:78324717G>T	ENST00000370791.3	+	9	1123	c.1091G>T	c.(1090-1092)gGa>gTa	p.G364V	FAM73A_ENST00000443751.2_Missense_Mutation_p.G326V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	364						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTTGAAGAAGGAAAAATTTAC	0.383																																						uc001dhx.2		NA																	0				ovary(1)	1						c.(1090-1092)GGA>GTA		hypothetical protein LOC374986							102.0	96.0	98.0					1																	78324717		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78324717G>T		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1091G>T	1.37:g.78324717G>T	ENSP00000359827:p.Gly364Val					FAM73A_uc010ork.1_Missense_Mutation_p.G364V|FAM73A_uc010orl.1_Missense_Mutation_p.G326V|FAM73A_uc001dhy.1_Missense_Mutation_p.G153V	p.G364V	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	9	1123	+			364					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.1091G>T	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580323	0.86645	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.26660	1.72;1.72	5.56	5.56	0.83823	.	0.108661	0.64402	D	0.000007	T	0.49779	0.1577	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	1.0;0.973;1.0;0.973	T	0.53620	-0.8413	10	0.66056	D	0.02	0.0064	19.5172	0.95169	0.0:0.0:1.0:0.0	.	326;364;364;364	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	V	364;326	ENSP00000359827:G364V;ENSP00000393675:G326V	ENSP00000359827:G364V	G	+	2	0	FAM73A	78097305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.821000	0.69257	2.616000	0.88540	0.655000	0.94253	GGA		0.383	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		6	35	1	0	3.6e-05	6.97e-05	6	35				
F3	2152	broad.mit.edu	37	1	94997876	94997876	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:94997876C>T	ENST00000334047.7	-	5	915		c.e5+1		F3_ENST00000370207.4_Intron|F3_ENST00000480356.1_5'Flank	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)						activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GAGCCACTCACCTCTGAATTC	0.542																																					Melanoma(40;358 1339 15970 39161)	uc001dqr.2		NA																	0				central_nervous_system(1)	1						c.e5+1		coagulation factor III precursor	Coagulation factor VIIa(DB00036)						113.0	99.0	104.0					1																	94997876		2203	4300	6503	SO:0001630	splice_region_variant	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:94997876C>T	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.751+1G>A	1.37:g.94997876C>T						F3_uc001dqp.2_Splice_Site|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron	p.E251_splice	NM_001993	NP_001984	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	5	930	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)						D3DT47|Q6FHG2|Q86WH4	Splice_Site	SNP	ENST00000334047.7	37	c.751_splice	CCDS750.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143330	0.57044	.	.	ENSG00000117525	ENST00000334047	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2061	0.73180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F3	94770464	1.000000	0.71417	0.796000	0.32109	0.183000	0.23260	2.366000	0.44204	2.749000	0.94314	0.655000	0.94253	.		0.542	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993	Intron	16	54	0	0	0	0	16	54				
F3	2152	broad.mit.edu	37	1	94997899	94997899	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:94997899G>T	ENST00000334047.7	-	5	892	c.729C>A	c.(727-729)ggC>ggA	p.G243G	F3_ENST00000370207.4_Intron|F3_ENST00000480356.1_5'Flank	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	243					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CTTTCTCCTGGCCCATACACT	0.532																																					Melanoma(40;358 1339 15970 39161)	uc001dqr.2		NA																	0				central_nervous_system(1)	1						c.(727-729)GGC>GGA		coagulation factor III precursor	Coagulation factor VIIa(DB00036)						129.0	114.0	119.0					1																	94997899		2203	4300	6503	SO:0001819	synonymous_variant	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:94997899G>T	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.729C>A	1.37:g.94997899G>T						F3_uc001dqp.2_RNA|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron	p.G243G	NM_001993	NP_001984	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	5	908	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)	243			Extracellular (Potential).		D3DT47|Q6FHG2|Q86WH4	Silent	SNP	ENST00000334047.7	37	c.729C>A	CCDS750.1																																																																																				0.532	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		17	62	1	0	1.78e-19	4.33e-19	17	62				
RPTN	126638	broad.mit.edu	37	1	152128617	152128617	+	Missense_Mutation	SNP	T	T	C	rs12117644		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:152128617T>C	ENST00000316073.3	-	3	1022	c.958A>G	c.(958-960)Agt>Ggt	p.S320G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	320	Gln-rich.		S -> G (in dbSNP:rs12117644).			cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACTGTAGTGGGAA	0.507																																						uc001ezs.1		NA																	0					0						c.(958-960)AGT>GGT		repetin							740.0	647.0	675.0					1																	152128617		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128617T>C	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.958A>G	1.37:g.152128617T>C	ENSP00000317895:p.Ser320Gly						p.S320G	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1023	-			320			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.958A>G	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.477684	0.01035	.	.	ENSG00000215853	ENST00000316073	T	0.10960	2.82	4.03	-0.201	0.13212	.	0.515229	0.14305	N	0.328061	T	0.00695	0.0023	N	0.01454	-0.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46498	-0.9187	10	0.02654	T	1	.	7.482	0.27411	0.0:0.4802:0.0:0.5198	rs12117644	320	Q6XPR3	RPTN_HUMAN	G	320	ENSP00000317895:S320G	ENSP00000317895:S320G	S	-	1	0	RPTN	150395241	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.125000	0.10579	0.045000	0.15804	-0.565000	0.04167	AGT		0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		6	838	0	0	0	0	6	838				
IVL	3713	broad.mit.edu	37	1	152882573	152882573	+	Silent	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:152882573A>G	ENST00000368764.3	+	2	364	c.300A>G	c.(298-300)aaA>aaG	p.K100K	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	100					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATATCAGAAAGCAGAAAACC	0.493																																						uc001fau.2		NA																	0				ovary(3)	3						c.(298-300)AAA>AAG		involucrin							52.0	54.0	53.0					1																	152882573		2203	4300	6503	SO:0001819	synonymous_variant	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152882573A>G	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.300A>G	1.37:g.152882573A>G							p.K100K	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	346	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		100					Q5T7P4	Silent	SNP	ENST00000368764.3	37	c.300A>G	CCDS1030.1																																																																																				0.493	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		16	32	0	0	0	0	16	32				
PEAR1	375033	broad.mit.edu	37	1	156882415	156882415	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:156882415G>T	ENST00000338302.3	+	18	2434		c.e18+1		PEAR1_ENST00000292357.7_Splice_Site			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1						recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCAGGATTGGTGAGTTCTTT	0.602																																						uc001fqj.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.e17+1		platelet endothelial aggregation receptor 1							102.0	111.0	108.0					1																	156882415		2203	4300	6503	SO:0001630	splice_region_variant	375033					integral to membrane		g.chr1:156882415G>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2209+1G>T	1.37:g.156882415G>T						PEAR1_uc001fqk.1_Splice_Site_p.G362_splice	p.G737_splice	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			17	2325	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							Q8TEK2	Splice_Site	SNP	ENST00000338302.3	37	c.2209_splice	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841830	0.71488	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7256	0.77756	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PEAR1	155149039	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.960000	0.70348	2.563000	0.86464	0.563000	0.77884	.		0.602	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471	Intron	37	36	1	0	4.63e-21	1.13e-20	37	36				
SPTA1	6708	broad.mit.edu	37	1	158641851	158641851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:158641851C>A	ENST00000368147.4	-	11	1666	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	496					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCGTTACCTCTTGTCTACTC	0.493																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1486-1488)GAG>TAG		spectrin, alpha, erythrocytic 1							131.0	130.0	130.0					1																	158641851		1993	4153	6146	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641851C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1486G>T	1.37:g.158641851C>A	ENSP00000357129:p.Glu496*						p.E496*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			11	1685	-	all_hematologic(112;0.0378)		496			Spectrin 6.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.1486G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	40	8.442381	0.98813	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.0	5.0	0.66597	.	0.000000	0.32640	N	0.005834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.0503	0.86517	0.0:1.0:0.0:0.0	.	.	.	.	X	496	.	ENSP00000357129:E496X	E	-	1	0	SPTA1	156908475	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.856000	0.75450	2.590000	0.87494	0.655000	0.94253	GAG		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		40	47	1	0	3.71e-28	9.19e-28	40	47				
LRRC52	440699	broad.mit.edu	37	1	165532977	165532977	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:165532977C>T	ENST00000294818.1	+	2	1148	c.858C>T	c.(856-858)gaC>gaT	p.D286D	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	286					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAGATGAGGACGAGGCCGGGA	0.572																																						uc001gde.2		NA																	0				ovary(1)	1						c.(856-858)GAC>GAT		leucine rich repeat containing 52 precursor							58.0	61.0	60.0					1																	165532977		2203	4300	6503	SO:0001819	synonymous_variant	440699					integral to membrane		g.chr1:165532977C>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.858C>T	1.37:g.165532977C>T						LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.D286D	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			2	914	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		286			Cytoplasmic (Potential).		A2RUN7|Q5T9K5	Silent	SNP	ENST00000294818.1	37	c.858C>T	CCDS30930.1																																																																																				0.572	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		5	50	0	0	0	0	5	50				
SELP	6403	broad.mit.edu	37	1	169565302	169565302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:169565302G>T	ENST00000263686.6	-	12	1999	c.1962C>A	c.(1960-1962)taC>taA	p.Y654*	SELP_ENST00000367788.2_Nonsense_Mutation_p.Y592*|SELP_ENST00000458599.2_Nonsense_Mutation_p.Y470*|SELP_ENST00000367791.2_Nonsense_Mutation_p.Y468*|SELP_ENST00000367792.2_Nonsense_Mutation_p.Y470*|SELP_ENST00000367786.2_Nonsense_Mutation_p.Y592*|SELP_ENST00000367793.2_Nonsense_Mutation_p.Y592*|SELP_ENST00000367794.2_Nonsense_Mutation_p.Y592*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	654	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	p.Y654Y(1)		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)	GATGCCTACAGTACATGGTTC	0.498																																						uc001ggi.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|skin(2)	4						c.(1960-1962)TAC>TAA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						256.0	254.0	255.0					1																	169565302		2203	4300	6503	SO:0001587	stop_gained	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.chr1:169565302G>T	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.1962C>A	1.37:g.169565302G>T	ENSP00000263686:p.Tyr654*					SELP_uc001ggh.2_Nonsense_Mutation_p.Y489*|SELP_uc009wvr.2_Nonsense_Mutation_p.Y654*	p.Y654*	NM_003005	NP_002996	P16109	LYAM3_HUMAN			12	2027	-	all_hematologic(923;0.208)		654			Extracellular (Potential).|Sushi 8.		Q5R344|Q8IVD1	Nonsense_Mutation	SNP	ENST00000263686.6	37	c.1962C>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.331310|5.331310	0.95733|0.95733	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|.	.|.	.|.	4.22|4.22	3.29|3.29	0.37713|0.37713	.|.	.|1.244390	.|0.05512	.|N	.|0.560512	T|.	0.04272|.	0.0118|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25363|.	-1.0134|.	3|.	.|0.02654	.|T	.|1	-2.9303|-2.9303	7.2224|7.2224	0.25994|0.25994	0.1181:0.0:0.8819:0.0|0.1181:0.0:0.8819:0.0	.|.	.|.	.|.	.|.	M|X	470|468;654;653;470;654;654;592;592;470;468;592;592;577	.|.	.|ENSP00000263686:Y654X	L|Y	-|-	1|3	2|2	SELP|SELP	167831926|167831926	0.724000|0.724000	0.28038|0.28038	0.866000|0.866000	0.34008|0.34008	0.151000|0.151000	0.21798|0.21798	0.780000|0.780000	0.26760|0.26760	2.328000|2.328000	0.79073|0.79073	0.563000|0.563000	0.77884|0.77884	CTG|TAC		0.498	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		61	238	1	0	5.11e-33	1.27e-32	61	238				
SELP	6403	broad.mit.edu	37	1	169572435	169572435	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:169572435G>T	ENST00000263686.6	-	10	1571	c.1534C>A	c.(1534-1536)Cct>Act	p.P512T	SELP_ENST00000367788.2_Missense_Mutation_p.P450T|SELP_ENST00000458599.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.P388T|SELP_ENST00000367792.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.P450T|SELP_ENST00000367793.2_Missense_Mutation_p.P450T|SELP_ENST00000367794.2_Missense_Mutation_p.P450T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	512	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	CTTAGCAAAGGTGTGCAGGGA	0.433																																						uc001ggi.3		NA																	0				ovary(2)|skin(2)	4						c.(1534-1536)CCT>ACT		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						119.0	113.0	115.0					1																	169572435		2203	4300	6503	SO:0001583	missense	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.chr1:169572435G>T	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.1534C>A	1.37:g.169572435G>T	ENSP00000263686:p.Pro512Thr					SELP_uc001ggh.2_Missense_Mutation_p.P347T|SELP_uc009wvr.2_Missense_Mutation_p.P512T	p.P512T	NM_003005	NP_002996	P16109	LYAM3_HUMAN			10	1599	-	all_hematologic(923;0.208)		512			Extracellular (Potential).|Sushi 6.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1534C>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963613	0.18583	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.9	4.98	0.66077	Complement control module (2);Sushi/SCR/CCP (3);	0.210758	0.33980	N	0.004367	T	0.57110	0.2031	L	0.49699	1.58	0.20307	N	0.999911	D;P;D	0.65815	0.992;0.88;0.995	D;P;P	0.63957	0.92;0.752;0.869	T	0.52924	-0.8510	10	0.20519	T	0.43	-0.8343	13.1008	0.59218	0.0:0.1606:0.8394:0.0	.	512;512;512	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	T	388;512;511;512;512;450;450;388;450;450;435	ENSP00000263686:P512T;ENSP00000356767:P450T;ENSP00000356768:P450T;ENSP00000356765:P388T;ENSP00000356762:P450T;ENSP00000356760:P450T	ENSP00000263686:P512T	P	-	1	0	SELP	167839059	0.988000	0.35896	0.084000	0.20598	0.051000	0.14879	1.403000	0.34612	1.482000	0.48325	0.650000	0.86243	CCT		0.433	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		42	68	1	0	2.25e-20	5.48e-20	42	68				
VASH2	79805	broad.mit.edu	37	1	213134597	213134597	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:213134597G>T	ENST00000517399.1	+	2	365		c.e2+1		VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366968.4_Splice_Site|VASH2_ENST00000366964.3_Splice_Site|VASH2_ENST00000366965.2_Splice_Site|VASH2_ENST00000366966.2_Splice_Site|VASH2_ENST00000366967.2_Splice_Site			Q86V25	VASH2_HUMAN	vasohibin 2						positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGACCCTACAGTATCCTTCCA	0.537																																						uc001hjy.2		NA																	0					0						c.e2+1		vasohibin 2 isoform 3							132.0	127.0	129.0					1																	213134597		2203	4300	6503	SO:0001630	splice_region_variant	79805				positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213134597G>T	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.365+1G>T	1.37:g.213134597G>T						VASH2_uc001hju.2_Splice_Site_p.Q122_splice|VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Splice_Site_p.Q57_splice|VASH2_uc010ptn.1_Splice_Site_p.Q18_splice|VASH2_uc001hjw.2_Splice_Site_p.H122_splice	p.Q122_splice	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	2	569	+								B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Splice_Site	SNP	ENST00000517399.1	37	c.365_splice	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265577	0.80358	.	.	ENSG00000143494	ENST00000366966;ENST00000366968;ENST00000366965;ENST00000366967;ENST00000517399	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8538	0.88756	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VASH2	211201220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.926000	0.92839	2.313000	0.78055	0.655000	0.94253	.		0.537	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749	Intron	46	89	1	0	7.05e-23	1.73e-22	46	89				
SMYD2	56950	broad.mit.edu	37	1	214488115	214488115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:214488115G>A	ENST00000366957.5	+	3	270	c.248G>A	c.(247-249)tGg>tAg	p.W83*	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Nonsense_Mutation_p.W83*	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	83	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AAAGAAGATTGGCCCATGCAC	0.428																																						uc010ptx.1		NA																	0				ovary(1)	1						c.(247-249)TGG>TAG		SET and MYND domain containing 2							84.0	84.0	84.0					1																	214488115		2203	4300	6503	SO:0001587	stop_gained	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214488115G>A	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.248G>A	1.37:g.214488115G>A	ENSP00000355924:p.Trp83*					SMYD2_uc009xdj.2_5'UTR|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA	p.W83*	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	3	281	+			83			MYND-type.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Nonsense_Mutation	SNP	ENST00000366957.5	37	c.248G>A	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	G	36	5.733756	0.96865	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	.	.	.	5.57	5.57	0.84162	.	0.108528	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.3464	19.898	0.96973	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000355924:W83X	W	+	2	0	SMYD2	212554738	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.780000	0.95670	0.561000	0.74099	TGG		0.428	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		10	52	0	0	0	0	10	52				
USH2A	7399	broad.mit.edu	37	1	215987092	215987092	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:215987092G>C	ENST00000307340.3	-	49	10111	c.9725C>G	c.(9724-9726)gCt>gGt	p.A3242G	USH2A_ENST00000366943.2_Missense_Mutation_p.A3242G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3242					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)		TAGAATTCTAGCGTAATACCC	0.418										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(9724-9726)GCT>GGT		usherin isoform B							123.0	116.0	118.0					1																	215987092		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.chr1:215987092G>C	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.9725C>G	1.37:g.215987092G>C	ENSP00000305941:p.Ala3242Gly	HNSCC(13;0.011)					p.A3242G	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	49	10112	-			3242			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9725C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998370	0.74818	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13196	2.62;2.61	5.53	-1.53	0.08611	Fibronectin, type III (2);	2.444380	0.02465	U	0.086958	T	0.13457	0.0326	L	0.36672	1.1	0.09310	N	1	B	0.32245	0.361	B	0.27608	0.081	T	0.41538	-0.9503	10	0.87932	D	0	.	11.8114	0.52185	0.3421:0.0:0.6579:0.0	.	3242	O75445	USH2A_HUMAN	G	3242	ENSP00000305941:A3242G;ENSP00000355910:A3242G	ENSP00000305941:A3242G	A	-	2	0	USH2A	214053715	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	0.055000	0.14229	-0.659000	0.05359	0.591000	0.81541	GCT		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	60	0	0	0	0	13	60				
USH2A	7399	broad.mit.edu	37	1	216595476	216595476	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:216595476T>A	ENST00000307340.3	-	2	589	c.203A>T	c.(202-204)cAc>cTc	p.H68L	USH2A_ENST00000366943.2_Missense_Mutation_p.H68L|USH2A_ENST00000366942.3_Missense_Mutation_p.H68L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	68					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)		AGCAGAGCTGTGACAAAAAGT	0.493										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(202-204)CAC>CTC		usherin isoform B							98.0	96.0	97.0					1																	216595476		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.chr1:216595476T>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.203A>T	1.37:g.216595476T>A	ENSP00000305941:p.His68Leu	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.H68L	p.H68L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	590	-			68			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.203A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.274608	0.23307	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.18502	2.68;2.67;2.21	5.27	2.88	0.33553	.	0.510631	0.15915	U	0.238436	T	0.15435	0.0372	L	0.54323	1.7	0.29389	N	0.862766	B;B	0.26708	0.157;0.001	B;B	0.21917	0.037;0.004	T	0.11665	-1.0578	10	0.45353	T	0.12	.	6.7796	0.23638	0.1355:0.0737:0.0:0.7907	.	68;68	O75445-2;O75445	.;USH2A_HUMAN	L	68	ENSP00000305941:H68L;ENSP00000355910:H68L;ENSP00000355909:H68L	ENSP00000305941:H68L	H	-	2	0	USH2A	214662099	0.987000	0.35691	0.147000	0.22382	0.477000	0.33069	2.087000	0.41653	0.301000	0.22738	0.482000	0.46254	CAC		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		21	26	0	0	0	0	21	26				
SLC30A10	55532	broad.mit.edu	37	1	220089179	220089179	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:220089179C>A	ENST00000366926.3	-	4	1231	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	SLC30A10_ENST00000536446.1_Missense_Mutation_p.R112M|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	357					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TTGATATCCCCTGTCCTTAGG	0.453																																					Colon(76;360 1614 43677 51136)	uc001hlw.2		NA																	0					0						c.(1069-1071)AGG>ATG		solute carrier family 30 (zinc transporter),							111.0	108.0	109.0					1																	220089179		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220089179C>A	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1070G>T	1.37:g.220089179C>A	ENSP00000355893:p.Arg357Met					SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Missense_Mutation_p.R112M|SLC30A10_uc001hlx.2_Missense_Mutation_p.R132M	p.R357M	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	4	1281	-			357			Cytoplasmic (Potential).		Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.1070G>T	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112634	0.56398	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.51325	0.71;0.71	6.16	-2.8	0.05823	.	0.718005	0.13888	N	0.355827	T	0.31451	0.0797	N	0.22421	0.69	0.09310	N	1	P	0.49253	0.921	P	0.48488	0.579	T	0.20672	-1.0268	9	.	.	.	-1.9734	3.782	0.08684	0.0789:0.2539:0.3445:0.3227	.	357	Q6XR72	ZNT10_HUMAN	M	357;112	ENSP00000355893:R357M;ENSP00000439489:R112M	.	R	-	2	0	SLC30A10	218155802	0.000000	0.05858	0.003000	0.11579	0.966000	0.64601	-0.068000	0.11561	-0.338000	0.08413	0.650000	0.86243	AGG		0.453	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		19	99	1	0	3.52e-12	8.17e-12	19	99				
HHIPL2	79802	broad.mit.edu	37	1	222721186	222721186	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:222721186G>A	ENST00000343410.6	-	1	259	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	67					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CACAGCAGCCGAAGGACTCAT	0.567																																						uc001hnh.1		NA																	0				ovary(1)	1						c.(199-201)TTC>TTT		HHIP-like 2 precursor							40.0	42.0	41.0					1																	222721186		1925	4127	6052	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222721186G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.201C>T	1.37:g.222721186G>A							p.F67F	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	259	-			67					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.201C>T	CCDS1530.2																																																																																				0.567	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		8	43	0	0	0	0	8	43				
URB2	9816	broad.mit.edu	37	1	229773042	229773042	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:229773042C>T	ENST00000258243.2	+	4	2818	c.2682C>T	c.(2680-2682)atC>atT	p.I894I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	894						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGGAAAGCATCCTGGGGCTTT	0.498																																						uc001hts.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2680-2682)ATC>ATT		URB2 ribosome biogenesis 2 homolog							149.0	145.0	147.0					1																	229773042		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229773042C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2682C>T	1.37:g.229773042C>T						URB2_uc009xfd.1_Silent_p.I894I	p.I894I	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	2818	+			894					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.2682C>T	CCDS31052.1																																																																																				0.498	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		54	85	0	0	0	0	54	85				
HEATR1	55127	broad.mit.edu	37	1	236729217	236729217	+	Splice_Site	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:236729217A>T	ENST00000366582.3	-	31	4550		c.e31+1		HEATR1_ENST00000366581.2_Splice_Site	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCTACGCTTACCTTCTTTTT	0.383																																						uc001hyd.1		NA																	0				ovary(2)|skin(1)	3						c.e31+1		protein BAP28							131.0	126.0	127.0					1																	236729217		2203	4300	6503	SO:0001630	splice_region_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236729217A>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4435+1T>A	1.37:g.236729217A>T						HEATR1_uc009xgh.1_Splice_Site_p.E641_splice	p.E1479_splice	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		31	4560	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)						Q5T3Q8|Q6P197|Q9NW23	Splice_Site	SNP	ENST00000366582.3	37	c.4435_splice	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037906	0.75617	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6846	0.69040	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR1	234795840	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	4.104000	0.57790	2.046000	0.60703	0.533000	0.62120	.		0.383	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	Intron	17	46	0	0	0	0	17	46				
RYR2	6262	broad.mit.edu	37	1	237777666	237777666	+	Missense_Mutation	SNP	C	C	A	rs371966699		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:237777666C>A	ENST00000366574.2	+	37	5555	c.5238C>A	c.(5236-5238)caC>caA	p.H1746Q	RYR2_ENST00000360064.6_Missense_Mutation_p.H1744Q|RYR2_ENST00000542537.1_Missense_Mutation_p.H1730Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1746	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)			ACAAAAAACACGGCCTTCCAG	0.517																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5236-5238)CAC>CAA		cardiac muscle ryanodine receptor							65.0	65.0	65.0					1																	237777666		2043	4195	6238	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.chr1:237777666C>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.5238C>A	1.37:g.237777666C>A	ENSP00000355533:p.His1746Gln						p.H1746Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5358	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1746			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5238C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267783	0.59540	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73681	-0.77;-0.77;-0.77	5.43	-6.17	0.02091	.	0.000000	0.64402	D	0.000006	T	0.72342	0.3448	M	0.81497	2.545	0.80722	D	1	P	0.44690	0.841	B	0.42030	0.373	T	0.76772	-0.2836	10	0.66056	D	0.02	.	16.3225	0.82956	0.0:0.3579:0.0:0.6421	.	1746	Q92736	RYR2_HUMAN	Q	1746;1744;1730	ENSP00000355533:H1746Q;ENSP00000353174:H1744Q;ENSP00000443798:H1730Q	ENSP00000353174:H1744Q	H	+	3	2	RYR2	235844289	0.068000	0.21057	0.935000	0.37517	0.776000	0.43924	-0.623000	0.05546	-1.098000	0.03038	-1.193000	0.01689	CAC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	38	1	0	3.07e-06	6.26e-06	12	38				
FMN2	56776	broad.mit.edu	37	1	240371390	240371390	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:240371390G>T	ENST00000319653.9	+	5	3508	c.3278G>T	c.(3277-3279)gGa>gTa	p.G1093V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1093	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)			CCTCTACCCGGAGCGGGCATA	0.726																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3277-3279)GGA>GTA		formin 2							5.0	6.0	6.0					1																	240371390		1875	3855	5730	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.chr1:240371390G>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.3278G>T	1.37:g.240371390G>T	ENSP00000318884:p.Gly1093Val					FMN2_uc010pye.1_Missense_Mutation_p.G1097V	p.G1093V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3503	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1093			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3278G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	5.319	0.244122	0.10077	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	3.16	2.2	0.27929	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.252042	0.27581	N	0.018723	T	0.73567	0.3603	M	0.90595	3.13	0.09310	N	1	P	0.43885	0.82	P	0.44359	0.447	T	0.68674	-0.5346	9	.	.	.	.	11.7988	0.52114	0.0:0.338:0.662:0.0	.	1093	Q9NZ56	FMN2_HUMAN	V	1093	ENSP00000318884:G1093V	.	G	+	2	0	FMN2	238438013	0.179000	0.23135	0.003000	0.11579	0.004000	0.04260	2.432000	0.44784	0.605000	0.29947	0.484000	0.47621	GGA		0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	22	1	0	0.00198382	0.00355328	5	22				
CEP170	9859	broad.mit.edu	37	1	243349134	243349134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:243349134C>A	ENST00000366542.1	-	10	1564	c.1513G>T	c.(1513-1515)Gag>Tag	p.E505*	CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	505						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCTCTAACTCAATGGTATAA	0.353																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1513-1515)GAG>TAG		centrosomal protein 170kDa isoform alpha							72.0	75.0	74.0					1																	243349134		1798	4042	5840	SO:0001587	stop_gained	9859					centriole|microtubule|spindle		g.chr1:243349134C>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1513G>T	1.37:g.243349134C>A	ENSP00000355500:p.Glu505*					CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron	p.E505*	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		10	1921	-	all_neural(11;0.101)	all_cancers(173;0.003)	505					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Nonsense_Mutation	SNP	ENST00000366542.1	37	c.1513G>T	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.763879|6.763879	0.97821|0.97821	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542|ENST00000336415	.|.	.|.	.|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.050338|.	0.85682|.	D|.	0.000000|.	.|T	.|0.64394	.|0.2594	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62544	.|-0.6832	.|4	0.41790|.	T|.	0.15|.	-15.0235|-15.0235	12.3218|12.3218	0.54989|0.54989	0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775	.|.	.|.	.|.	.|.	X|F	505|468	.|.	ENSP00000355500:E505X|.	E|L	-|-	1|3	0|2	CEP170|CEP170	241415757|241415757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.752000|5.752000	0.68728|0.68728	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	GAG|TTG		0.353	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		24	107	1	0	9.78e-22	2.4e-21	24	107				
KIF26B	55083	broad.mit.edu	37	1	245849896	245849896	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:245849896G>A	ENST00000407071.2	+	12	4051	c.3611G>A	c.(3610-3612)aGc>aAc	p.S1204N	KIF26B_ENST00000366518.4_Missense_Mutation_p.S823N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1204					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)			GTCCTGGACAGCGGCCGCCCC	0.657																																						uc001ibf.1		NA																	0				ovary(3)	3						c.(3610-3612)AGC>AAC		kinesin family member 26B							20.0	26.0	24.0					1																	245849896		2155	4248	6403	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849896G>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.3611G>A	1.37:g.245849896G>A	ENSP00000385545:p.Ser1204Asn					KIF26B_uc001ibg.1_Missense_Mutation_p.S822N|KIF26B_uc001ibh.1_Missense_Mutation_p.S446N	p.S1204N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	4051	+	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)		1204					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3611G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	4.610	0.113362	0.08831	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.75938	-0.98;-0.97	5.77	3.69	0.42338	.	.	.	.	.	T	0.44498	0.1296	N	0.04355	-0.22	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38542	-0.9656	9	0.06757	T	0.87	.	4.1789	0.10365	0.4572:0.0:0.5428:0.0	.	823;1204	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	1204;823;820	ENSP00000385545:S1204N;ENSP00000355475:S823N	ENSP00000355475:S823N	S	+	2	0	KIF26B	243916519	0.937000	0.31787	0.234000	0.24042	0.966000	0.64601	2.654000	0.46699	1.462000	0.47948	0.561000	0.74099	AGC		0.657	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	13	0	0	0	0	4	13				
NLRP3	114548	broad.mit.edu	37	1	247599410	247599410	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:247599410C>A	ENST00000336119.3	+	6	3383	c.2637C>A	c.(2635-2637)gcC>gcA	p.A879A	NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391827.2_Silent_p.A822A|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391828.3_Silent_p.A879A	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	879					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAAAAAGCCAAGAATCCAC	0.438																																						uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2635-2637)GCC>GCA		NLR family, pyrin domain containing 3 isoform a							94.0	88.0	90.0					1																	247599410		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247599410C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2637C>A	1.37:g.247599410C>A						NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Silent_p.A879A|NLRP3_uc001icw.2_Silent_p.A822A|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Silent_p.A857A	p.A879A	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		8	2775	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	879					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2637C>A	CCDS1632.1																																																																																				0.438	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		17	29	1	0	6.94e-10	1.56e-09	17	29				
OR2M4	26245	broad.mit.edu	37	1	248402450	248402450	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:248402450A>T	ENST00000306687.1	+	1	220	c.220A>T	c.(220-222)Atc>Ttc	p.I74F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	74					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I74F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTCATGCTCATCTGCACCAC	0.458																																						uc010pzh.1		NA																	1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	breast(2)	2						c.(220-222)ATC>TTC		olfactory receptor, family 2, subfamily M,							200.0	179.0	187.0					1																	248402450		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402450A>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.220A>T	1.37:g.248402450A>T	ENSP00000306688:p.Ile74Phe						p.I74F	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	220	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		74			Helical; Name=2; (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.220A>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	a	15.46	2.841132	0.51057	.	.	ENSG00000171180	ENST00000306687	T	0.00554	6.64	3.49	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	0.973662	0.08370	N	0.956306	T	0.01320	0.0043	M	0.86178	2.8	0.09310	N	1	P	0.45044	0.849	P	0.50537	0.643	T	0.41787	-0.9489	10	0.87932	D	0	.	4.0267	0.09690	0.6102:0.1796:0.2102:0.0	.	74	Q96R27	OR2M4_HUMAN	F	74	ENSP00000306688:I74F	ENSP00000306688:I74F	I	+	1	0	OR2M4	246469073	0.000000	0.05858	0.993000	0.49108	0.997000	0.91878	-2.070000	0.01380	0.078000	0.16900	0.443000	0.29094	ATC		0.458	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		18	86	0	0	0	0	18	86				
OR2T6	254879	broad.mit.edu	37	1	248551255	248551255	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:248551255G>C	ENST00000355728.2	+	1	346	c.346G>C	c.(346-348)Ggg>Cgg	p.G116R		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G116R(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTCCTGCTGGGGCTCATGGC	0.567																																						uc001iei.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|skin(1)	3						c.(346-348)GGG>CGG		olfactory receptor, family 2, subfamily T,							91.0	95.0	94.0					1																	248551255		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551255G>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.346G>C	1.37:g.248551255G>C	ENSP00000347965:p.Gly116Arg						p.G116R	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	346	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		116			Helical; Name=3; (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.346G>C	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980119	0.53827	.	.	ENSG00000198104	ENST00000355728	T	0.00882	5.58	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.155683	0.30492	N	0.009501	T	0.03827	0.0108	M	0.81942	2.565	0.09310	N	1	D	0.67145	0.996	D	0.64321	0.924	T	0.19976	-1.0289	10	0.87932	D	0	.	5.8389	0.18623	0.2408:0.0:0.7592:0.0	.	116	Q8NHC8	OR2T6_HUMAN	R	116	ENSP00000347965:G116R	ENSP00000347965:G116R	G	+	1	0	OR2T6	246617878	0.000000	0.05858	0.940000	0.37924	0.979000	0.70002	0.701000	0.25616	2.423000	0.82170	0.643000	0.83706	GGG		0.567	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		18	62	0	0	0	0	18	62				
GDI2	2665	broad.mit.edu	37	10	5836966	5836966	+	Missense_Mutation	SNP	C	C	T	rs200939621		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:5836966C>T	ENST00000380191.4	-	4	560	c.270G>A	c.(268-270)atG>atA	p.M90I	GDI2_ENST00000380132.4_Missense_Mutation_p.M94I|GDI2_ENST00000380181.3_Intron	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	90					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TATAAAGCAGCATCTTAACCA	0.333																																						uc001iil.3		NA																	0					0						c.(268-270)ATG>ATA		GDP dissociation inhibitor 2 isoform 1							66.0	64.0	65.0					10																	5836966		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5836966C>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.270G>A	10.37:g.5836966C>T	ENSP00000369538:p.Met90Ile					GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Missense_Mutation_p.M94I	p.M90I	NM_001494	NP_001485	P50395	GDIB_HUMAN			4	561	-			90					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.270G>A	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	8.898	0.955738	0.18507	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000418688;ENST00000380127	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	N	0.11064	0.09	0.80722	D	1	B;B	0.16603	0.018;0.007	B;B	0.24269	0.052;0.031	T	0.64525	-0.6387	10	0.02654	T	1	-28.9514	17.9501	0.89050	0.0:1.0:0.0:0.0	.	94;90	E7EU23;P50395	.;GDIB_HUMAN	I	90;94;54;94	ENSP00000369538:M90I;ENSP00000369475:M94I;ENSP00000394177:M54I;ENSP00000369470:M94I	ENSP00000369470:M94I	M	-	3	0	GDI2	5876972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.342000	0.79632	0.555000	0.69702	ATG		0.333	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		27	37	0	0	0	0	27	37				
GATA3	2625	broad.mit.edu	37	10	8100316	8100316	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:8100316T>A	ENST00000346208.3	+	3	745	c.290T>A	c.(289-291)cTg>cAg	p.L97Q	GATA3_ENST00000379328.3_Missense_Mutation_p.L97Q			P23771	GATA3_HUMAN	GATA binding protein 3	97					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTACCCTGGCTGGACGGCGGC	0.687			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		0				breast(17)|ovary(3)|central_nervous_system(2)	22						c.(289-291)CTG>CAG		GATA binding protein 3 isoform 2							51.0	63.0	59.0					10																	8100316		2203	4299	6502	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100316T>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.290T>A	10.37:g.8100316T>A	ENSP00000341619:p.Leu97Gln					GATA3_uc001ijz.2_Missense_Mutation_p.L97Q	p.L97Q	NM_002051	NP_002042	P23771	GATA3_HUMAN			3	847	+			97					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.290T>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895930	0.72639	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.98028	-4.66;-4.67	5.31	5.31	0.75309	.	0.143965	0.48286	D	0.000190	D	0.98333	0.9447	M	0.82056	2.57	0.58432	D	0.999993	P;D	0.69078	0.938;0.997	P;D	0.71184	0.467;0.972	D	0.98991	1.0808	10	0.87932	D	0	-18.7424	9.7332	0.40374	0.0:0.0775:0.0:0.9225	.	97;97	P23771;P23771-2	GATA3_HUMAN;.	Q	97	ENSP00000368632:L97Q;ENSP00000341619:L97Q	ENSP00000341619:L97Q	L	+	2	0	GATA3	8140322	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.123000	0.64703	1.999000	0.58509	0.459000	0.35465	CTG		0.687	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		15	98	0	0	0	0	15	98				
MBL2	4153	broad.mit.edu	37	10	54529051	54529051	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:54529051G>C	ENST00000373968.3	-	3	393	c.329C>G	c.(328-330)tCa>tGa	p.S110*		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	110					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTTTCTTTCTGAGGCAGCCAG	0.408																																						uc001jjt.2		NA																	0				ovary(1)	1						c.(328-330)TCA>TGA		soluble mannose-binding lectin precursor							123.0	129.0	127.0					10																	54529051		2202	4300	6502	SO:0001587	stop_gained	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54529051G>C	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.329C>G	10.37:g.54529051G>C	ENSP00000363079:p.Ser110*						p.S110*	NM_000242	NP_000233	P11226	MBL2_HUMAN			3	394	-			110					Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Nonsense_Mutation	SNP	ENST00000373968.3	37	c.329C>G	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754785	0.49362	.	.	ENSG00000165471	ENST00000373968	.	.	.	4.32	0.235	0.15431	.	1.603960	0.03614	N	0.235270	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.0515	4.2193	0.10549	0.2912:0.1696:0.5392:0.0	.	.	.	.	X	110	.	ENSP00000363079:S110X	S	-	2	0	MBL2	54199057	0.003000	0.15002	0.000000	0.03702	0.015000	0.08874	0.186000	0.16978	0.047000	0.15862	0.655000	0.94253	TCA		0.408	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		19	106	0	0	0	0	19	106				
RTKN2	219790	broad.mit.edu	37	10	63957982	63957982	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:63957982G>A	ENST00000373789.3	-	12	1611	c.1515C>T	c.(1513-1515)ccC>ccT	p.P505P	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	505					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAGGAGGAAGGGGAGCTTGTC	0.398																																						uc001jlw.2		NA																	0					0						c.(1513-1515)CCC>CCT		rhotekin 2							223.0	221.0	222.0					10																	63957982		2203	4300	6503	SO:0001819	synonymous_variant	219790				signal transduction	intracellular		g.chr10:63957982G>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1515C>T	10.37:g.63957982G>A						RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.2_Silent_p.P159P	p.P505P	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			12	1612	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		505					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	c.1515C>T	CCDS7263.1																																																																																				0.398	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		29	123	0	0	0	0	29	123				
CTNNA3	29119	broad.mit.edu	37	10	67726465	67726465	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:67726465G>A	ENST00000433211.2	-	17	2479	c.2305C>T	c.(2305-2307)Ctg>Ttg	p.L769L	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.L769L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATCTGTTCCAGGTAGGCCAAC	0.403																																						uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2305-2307)CTG>TTG		catenin, alpha 3							94.0	89.0	91.0					10																	67726465		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67726465G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2305C>T	10.37:g.67726465G>A						CTNNA3_uc001jmw.2_Silent_p.L769L	p.L769L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			17	2428	-			769						Silent	SNP	ENST00000433211.2	37	c.2305C>T	CCDS7269.1																																																																																				0.403	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		12	46	0	0	0	0	12	46				
ZSWIM8	23053	broad.mit.edu	37	10	75560118	75560118	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:75560118C>G	ENST00000605216.1	+	23	5116	c.4899C>G	c.(4897-4899)acC>acG	p.T1633T	ZSWIM8_ENST00000603114.1_Silent_p.T1592T|ZSWIM8_ENST00000604524.1_Silent_p.T1451T|ZSWIM8_ENST00000604729.1_Silent_p.T1630T|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000398706.2_Silent_p.T1638T|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1633	Pro-rich.						zinc ion binding (GO:0008270)										CTGCCCTGACCACACAGCCCA	0.607																																						uc009xrl.2		NA																	0				breast(1)	1						c.(4897-4899)ACC>ACG		hypothetical protein LOC23053							75.0	81.0	79.0					10																	75560118		2175	4275	6450	SO:0001819	synonymous_variant	23053						zinc ion binding	g.chr10:75560118C>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4899C>G	10.37:g.75560118C>G						KIAA0913_uc001jve.2_Silent_p.T1638T|KIAA0913_uc001jvf.2_Silent_p.T1451T|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.T1060T|KIAA0913_uc010qkr.1_Silent_p.T1048T|KIAA0913_uc001jvj.2_Silent_p.T1048T|KIAA0913_uc009xrn.1_Silent_p.T44T	p.T1633T	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			23	4931	+	Prostate(51;0.0112)		1633			Pro-rich.		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.4899C>G		.	.	.	.	.	.	.	.	.	.	C	3.583	-0.085106	0.07097	.	.	ENSG00000214655	ENST00000412198	.	.	.	6.06	1.61	0.23674	.	.	.	.	.	T	0.54695	0.1874	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48647	-0.9017	4	.	.	.	-6.5353	7.2088	0.25921	0.0:0.5902:0.1236:0.2862	.	.	.	.	R	908	.	.	P	+	2	0	KIAA0913	75230124	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.402000	0.20965	0.847000	0.35167	0.655000	0.94253	CCA		0.607	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		17	76	0	0	0	0	17	76				
LRIT1	26103	broad.mit.edu	37	10	85992040	85992040	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:85992040G>T	ENST00000372105.3	-	4	1536	c.1515C>A	c.(1513-1515)ccC>ccA	p.P505P		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	505	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCTCCTTCCGGGGCACCAGGC	0.552																																						uc001kcz.1		NA																	0					0						c.(1513-1515)CCC>CCA		retina specific protein PAL							56.0	50.0	52.0					10																	85992040		2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992040G>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1515C>A	10.37:g.85992040G>T							p.P505P	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1537	-			505			Fibronectin type-III.|Lumenal (Potential).		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1515C>A	CCDS7373.1																																																																																				0.552	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		6	15	1	0	8.13e-05	0.000155366	6	15				
CCSER2	54462	broad.mit.edu	37	10	86133458	86133458	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:86133458C>T	ENST00000224756.8	+	3	1686	c.1501C>T	c.(1501-1503)Ctc>Ttc	p.L501F	CCSER2_ENST00000359979.4_Missense_Mutation_p.L501F|CCSER2_ENST00000372088.2_Missense_Mutation_p.L501F	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	501					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TTCGTTTGAACTCTCTCCATC	0.428																																						uc001kdh.1		NA																	0				ovary(3)|skin(1)	4						c.(1501-1503)CTC>TTC		granule cell antiserum positive 14							114.0	103.0	107.0					10																	86133458		2203	4299	6502	SO:0001583	missense	54462							g.chr10:86133458C>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1501C>T	10.37:g.86133458C>T	ENSP00000224756:p.Leu501Phe					FAM190B_uc001kdg.1_Missense_Mutation_p.L501F|FAM190B_uc010qmd.1_Missense_Mutation_p.L501F	p.L501F	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN			3	1695	+			501					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1501C>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130138	0.77549	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.72051	-0.62;1.5;1.39	5.35	5.35	0.76521	.	0.080572	0.49916	N	0.000125	D	0.82903	0.5138	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.994;0.994;0.999	D	0.84478	0.0603	10	0.72032	D	0.01	-7.9728	16.5609	0.84566	0.0:1.0:0.0:0.0	.	501;501;501	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	F	501	ENSP00000353068:L501F;ENSP00000224756:L501F;ENSP00000361160:L501F	ENSP00000224756:L501F	L	+	1	0	FAM190B	86123438	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.476000	0.66793	2.506000	0.84524	0.585000	0.79938	CTC		0.428	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		6	27	0	0	0	0	6	27				
PLCE1	51196	broad.mit.edu	37	10	96064340	96064340	+	Nonsense_Mutation	SNP	C	C	T	rs121912604		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:96064340C>T	ENST00000371380.3	+	24	5795	c.5560C>T	c.(5560-5562)Cag>Tag	p.Q1854*	PLCE1_ENST00000371375.1_Nonsense_Mutation_p.Q1546*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.Q1546*|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.Q1854*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1854					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCCATGTATCAGAAGTTTTC	0.433																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3	GRCh37	CM066176	PLCE1	M	rs121912604	c.(5560-5562)CAG>TAG		phospholipase C, epsilon 1 isoform 1							154.0	141.0	145.0					10																	96064340		1876	4106	5982	SO:0001587	stop_gained	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96064340C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5560C>T	10.37:g.96064340C>T	ENSP00000360431:p.Gln1854*					PLCE1_uc010qnx.1_Nonsense_Mutation_p.Q1838*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.Q1546*|PLCE1_uc001kjp.2_Nonsense_Mutation_p.Q212*	p.Q1854*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			25	6194	+		Colorectal(252;0.0458)	1854					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.5560C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	50	16.247098	0.99858	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.6641	0.95886	0.0:1.0:0.0:0.0	.	.	.	.	X	1854;1854;1546;1546	.	ENSP00000260766:Q1854X	Q	+	1	0	PLCE1	96054330	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.862000	0.69560	2.758000	0.94735	0.561000	0.74099	CAG		0.433	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		18	80	0	0	0	0	18	80				
C10orf76	79591	broad.mit.edu	37	10	103771498	103771498	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:103771498G>C	ENST00000370033.4	-	11	932	c.813C>G	c.(811-813)ttC>ttG	p.F271L		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	271						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTAAAGCAGAGAAAAAACCAC	0.358																																						uc009xwy.1		NA																	0					0						c.(811-813)TTC>TTG		hypothetical protein LOC79591							118.0	117.0	118.0					10																	103771498		1820	4076	5896	SO:0001583	missense	79591					integral to membrane		g.chr10:103771498G>C	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.813C>G	10.37:g.103771498G>C	ENSP00000359050:p.Phe271Leu						p.F271L	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	11	915	-		Colorectal(252;0.123)	271					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.813C>G	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	3.888	-0.024583	0.07589	.	.	ENSG00000120029	ENST00000370033	T	0.61859	0.07	6.17	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	N	0.12569	0.235	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.18147	-1.0346	10	0.02654	T	1	-15.3488	9.1557	0.36992	0.2769:0.0:0.7231:0.0	.	271	Q5T2E6	CJ076_HUMAN	L	271	ENSP00000359050:F271L	ENSP00000359050:F271L	F	-	3	2	C10orf76	103761488	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.225000	0.42954	1.598000	0.50083	0.655000	0.94253	TTC		0.358	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		8	32	0	0	0	0	8	32				
COL17A1	1308	broad.mit.edu	37	10	105793987	105793987	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:105793987C>T	ENST00000353479.5	-	52	4162	c.3872G>A	c.(3871-3873)gGt>gAt	p.G1291D	COL17A1_ENST00000369733.3_Missense_Mutation_p.G1209D	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1291	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGCTGCTACCCCGACTGTG	0.672																																						uc001kxr.2		NA																	0				ovary(4)|pancreas(1)	5						c.(3871-3873)GGT>GAT		alpha 1 type XVII collagen							24.0	22.0	22.0					10																	105793987		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105793987C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3872G>A	10.37:g.105793987C>T	ENSP00000340937:p.Gly1291Asp					COL17A1_uc001kxq.2_5'Flank	p.G1291D	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	52	4041	-		Colorectal(252;0.103)|Breast(234;0.122)	1291			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.3872G>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.734436	0.00687	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.90620	-2.7;-2.7	4.98	2.08	0.27032	.	1.921120	0.02705	N	0.112210	T	0.76842	0.4044	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66208	-0.5981	10	0.18276	T	0.48	5.8433	1.8671	0.03201	0.1938:0.4881:0.1451:0.1729	.	1291	Q9UMD9	COHA1_HUMAN	D	1291;1209	ENSP00000340937:G1291D;ENSP00000358748:G1209D	ENSP00000340937:G1291D	G	-	2	0	COL17A1	105783977	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.254000	0.18314	0.146000	0.19002	-0.311000	0.09066	GGT		0.672	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		4	21	0	0	0	0	4	21				
SORCS1	114815	broad.mit.edu	37	10	108377909	108377909	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:108377909T>A	ENST00000263054.6	-	21	2925	c.2918A>T	c.(2917-2919)tAt>tTt	p.Y973F	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.Y508F|SORCS1_ENST00000344440.6_Missense_Mutation_p.Y973F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	973					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCACTCACCATATACTGCGAT	0.478																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2917-2919)TAT>TTT		SORCS receptor 1 isoform a							243.0	190.0	208.0					10																	108377909		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108377909T>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2918A>T	10.37:g.108377909T>A	ENSP00000263054:p.Tyr973Phe					SORCS1_uc001kyl.2_Missense_Mutation_p.Y973F|SORCS1_uc009xxs.2_Missense_Mutation_p.Y973F|SORCS1_uc001kyn.1_Missense_Mutation_p.Y973F|SORCS1_uc001kyo.2_Missense_Mutation_p.Y973F	p.Y973F	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	21	2926	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	973			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2918A>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363475	0.41902	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.41400	1.0;1.0;1.0	5.36	5.36	0.76844	PKD/Chitinase domain (1);PKD domain (1);	0.140137	0.49916	D	0.000135	T	0.37376	0.1001	N	0.25647	0.755	0.43099	D	0.994787	P;P;P;P;P	0.49961	0.885;0.93;0.93;0.885;0.93	B;P;P;B;P	0.46975	0.333;0.533;0.533;0.333;0.533	T	0.12344	-1.0551	9	.	.	.	-25.4696	15.3536	0.74409	0.0:0.0:0.0:1.0	.	973;973;973;973;973	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	F	508;973;973	ENSP00000358712:Y508F;ENSP00000263054:Y973F;ENSP00000345964:Y973F	.	Y	-	2	0	SORCS1	108367899	1.000000	0.71417	0.948000	0.38648	0.327000	0.28475	7.591000	0.82666	2.023000	0.59567	0.459000	0.35465	TAT		0.478	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		13	61	0	0	0	0	13	61				
KNDC1	85442	broad.mit.edu	37	10	135012615	135012615	+	Missense_Mutation	SNP	G	G	T	rs367837569		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:135012615G>T	ENST00000304613.3	+	14	2624	c.2603G>T	c.(2602-2604)cGg>cTg	p.R868L	KNDC1_ENST00000368571.2_Missense_Mutation_p.R803L|KNDC1_ENST00000368572.2_Missense_Mutation_p.R868L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	868	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)		GAGAGGCCGCGGCCCGCAGAC	0.731																																						uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2602-2604)CGG>CTG		kinase non-catalytic C-lobe domain (KIND)							11.0	13.0	12.0					10																	135012615		2171	4259	6430	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135012615G>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.2603G>T	10.37:g.135012615G>T	ENSP00000304437:p.Arg868Leu					KNDC1_uc001lma.1_Missense_Mutation_p.R803L|KNDC1_uc001lmb.1_Missense_Mutation_p.R280L	p.R868L	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	2604	+		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)	868			Pro-rich.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.2603G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	9.393	1.076106	0.20227	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.19938	2.61;2.61;2.11	3.32	-2.92	0.05615	.	2.017980	0.02875	N	0.132124	T	0.10035	0.0246	N	0.16478	0.41	0.09310	N	1	B;B;B	0.29766	0.256;0.037;0.003	B;B;B	0.30029	0.11;0.018;0.002	T	0.10660	-1.0620	10	0.11485	T	0.65	.	1.2433	0.01967	0.3054:0.1495:0.3936:0.1515	.	868;803;868	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	L	868;868;803	ENSP00000304437:R868L;ENSP00000357561:R868L;ENSP00000357560:R803L	ENSP00000304437:R868L	R	+	2	0	KNDC1	134862605	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.681000	0.05191	-0.625000	0.05604	0.306000	0.20318	CGG		0.731	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		4	12	1	0	0.00024832	0.000464718	4	12				
FRG2B	441581	broad.mit.edu	37	10	135440300	135440300	+	5'Flank	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:135440300G>C	ENST00000425520.1	-	0	0				FRG2B_ENST00000443774.1_5'Flank	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B							nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCAGAGTGTGGGTTAGTCTGC	0.522																																						uc010qvg.1		NA																	0					0						c.e1-1		FSHD region gene 2 family, member B																																				SO:0001631	upstream_gene_variant	441581					nucleus		g.chr10:135440300G>C	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328		10.37:g.135440300G>C	Exception_encountered							NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	1	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)						Q5VSQ1	Splice_Site	SNP	ENST00000425520.1	37	c.-52_splice	CCDS44502.1																																																																																				0.522	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		4	28	0	0	0	0	4	28				
OR51G1	79324	broad.mit.edu	37	11	4945221	4945221	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:4945221G>A	ENST00000321961.2	-	1	416	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGATAACAGAACTGATGAC	0.507																																						uc010qyr.1		NA																	0				ovary(1)|skin(1)	2						c.(349-351)CTG>TTG		olfactory receptor, family 51, subfamily G,							104.0	96.0	99.0					11																	4945221		2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945221G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.349C>T	11.37:g.4945221G>A							p.L117L	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	349	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	117			Helical; Name=3; (Potential).		B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.349C>T	CCDS31366.1																																																																																				0.507	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		10	30	0	0	0	0	10	30				
OR51I2	390064	broad.mit.edu	37	11	5474807	5474807	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5474807C>A	ENST00000341449.2	+	1	170	c.89C>A	c.(88-90)cCc>cAc	p.P30H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	30					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)		CTGTCAGGGCCCCTCTGCGTG	0.557																																						uc010qzf.1		NA																	0				ovary(2)|skin(2)	4						c.(88-90)CCC>CAC		olfactory receptor, family 51, subfamily I,							111.0	94.0	100.0					11																	5474807		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474807C>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.89C>A	11.37:g.5474807C>A	ENSP00000341987:p.Pro30His					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.P30H	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	89	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	30			Helical; Name=1; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.89C>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313192	0.40895	.	.	ENSG00000187918	ENST00000341449	T	0.00382	7.62	5.58	4.65	0.58169	.	0.000000	0.64402	D	0.000004	T	0.01353	0.0044	M	0.93375	3.41	0.35385	D	0.790282	D	0.89917	1.0	D	0.69307	0.963	T	0.26052	-1.0114	10	0.87932	D	0	.	13.6897	0.62537	0.0:0.9241:0.0:0.0759	.	30	Q9H344	O51I2_HUMAN	H	30	ENSP00000341987:P30H	ENSP00000341987:P30H	P	+	2	0	OR51I2	5431383	0.005000	0.15991	0.982000	0.44146	0.144000	0.21451	1.006000	0.29847	2.906000	0.99361	0.655000	0.94253	CCC		0.557	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		19	29	1	0	2.35e-11	5.39e-11	19	29				
TRIM5	85363	broad.mit.edu	37	11	5701005	5701005	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5701005C>A	ENST00000380034.3	-	2	659	c.403G>T	c.(403-405)Gcc>Tcc	p.A135S	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Missense_Mutation_p.A135S|TRIM5_ENST00000305836.5_Missense_Mutation_p.A135S|TRIM5_ENST00000396847.3_Missense_Mutation_p.A135S|TRIM5_ENST00000396855.3_Missense_Mutation_p.A135S|TRIM5_ENST00000380027.1_Missense_Mutation_p.A135S	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	135					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TACTCCCGGGCAACCTCCTCT	0.512																																						uc001mbm.1		NA																	0				ovary(1)	1						c.(403-405)GCC>TCC		tripartite motif protein TRIM5 isoform alpha							115.0	100.0	105.0					11																	5701005		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701005C>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.403G>T	11.37:g.5701005C>A	ENSP00000369373:p.Ala135Ser					TRIM5_uc001mbq.1_Missense_Mutation_p.A135S|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.A135S|TRIM5_uc001mbo.2_Missense_Mutation_p.A135S|TRIM5_uc001mbp.2_Missense_Mutation_p.A135S	p.A135S	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	660	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	135			Potential.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.403G>T	CCDS31393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.58|11.58	1.680444|1.680444	0.29872|0.29872	.|.	.|.	ENSG00000132256|ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903|ENST00000438025	T;T;T;T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33;0.33;0.33;0.33|.	4.07|4.07	4.07|4.07	0.47477|0.47477	.|.	0.665350|.	0.13953|.	N|.	0.351377|.	T|T	0.60064|0.60064	0.2240|0.2240	M|M	0.83483|0.83483	2.645|2.645	0.09310|0.09310	N|N	1|1	P;P;D|.	0.64830|.	0.858;0.864;0.994|.	P;P;P|.	0.56612|.	0.535;0.461;0.802|.	T|T	0.54944|0.54944	-0.8217|-0.8217	10|5	0.72032|.	D|.	0.01|.	.|.	7.9278|7.9278	0.29885|0.29885	0.0:0.8906:0.0:0.1094|0.0:0.8906:0.0:0.1094	.|.	135;135;135|.	Q9C035-3;Q9C035-4;Q9C035|.	.;.;TRIM5_HUMAN|.	S|F	135|11	ENSP00000380064:A135S;ENSP00000307031:A135S;ENSP00000369373:A135S;ENSP00000369366:A135S;ENSP00000380058:A135S;ENSP00000380062:A135S;ENSP00000388031:A135S|.	ENSP00000307031:A135S|.	A|L	-|-	1|3	0|2	TRIM5|TRIM5	5657581|5657581	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.006000|0.006000	0.05464|0.05464	0.744000|0.744000	0.26245|0.26245	2.558000|2.558000	0.86282|0.86282	0.650000|0.650000	0.86243|0.86243	GCC|TTG		0.512	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		11	53	1	0	6.4e-05	0.000123112	11	53				
OR52N1	79473	broad.mit.edu	37	11	5809561	5809561	+	Silent	SNP	A	A	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5809561A>C	ENST00000317078.1	-	1	485	c.486T>G	c.(484-486)acT>acG	p.T162T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGTGAGGAAAGTGGAAGGGA	0.498																																						uc010qzo.1		NA																	0				skin(1)	1						c.(484-486)ACT>ACG		olfactory receptor, family 52, subfamily N,							132.0	113.0	119.0					11																	5809561		2201	4296	6497	SO:0001819	synonymous_variant	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809561A>C	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.486T>G	11.37:g.5809561A>C						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.T162T	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	486	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	162			Helical; Name=4; (Potential).		Q6IFF6	Silent	SNP	ENST00000317078.1	37	c.486T>G	CCDS31398.1																																																																																				0.498	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		10	33	0	0	0	0	10	33				
OR56A1	120796	broad.mit.edu	37	11	6048932	6048932	+	Start_Codon_SNP	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:6048932C>A	ENST00000316650.5	-	1	39	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	1						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGCTGAATCATGAGCTGAG	0.458																																						uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(1-3)ATG>ATT		olfactory receptor, family 56, subfamily A,							117.0	120.0	119.0					11																	6048932		2201	4296	6497	SO:0001582	initiator_codon_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048932C>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.3G>T	11.37:g.6048932C>A	ENSP00000321246:p.Met1Ile						p.M1I	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	3	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	1			Extracellular (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.3G>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559833	0.27827	.	.	ENSG00000180934	ENST00000316650	T	0.00388	7.59	4.03	3.09	0.35607	.	1.696520	0.04269	U	0.341722	T	0.00241	0.0007	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33599	-0.9862	9	0.30078	T	0.28	.	8.3928	0.32540	0.0:0.8861:0.0:0.1139	.	1	Q8NGH5	O56A1_HUMAN	I	1	ENSP00000321246:M1I	ENSP00000321246:M1I	M	-	3	0	OR56A1	6005508	0.517000	0.26226	0.029000	0.17559	0.023000	0.10783	0.894000	0.28350	1.942000	0.56320	0.655000	0.94253	ATG		0.458	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917	Missense_Mutation	31	86	1	0	8.17e-17	1.95e-16	31	86				
ABCC8	6833	broad.mit.edu	37	11	17426158	17426158	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:17426158A>T	ENST00000389817.3	-	28	3526	c.3458T>A	c.(3457-3459)cTg>cAg	p.L1153Q	ABCC8_ENST00000302539.4_Missense_Mutation_p.L1154Q			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1153	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GATGACGGCCAGGGCTGAGAC	0.597																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(3457-3459)CTG>CAG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						92.0	62.0	72.0					11																	17426158		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17426158A>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3458T>A	11.37:g.17426158A>T	ENSP00000374467:p.Leu1153Gln						p.L1153Q	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	28	3584	-			1153			Helical; Name=14; (By similarity).|ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3458T>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.911375	0.92178	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.90955	-2.76;-2.76	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.178302	0.37906	N	0.001887	D	0.96140	0.8742	H	0.95004	3.61	0.58432	D	0.999995	P	0.52842	0.956	P	0.59948	0.866	D	0.97253	0.9899	10	0.87932	D	0	.	15.2903	0.73862	1.0:0.0:0.0:0.0	.	1153	Q09428	ABCC8_HUMAN	Q	1153;1154	ENSP00000374467:L1153Q;ENSP00000303960:L1154Q	ENSP00000303960:L1154Q	L	-	2	0	ABCC8	17382734	1.000000	0.71417	0.888000	0.34837	0.971000	0.66376	9.323000	0.96364	2.005000	0.58758	0.421000	0.28195	CTG		0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		8	12	0	0	0	0	8	12				
SLC17A6	57084	broad.mit.edu	37	11	22396420	22396420	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:22396420C>A	ENST00000263160.3	+	9	1598	c.1161C>A	c.(1159-1161)atC>atA	p.I387I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	387					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGAGAAAGATCATGAATTGTG	0.353																																						uc001mqk.2		NA																	0				ovary(3)|breast(1)	4						c.(1159-1161)ATC>ATA		solute carrier family 17 (sodium-dependent							200.0	198.0	199.0					11																	22396420		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22396420C>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1161C>A	11.37:g.22396420C>A							p.I387I	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			9	1574	+			387			Helical; (Potential).		A6NKS2	Silent	SNP	ENST00000263160.3	37	c.1161C>A	CCDS7856.1																																																																																				0.353	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		24	85	1	0	1.85e-09	4.12e-09	24	85				
OR4A5	81318	broad.mit.edu	37	11	51411502	51411502	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:51411502G>C	ENST00000319760.6	-	1	946	c.894C>G	c.(892-894)ctC>ctG	p.L298L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTTTACCCAAGAGTTTTTCTA	0.353																																						uc001nhi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(892-894)CTC>CTG		olfactory receptor, family 4, subfamily A,							24.0	26.0	26.0					11																	51411502		2195	4294	6489	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411502G>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.894C>G	11.37:g.51411502G>C							p.L298L	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	894	-		all_lung(304;0.236)	298			Cytoplasmic (Potential).		Q6IF84	Silent	SNP	ENST00000319760.6	37	c.894C>G	CCDS31497.1																																																																																				0.353	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		4	10	0	0	0	0	4	10				
OR5D14	219436	broad.mit.edu	37	11	55563722	55563722	+	Missense_Mutation	SNP	C	C	A	rs143761060		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:55563722C>A	ENST00000335605.1	+	1	691	c.691C>A	c.(691-693)Cgt>Agt	p.R231S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACTAAAAATCCGTTCTGTTAG	0.473																																						uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(691-693)CGT>AGT		olfactory receptor, family 5, subfamily D,							145.0	136.0	139.0					11																	55563722		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563722C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.691C>A	11.37:g.55563722C>A	ENSP00000334456:p.Arg231Ser						p.R231S	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	691	+		all_epithelial(135;0.196)	231			Cytoplasmic (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.691C>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	0.167	-1.075289	0.01903	.	.	ENSG00000186113	ENST00000335605	T	0.37235	1.21	5.08	-2.98	0.05513	GPCR, rhodopsin-like superfamily (1);	1.772610	0.03100	N	0.160945	T	0.25044	0.0608	L	0.28400	0.85	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.21177	-1.0253	10	0.40728	T	0.16	1.9449	4.8726	0.13640	0.3427:0.3694:0.0:0.2879	.	231	Q8NGL3	OR5DE_HUMAN	S	231	ENSP00000334456:R231S	ENSP00000334456:R231S	R	+	1	0	OR5D14	55320298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.185000	0.09684	-0.340000	0.08388	-0.148000	0.13756	CGT		0.473	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		15	81	1	0	3.46e-05	6.8e-05	15	81				
OR5L1	219437	broad.mit.edu	37	11	55579653	55579653	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:55579653C>T	ENST00000333973.2	+	1	800	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(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)				GGCACAAAGCCTTCTCCACCT	0.502																																						uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(709-711)GCC>GCT		olfactory receptor, family 5, subfamily L,							190.0	154.0	166.0					11																	55579653		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579653C>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.711C>T	11.37:g.55579653C>T							p.A237A	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	711	+		all_epithelial(135;0.208)	237			Cytoplasmic (Potential).		B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.711C>T	CCDS31509.1																																																																																				0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		23	68	0	0	0	0	23	68				
OR5AR1	219493	broad.mit.edu	37	11	56432020	56432020	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:56432020C>A	ENST00000302969.2	+	1	883	c.859C>A	c.(859-861)Ccc>Acc	p.P287T		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATGTTAAATCCCTTGATCTA	0.408																																						uc010rjm.1		NA																	0					0						c.(859-861)CCC>ACC		olfactory receptor, family 5, subfamily AR,							62.0	61.0	62.0					11																	56432020		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56432020C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.859C>A	11.37:g.56432020C>A	ENSP00000302639:p.Pro287Thr						p.P287T	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	859	+			287			Helical; Name=7; (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.859C>A	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118566	0.56505	.	.	ENSG00000172459	ENST00000302969	T	0.63913	-0.07	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000234	D	0.86045	0.5839	H	0.98918	4.37	0.32883	D	0.510818	D	0.63880	0.993	P	0.58660	0.843	D	0.93119	0.6523	10	0.87932	D	0	.	17.5909	0.87995	0.0:1.0:0.0:0.0	.	287	Q8NGP9	O5AR1_HUMAN	T	287	ENSP00000302639:P287T	ENSP00000302639:P287T	P	+	1	0	OR5AR1	56188596	0.995000	0.38212	0.998000	0.56505	0.864000	0.49448	3.428000	0.52792	2.635000	0.89317	0.573000	0.79308	CCC		0.408	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		10	38	1	0	2.18e-05	4.3e-05	10	38				
OR5B17	219965	broad.mit.edu	37	11	58126434	58126434	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:58126434G>T	ENST00000357377.3	-	1	108	c.109C>A	c.(109-111)Ctg>Atg	p.L37M		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCCCAGTCAGAGTGATGAGG	0.458																																						uc010rke.1		NA																	0				ovary(2)|skin(1)	3						c.(109-111)CTG>ATG		olfactory receptor, family 5, subfamily B,							87.0	87.0	87.0					11																	58126434		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126434G>T	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.109C>A	11.37:g.58126434G>T	ENSP00000349945:p.Leu37Met						p.L37M	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	109	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	37			Helical; Name=1; (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.109C>A	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	7.538	0.660121	0.14645	.	.	ENSG00000197786	ENST00000357377	T	0.00611	6.23	3.6	-4.95	0.03048	.	.	.	.	.	T	0.00580	0.0019	L	0.41824	1.3	0.09310	N	1	P	0.36647	0.563	B	0.34093	0.175	T	0.31194	-0.9952	9	0.42905	T	0.14	-1.4967	12.065	0.53583	0.0:0.5763:0.2992:0.1246	.	37	Q8NGF7	OR5BH_HUMAN	M	37	ENSP00000349945:L37M	ENSP00000349945:L37M	L	-	1	2	OR5B17	57883010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.593000	0.00211	-1.074000	0.03132	-0.514000	0.04452	CTG		0.458	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		10	61	1	0	0.000442599	0.000813707	10	61				
OR4D10	390197	broad.mit.edu	37	11	59245729	59245729	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:59245729C>A	ENST00000530162.1	+	1	884	c.827C>A	c.(826-828)aCt>aAt	p.T276N		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCACCTTCACTGTCATCTCC	0.527																																						uc001nnz.1		NA																	0				ovary(2)|skin(1)	3						c.(826-828)ACT>AAT		olfactory receptor, family 4, subfamily D,							158.0	142.0	148.0					11																	59245729		2201	4295	6496	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245729C>A	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.827C>A	11.37:g.59245729C>A	ENSP00000436424:p.Thr276Asn						p.T276N	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	827	+			276			Helical; Name=7; (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.827C>A	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401892	0.25291	.	.	ENSG00000254466	ENST00000530162	T	0.00267	8.38	4.7	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	M	0.83603	2.65	0.09310	N	1	B	0.26041	0.14	B	0.41202	0.35	T	0.25257	-1.0137	9	0.72032	D	0.01	.	5.9312	0.19140	0.0:0.6685:0.1584:0.1731	.	276	Q8NGI6	OR4DA_HUMAN	N	276	ENSP00000436424:T276N	ENSP00000436424:T276N	T	+	2	0	OR4D10	59002305	0.069000	0.21087	0.580000	0.28601	0.682000	0.39822	1.637000	0.37155	0.499000	0.27970	0.650000	0.86243	ACT		0.527	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		28	113	1	0	2.61e-14	6.17e-14	28	113				
FEN1	2237	broad.mit.edu	37	11	61563897	61563897	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:61563897G>T	ENST00000305885.2	+	2	1477	c.1064G>T	c.(1063-1065)cGc>cTc	p.R355L	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TCAGCTAAGCGCAAGGAGCCA	0.532								Editing and processing nucleases																														uc001nsg.2		NA																	0				ovary(1)	1						c.(1063-1065)CGC>CTC	Direct_reversal_of_damage|Editing_and_processing_nucleases	flap structure-specific endonuclease 1							24.0	27.0	26.0					11																	61563897		2202	4299	6501	SO:0001583	missense	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563897G>T	L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.1064G>T	11.37:g.61563897G>T	ENSP00000305480:p.Arg355Leu						p.R355L	NM_004111	NP_004102	P39748	FEN1_HUMAN			2	1436	+			355						Missense_Mutation	SNP	ENST00000305885.2	37	c.1064G>T	CCDS8010.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003016	0.54254	.	.	ENSG00000168496	ENST00000305885	T	0.28255	1.62	5.22	4.3	0.51218	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.41710	1.295	0.80722	D	1	P	0.44986	0.847	B	0.41764	0.366	T	0.12344	-1.0551	10	0.72032	D	0.01	-18.1594	15.4709	0.75439	0.0:0.0:0.8601:0.1399	.	355	P39748	FEN1_HUMAN	L	355	ENSP00000305480:R355L	ENSP00000305480:R355L	R	+	2	0	FEN1	61320473	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.324000	0.96373	1.321000	0.45227	-0.314000	0.08810	CGC		0.532	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		5	20	1	0	0.000602214	0.00109749	5	20				
PACS1	55690	broad.mit.edu	37	11	65995047	65995047	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:65995047G>T	ENST00000320580.4	+	11	1399	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	PACS1_ENST00000529757.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	456					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GACTGAAACAGACACTCTGGT	0.373																																						uc001oha.1		NA																	0				ovary(6)	6						c.(1366-1368)GAC>TAC		phosphofurin acidic cluster sorting protein 1							64.0	64.0	64.0					11																	65995047		2200	4295	6495	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65995047G>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1366G>T	11.37:g.65995047G>T	ENSP00000316454:p.Asp456Tyr					PACS1_uc010rou.1_5'Flank	p.D456Y	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			11	1500	+			456					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.1366G>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732174	0.30684	.	.	ENSG00000175115	ENST00000320580	T	0.17854	2.25	6.08	6.08	0.98989	.	0.404815	0.29126	N	0.013075	T	0.29190	0.0726	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	T	0.00405	-1.1760	10	0.62326	D	0.03	-31.7844	17.5802	0.87965	0.0:0.0:1.0:0.0	.	456	Q6VY07	PACS1_HUMAN	Y	456	ENSP00000316454:D456Y	ENSP00000316454:D456Y	D	+	1	0	PACS1	65751623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.698000	0.54771	2.894000	0.99253	0.655000	0.94253	GAC		0.373	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		5	23	1	0	1.24e-05	2.47e-05	5	23				
NDUFS8	4728	broad.mit.edu	37	11	67803822	67803822	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:67803822G>C	ENST00000313468.5	+	6	582	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	MIR4691_ENST00000583764.1_RNA|NDUFS8_ENST00000528492.1_Missense_Mutation_p.A13P|TCIRG1_ENST00000265686.3_5'Flank	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	159	4Fe-4S ferredoxin-type 2.				cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						CTGCCAGGAGGCCTGTCCCGT	0.652																																					Colon(116;1205 2770 20054)	uc001onc.2		NA																	0				skin(1)	1						c.(475-477)GCC>CCC		NADH dehydrogenase ubiquinone Fe-S 8 precursor	NADH(DB00157)						43.0	38.0	40.0					11																	67803822		2200	4294	6494	SO:0001583	missense	4728				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67803822G>C	U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.475G>C	11.37:g.67803822G>C	ENSP00000315774:p.Ala159Pro					NDUFS8_uc009ysb.1_RNA|NDUFS8_uc009ysc.1_Missense_Mutation_p.A159P|TCIRG1_uc001ond.1_5'Flank|TCIRG1_uc001one.2_5'Flank	p.A159P	NM_002496	NP_002487	O00217	NDUS8_HUMAN			6	582	+			159			4Fe-4S ferredoxin-type 2.		B2RB86|Q0VDA8	Missense_Mutation	SNP	ENST00000313468.5	37	c.475G>C	CCDS8176.1	.	.	.	.	.	.	.	.	.	.	g	22.2	4.264398	0.80358	.	.	ENSG00000110717	ENST00000313468;ENST00000528492;ENST00000526339	D;D;D	0.92805	-3.11;-3.11;-3.11	4.68	4.68	0.58851	Fumarate reductase, C-terminal (1);4Fe-4S ferredoxin, iron-sulphur binding, conserved site (1);4Fe-4S binding domain (1);4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.106441	0.64402	D	0.000005	D	0.95513	0.8542	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.996	D	0.95988	0.8983	10	0.87932	D	0	.	16.3581	0.83244	0.0:0.0:1.0:0.0	.	159;159	E9PPW7;O00217	.;NDUS8_HUMAN	P	159;13;159	ENSP00000315774:A159P;ENSP00000432848:A13P;ENSP00000436287:A159P	ENSP00000315774:A159P	A	+	1	0	NDUFS8	67560398	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	9.386000	0.97228	2.421000	0.82119	0.651000	0.88453	GCC		0.652	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		7	35	0	0	0	0	7	35				
KRTAP5-7	440050	broad.mit.edu	37	11	71238392	71238393	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:71238392_71238393GG>AT	ENST00000398536.4	+	1	80_81	c.46_47GG>AT	c.(46-48)GGc>ATc	p.G16I		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	16						keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CGGCTGTGGGGGCTGTGGCTCC	0.658																																						uc001oqq.1		NA																	0					0						c.(46-48)GGC>ATC		keratin associated protein 5-7																																				SO:0001583	missense	440050					keratin filament		g.chr11:71238392_71238393GG>AT	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	Exception_encountered	11.37:g.71238392_71238393delinsAT	ENSP00000417330:p.Gly16Ile						p.G16I	NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN			1	80_81	+			16					B2RNM3|Q701N5	Missense_Mutation	DNP	ENST00000398536.4	37	c.46_47GG>AT	CCDS41682.1																																																																																				0.658	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			345	193	0	0	0	0	345	193				
MMP8	4317	broad.mit.edu	37	11	102595499	102595499	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:102595499T>C	ENST00000236826.3	-	1	186	c.88A>G	c.(88-90)Aca>Gca	p.T30A		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	30					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ACAGTTTTTGTATTTTTCTCT	0.363																																						uc001phe.2		NA																	0				ovary(3)|breast(1)	4						c.(88-90)ACA>GCA		matrix metalloproteinase 8 preproprotein							131.0	154.0	146.0					11																	102595499		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102595499T>C	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.88A>G	11.37:g.102595499T>C	ENSP00000236826:p.Thr30Ala					MMP8_uc010rut.1_5'Flank|MMP8_uc010ruu.1_Translation_Start_Site	p.T30A	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	1	187	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	30					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.88A>G	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.47|10.47	1.358558|1.358558	0.24598|0.24598	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000236826|ENST00000438475	T|.	0.35421|.	1.31|.	5.09|5.09	-3.17|-3.17	0.05202|0.05202	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);|.	2.332680|.	0.01575|.	N|.	0.020740|.	T|T	0.18173|0.18173	0.0436|0.0436	N|N	0.10972|0.10972	0.075|0.075	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.12837|.	0.008|.	T|T	0.30504|0.30504	-0.9976|-0.9976	10|5	0.18710|.	T|.	0.47|.	.|.	10.7126|10.7126	0.45993|0.45993	0.0:0.4838:0.0:0.5162|0.0:0.4838:0.0:0.5162	.|.	30|.	P22894|.	MMP8_HUMAN|.	A|C	30|5	ENSP00000236826:T30A|.	ENSP00000236826:T30A|.	T|Y	-|-	1|2	0|0	MMP8|MMP8	102100709|102100709	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.686000|-0.686000	0.05161|0.05161	-0.829000|-0.829000	0.04268|0.04268	-0.297000|-0.297000	0.09499|0.09499	ACA|TAC		0.363	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		39	116	0	0	0	0	39	116				
GRAMD1B	57476	broad.mit.edu	37	11	123480966	123480966	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:123480966C>T	ENST00000529750.1	+	13	1737	c.1410C>T	c.(1408-1410)caC>caT	p.H470H	GRAMD1B_ENST00000456860.2_Silent_p.H477H|GRAMD1B_ENST00000322282.7_Silent_p.H470H|GRAMD1B_ENST00000450171.2_Silent_p.H161H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	470						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCCTCACCCACGACGTGCCCT	0.542																																						uc001pyx.2		NA																	0				ovary(1)	1						c.(1408-1410)CAC>CAT		GRAM domain containing 1B							119.0	118.0	118.0					11																	123480966		2073	4206	6279	SO:0001819	synonymous_variant	57476					integral to membrane		g.chr11:123480966C>T	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1410C>T	11.37:g.123480966C>T						GRAMD1B_uc001pyw.2_Silent_p.H477H|GRAMD1B_uc010rzw.1_Silent_p.H430H|GRAMD1B_uc010rzx.1_Silent_p.H430H|GRAMD1B_uc001pyy.2_Silent_p.H161H	p.H470H	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	13	1739	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	470					Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	37	c.1410C>T	CCDS53720.1																																																																																				0.542	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		17	46	0	0	0	0	17	46				
OR8B3	390271	broad.mit.edu	37	11	124266426	124266426	+	Silent	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:124266426A>T	ENST00000354597.3	-	1	838	c.822T>A	c.(820-822)tcT>tcA	p.S274S		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGTAGAAAACAGAAGAAACTT	0.403																																						uc010saj.1		NA																	0				ovary(1)|skin(1)	2						c.(820-822)TCT>TCA		olfactory receptor, family 8, subfamily B,							60.0	67.0	65.0					11																	124266426		2200	4298	6498	SO:0001819	synonymous_variant	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266426A>T	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.822T>A	11.37:g.124266426A>T						OR8B2_uc001qab.3_Intron	p.S274S	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	822	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	274			Helical; Name=7; (Potential).		Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	c.822T>A	CCDS31709.1																																																																																				0.403	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		16	65	0	0	0	0	16	65				
ADAMTS8	11095	broad.mit.edu	37	11	130286106	130286106	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:130286106A>G	ENST00000257359.6	-	4	1922	c.1216T>C	c.(1216-1218)Tcc>Ccc	p.S406P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	406	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTGCAGGGGGACCAGGGCAGC	0.677																																						uc001qgg.3		NA																	0				central_nervous_system(1)	1						c.(1216-1218)TCC>CCC		ADAM metallopeptidase with thrombospondin type 1							22.0	29.0	27.0					11																	130286106		2065	4181	6246	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130286106A>G	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1216T>C	11.37:g.130286106A>G	ENSP00000257359:p.Ser406Pro						p.S406P	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	4	1574	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	406			Peptidase M12B.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1216T>C	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	A	32	5.155207	0.94686	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.92446	-3.04	5.25	5.25	0.73442	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98688	1.0695	10	0.87932	D	0	.	15.453	0.75290	1.0:0.0:0.0:0.0	.	406	Q9UP79	ATS8_HUMAN	P	406;435	ENSP00000257359:S406P	ENSP00000257359:S406P	S	-	1	0	ADAMTS8	129791316	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.910000	0.92685	2.111000	0.64477	0.533000	0.62120	TCC		0.677	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		2	4	0	0	0	0	2	4				
CACNA1C	775	broad.mit.edu	37	12	2690864	2690864	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:2690864G>T	ENST00000347598.4	+	14	2004	c.2004G>T	c.(2002-2004)ctG>ctT	p.L668L	CACNA1C_ENST00000480911.1_Silent_p.L668L|CACNA1C_ENST00000399606.1_Silent_p.L668L|CACNA1C_ENST00000399597.1_Silent_p.L668L|CACNA1C_ENST00000399603.1_Silent_p.L668L|CACNA1C_ENST00000399637.1_Silent_p.L668L|CACNA1C_ENST00000399595.1_Silent_p.L668L|CACNA1C_ENST00000399655.1_Silent_p.L668L|CACNA1C_ENST00000327702.7_Silent_p.L668L|CACNA1C_ENST00000402845.3_Silent_p.L668L|CACNA1C_ENST00000406454.3_Silent_p.L668L|CACNA1C_ENST00000399591.1_Silent_p.L668L|CACNA1C_ENST00000399649.1_Silent_p.L668L|CACNA1C_ENST00000399601.1_Silent_p.L668L|CACNA1C_ENST00000399644.1_Silent_p.L668L|CACNA1C_ENST00000399621.1_Silent_p.L668L|CACNA1C_ENST00000399638.1_Silent_p.L668L|CACNA1C_ENST00000335762.5_Silent_p.L693L|CACNA1C_ENST00000344100.3_Silent_p.L668L|CACNA1C_ENST00000399641.1_Silent_p.L668L|CACNA1C_ENST00000399629.1_Silent_p.L668L|CACNA1C_ENST00000399634.1_Silent_p.L668L|CACNA1C_ENST00000399617.1_Silent_p.L668L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	668					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	tctccctcctGGGGATGCAGC	0.537																																						uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(2002-2004)CTG>CTT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						96.0	97.0	97.0					12																	2690864		2203	4300	6503	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2690864G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2004G>T	12.37:g.2690864G>T						CACNA1C_uc009zdv.1_Silent_p.L665L|CACNA1C_uc001qkb.2_Silent_p.L668L|CACNA1C_uc001qkc.2_Silent_p.L668L|CACNA1C_uc001qke.2_Silent_p.L668L|CACNA1C_uc001qkf.2_Silent_p.L668L|CACNA1C_uc001qjz.2_Silent_p.L668L|CACNA1C_uc001qkd.2_Silent_p.L668L|CACNA1C_uc001qkg.2_Silent_p.L668L|CACNA1C_uc009zdw.1_Silent_p.L668L|CACNA1C_uc001qkh.2_Silent_p.L668L|CACNA1C_uc001qkl.2_Silent_p.L668L|CACNA1C_uc001qkn.2_Silent_p.L668L|CACNA1C_uc001qko.2_Silent_p.L668L|CACNA1C_uc001qkp.2_Silent_p.L668L|CACNA1C_uc001qkr.2_Silent_p.L668L|CACNA1C_uc001qku.2_Silent_p.L668L|CACNA1C_uc001qkq.2_Silent_p.L668L|CACNA1C_uc001qks.2_Silent_p.L668L|CACNA1C_uc001qkt.2_Silent_p.L668L|CACNA1C_uc001qka.1_Silent_p.L203L|CACNA1C_uc001qki.1_Silent_p.L404L|CACNA1C_uc001qkj.1_Silent_p.L404L|CACNA1C_uc001qkk.1_Silent_p.L404L|CACNA1C_uc001qkm.1_Silent_p.L404L|CACNA1C_uc001qkw.2_5'Flank	p.L668L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	14	2317	+			668			II.|Helical; Name=S5 of repeat II; (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.2004G>T	CCDS44788.1																																																																																				0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		4	29	1	0	0.00024832	0.000464718	4	29				
FOXJ2	55810	broad.mit.edu	37	12	8196611	8196611	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:8196611G>T	ENST00000162391.3	+	5	1687	c.542G>T	c.(541-543)gGa>gTa	p.G181V	FOXJ2_ENST00000428177.2_Missense_Mutation_p.G181V	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	181					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCAGGGAGTGGAGAAGCCTCA	0.542																																						uc001qtu.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(541-543)GGA>GTA		forkhead box J2							75.0	73.0	74.0					12																	8196611		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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	g.chr12:8196611G>T	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.542G>T	12.37:g.8196611G>T	ENSP00000162391:p.Gly181Val					FOXJ2_uc001qtt.1_Missense_Mutation_p.G181V	p.G181V	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	5	1627	+			181					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.542G>T	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138400	0.37728	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95482	-3.51;-3.72	5.2	4.29	0.51040	.	0.949345	0.08721	N	0.903499	D	0.93756	0.8004	L	0.36672	1.1	0.58432	D	0.999991	P;P	0.40931	0.614;0.733	B;P	0.44811	0.199;0.461	D	0.87823	0.2639	10	0.42905	T	0.14	.	11.6072	0.51039	0.0:0.1798:0.8202:0.0	.	181;181	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	V	181	ENSP00000162391:G181V;ENSP00000403411:G181V	ENSP00000162391:G181V	G	+	2	0	FOXJ2	8087878	1.000000	0.71417	0.998000	0.56505	0.685000	0.39939	3.098000	0.50259	1.149000	0.42402	0.561000	0.74099	GGA		0.542	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		20	89	1	0	7.21e-19	1.74e-18	20	89				
GRIN2B	2904	broad.mit.edu	37	12	13716163	13716163	+	Missense_Mutation	SNP	C	C	G	rs201335987		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:13716163C>G	ENST00000609686.1	-	13	4218	c.4009G>C	c.(4009-4011)Gcc>Ccc	p.A1337P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1337					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)	AACATGTGGGCGTAGGGGCTC	0.612																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(4009-4011)GCC>CCC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						58.0	59.0	58.0					12																	13716163		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.chr12:13716163C>G		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.4009G>C	12.37:g.13716163C>G	ENSP00000477455:p.Ala1337Pro						p.A1337P	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	4188	-			1337			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.4009G>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651897	0.67472	.	.	ENSG00000150086	ENST00000279593	T	0.24350	1.86	5.04	4.15	0.48705	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	D	0.69307	0.963	T	0.40776	-0.9545	10	0.72032	D	0.01	.	14.9776	0.71286	0.1438:0.8562:0.0:0.0	.	1337	Q13224	NMDE2_HUMAN	P	1337	ENSP00000279593:A1337P	ENSP00000279593:A1337P	A	-	1	0	GRIN2B	13607430	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.302000	0.78861	1.324000	0.45282	0.514000	0.50259	GCC		0.612	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			28	67	0	0	0	0	28	67				
SLCO1B3	28234	broad.mit.edu	37	12	20968719	20968719	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:20968719C>G	ENST00000381545.3	+	3	266	c.47C>G	c.(46-48)tCa>tGa	p.S16*	SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.S16*|LST3_ENST00000540229.1_Nonsense_Mutation_p.S16*|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.S16*|LST3_ENST00000381541.3_Nonsense_Mutation_p.S16*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.S16*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	16					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TCAGCATCTTCAGAGAAAAAG	0.299																																						uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(46-48)TCA>TGA		solute carrier organic anion transporter family,							63.0	64.0	64.0					12																	20968719		2203	4296	6499	SO:0001587	stop_gained	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:20968719C>G		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.47C>G	12.37:g.20968719C>G	ENSP00000370956:p.Ser16*					SLCO1B3_uc001rel.2_Nonsense_Mutation_p.S16*|SLCO1B3_uc010sil.1_Nonsense_Mutation_p.S16*|LST-3TM12_uc010sim.1_Nonsense_Mutation_p.S16*	p.S16*	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			2	173	+	Esophageal squamous(101;0.149)		16			Cytoplasmic (Potential).		E7EMT8|Q5JAR4	Nonsense_Mutation	SNP	ENST00000381545.3	37	c.47C>G	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109312	0.77096	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	.	.	.	2.15	1.19	0.21007	.	0.731717	0.11436	N	0.564286	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.148	0.14994	0.0:0.8189:0.0:0.1811	.	.	.	.	X	16	.	ENSP00000370952:S16X	S	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20859986	0.001000	0.12720	0.001000	0.08648	0.314000	0.28054	0.998000	0.29744	0.441000	0.26529	0.305000	0.20034	TCA		0.299	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		8	39	0	0	0	0	8	39				
SLCO1B7	338821	broad.mit.edu	37	12	21196321	21196321	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:21196321G>T	ENST00000421593.2	+	6	640	c.640G>T	c.(640-642)Ggt>Tgt	p.G214C	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G261C|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.G261C|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGGTGGCTTGGTTTCCTTGT	0.363																																						uc010sin.1		NA																	0					0						c.(640-642)GGT>TGT		liver-specific organic anion transporter 3TM12							180.0	183.0	182.0					12																	21196321		2203	4300	6503	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21196321G>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.640G>T	12.37:g.21196321G>T	ENSP00000394168:p.Gly214Cys					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.G261C	p.G214C	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			6	640	+			214					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.640G>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	13.46	2.242459	0.39598	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.57907	0.37;0.37;0.37	3.03	2.09	0.27110	.	0.105878	0.64402	D	0.000004	T	0.74283	0.3696	M	0.92649	3.33	0.42162	D	0.991601	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75473	-0.3305	10	0.87932	D	0	.	7.8699	0.29561	0.1299:0.0:0.8701:0.0	.	214;261	G3V0H7;F5H094	.;.	C	261;261;214	ENSP00000370952:G261C;ENSP00000452013:G261C;ENSP00000394168:G214C	ENSP00000370952:G261C	G	+	1	0	SLCO1B7;RP11-545J16.1	21087588	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	1.138000	0.31491	0.556000	0.29098	0.305000	0.20034	GGT		0.363	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		21	139	1	0	7.42e-09	1.63e-08	21	139				
SOX5	6660	broad.mit.edu	37	12	23689547	23689547	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:23689547C>G	ENST00000451604.2	-	14	1929	c.1828G>C	c.(1828-1830)Gcc>Ccc	p.A610P	SOX5_ENST00000546136.1_Missense_Mutation_p.A597P|SOX5_ENST00000381381.2_Missense_Mutation_p.A489P|SOX5_ENST00000541536.1_Missense_Mutation_p.A489P|SOX5_ENST00000396007.2_Missense_Mutation_p.A224P|SOX5_ENST00000537393.1_Missense_Mutation_p.A575P|SOX5_ENST00000309359.1_Missense_Mutation_p.A597P|SOX5_ENST00000545921.1_Missense_Mutation_p.A600P			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	610					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGAGACGGGCTTGCTCCTCA	0.493																																						uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(1828-1830)GCC>CCC		SRY (sex determining region Y)-box 5 isoform a							127.0	112.0	117.0					12																	23689547		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23689547C>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1828G>C	12.37:g.23689547C>G	ENSP00000398273:p.Ala610Pro					SOX5_uc001rfx.2_Missense_Mutation_p.A597P|SOX5_uc001rfy.2_Missense_Mutation_p.A489P|SOX5_uc001rfv.2_Missense_Mutation_p.A224P|SOX5_uc010siv.1_Missense_Mutation_p.A597P|SOX5_uc010siw.1_RNA	p.A610P	NM_006940	NP_008871	P35711	SOX5_HUMAN			14	1930	-			610			HMG box.		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1828G>C	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	36	5.689603	0.96784	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	D;D;D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	5.6	5.6	0.85130	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	M	0.91561	3.22	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.999;0.978	D;D;P	0.81914	0.991;0.995;0.774	D	0.99445	1.0939	10	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	489;610;224	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	P	597;597;489;610;575;489;224;600	ENSP00000437487:A597P;ENSP00000308927:A597P;ENSP00000370788:A489P;ENSP00000398273:A610P;ENSP00000439832:A575P;ENSP00000441973:A489P;ENSP00000379328:A224P;ENSP00000443520:A600P	ENSP00000308927:A597P	A	-	1	0	SOX5	23580814	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.763000	0.85283	2.788000	0.95919	0.650000	0.86243	GCC		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		31	89	0	0	0	0	31	89				
IPO8	10526	broad.mit.edu	37	12	30792543	30792543	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:30792543G>A	ENST00000256079.4	-	21	2733	c.2395C>T	c.(2395-2397)Cat>Tat	p.H799Y	IPO8_ENST00000544829.1_Missense_Mutation_p.H594Y	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	799					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTAAAGTATGTAGCAGCAAA	0.403																																						uc001rjd.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2395-2397)CAT>TAT		importin 8							183.0	169.0	174.0					12																	30792543		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30792543G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2395C>T	12.37:g.30792543G>A	ENSP00000256079:p.His799Tyr					IPO8_uc001rje.1_Missense_Mutation_p.H288Y|IPO8_uc010sjt.1_Missense_Mutation_p.H594Y	p.H799Y	NM_006390	NP_006381	O15397	IPO8_HUMAN			21	2565	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		799					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.2395C>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930730	0.52866	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.66460	-0.21;-0.21	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.272597	0.40640	N	0.001046	T	0.69477	0.3115	L	0.55990	1.75	0.42219	D	0.991846	P;P;P	0.48589	0.912;0.523;0.828	P;B;B	0.49887	0.625;0.269;0.296	T	0.73905	-0.3835	10	0.72032	D	0.01	-12.5833	13.3538	0.60617	0.0:0.0:0.8421:0.1579	.	594;275;799	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	Y	799;275;594	ENSP00000256079:H799Y;ENSP00000444520:H594Y	ENSP00000256079:H799Y	H	-	1	0	IPO8	30683810	0.995000	0.38212	0.822000	0.32727	0.994000	0.84299	2.281000	0.43452	2.348000	0.79779	0.557000	0.71058	CAT		0.403	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		25	49	0	0	0	0	25	49				
ACVRL1	94	broad.mit.edu	37	12	52309931	52309931	+	Missense_Mutation	SNP	C	C	A	rs368057934		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:52309931C>A	ENST00000388922.4	+	8	1443	c.1160C>A	c.(1159-1161)aCg>aAg	p.T387K	ACVRL1_ENST00000550683.1_Missense_Mutation_p.T401K|ACVRL1_ENST00000419526.2_Missense_Mutation_p.T213K	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	387	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAGATCCGCACGGACTGCTTT	0.612																																						uc001rzj.2		NA																	0				lung(2)	2						c.(1159-1161)ACG>AAG		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						100.0	85.0	90.0					12																	52309931		2203	4300	6503	SO:0001583	missense	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309931C>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1160C>A	12.37:g.52309931C>A	ENSP00000373574:p.Thr387Lys					ACVRL1_uc001rzk.2_Missense_Mutation_p.T387K|ACVRL1_uc010snm.1_Missense_Mutation_p.T213K	p.T387K	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	8	1443	+			387			Cytoplasmic (Potential).|Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.1160C>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264517	0.23136	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93247	-3.19;-3.19;-3.19	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000294	D	0.91040	0.7181	L	0.49513	1.565	0.58432	D	0.999992	B;P	0.49961	0.018;0.93	B;B	0.44085	0.007;0.44	D	0.90085	0.4173	10	0.40728	T	0.16	.	12.8511	0.57858	0.0:0.9206:0.0:0.0794	.	213;387	E7EN07;P37023	.;ACVL1_HUMAN	K	387;387;401;213;213	ENSP00000373574:T387K;ENSP00000447884:T401K;ENSP00000392492:T213K	ENSP00000267008:T387K	T	+	2	0	ACVRL1	50596198	0.113000	0.22115	0.975000	0.42487	0.511000	0.34104	2.503000	0.45407	2.763000	0.94921	0.563000	0.77884	ACG		0.612	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			11	54	1	0	0.000673444	0.00122373	11	54				
MARS	4141	broad.mit.edu	37	12	57908991	57908991	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:57908991A>G	ENST00000262027.5	+	18	2397	c.2263A>G	c.(2263-2265)Atg>Gtg	p.M755V	MARS_ENST00000315473.5_Missense_Mutation_p.M521V|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	755					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCTCTCTGTCATGCTTCAGCC	0.547																																						uc001sog.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2263-2265)ATG>GTG		methionyl-tRNA synthetase	L-Methionine(DB00134)						103.0	87.0	92.0					12																	57908991		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57908991A>G	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2263A>G	12.37:g.57908991A>G	ENSP00000262027:p.Met755Val					MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.M521V|MARS_uc001soh.1_3'UTR	p.M755V	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		18	2286	+			755					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.2263A>G	CCDS8942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.97|13.97	2.394537|2.394537	0.42512|0.42512	.|.	.|.	ENSG00000166986|ENSG00000166986	ENST00000547665|ENST00000262027;ENST00000315473	.|T;T	.|0.41065	.|1.01;1.01	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	.|0.081921	.|0.85682	.|D	.|0.000000	T|T	0.27349|0.27349	0.0671|0.0671	N|N	0.17872|0.17872	0.535|0.535	0.51233|0.51233	D|D	0.999916|0.999916	.|B;B	.|0.11235	.|0.001;0.004	.|B;B	.|0.13407	.|0.002;0.009	T|T	0.08269|0.08269	-1.0730|-1.0730	5|10	.|0.32370	.|T	.|0.25	-24.7088|-24.7088	9.8151|9.8151	0.40846|0.40846	0.9188:0.0:0.0812:0.0|0.9188:0.0:0.0812:0.0	.|.	.|521;755	.|A6NC17;P56192	.|.;SYMC_HUMAN	R|V	20|755;521	.|ENSP00000262027:M755V;ENSP00000314653:M521V	.|ENSP00000262027:M755V	H|M	+|+	2|1	0|0	MARS|MARS	56195258|56195258	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.944000|0.944000	0.59088|0.59088	2.682000|2.682000	0.46934|0.46934	2.178000|2.178000	0.69098|0.69098	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.547	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		44	42	0	0	0	0	44	42				
ARHGEF25	115557	broad.mit.edu	37	12	58009731	58009731	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:58009731C>T	ENST00000286494.4	+	13	1811	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.P490S|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	451	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCTGCAGACCCTGCTATCAG	0.592																																						uc001spb.2		NA																	0					0						c.(1351-1353)CCT>TCT		RhoA/RAC/CDC42 exchange factor isoform 1							131.0	126.0	128.0					12																	58009731		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58009731C>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1351C>T	12.37:g.58009731C>T	ENSP00000286494:p.Pro451Ser					GEFT_uc009zpy.2_Missense_Mutation_p.P490S|GEFT_uc001spa.2_Missense_Mutation_p.P345S|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.P156S	p.P451S	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			13	1811	+	Melanoma(17;0.122)		451			PH.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1351C>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	N	12.30	1.896627	0.33535	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.26957	1.7;1.7	4.87	2.99	0.34606	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.494365	0.15581	N	0.254916	T	0.18800	0.0451	L	0.37697	1.125	0.40060	D	0.975889	B;B	0.15719	0.014;0.001	B;B	0.16722	0.016;0.001	T	0.05225	-1.0898	10	0.23891	T	0.37	.	8.6273	0.33897	0.0:0.7609:0.1533:0.0857	.	490;451	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	S	490;451	ENSP00000335560:P490S;ENSP00000286494:P451S	ENSP00000286494:P451S	P	+	1	0	ARHGEF25	56295998	0.994000	0.37717	0.999000	0.59377	0.933000	0.57130	1.674000	0.37544	0.748000	0.32831	-0.300000	0.09419	CCT		0.592	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		25	105	0	0	0	0	25	105				
NAV3	89795	broad.mit.edu	37	12	78562638	78562638	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:78562638C>A	ENST00000397909.2	+	24	5146	c.4973C>A	c.(4972-4974)cCt>cAt	p.P1658H	NAV3_ENST00000266692.7_Missense_Mutation_p.P1481H|NAV3_ENST00000228327.6_Missense_Mutation_p.P1658H|NAV3_ENST00000536525.2_Missense_Mutation_p.P1658H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1658						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCAGACCATCCTCCCAAAGGT	0.378										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4972-4974)CCT>CAT		neuron navigator 3							67.0	68.0	68.0					12																	78562638		1830	4066	5896	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78562638C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4973C>A	12.37:g.78562638C>A	ENSP00000381007:p.Pro1658His	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.P1658H|NAV3_uc010sub.1_Missense_Mutation_p.P1144H|NAV3_uc009zsf.2_Missense_Mutation_p.P489H	p.P1658H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			24	5146	+			1658					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4973C>A		.	.	.	.	.	.	.	.	.	.	C	16.85	3.236996	0.58886	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21	5.27	4.31	0.51392	.	0.189884	0.25397	U	0.030967	D	0.87107	0.6095	N	0.22421	0.69	0.80722	D	1	P;B;P;B	0.44309	0.626;0.12;0.832;0.372	B;B;B;B	0.40534	0.289;0.096;0.332;0.206	D	0.85120	0.0968	10	0.22109	T	0.4	-18.0873	13.3469	0.60578	0.1573:0.8427:0.0:0.0	.	1658;1481;1658;1658	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	H	1658;1658;1658;1481;279;287	ENSP00000446132:P1658H;ENSP00000381007:P1658H;ENSP00000228327:P1658H;ENSP00000266692:P1481H;ENSP00000448303:P287H	ENSP00000228327:P1658H	P	+	2	0	NAV3	77086769	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	2.428000	0.44749	2.619000	0.88677	0.650000	0.86243	CCT		0.378	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		19	75	1	0	1.16e-05	2.31e-05	19	75				
UTP20	27340	broad.mit.edu	37	12	101679354	101679354	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:101679354G>A	ENST00000261637.4	+	3	307	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	45					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACAGGAGGTTGAAACCTACTT	0.308																																						uc001tia.1		NA																	0				ovary(2)|breast(2)	4						c.(133-135)GAA>AAA		down-regulated in metastasis							115.0	117.0	116.0					12																	101679354		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101679354G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.133G>A	12.37:g.101679354G>A	ENSP00000261637:p.Glu45Lys					UTP20_uc009ztz.1_Missense_Mutation_p.E45K	p.E45K	NM_014503	NP_055318	O75691	UTP20_HUMAN			3	289	+			45					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.133G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296941	0.95574	.	.	ENSG00000120800	ENST00000261637	T	0.41400	1.0	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.63010	0.2475	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.59348	-0.7471	10	0.31617	T	0.26	-21.7195	18.8329	0.92148	0.0:0.0:1.0:0.0	.	45	O75691	UTP20_HUMAN	K	45	ENSP00000261637:E45K	ENSP00000261637:E45K	E	+	1	0	UTP20	100203485	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.605000	0.98321	2.500000	0.84329	0.650000	0.86243	GAA		0.308	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		20	50	0	0	0	0	20	50				
NCOR2	9612	broad.mit.edu	37	12	124862827	124862827	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:124862827G>A	ENST00000405201.1	-	18	2123	c.2123C>T	c.(2122-2124)tCg>tTg	p.S708L	NCOR2_ENST00000397355.1_Missense_Mutation_p.S708L|NCOR2_ENST00000404621.1_Missense_Mutation_p.S707L|NCOR2_ENST00000429285.2_Missense_Mutation_p.S707L|NCOR2_ENST00000356219.3_Missense_Mutation_p.S708L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S278L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	708					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)		GCTCACGCCCGACGCCTCCAT	0.667																																						uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(2122-2124)TCG>TTG		nuclear receptor co-repressor 2 isoform 2							83.0	102.0	95.0					12																	124862827		2146	4246	6392	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.chr12:124862827G>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.2123C>T	12.37:g.124862827G>A	ENSP00000384018:p.Ser708Leu					NCOR2_uc010tay.1_Missense_Mutation_p.S708L|NCOR2_uc010taz.1_Missense_Mutation_p.S708L|NCOR2_uc010tbb.1_Missense_Mutation_p.S708L|NCOR2_uc010tbc.1_Missense_Mutation_p.S707L|NCOR2_uc001ugj.1_Missense_Mutation_p.S708L	p.S708L	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	2240	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		708					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2123C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704241	0.30232	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000448614	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000001	T	0.59702	0.2213	L	0.49126	1.545	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.988;0.988;0.995	T	0.64774	-0.6328	10	0.87932	D	0	-18.9284	17.3179	0.87228	0.0:0.0:1.0:0.0	.	707;708;708	C9J0Q5;C9J239;C9JFD3	.;.;.	L	708;707;708;708;708;278;707;708;98	ENSP00000384018:S708L;ENSP00000384202:S707L;ENSP00000348551:S708L;ENSP00000380513:S708L;ENSP00000385618:S278L;ENSP00000400281:S707L;ENSP00000402808:S708L;ENSP00000408247:S98L	ENSP00000348551:S708L	S	-	2	0	NCOR2	123428780	1.000000	0.71417	0.072000	0.20136	0.157000	0.22087	8.858000	0.92256	2.154000	0.67381	0.462000	0.41574	TCG		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		24	50	0	0	0	0	24	50				
RIMBP2	23504	broad.mit.edu	37	12	130926854	130926854	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:130926854C>A	ENST00000261655.4	-	8	1155	c.992G>T	c.(991-993)aGc>aTc	p.S331I	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S239I|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S239I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	331	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GACGTTGTAGCTGCTCACCGT	0.562																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(991-993)AGC>ATC		RIM-binding protein 2							181.0	168.0	172.0					12																	130926854		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130926854C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.992G>T	12.37:g.130926854C>A	ENSP00000261655:p.Ser331Ile					RIMBP2_uc001uim.2_Missense_Mutation_p.S239I|RIMBP2_uc001uin.1_5'UTR	p.S331I	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1156	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	331			Fibronectin type-III 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.992G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	c	14.19	2.460170	0.43736	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.55052	0.54;0.54;0.54	4.27	3.37	0.38596	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.160012	0.56097	D	0.000026	T	0.48909	0.1526	M	0.72894	2.215	0.45025	D	0.998043	B;P	0.39216	0.121;0.664	B;B	0.30572	0.042;0.117	T	0.56541	-0.7962	10	0.72032	D	0.01	-12.7765	14.1452	0.65347	0.0:0.8489:0.1511:0.0	.	239;331	O15034-2;O15034	.;RIMB2_HUMAN	I	331;239;239;239	ENSP00000261655:S331I;ENSP00000440347:S239I;ENSP00000439159:S239I	ENSP00000261655:S331I	S	-	2	0	RIMBP2	129492807	1.000000	0.71417	0.644000	0.29465	0.847000	0.48162	6.043000	0.71004	0.757000	0.33036	0.431000	0.28591	AGC		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		19	99	1	0	1.96e-10	4.44e-10	19	99				
MRPL57	78988	broad.mit.edu	37	13	21751049	21751049	+	Splice_Site	SNP	A	A	C	rs367621487	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:21751049A>C	ENST00000309594.4	+	2	73		c.e2-1		SKA3_ENST00000400018.3_5'Flank|SKA3_ENST00000314759.5_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN							translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		TCTCTTCCGCAGGCACCATGT	0.716																																						uc001unw.2		NA																	0					0						c.e2-2		mitochondrial ribosomal protein 63							19.0	23.0	22.0					13																	21751049		2169	4236	6405	SO:0001630	splice_region_variant	78988							g.chr13:21751049A>C																												ENST00000309594.4:c.-5-1A>C	13.37:g.21751049A>C						SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank		NM_024026	NP_076931	Q9BQC6	RT63_HUMAN		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)	2	486	+		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)						A2A332	Splice_Site	SNP	ENST00000309594.4	37	c.-4_splice	CCDS9296.1																																																																																				0.716	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2		Intron	3	46	0	0	0	0	3	46				
PARP4	143	broad.mit.edu	37	13	25033197	25033197	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:25033197A>T	ENST00000381989.3	-	20	2514	c.2409T>A	c.(2407-2409)caT>caA	p.H803Q	PARP4_ENST00000480576.1_5'UTR	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	803					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTTTCAGTTCATGTGTATCAC	0.333																																						uc001upl.2		NA																	0				ovary(3)|skin(1)	4						c.(2407-2409)CAT>CAA		poly (ADP-ribose) polymerase family, member 4							93.0	90.0	91.0					13																	25033197		2200	4300	6500	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25033197A>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2409T>A	13.37:g.25033197A>T	ENSP00000371419:p.His803Gln					PARP4_uc010tdc.1_Missense_Mutation_p.H803Q	p.H803Q	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	20	2515	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	803					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2409T>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950347	0.34377	.	.	ENSG00000102699	ENST00000381989	T	0.02709	4.19	4.48	-2.84	0.05751	.	0.058491	0.64402	D	0.000003	T	0.11452	0.0279	M	0.81942	2.565	0.36894	D	0.890043	D	0.65815	0.995	D	0.70487	0.969	T	0.00240	-1.1887	10	0.72032	D	0.01	-21.6334	11.3324	0.49484	0.3914:0.0:0.6086:0.0	.	803	Q9UKK3	PARP4_HUMAN	Q	803	ENSP00000371419:H803Q	ENSP00000371419:H803Q	H	-	3	2	PARP4	23931197	0.001000	0.12720	0.347000	0.25668	0.300000	0.27592	-0.300000	0.08243	-0.682000	0.05197	-0.490000	0.04691	CAT		0.333	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		7	25	0	0	0	0	7	25				
RXFP2	122042	broad.mit.edu	37	13	32313845	32313845	+	Splice_Site	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:32313845T>C	ENST00000298386.2	+	1	165		c.e1+2		RXFP2_ENST00000380314.1_Splice_Site	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATGTCAAAGGTAAGGTTGCTA	0.313																																						uc001utt.2		NA																	0					0						c.e1+2		relaxin/insulin-like family peptide receptor 2							156.0	141.0	146.0					13																	32313845		2202	4299	6501	SO:0001630	splice_region_variant	122042					integral to membrane|plasma membrane		g.chr13:32313845T>C	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.94+2T>C	13.37:g.32313845T>C						RXFP2_uc010aba.2_Splice_Site_p.D15_splice	p.D32_splice	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	1	165	+		Lung SC(185;0.0262)						B1ALE9|Q3KU23	Splice_Site	SNP	ENST00000298386.2	37	c.94_splice	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951367	0.53186	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2015	0.54328	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RXFP2	31211845	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.696000	0.47052	2.132000	0.65825	0.533000	0.62120	.		0.313	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	Intron	37	36	0	0	0	0	37	36				
SOHLH2	54937	broad.mit.edu	37	13	36748876	36748876	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:36748876G>C	ENST00000379881.3	-	7	860	c.772C>G	c.(772-774)Cca>Gca	p.P258A	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.P335A|SOHLH2_ENST00000554962.1_Missense_Mutation_p.P335A	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	258					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATAACGGCTGGAGAGATTTTC	0.368																																						uc001uvj.2		NA																	0					0						c.(772-774)CCA>GCA		spermatogenesis and oogenesis specific basic							63.0	70.0	67.0					13																	36748876		2203	4300	6503	SO:0001583	missense	54937				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding	g.chr13:36748876G>C	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.772C>G	13.37:g.36748876G>C	ENSP00000369210:p.Pro258Ala					SOHLH2_uc010tei.1_Missense_Mutation_p.P335A	p.P258A	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	7	861	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	258					B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	c.772C>G	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490064	0.26686	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.31510	1.5;1.49;1.49	5.11	4.26	0.50523	Helix-loop-helix DNA-binding (2);	0.199523	0.35970	N	0.002871	T	0.47875	0.1469	M	0.61703	1.905	0.29959	N	0.819607	D;D	0.76494	0.997;0.999	P;P	0.62885	0.789;0.908	T	0.51379	-0.8713	10	0.62326	D	0.03	-5.0263	11.6034	0.51017	0.0:0.1801:0.8199:0.0	.	335;258	B4DX90;Q9NX45	.;SOLH2_HUMAN	A	258;335;335	ENSP00000369210:P258A;ENSP00000451542:P335A;ENSP00000421868:P335A	ENSP00000421868:P335A	P	-	1	0	CCDC169-SOHLH2;SOHLH2	35646876	0.866000	0.29940	0.925000	0.36789	0.006000	0.05464	0.735000	0.26115	1.142000	0.42291	-0.182000	0.12963	CCA		0.368	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		19	40	0	0	0	0	19	40				
PCDH17	27253	broad.mit.edu	37	13	58206853	58206853	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:58206853G>C	ENST00000377918.3	+	1	199	c.173G>C	c.(172-174)cGc>cCc	p.R58P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	58	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGGAGGGCGCAGCAAGTCG	0.692																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(172-174)CGC>CCC		protocadherin 17 precursor							22.0	24.0	23.0					13																	58206853		2203	4298	6501	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58206853G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.173G>C	13.37:g.58206853G>C	ENSP00000367151:p.Arg58Pro					PCDH17_uc010aec.1_Missense_Mutation_p.R58P	p.R58P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1065	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	58			Extracellular (Potential).|Cadherin 1.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.173G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886238	0.33348	.	.	ENSG00000118946	ENST00000377918	T	0.28069	1.63	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.103999	0.64402	D	0.000003	T	0.25717	0.0626	N	0.17800	0.525	0.38013	D	0.934609	B;B	0.18310	0.021;0.027	B;B	0.32211	0.052;0.142	T	0.10730	-1.0617	9	.	.	.	.	17.8672	0.88799	0.0:0.0:1.0:0.0	.	58;58	O14917-2;O14917	.;PCD17_HUMAN	P	58	ENSP00000367151:R58P	.	R	+	2	0	PCDH17	57104854	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	3.864000	0.56024	2.894000	0.99253	0.655000	0.94253	CGC		0.692	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	12	0	0	0	0	4	12				
SLITRK6	84189	broad.mit.edu	37	13	86369426	86369426	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:86369426C>T	ENST00000400286.2	-	2	1816	c.1218G>A	c.(1216-1218)tcG>tcA	p.S406S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	406					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGTTCATAAACGATCCTTCTT	0.338																																						uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1216-1218)TCG>TCA		slit and trk like 6 precursor							78.0	73.0	74.0					13																	86369426		1847	4094	5941	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86369426C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1218G>A	13.37:g.86369426C>T						SLITRK6_uc010afe.1_Intron	p.S406S	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1677	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		406			Extracellular (Potential).|LRR 7.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.1218G>A	CCDS41903.1																																																																																				0.338	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		9	18	0	0	0	0	9	18				
F10	2159	broad.mit.edu	37	13	113803734	113803734	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:113803734C>A	ENST00000375559.3	+	8	1408	c.1370C>A	c.(1369-1371)gCc>gAc	p.A457D	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	457	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	AAGGTCACCGCCTTCCTCAAG	0.572																																						uc001vsx.2		NA																	0				pancreas(1)	1						c.(1369-1371)GCC>GAC		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						109.0	94.0	99.0					13																	113803734		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803734C>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1370C>A	13.37:g.113803734C>A	ENSP00000364709:p.Ala457Asp					F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	p.A457D	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1427	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	457			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1370C>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	3.983	-0.005987	0.07773	.	.	ENSG00000126218	ENST00000375559	D	0.88586	-2.4	5.38	-1.29	0.09288	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.991531	0.08206	N	0.981500	D	0.84492	0.5484	L	0.47016	1.485	0.09310	N	1	B	0.29646	0.253	B	0.28385	0.089	T	0.69480	-0.5134	10	0.48119	T	0.1	.	11.3316	0.49479	0.5536:0.1432:0.3032:0.0	.	457	P00742	FA10_HUMAN	D	457	ENSP00000364709:A457D	ENSP00000364709:A457D	A	+	2	0	F10	112851735	0.002000	0.14202	0.014000	0.15608	0.001000	0.01503	0.752000	0.26362	-0.704000	0.05042	-0.913000	0.02753	GCC		0.572	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			19	61	1	0	5.35e-07	1.13e-06	19	61				
FOXG1	2290	broad.mit.edu	37	14	29237169	29237169	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:29237169C>A	ENST00000313071.4	+	1	883	c.684C>A	c.(682-684)tcC>tcA	p.S228S	RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Silent_p.S228S|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	228					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCAGAACTCCATCCGCCACA	0.597																																						uc001wqe.2		NA																	0				ovary(2)|lung(2)	4						c.(682-684)TCC>TCA		forkhead box G1							45.0	44.0	44.0					14																	29237169		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237169C>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.684C>A	14.37:g.29237169C>A							p.S228S	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	883	+			228			Fork-head.		A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.684C>A	CCDS9636.1																																																																																				0.597	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			15	9	1	0	2.32e-09	5.15e-09	15	9				
CTAGE5	4253	broad.mit.edu	37	14	39790183	39790183	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:39790183G>T	ENST00000280083.3	+	19	1909	c.1595G>T	c.(1594-1596)aGa>aTa	p.R532I	CTAGE5_ENST00000556148.1_Missense_Mutation_p.R457I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R537I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.R503I|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R503I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.R452I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R520I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R503I|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R532I|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.R1067I			O15320	CTGE5_HUMAN	CTAGE family, member 5	532	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCTGAAACAAGAGCTTTTCTC	0.418																																						uc001wvg.3		NA																	0					0						c.(1594-1596)AGA>ATA		CTAGE family, member 5 isoform 1							106.0	110.0	108.0					14																	39790183		2203	4300	6503	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39790183G>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1595G>T	14.37:g.39790183G>T	ENSP00000280083:p.Arg532Ile					CTAGE5_uc010tqe.1_Missense_Mutation_p.R494I|CTAGE5_uc001wuz.3_Missense_Mutation_p.R520I|CTAGE5_uc001wuy.3_Missense_Mutation_p.R452I|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Missense_Mutation_p.R503I|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Missense_Mutation_p.R457I|CTAGE5_uc001wvi.3_Missense_Mutation_p.R537I|CTAGE5_uc010amz.2_Missense_Mutation_p.R148I|CTAGE5_uc001wvj.3_Missense_Mutation_p.R503I	p.R532I	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	19	1931	+	Hepatocellular(127;0.213)		532			Pro-rich.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.1595G>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886742	0.91814	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000553352	T;T;T;T;T;T;T;T;T	0.71817	2.68;2.6;2.58;2.62;3.04;-0.6;2.93;-0.6;2.62	5.95	5.95	0.96441	.	0.000000	0.37857	N	0.001912	D	0.86289	0.5897	M	0.85859	2.78	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	0.86591	0.1860	9	.	.	.	.	18.5737	0.91147	0.0:0.0:1.0:0.0	.	494;537;532;520	F8W9E1;O15320-5;O15320;G3XAC5	.;.;CTGE5_HUMAN;.	I	1067;520;452;494;503;532;537;532;457;503	ENSP00000452252:R1067I;ENSP00000343897:R520I;ENSP00000450869:R452I;ENSP00000379468:R503I;ENSP00000339286:R532I;ENSP00000379462:R537I;ENSP00000280083:R532I;ENSP00000452562:R457I;ENSP00000450449:R503I	.	R	+	2	0	CTAGE5;RP11-407N17.3	38859934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.824000	0.97209	0.655000	0.94253	AGA		0.418	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		21	76	1	0	1.4e-16	3.34e-16	21	76				
TIMM9	26520	broad.mit.edu	37	14	58875876	58875876	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:58875876G>A	ENST00000395159.2	-	6	671	c.146C>T	c.(145-147)tCa>tTa	p.S49L	TIMM9_ENST00000216463.4_5'UTR|TIMM9_ENST00000555061.1_Missense_Mutation_p.S49L|TIMM9_ENST00000555404.1_Missense_Mutation_p.S49L|TIMM9_ENST00000556007.2_Intron|TIMM9_ENST00000555593.1_Missense_Mutation_p.S49L|RP11-517O13.1_ENST00000556734.1_RNA	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)	49					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			kidney(2)|skin(1)	3						GCAATGTTCTGAACAGGTGGT	0.348																																						uc010aph.2		NA																	0					0						c.(145-147)TCA>TTA		translocase of inner mitochondrial membrane 9							64.0	60.0	62.0					14																	58875876		2203	4300	6503	SO:0001583	missense	26520				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding	g.chr14:58875876G>A	AF150100	CCDS9735.1	14q22.3-q24	2008-07-04	2001-11-28		ENSG00000100575	ENSG00000100575			11819	protein-coding gene	gene with protein product		607384	"""translocase of inner mitochondrial membrane 9 (yeast) homolog"""			10552927, 14726512	Standard	NM_012460		Approved	TIM9A	uc001xds.3	Q9Y5J7	OTTHUMG00000140322	ENST00000395159.2:c.146C>T	14.37:g.58875876G>A	ENSP00000378588:p.Ser49Leu					TIMM9_uc001xds.2_Missense_Mutation_p.S49L|TIMM9_uc010api.2_Missense_Mutation_p.S49L	p.S49L	NM_012460	NP_036592	Q9Y5J7	TIM9_HUMAN			4	361	-			49			Twin CX3C motif.		B2R584	Missense_Mutation	SNP	ENST00000395159.2	37	c.146C>T	CCDS9735.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757679	0.69648	.	.	ENSG00000100575	ENST00000395159;ENST00000555593;ENST00000555061;ENST00000555404	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.55	5.55	0.83447	.	0.062489	0.64402	D	0.000002	T	0.58061	0.2096	.	.	.	0.80722	D	1	B	0.34241	0.444	B	0.42959	0.403	T	0.53995	-0.8359	9	0.40728	T	0.16	-19.0881	19.2868	0.94082	0.0:0.0:1.0:0.0	.	49	Q9Y5J7	TIM9_HUMAN	L	49	ENSP00000378588:S49L;ENSP00000451006:S49L;ENSP00000450638:S49L;ENSP00000451198:S49L	ENSP00000216463:S49L	S	-	2	0	TIMM9	57945629	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.885000	0.99019	0.655000	0.94253	TCA		0.348	TIMM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276936.2			23	15	0	0	0	0	23	15				
CKB	1152	broad.mit.edu	37	14	103986585	103986585	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:103986585G>C	ENST00000348956.2	-	7	1198	c.841C>G	c.(841-843)Ctc>Gtc	p.L281V		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	281	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGGCAGGTGAGGATGTAGCCC	0.557																																					Esophageal Squamous(186;2492 2823 49929 50127)	uc001ynf.1		NA																	0					0						c.(841-843)CTC>GTC		brain creatine kinase	Creatine(DB00148)						63.0	64.0	64.0					14																	103986585		2203	4300	6503	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103986585G>C		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.841C>G	14.37:g.103986585G>C	ENSP00000299198:p.Leu281Val					CKB_uc001yne.1_Missense_Mutation_p.L103V|CKB_uc010awr.1_Missense_Mutation_p.L212V	p.L281V	NM_001823	NP_001814	P12277	KCRB_HUMAN	Epithelial(46;0.14)		7	921	-		Melanoma(154;0.155)	281			Phosphagen kinase C-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.841C>G	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990422	0.74589	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553610	T;T	0.11821	2.74;2.74	4.52	3.61	0.41365	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.91972	3.26	0.80722	D	1	D	0.61080	0.989	P	0.62560	0.904	T	0.47484	-0.9114	10	0.72032	D	0.01	-35.3843	10.4446	0.44486	0.1582:0.0:0.8418:0.0	.	281	P12277	KCRB_HUMAN	V	281;246;79	ENSP00000299198:L281V;ENSP00000451426:L79V	ENSP00000299198:L281V	L	-	1	0	CKB	103056338	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.604000	0.74150	2.051000	0.60960	0.462000	0.41574	CTC		0.557	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			10	30	0	0	0	0	10	30				
AHNAK2	113146	broad.mit.edu	37	14	105408248	105408248	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:105408248G>C	ENST00000333244.5	-	7	13659	c.13540C>G	c.(13540-13542)Cag>Gag	p.Q4514E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4514						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAAGGGGCCTGAATGCGGAGG	0.627																																						uc010axc.1		NA																	0				ovary(1)	1						c.(13540-13542)CAG>GAG		AHNAK nucleoprotein 2							115.0	123.0	121.0					14																	105408248		1986	4164	6150	SO:0001583	missense	113146					nucleus		g.chr14:105408248G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13540C>G	14.37:g.105408248G>C	ENSP00000353114:p.Gln4514Glu					AHNAK2_uc001ypx.2_Missense_Mutation_p.Q4414E	p.Q4514E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13660	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4514					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13540C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	1.991	-0.431724	0.04669	.	.	ENSG00000185567	ENST00000333244	T	0.01572	4.76	3.6	0.257	0.15574	.	1.971820	0.03750	U	0.256438	T	0.02267	0.0070	N	0.12182	0.205	0.09310	N	1	P	0.46952	0.887	P	0.57468	0.821	T	0.46498	-0.9187	10	0.12766	T	0.61	-8.0218	1.5933	0.02659	0.1331:0.3439:0.3062:0.2168	.	4514	Q8IVF2	AHNK2_HUMAN	E	4514	ENSP00000353114:Q4514E	ENSP00000353114:Q4514E	Q	-	1	0	AHNAK2	104479293	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.537000	0.06128	0.488000	0.27723	0.306000	0.20318	CAG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		25	63	0	0	0	0	25	63				
MKRN3	7681	broad.mit.edu	37	15	23811612	23811612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr15:23811612C>A	ENST00000314520.3	+	1	1159	c.683C>A	c.(682-684)tCa>tAa	p.S228*	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	228					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTACAGAGCTCAGAGACTGAG	0.582																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(682-684)TCA>TAA		makorin ring finger protein 3							61.0	65.0	64.0					15																	23811612		2203	4300	6503	SO:0001587	stop_gained	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811612C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.683C>A	15.37:g.23811612C>A	ENSP00000313881:p.Ser228*					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Nonsense_Mutation_p.S228*	p.S228*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1159	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	228						Nonsense_Mutation	SNP	ENST00000314520.3	37	c.683C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.639649	0.96693	.	.	ENSG00000179455	ENST00000314520	.	.	.	4.07	-2.18	0.07037	.	0.376195	0.26481	N	0.024125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	5.7285	0.18026	0.0:0.4277:0.1452:0.427	.	.	.	.	X	228	.	ENSP00000313881:S228X	S	+	2	0	MKRN3	21362705	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.272000	0.08560	-0.434000	0.07275	-0.910000	0.02820	TCA		0.582	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		14	33	1	0	1.52e-12	3.55e-12	14	33				
ITGAL	3683	broad.mit.edu	37	16	30518144	30518144	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:30518144G>A	ENST00000356798.6	+	21	2655	c.2475G>A	c.(2473-2475)ccG>ccA	p.P825P	MIR4518_ENST00000580665.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.P741P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	825					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACTTCCCCCCGGGACTCTCCT	0.602																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(2473-2475)CCG>CCA		integrin alpha L isoform a precursor	Efalizumab(DB00095)						121.0	119.0	120.0					16																	30518144		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30518144G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2475G>A	16.37:g.30518144G>A						ITGAL_uc002dyj.3_Silent_p.P741P|ITGAL_uc010vev.1_Intron	p.P825P	NM_002209	NP_002200	P20701	ITAL_HUMAN			21	2651	+			825			Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.2475G>A	CCDS32433.1																																																																																				0.602	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			32	147	0	0	0	0	32	147				
MYLK3	91807	broad.mit.edu	37	16	46771727	46771727	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:46771727C>T	ENST00000394809.4	-	3	1012	c.897G>A	c.(895-897)gaG>gaA	p.E299E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	299					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCGTGCCTTCCTCTAAGGGCT	0.667																																						uc002eei.3		NA																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(895-897)GAG>GAA		myosin light chain kinase 3							70.0	69.0	69.0					16																	46771727		2203	4300	6503	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46771727C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.897G>A	16.37:g.46771727C>T						MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR	p.E299E	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			3	1013	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	299					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.897G>A	CCDS10723.2																																																																																				0.667	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		21	116	0	0	0	0	21	116				
GPT2	84706	broad.mit.edu	37	16	46956246	46956246	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:46956246C>A	ENST00000340124.4	+	9	1242	c.1130C>A	c.(1129-1131)cCc>cAc	p.P377H	GPT2_ENST00000440783.2_Missense_Mutation_p.P277H	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	377					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CGCCTGTGCCCCCCAGTGTCT	0.612																																						uc002eel.2		NA																	0				ovary(1)|skin(1)	2						c.(1129-1131)CCC>CAC		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						88.0	75.0	80.0					16																	46956246		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46956246C>A		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1130C>A	16.37:g.46956246C>A	ENSP00000345282:p.Pro377His					GPT2_uc002eem.2_Missense_Mutation_p.P277H|GPT2_uc002een.2_5'Flank	p.P377H	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			9	1224	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	377					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.1130C>A	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287582	0.80803	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.25414	2.01;1.8	5.07	5.07	0.68467	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78723	-0.2093	10	0.87932	D	0	.	18.7928	0.91982	0.0:1.0:0.0:0.0	.	377	Q8TD30	ALAT2_HUMAN	H	377;277	ENSP00000345282:P377H;ENSP00000413804:P277H	ENSP00000345282:P377H	P	+	2	0	GPT2	45513747	1.000000	0.71417	0.990000	0.47175	0.498000	0.33706	7.687000	0.84139	2.525000	0.85131	0.462000	0.41574	CCC		0.612	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			18	50	1	0	2.39e-15	5.66e-15	18	50				
NLRC5	84166	broad.mit.edu	37	16	57060492	57060492	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:57060492G>T	ENST00000262510.6	+	6	1862	c.1637G>T	c.(1636-1638)cGc>cTc	p.R546L	NLRC5_ENST00000308149.7_Missense_Mutation_p.R546L|NLRC5_ENST00000436936.1_Missense_Mutation_p.R546L|NLRC5_ENST00000539144.1_Missense_Mutation_p.R546L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	546					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCATTCCCGCTGGGTACAG	0.612																																						uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(1636-1638)CGC>CTC		nucleotide-binding oligomerization domains 27							116.0	112.0	113.0					16																	57060492		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57060492G>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1637G>T	16.37:g.57060492G>T	ENSP00000262510:p.Arg546Leu					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R351L|NLRC5_uc002ekl.2_Missense_Mutation_p.R351L|NLRC5_uc002ekm.2_Missense_Mutation_p.R351L|NLRC5_uc010ccr.1_RNA	p.R546L	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			6	1862	+		all_neural(199;0.225)	546					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1637G>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494486	0.64186	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.66	-3.99	0.04069	.	0.635159	0.12625	N	0.452708	T	0.81602	0.4857	L	0.41710	1.295	0.26885	N	0.967467	D;D;B;B	0.63880	0.993;0.993;0.334;0.017	D;P;B;B	0.63283	0.913;0.905;0.165;0.017	T	0.73430	-0.3985	10	0.25751	T	0.34	.	9.195	0.37222	0.7329:0.1228:0.1442:0.0	.	546;546;546;546	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	L	546;546;546;20;546;53	ENSP00000262510:R546L;ENSP00000308886:R546L;ENSP00000389739:R546L;ENSP00000441727:R546L;ENSP00000441597:R53L	ENSP00000262510:R546L	R	+	2	0	NLRC5	55617993	0.110000	0.22057	0.975000	0.42487	0.725000	0.41563	-0.132000	0.10467	-0.581000	0.05937	0.561000	0.74099	CGC		0.612	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		35	64	1	0	3.66e-26	9.03e-26	35	64				
LRRC36	55282	broad.mit.edu	37	16	67404886	67404886	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:67404886T>C	ENST00000329956.6	+	9	1254	c.1235T>C	c.(1234-1236)gTa>gCa	p.V412A	LRRC36_ENST00000563189.1_Missense_Mutation_p.V291A|LRRC36_ENST00000435835.3_Missense_Mutation_p.V291A|LRRC36_ENST00000290940.7_Missense_Mutation_p.V144A|LRRC36_ENST00000541146.1_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	412										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GACCCTGCTGTACTTGTCAAT	0.473																																						uc002esv.2		NA																	0					0						c.(1234-1236)GTA>GCA		leucine rich repeat containing 36 isoform 1							191.0	164.0	173.0					16																	67404886		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67404886T>C	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1235T>C	16.37:g.67404886T>C	ENSP00000329943:p.Val412Ala					LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Missense_Mutation_p.V144A|LRRC36_uc002esx.2_Missense_Mutation_p.V291A|LRRC36_uc010vjk.1_Missense_Mutation_p.V291A|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_Intron	p.V412A	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	9	1254	+		Ovarian(137;0.192)	412					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1235T>C	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	T	9.506	1.104396	0.20632	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.49139	3.17;0.79;1.42	5.7	4.59	0.56863	.	0.441687	0.22811	N	0.055353	T	0.27663	0.0680	N	0.08118	0	0.80722	D	1	B;B;B;B	0.15141	0.012;0.012;0.002;0.001	B;B;B;B	0.16289	0.015;0.015;0.006;0.002	T	0.06661	-1.0814	10	0.72032	D	0.01	0.1533	9.0165	0.36173	0.1642:0.0:0.0:0.8358	.	291;144;291;412	B7Z7B3;Q9NV11;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	A	412;144;291	ENSP00000329943:V412A;ENSP00000290940:V144A;ENSP00000411122:V291A	ENSP00000290940:V144A	V	+	2	0	LRRC36	65962387	0.978000	0.34361	0.666000	0.29783	0.032000	0.12392	1.878000	0.39608	0.974000	0.38366	0.459000	0.35465	GTA		0.473	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		36	99	0	0	0	0	36	99				
THAP11	57215	broad.mit.edu	37	16	67876755	67876755	+	Missense_Mutation	SNP	G	G	T	rs142722815		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:67876755G>T	ENST00000303596.1	+	1	543	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	100	Poly-Ala.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		ggccgcggccgcccgccgcAG	0.687																																						uc002euo.2		NA																	0					0						c.(298-300)GCC>TCC		THAP domain containing 11							8.0	11.0	10.0					16																	67876755		2094	4142	6236	SO:0001583	missense	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876755G>T	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.298G>T	16.37:g.67876755G>T	ENSP00000304689:p.Ala100Ser					CENPT_uc002eun.3_Intron	p.A100S	NM_020457	NP_065190	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	543	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	100			Poly-Ala.		A4UCT5|A8K002|O94795	Missense_Mutation	SNP	ENST00000303596.1	37	c.298G>T	CCDS10847.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006661	0.54361	.	.	ENSG00000168286	ENST00000303596	T	0.41758	0.99	5.4	5.4	0.78164	.	0.067605	0.64402	D	0.000019	T	0.30448	0.0765	N	0.19112	0.55	0.41755	D	0.98968	B	0.27732	0.187	B	0.24974	0.057	T	0.07271	-1.0781	10	0.33940	T	0.23	-13.1079	16.4491	0.83973	0.0:0.0:1.0:0.0	.	100	Q96EK4	THA11_HUMAN	S	100	ENSP00000304689:A100S	ENSP00000304689:A100S	A	+	1	0	THAP11	66434256	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	5.474000	0.66781	2.687000	0.91594	0.563000	0.77884	GCC		0.687	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		6	26	1	0	1.26e-09	2.82e-09	6	26				
CDH1	999	broad.mit.edu	37	16	68853297	68853297	+	Silent	SNP	G	G	A	rs35741240	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:68853297G>A	ENST00000261769.5	+	11	1871	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.T499T	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	560	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.T560T(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGAACAGCACGTACACAGCCC	0.542			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NA	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		2	Unknown(1)|Substitution - coding silent(1)		large_intestine(1)|breast(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(1678-1680)ACG>ACA		cadherin 1, type 1 preproprotein							106.0	85.0	92.0					16																	68853297		2198	4300	6498	SO:0001819	synonymous_variant	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68853297G>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1680G>A	16.37:g.68853297G>A						CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Silent_p.T499T	p.T560T	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	11	1804	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	560			Extracellular (Potential).|Cadherin 4.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.1680G>A	CCDS10869.1																																																																																				0.542	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		12	33	0	0	0	0	12	33				
ATP2C2	9914	broad.mit.edu	37	16	84495694	84495694	+	Missense_Mutation	SNP	C	C	A	rs201787876		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:84495694C>A	ENST00000262429.4	+	26	2770	c.2681C>A	c.(2680-2682)cCg>cAg	p.P894Q	ATP2C2_ENST00000416219.2_Missense_Mutation_p.P923Q|ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	894					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TACATCCCCCCGCTGCAGAGG	0.617																																						uc002fhx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2680-2682)CCG>CAG		ATPase, Ca++ transporting, type 2C, member 2							80.0	88.0	85.0					16																	84495694		1950	4142	6092	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84495694C>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2681C>A	16.37:g.84495694C>A	ENSP00000262429:p.Pro894Gln					ATP2C2_uc010chj.2_Missense_Mutation_p.P923Q|ATP2C2_uc002fhy.2_Missense_Mutation_p.P911Q|ATP2C2_uc002fhz.2_Missense_Mutation_p.P743Q|ATP2C2_uc002fia.2_Missense_Mutation_p.P205Q	p.P894Q	NM_014861	NP_055676	O75185	AT2C2_HUMAN			26	2770	+			894			Helical; Name=9; (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.2681C>A	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559439	0.45590	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.89050	-2.46;-2.46	5.14	4.19	0.49359	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000002	D	0.94771	0.8312	M	0.90252	3.1	0.58432	D	0.999999	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;0.998;0.999	D	0.94177	0.7428	10	0.36615	T	0.2	.	13.0028	0.58685	0.0:0.9216:0.0:0.0784	.	923;743;743;911;894	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	Q	923;894;743	ENSP00000397925:P923Q;ENSP00000262429:P894Q	ENSP00000262429:P894Q	P	+	2	0	ATP2C2	83053195	0.991000	0.36638	0.071000	0.20095	0.031000	0.12232	3.242000	0.51384	1.184000	0.42957	-0.221000	0.12465	CCG		0.617	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		19	106	1	0	5.35e-07	1.13e-06	19	106				
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	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		131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(18)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(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	GRCh37	CM011015|CM052927	TP53	M	rs17849781	c.(832-834)CCT>TCT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	62.0	65.0					17																	7577106		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577106G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.832C>T	17.37:g.7577106G>A	ENSP00000269305:p.Pro278Ser	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S	p.P278S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1026	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.832C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	28	0	0	0	0	8	28				
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	A	rs587778720		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7578211C>A	ENST00000269305.4	-	6	827	c.638G>T	c.(637-639)cGa>cTa	p.R213L	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R213L|TP53_ENST00000455263.2_Missense_Mutation_p.R213L|TP53_ENST00000413465.2_Missense_Mutation_p.R213L|TP53_ENST00000420246.2_Missense_Mutation_p.R213L|TP53_ENST00000359597.4_Missense_Mutation_p.R213L	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	CACACTATGTCGAAAAGTGTT	0.532		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		110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.R213*(182)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004906|CM022474	TP53	M		c.(637-639)CGA>CTA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	122.0					17																	7578211		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578211C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.638G>T	17.37:g.7578211C>A	ENSP00000269305:p.Arg213Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R213L|TP53_uc002gih.2_Missense_Mutation_p.R213L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81L|TP53_uc010cng.1_Missense_Mutation_p.R81L|TP53_uc002gii.1_Missense_Mutation_p.R81L|TP53_uc010cnh.1_Missense_Mutation_p.R213L|TP53_uc010cni.1_Missense_Mutation_p.R213L|TP53_uc002gij.2_Missense_Mutation_p.R213L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120L|TP53_uc002gio.2_Missense_Mutation_p.R81L|TP53_uc010vug.1_Missense_Mutation_p.R174L	p.R213L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	832	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.638G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.890676	0.97074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	D	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.53688	D	0.999978	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.996;0.999;0.989;0.986;0.999	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213L;ENSP00000352610:R213L;ENSP00000269305:R213L;ENSP00000398846:R213L;ENSP00000391127:R213L;ENSP00000391478:R213L;ENSP00000425104:R81L;ENSP00000423862:R120L	ENSP00000269305:R213L	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	18	1	0	9.31e-06	1.87e-05	12	18				
CNTROB	116840	broad.mit.edu	37	17	7851510	7851510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7851510C>T	ENST00000563694.1	+	16	3170	c.2245C>T	c.(2245-2247)Caa>Taa	p.Q749*	CNTROB_ENST00000380262.3_Nonsense_Mutation_p.Q749*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q749*|CNTROB_ENST00000380255.3_3'UTR	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	749	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAAGCCCCTCAAGTGCCACG	0.537																																						uc002gjq.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2245-2247)CAA>TAA		centrobin, centrosomal BRCA2 interacting protein							123.0	123.0	123.0					17																	7851510		2203	4300	6503	SO:0001587	stop_gained	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7851510C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2245C>T	17.37:g.7851510C>T	ENSP00000456335:p.Gln749*					CNTROB_uc002gjp.2_Nonsense_Mutation_p.Q749*|CNTROB_uc002gjr.2_Nonsense_Mutation_p.Q651*	p.Q749*	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			17	3164	+		Prostate(122;0.173)	749			Pro-rich.|Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Nonsense_Mutation	SNP	ENST00000563694.1	37	c.2245C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	47	13.633733	0.99754	.	.	ENSG00000170037	ENST00000380262	.	.	.	6.17	5.2	0.72013	.	0.380247	0.22835	N	0.055042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-5.7534	11.9912	0.53176	0.0:0.9189:0.0:0.0811	.	.	.	.	X	749	.	ENSP00000369614:Q749X	Q	+	1	0	CNTROB	7792235	0.124000	0.22315	0.999000	0.59377	0.991000	0.79684	2.162000	0.42367	2.941000	0.99782	0.655000	0.94253	CAA		0.537	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		17	108	0	0	0	0	17	108				
MYH8	4626	broad.mit.edu	37	17	10318851	10318851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:10318851G>A	ENST00000403437.2	-	7	680	c.586C>T	c.(586-588)Caa>Taa	p.Q196*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	196	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAAAGTATTGGATGACACGC	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(586-588)CAA>TAA		myosin, heavy chain 8, skeletal muscle,							146.0	136.0	140.0					17																	10318851		2203	4300	6503	SO:0001587	stop_gained	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318851G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.586C>T	17.37:g.10318851G>A	ENSP00000384330:p.Gln196*					uc002gml.1_Intron	p.Q196*	NM_002472	NP_002463	P13535	MYH8_HUMAN			7	681	-			196			Myosin head-like.		Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	c.586C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592069	0.96590	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	4.44	4.44	0.53790	.	0.000000	0.39759	U	0.001273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2389	0.87007	0.0:0.0:1.0:0.0	.	.	.	.	X	196	.	ENSP00000252173:Q196X	Q	-	1	0	MYH8	10259576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.488000	0.97947	2.308000	0.77769	0.591000	0.81541	CAA		0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		39	55	0	0	0	0	39	55				
PIGL	9487	broad.mit.edu	37	17	16203244	16203244	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:16203244C>T	ENST00000225609.5	+	3	395	c.378C>T	c.(376-378)caC>caT	p.H126H	PIGL_ENST00000581006.1_Silent_p.H126H|PIGL_ENST00000395844.4_Silent_p.H126H|PIGL_ENST00000498772.2_Silent_p.H126H	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	126					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		ACACAGAGCACGTGGCCAGAG	0.507																																						uc002gpv.2		NA																	0					0						c.(376-378)CAC>CAT		phosphatidylinositol glycan anchor biosynthesis,							224.0	192.0	202.0					17																	16203244		2203	4300	6503	SO:0001819	synonymous_variant	9487				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	g.chr17:16203244C>T	AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.378C>T	17.37:g.16203244C>T						PIGL_uc010vwd.1_Silent_p.H126H	p.H126H	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)	3	410	+			126			Cytoplasmic (Potential).		A8KA67|B4DYN4	Silent	SNP	ENST00000225609.5	37	c.378C>T	CCDS11176.1																																																																																				0.507	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131881.1			20	106	0	0	0	0	20	106				
FLII	2314	broad.mit.edu	37	17	18155815	18155815	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:18155815C>T	ENST00000327031.4	-	10	1294	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	FLII_ENST00000584444.1_5'Flank|FLII_ENST00000545457.2_Missense_Mutation_p.E303K|FLII_ENST00000379450.4_Missense_Mutation_p.E272K|FLII_ENST00000578558.1_Missense_Mutation_p.E357K|FLII_ENST00000579294.1_Missense_Mutation_p.E346K	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	357	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TGGATGGCTTCTGGGAGGGTC	0.587																																						uc002gsr.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1069-1071)GAA>AAA		flightless I homolog							88.0	80.0	83.0					17																	18155815		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18155815C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1069G>A	17.37:g.18155815C>T	ENSP00000324573:p.Glu357Lys					FLII_uc002gsq.1_Missense_Mutation_p.E229K|FLII_uc010cpy.1_Missense_Mutation_p.E346K|FLII_uc010vxn.1_Missense_Mutation_p.E326K|FLII_uc010vxo.1_Missense_Mutation_p.E303K|FLII_uc002gss.1_Missense_Mutation_p.E357K	p.E357K	NM_002018	NP_002009	Q13045	FLII_HUMAN			10	1120	-	all_neural(463;0.228)		357			LRR 15.|Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.1069G>A	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957793	0.92726	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.25414	1.8;1.8	5.81	5.81	0.92471	.	0.097518	0.64402	D	0.000002	T	0.51449	0.1675	M	0.63428	1.95	0.80722	D	1	P;P;D;P;D	0.71674	0.953;0.953;0.998;0.564;0.998	P;P;D;B;D	0.75484	0.551;0.551;0.94;0.318;0.986	T	0.43294	-0.9400	10	0.54805	T	0.06	-33.6056	20.0628	0.97684	0.0:1.0:0.0:0.0	.	272;272;357;357;326	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	K	357;357;272	ENSP00000324573:E357K;ENSP00000368763:E272K	ENSP00000324573:E357K	E	-	1	0	FLII	18096540	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	7.480000	0.81109	2.745000	0.94114	0.655000	0.94253	GAA		0.587	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		10	72	0	0	0	0	10	72				
ZNF286B	729288	broad.mit.edu	37	17	18584121	18584121	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:18584121G>A	ENST00000545289.1	-	3	309	c.59C>T	c.(58-60)cCc>cTc	p.P20L	ZNF286B_ENST00000285274.5_Missense_Mutation_p.P20L	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	20					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)|lung(1)	2						TTGGAAATGGGGAGAATCCTG	0.473																																						uc010vyd.1		NA																	0					0						c.(58-60)CCC>CTC		zinc finger protein 286B							89.0	96.0	94.0					17																	18584121		692	1591	2283	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18584121G>A		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.59C>T	17.37:g.18584121G>A	ENSP00000461413:p.Pro20Leu						p.P20L	NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN			3	310	-			20						Missense_Mutation	SNP	ENST00000545289.1	37	c.59C>T	CCDS58523.1																																																																																				0.473	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		19	148	0	0	0	0	19	148				
KCNJ12	3768	broad.mit.edu	37	17	21319578	21319578	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:21319578G>C	ENST00000583088.1	+	3	1819	c.924G>C	c.(922-924)atG>atC	p.M308I	KCNJ12_ENST00000331718.5_Missense_Mutation_p.M308I	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	308					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCACAGCCATGACCACCCAGG	0.607										Prostate(3;0.18)																												uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(922-924)ATG>ATC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						99.0	98.0	98.0					17																	21319578		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319578G>C	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.924G>C	17.37:g.21319578G>C	ENSP00000463778:p.Met308Ile	Prostate(3;0.18)					p.M308I	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1629	+			308			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.924G>C	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131996	0.77662	.	.	ENSG00000184185	ENST00000331718	D	0.93659	-3.26	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96577	0.8883	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.96084	0.9056	10	0.46703	T	0.11	.	19.2719	0.94013	0.0:0.0:1.0:0.0	.	308	Q14500	IRK12_HUMAN	I	308	ENSP00000328150:M308I	ENSP00000328150:M308I	M	+	3	0	KCNJ12	21260171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.698000	0.98700	2.561000	0.86390	0.561000	0.74099	ATG		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	101	0	0	0	0	5	101				
KIAA0100	9703	broad.mit.edu	37	17	26942796	26942796	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:26942796G>A	ENST00000528896.2	-	38	6485	c.6411C>T	c.(6409-6411)gaC>gaT	p.D2137D	SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000301037.5_5'Flank|KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000469832.3_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000389003.3_Silent_p.D1994D|KIAA0100_ENST00000544884.1_Silent_p.D1994D|RP11-192H23.4_ENST00000577790.1_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2137						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)					GGTCACCCCAGTCCACACTGT	0.537																																						uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(6409-6411)GAC>GAT		hypothetical protein LOC9703 precursor							66.0	61.0	63.0					17																	26942796		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26942796G>A	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.6411C>T	17.37:g.26942796G>A						SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Silent_p.D466D	p.D2137D	NM_014680	NP_055495	Q14667	K0100_HUMAN			38	6510	-	Lung NSC(42;0.00431)		2137					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.6411C>T	CCDS32595.1																																																																																				0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		19	37	0	0	0	0	19	37				
RHBDL3	162494	broad.mit.edu	37	17	30615953	30615953	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:30615953G>A	ENST00000269051.4	+	4	451	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	RHBDL3_ENST00000538145.1_Missense_Mutation_p.R138Q|RHBDL3_ENST00000536287.1_Missense_Mutation_p.R48Q	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	146						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				ACCCTGCCCCGGGAAATTGAC	0.617																																						uc002hhe.1		NA																	0				ovary(1)	1						c.(436-438)CGG>CAG		rhomboid protease 3							66.0	63.0	64.0					17																	30615953		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30615953G>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.437G>A	17.37:g.30615953G>A	ENSP00000269051:p.Arg146Gln					RHBDL3_uc010csw.1_Missense_Mutation_p.R138Q|RHBDL3_uc010csx.1_Missense_Mutation_p.R146Q|RHBDL3_uc010csy.1_Missense_Mutation_p.R48Q|RHBDL3_uc002hhf.1_Missense_Mutation_p.R48Q	p.R146Q	NM_138328	NP_612201	P58872	RHBL3_HUMAN			4	451	+		Breast(31;0.116)|Ovarian(249;0.182)	146					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.437G>A	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615240	0.87359	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.64618	-0.11;0.54;0.94;1.53	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.73768	0.3629	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.80764	0.994;0.862;0.862	T	0.64626	-0.6363	10	0.15499	T	0.54	-45.7025	20.4238	0.99064	0.0:0.0:1.0:0.0	.	146;138;146	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	Q	146;146;138;48	ENSP00000394849:R146Q;ENSP00000269051:R146Q;ENSP00000442092:R138Q;ENSP00000466508:R48Q	ENSP00000269051:R146Q	R	+	2	0	RHBDL3	27640066	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.431000	0.97494	2.828000	0.97474	0.655000	0.94253	CGG		0.617	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		13	68	0	0	0	0	13	68				
CDC6	990	broad.mit.edu	37	17	38447873	38447873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:38447873G>A	ENST00000209728.4	+	4	1084	c.613G>A	c.(613-615)Gga>Aga	p.G205R		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	205					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGGTGCTCCTGGAACTGGAAA	0.458																																						uc002huj.1		NA																	0				ovary(2)|breast(1)	3						c.(613-615)GGA>AGA		cell division cycle 6 protein							109.0	117.0	115.0					17																	38447873		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38447873G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.613G>A	17.37:g.38447873G>A	ENSP00000209728:p.Gly205Arg						p.G205R	NM_001254	NP_001245	Q99741	CDC6_HUMAN			4	823	+			205			ATP (Potential).		Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.613G>A	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387097	0.95988	.	.	ENSG00000094804	ENST00000209728	D	0.93906	-3.31	6.16	6.16	0.99307	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98118	0.9379	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98583	1.0651	10	0.87932	D	0	-13.7068	19.6313	0.95704	0.0:0.0:1.0:0.0	.	205	Q99741	CDC6_HUMAN	R	205	ENSP00000209728:G205R	ENSP00000209728:G205R	G	+	1	0	CDC6	35701399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.093000	0.89531	2.937000	0.99478	0.650000	0.86243	GGA		0.458	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			23	122	0	0	0	0	23	122				
HOXB6	3216	broad.mit.edu	37	17	46673848	46673848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:46673848C>T	ENST00000484302.2	-	3	1224	c.602G>A	c.(601-603)tGg>tAg	p.W201*	HOXB-AS3_ENST00000467155.2_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB5_ENST00000239151.5_5'Flank|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB6_ENST00000225648.3_Nonsense_Mutation_p.W201*|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA			P17509	HXB6_HUMAN	homeobox B6	201					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CTCCTTTTTCCACTTCATGCG	0.597																																						uc002ins.1		NA																	0					0						c.(601-603)TGG>TAG		homeobox B6							207.0	177.0	187.0					17																	46673848		2203	4300	6503	SO:0001587	stop_gained	3216				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46673848C>T		CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.602G>A	17.37:g.46673848C>T	ENSP00000420009:p.Trp201*					HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Nonsense_Mutation_p.W201*|HOXB6_uc002int.1_3'UTR	p.W201*	NM_018952	NP_061825	P17509	HXB6_HUMAN			4	927	-			201			Homeobox.		A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Nonsense_Mutation	SNP	ENST00000484302.2	37	c.602G>A	CCDS11531.1	.	.	.	.	.	.	.	.	.	.	C	38	7.083849	0.98051	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3398	0.87292	0.0:1.0:0.0:0.0	.	.	.	.	X	201	.	ENSP00000225648:W201X	W	-	2	0	HOXB6	44028847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.417000	0.82017	0.563000	0.77884	TGG		0.597	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2			45	236	0	0	0	0	45	236				
MPO	4353	broad.mit.edu	37	17	56348175	56348175	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:56348175G>C	ENST00000225275.3	-	12	2256	c.2080C>G	c.(2080-2082)Ctg>Gtg	p.L694V	MPO_ENST00000340482.3_Missense_Mutation_p.L726V	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	694					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	ATCTGGGCCAGGGCCTGTCGC	0.557																																						uc002ivu.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2080-2082)CTG>GTG		myeloperoxidase	Cefdinir(DB00535)						222.0	172.0	189.0					17																	56348175		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56348175G>C		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2080C>G	17.37:g.56348175G>C	ENSP00000225275:p.Leu694Val						p.L694V	NM_000250	NP_000241	P05164	PERM_HUMAN			12	2257	-			694					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.2080C>G	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678596	0.47886	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.64438	-0.1;-0.1	5.76	2.1	0.27182	.	0.071752	0.64402	D	0.000019	T	0.70272	0.3205	M	0.73372	2.23	0.51012	D	0.999908	D	0.55800	0.973	P	0.61940	0.896	T	0.69416	-0.5151	10	0.87932	D	0	-18.0587	5.6868	0.17807	0.271:0.0:0.5893:0.1397	.	694	P05164	PERM_HUMAN	V	726;694	ENSP00000344419:L726V;ENSP00000225275:L694V	ENSP00000225275:L694V	L	-	1	2	MPO	53703174	0.996000	0.38824	0.997000	0.53966	0.695000	0.40330	2.240000	0.43088	0.689000	0.31550	0.655000	0.94253	CTG		0.557	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			4	80	0	0	0	0	4	80				
TEX14	56155	broad.mit.edu	37	17	56676479	56676479	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:56676479C>T	ENST00000240361.8	-	14	2330	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	TEX14_ENST00000349033.5_Missense_Mutation_p.E743K|TEX14_ENST00000389934.3_Missense_Mutation_p.E743K			Q8IWB6	TEX14_HUMAN	testis expressed 14	749					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATCATTCTCGTGCATTATT	0.428																																						uc010dcz.1		NA																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(2245-2247)GAG>AAG		testis expressed sequence 14 isoform a							276.0	256.0	262.0					17																	56676479		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56676479C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2245G>A	17.37:g.56676479C>T	ENSP00000240361:p.Glu749Lys					TEX14_uc002iwr.1_Missense_Mutation_p.E743K|TEX14_uc002iws.1_Missense_Mutation_p.E743K|TEX14_uc010dda.1_Missense_Mutation_p.E523K	p.E749K	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			14	2363	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		749			Potential.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2245G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311835	0.60414	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.79352	-1.26;-1.26;-1.2	5.74	4.77	0.60923	.	0.088280	0.49916	D	0.000122	T	0.54902	0.1887	N	0.08118	0	0.24768	N	0.992881	P;P;P	0.40534	0.598;0.72;0.72	B;B;B	0.31495	0.062;0.131;0.131	T	0.48736	-0.9009	10	0.26408	T	0.33	-7.8941	13.9471	0.64091	0.0:0.1547:0.8453:0.0	.	749;743;743	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	K	749;743;743	ENSP00000240361:E749K;ENSP00000374584:E743K;ENSP00000268910:E743K	ENSP00000240361:E749K	E	-	1	0	TEX14	54031478	0.990000	0.36364	0.728000	0.30774	0.006000	0.05464	1.832000	0.39151	1.436000	0.47453	-0.147000	0.13772	GAG		0.428	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			47	152	0	0	0	0	47	152				
TBX2	6909	broad.mit.edu	37	17	59479058	59479058	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:59479058C>T	ENST00000240328.3	+	2	690	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	137					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						GATGTTCCCCCCCTTCAAGGT	0.562																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1		NA																	0					0						c.(409-411)CCC>TCC		T-box 2							43.0	41.0	42.0					17																	59479058		2203	4300	6503	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59479058C>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.409C>T	17.37:g.59479058C>T	ENSP00000240328:p.Pro137Ser					TBX2_uc002ize.2_Missense_Mutation_p.P127S|TBX2_uc002izg.2_Intron	p.P137S	NM_005994	NP_005985	Q13207	TBX2_HUMAN			2	690	+			137			T-box.		Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.409C>T	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188019	0.78789	.	.	ENSG00000121068	ENST00000240328;ENST00000424871	D	0.86865	-2.18	4.51	3.53	0.40419	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	N	0.01686	-0.76	0.80722	D	1	P;B	0.44241	0.829;0.067	P;B	0.48627	0.584;0.055	T	0.71027	-0.4711	10	0.15952	T	0.53	.	11.8446	0.52376	0.0:0.9142:0.0:0.0858	.	137;74	Q13207;Q59FT1	TBX2_HUMAN;.	S	137;112	ENSP00000240328:P137S	ENSP00000240328:P137S	P	+	1	0	TBX2	56833840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.644000	0.61397	1.105000	0.41606	0.561000	0.74099	CCC		0.562	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		5	42	0	0	0	0	5	42				
FADS6	283985	broad.mit.edu	37	17	72877306	72877306	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:72877306C>A	ENST00000310226.6	-	4	632	c.618G>T	c.(616-618)tgG>tgT	p.W206C		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	212					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TCAGGAGCAGCCAGTAGTGAG	0.607																																						uc002jmd.1		NA																	0					0						c.(616-618)TGG>TGT		fatty acid desaturase domain family, member 6							28.0	37.0	34.0					17																	72877306		1975	4166	6141	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72877306C>A	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.618G>T	17.37:g.72877306C>A	ENSP00000307821:p.Trp206Cys					FADS6_uc010wrn.1_Intron	p.W206C	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			4	630	-	all_lung(278;0.172)|Lung NSC(278;0.207)		212			Helical; (Potential).		Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.618G>T	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574417	0.45902	.	.	ENSG00000172782	ENST00000310226	T	0.17370	2.28	5.08	5.08	0.68730	Fatty acid desaturase, type 1 (1);	0.062530	0.64402	D	0.000002	T	0.17323	0.0416	L	0.41824	1.3	0.80722	D	1	B	0.30686	0.29	B	0.32022	0.139	T	0.03212	-1.1060	10	0.38643	T	0.18	-24.9865	15.6352	0.76946	0.0:0.8628:0.1372:0.0	.	212	Q8N9I5	FADS6_HUMAN	C	206	ENSP00000307821:W206C	ENSP00000307821:W206C	W	-	3	0	FADS6	70388901	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.450000	0.60041	2.344000	0.79699	0.655000	0.94253	TGG		0.607	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			14	14	1	0	4.37e-10	9.86e-10	14	14				
LGALS3BP	3959	broad.mit.edu	37	17	76967754	76967754	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:76967754C>T	ENST00000262776.3	-	6	1970	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	554					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGAGGTGCTCTTCGAGCTGT	0.622											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	uc002jwh.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1660-1662)AAG>AAA		galectin 3 binding protein							63.0	58.0	60.0					17																	76967754		2203	4300	6503	SO:0001819	synonymous_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967754C>T	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1662G>A	17.37:g.76967754C>T			OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_uc002jwi.2_Silent_p.K360K|LGALS3BP_uc010dhr.2_Silent_p.K360K	p.K554K	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1841	-			554					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	c.1662G>A	CCDS11759.1																																																																																				0.622	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		12	136	0	0	0	0	12	136				
METRNL	284207	broad.mit.edu	37	17	81050915	81050915	+	Missense_Mutation	SNP	C	C	T	rs146370282		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:81050915C>T	ENST00000320095.7	+	3	685	c.560C>T	c.(559-561)cCg>cTg	p.P187L	METRNL_ENST00000570778.1_Missense_Mutation_p.P105L|METRNL_ENST00000571814.1_Missense_Mutation_p.P105L|METRNL_ENST00000571940.1_3'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	187					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCTCCAGCGCCGTGCCGTCCC	0.617																																						uc002kgh.2		NA																	0					0						c.(559-561)CCG>CTG		meteorin, glial cell differentiation		C	LEU/PRO	0,4402		0,0,2201	92.0	76.0	81.0		560	4.9	1.0	17	dbSNP_134	81	1,8597	1.2+/-3.3	0,1,4298	no	missense	METRNL	NM_001004431.1	98	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	187/312	81050915	1,12999	2201	4299	6500	SO:0001583	missense	284207					extracellular region		g.chr17:81050915C>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.560C>T	17.37:g.81050915C>T	ENSP00000315731:p.Pro187Leu					METRNL_uc002kgi.2_Missense_Mutation_p.P105L	p.P187L	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		3	685	+	Breast(20;0.000443)|all_neural(118;0.0779)		187					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.560C>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099701	0.76983	0.0	1.16E-4	ENSG00000176845	ENST00000320095	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	U	0.000000	T	0.60612	0.2282	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	P	0.56788	0.806	T	0.58020	-0.7710	8	.	.	.	-23.785	15.9789	0.80091	0.0:1.0:0.0:0.0	.	187	Q641Q3	METRL_HUMAN	L	187	.	.	P	+	2	0	METRNL	78644335	0.998000	0.40836	0.974000	0.42286	0.254000	0.26022	4.164000	0.58190	2.462000	0.83206	0.561000	0.74099	CCG		0.617	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		5	17	0	0	0	0	5	17				
POTEC	388468	broad.mit.edu	37	18	14537933	14537933	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:14537933A>T	ENST00000358970.5	-	3	676	c.677T>A	c.(676-678)cTg>cAg	p.L226Q	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	226										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCCATGTTCCAGCAACATTAA	0.383																																						uc010dln.2		NA																	0				skin(3)	3						c.(676-678)CTG>CAG		ANKRD26-like family B, member 2							391.0	309.0	333.0					18																	14537933		692	1591	2283	SO:0001583	missense	388468							g.chr18:14537933A>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.677T>A	18.37:g.14537933A>T	ENSP00000351856:p.Leu226Gln					POTEC_uc010xaj.1_RNA	p.L226Q	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			3	1131	-			226			ANK 3.			Missense_Mutation	SNP	ENST00000358970.5	37	c.677T>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353601	0.41700	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.73575	-0.76	1.4	1.4	0.22301	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.83175	0.5197	M	0.82630	2.6	0.36664	D	0.878134	D	0.76494	0.999	D	0.87578	0.998	T	0.83293	-0.0032	9	0.87932	D	0	.	4.9723	0.14123	1.0:0.0:0.0:0.0	.	226	B2RU33	POTEC_HUMAN	Q	226	ENSP00000351856:L226Q	ENSP00000351856:L226Q	L	-	2	0	POTEC	14527933	0.966000	0.33281	0.063000	0.19743	0.040000	0.13550	3.840000	0.55843	0.898000	0.36418	0.163000	0.16589	CTG		0.383	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		10	95	0	0	0	0	10	95				
ALPK2	115701	broad.mit.edu	37	18	56247140	56247140	+	Missense_Mutation	SNP	C	C	T	rs200278400		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:56247140C>T	ENST00000361673.3	-	4	1081	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	290						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGTTGGCCACGGCACTGTCA	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(868-870)GTG>ATG		heart alpha-kinase		C	MET/VAL	0,4406		0,0,2203	87.0	84.0	85.0		868	-10.5	0.0	18		85	2,8598	2.2+/-6.3	0,2,4298	no	missense	ALPK2	NM_052947.3	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	290/2171	56247140	2,13004	2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247140C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.868G>A	18.37:g.56247140C>T	ENSP00000354991:p.Val290Met		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.V290M	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1082	-			290					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.868G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860838	0.32884	0.0	2.33E-4	ENSG00000198796	ENST00000361673	T	0.43294	0.95	5.77	-10.5	0.00291	.	11.576700	0.00520	U	0.000182	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	P	0.37466	0.596	B	0.21708	0.036	T	0.33701	-0.9858	10	0.52906	T	0.07	2.6457	4.9364	0.13943	0.2749:0.069:0.469:0.1871	.	290	Q86TB3	ALPK2_HUMAN	M	290	ENSP00000354991:V290M	ENSP00000354991:V290M	V	-	1	0	ALPK2	54398120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.606000	0.00888	-1.349000	0.02202	-1.339000	0.01253	GTG		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		17	59	0	0	0	0	17	59				
CBLN2	147381	broad.mit.edu	37	18	70209167	70209167	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:70209167C>A	ENST00000269503.4	-	3	1002	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.A77S|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	77					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GAGGTGACGGCGCCGTCCGCC	0.711																																						uc002lku.2		NA																	0					0						c.(229-231)GCC>TCC		cerebellin 2 precursor							31.0	28.0	29.0					18																	70209167		2201	4299	6500	SO:0001583	missense	147381					integral to membrane		g.chr18:70209167C>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.229G>T	18.37:g.70209167C>A	ENSP00000269503:p.Ala77Ser					CBLN2_uc002lkv.2_Missense_Mutation_p.A77S	p.A77S	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			2	464	-		Esophageal squamous(42;0.131)	77					Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.229G>T	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194965	0.38806	.	.	ENSG00000141668	ENST00000269503	D	0.81579	-1.51	4.54	2.59	0.31030	.	0.129480	0.50627	D	0.000111	T	0.62829	0.2460	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.55250	-0.8170	10	0.30854	T	0.27	-14.8265	9.1124	0.36737	0.0:0.7687:0.1477:0.0836	.	77	Q8IUK8	CBLN2_HUMAN	S	77	ENSP00000269503:A77S	ENSP00000269503:A77S	A	-	1	0	CBLN2	68360147	0.898000	0.30612	0.841000	0.33234	0.987000	0.75469	0.997000	0.29731	1.049000	0.40321	0.462000	0.41574	GCC		0.711	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		8	15	1	0	0.000157383	0.000298551	8	15				
ARRDC5	645432	broad.mit.edu	37	19	4902866	4902866	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:4902866T>C	ENST00000381781.2	-	1	13	c.14A>G	c.(13-15)gAg>gGg	p.E5G	UHRF1_ENST00000592666.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	5										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAGACATTCCTCTCTGTCCCC	0.542																																						uc002mbm.2		NA																	0					0						c.(13-15)GAG>GGG		arrestin domain containing 5							45.0	46.0	46.0					19																	4902866		1906	4121	6027	SO:0001583	missense	645432				signal transduction			g.chr19:4902866T>C		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.14A>G	19.37:g.4902866T>C	ENSP00000371200:p.Glu5Gly						p.E5G	NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	1	14	-			5						Missense_Mutation	SNP	ENST00000381781.2	37	c.14A>G	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.391242	0.25118	.	.	ENSG00000205784	ENST00000381781	T	0.20069	2.1	4.26	0.958	0.19619	.	.	.	.	.	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37150	-0.9718	9	0.23302	T	0.38	.	5.4856	0.16747	0.0:0.5987:0.0:0.4013	.	5	A6NEK1	ARRD5_HUMAN	G	5	ENSP00000371200:E5G	ENSP00000371200:E5G	E	-	2	0	ARRDC5	4853866	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.812000	0.04496	0.281000	0.22233	0.528000	0.53228	GAG		0.542	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		21	33	0	0	0	0	21	33				
PRR22	163154	broad.mit.edu	37	19	5783814	5783814	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:5783814C>A	ENST00000419421.2	-	3	548	c.444G>T	c.(442-444)ccG>ccT	p.P148P		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	148	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGCCCTCAGGCGGGAAGTAGG	0.716																																						uc002mdb.1		NA																	0					0						c.(436-438)CCG>CCT		proline rich 22 isoform 2							3.0	6.0	5.0					19																	5783814		1973	3980	5953	SO:0001819	synonymous_variant	163154							g.chr19:5783814C>A	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.444G>T	19.37:g.5783814C>A						PRR22_uc010xiv.1_Silent_p.P148P	p.P146P	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN			1	797	-			146			Pro-rich.		E9PB31	Silent	SNP	ENST00000419421.2	37	c.438G>T	CCDS45933.1																																																																																				0.716	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		6	4	1	0	0.00116845	0.00211096	6	4				
MUC16	94025	broad.mit.edu	37	19	9012852	9012852	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9012852G>T	ENST00000397910.4	-	34	38795	c.38592C>A	c.(38590-38592)acC>acA	p.T12864T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12866	SEA 6. {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						ACTGCAGGTTGGTGATGGTGA	0.547																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38590-38592)ACC>ACA		mucin 16							252.0	213.0	226.0					19																	9012852		2026	4189	6215	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9012852G>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.38592C>A	19.37:g.9012852G>T						MUC16_uc010xki.1_RNA	p.T12864T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			34	38796	-			12866	Missing (in Ref. 3; AAK74120).		SEA 6.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38592C>A	CCDS54212.1																																																																																				0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	139	1	0	0.000274275	0.000509484	7	139				
MUC16	94025	broad.mit.edu	37	19	9049185	9049185	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9049185C>T	ENST00000397910.4	-	5	32649	c.32446G>A	c.(32446-32448)Ggt>Agt	p.G10816S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10818	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						GCTGGTTCACCAGGGGAGTTT	0.478																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(32446-32448)GGT>AGT		mucin 16							188.0	170.0	176.0					19																	9049185		1960	4159	6119	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049185C>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.32446G>A	19.37:g.9049185C>T	ENSP00000381008:p.Gly10816Ser						p.G10816S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	32650	-			10818			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32446G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.925	0.961977	0.18583	.	.	ENSG00000181143	ENST00000397910	T	0.03468	3.92	3.02	-4.13	0.03904	.	.	.	.	.	T	0.02888	0.0086	N	0.14661	0.345	.	.	.	D	0.54964	0.969	P	0.47981	0.563	T	0.38650	-0.9651	8	0.87932	D	0	.	5.8204	0.18524	0.0:0.2679:0.5086:0.2236	.	10816	B5ME49	.	S	10816	ENSP00000381008:G10816S	ENSP00000381008:G10816S	G	-	1	0	MUC16	8910185	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.909000	0.04058	-0.644000	0.05465	-0.383000	0.06682	GGT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	82	0	0	0	0	30	82				
MUC16	94025	broad.mit.edu	37	19	9085769	9085769	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9085769G>A	ENST00000397910.4	-	1	6249	c.6046C>T	c.(6046-6048)Cat>Tat	p.H2016Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2016	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						GAATTCTCATGGGTAGGGGAA	0.463																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6046-6048)CAT>TAT		mucin 16							114.0	110.0	111.0					19																	9085769		1995	4160	6155	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085769G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6046C>T	19.37:g.9085769G>A	ENSP00000381008:p.His2016Tyr						p.H2016Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6250	-			2016			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6046C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.432	-0.570088	0.03910	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	0.235	0.235	0.15431	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	.	.	.	P	0.42039	0.769	P	0.49332	0.607	T	0.44757	-0.9307	7	0.87932	D	0	.	.	.	.	.	2016	B5ME49	.	Y	2016	ENSP00000381008:H2016Y	ENSP00000381008:H2016Y	H	-	1	0	MUC16	8946769	0.013000	0.17824	0.145000	0.22337	0.148000	0.21650	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CAT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	52	0	0	0	0	17	52				
OR7D2	162998	broad.mit.edu	37	19	9297244	9297244	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9297244G>A	ENST00000344248.2	+	1	966	c.787G>A	c.(787-789)Gcg>Acg	p.A263T		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	263					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTTCACTTCTGCGGTGACTCA	0.512																																						uc002mkz.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(787-789)GCG>ACG		olfactory receptor, family 7, subfamily D,							90.0	80.0	83.0					19																	9297244		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297244G>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.787G>A	19.37:g.9297244G>A	ENSP00000345563:p.Ala263Thr						p.A263T	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	975	+			263			Extracellular (Potential).		Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.787G>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354408	0.24512	.	.	ENSG00000188000	ENST00000344248	T	0.00107	8.72	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.385589	0.18737	U	0.132553	T	0.00109	0.0003	N	0.16478	0.41	0.09310	N	1	B	0.24920	0.114	B	0.31869	0.137	T	0.15235	-1.0444	10	0.45353	T	0.12	.	9.0965	0.36642	0.0:0.2281:0.7719:0.0	.	263	Q96RA2	OR7D2_HUMAN	T	263	ENSP00000345563:A263T	ENSP00000345563:A263T	A	+	1	0	OR7D2	9158244	0.000000	0.05858	0.011000	0.14972	0.002000	0.02628	-0.860000	0.04272	1.583000	0.49898	0.511000	0.50034	GCG		0.512	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			23	58	0	0	0	0	23	58				
CPAMD8	27151	broad.mit.edu	37	19	17122307	17122307	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:17122307G>A	ENST00000443236.1	-	5	625	c.594C>T	c.(592-594)acC>acT	p.T198T	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Silent_p.T151T	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	151						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGGAGAGACGGTGAAGATGC	0.587																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(592-594)ACC>ACT		C3 and PZP-like, alpha-2-macroglobulin domain							104.0	104.0	104.0					19																	17122307		1943	4146	6089	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17122307G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.594C>T	19.37:g.17122307G>A							p.T198T	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			5	626	-			151					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.594C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	1.178	-0.638911	0.03557	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.16	-6.31	0.02001	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.33727	-0.9857	4	.	.	.	.	7.1006	0.25336	0.2175:0.4334:0.3491:0.0	.	.	.	.	L	209	.	.	P	-	2	0	CPAMD8	16983307	0.984000	0.35163	0.610000	0.28997	0.243000	0.25628	-0.073000	0.11468	-0.937000	0.03719	0.655000	0.94253	CCG		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		30	70	0	0	0	0	30	70				
ZNF737	100129842	broad.mit.edu	37	19	20727499	20727499	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:20727499T>G	ENST00000427401.4	-	4	1604	c.1510A>C	c.(1510-1512)Act>Cct	p.T504P		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	504					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTCTCTCCAGTATGAATTCTC	0.393																																						uc002npa.2		NA																	0				ovary(1)	1						c.(1510-1512)ACT>CCT		zinc finger protein 737							47.0	53.0	52.0					19																	20727499		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727499T>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1510A>C	19.37:g.20727499T>G	ENSP00000395733:p.Thr504Pro						p.T504P	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1690	-			504					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1510A>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	10.59	1.392540	0.25118	.	.	ENSG00000237440	ENST00000427401	T	0.25749	1.78	0.801	0.801	0.18679	.	.	.	.	.	T	0.41143	0.1146	M	0.78801	2.425	0.31827	N	0.625176	D	0.52996	0.957	P	0.58577	0.841	T	0.49123	-0.8972	9	0.87932	D	0	.	5.4149	0.16368	0.0:0.0:0.0:1.0	.	504	C9JHM3	.	P	504	ENSP00000395733:T504P	ENSP00000395733:T504P	T	-	1	0	ZNF737	20519339	0.906000	0.30813	0.666000	0.29783	0.666000	0.39218	1.030000	0.30153	0.147000	0.19030	0.145000	0.16022	ACT		0.393	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	16	0	0	0	0	4	16				
ZNF257	113835	broad.mit.edu	37	19	22272134	22272134	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:22272134T>A	ENST00000594947.1	+	4	1726	c.1582T>A	c.(1582-1584)Tca>Aca	p.S528T		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAATCGTTTCTCATACCTTAC	0.388																																						uc010ecx.2		NA																	0					0						c.(1582-1584)TCA>ACA		zinc finger protein 257							35.0	39.0	37.0					19																	22272134		2103	4255	6358	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22272134T>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1582T>A	19.37:g.22272134T>A	ENSP00000470209:p.Ser528Thr					ZNF257_uc010ecy.2_Missense_Mutation_p.S496T	p.S528T	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1751	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	528			C2H2-type 13.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1582T>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	T	6.783	0.513460	0.12944	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.68	0.11346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29850	0.0746	L	0.49571	1.57	0.09310	N	1	B	0.26809	0.16	B	0.23275	0.045	T	0.32214	-0.9915	8	0.51188	T	0.08	.	2.1253	0.03737	0.2569:0.208:0.0:0.5351	.	528	Q9Y2Q1	ZN257_HUMAN	T	528;500	.	ENSP00000380312:S500T	S	+	1	0	ZNF257	22063974	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.209000	0.09358	0.436000	0.26393	0.260000	0.18958	TCA		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			6	24	0	0	0	0	6	24				
ZNF254	9534	broad.mit.edu	37	19	24310288	24310288	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:24310288G>T	ENST00000357002.4	+	4	1601	c.1486G>T	c.(1486-1488)Ggc>Tgc	p.G496C	ZNF254_ENST00000342944.6_Missense_Mutation_p.G411C	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	496					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGAAGAATGTGGCAAATCTTT	0.398																																						uc002nru.2		NA																	0					0						c.(1486-1488)GGC>TGC		zinc finger protein 254							60.0	62.0	61.0					19																	24310288		2202	4297	6499	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310288G>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1486G>T	19.37:g.24310288G>T	ENSP00000349494:p.Gly496Cys					ZNF254_uc010xrk.1_Missense_Mutation_p.G411C	p.G496C	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	1620	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	496			C2H2-type 11.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1486G>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464191	0.26335	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.01516	4.81;4.81	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12390	0.0301	H	0.94423	3.535	0.34518	D	0.707863	D	0.89917	1.0	D	0.97110	1.0	T	0.08617	-1.0713	9	0.72032	D	0.01	.	7.6087	0.28118	0.0:0.0:1.0:0.0	.	496	O75437	ZN254_HUMAN	C	411;496	ENSP00000445527:G411C;ENSP00000349494:G496C	ENSP00000445527:G411C	G	+	1	0	ZNF254	24102128	1.000000	0.71417	0.196000	0.23383	0.396000	0.30629	6.576000	0.74023	0.525000	0.28522	0.298000	0.19748	GGC		0.398	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		10	40	1	0	0.000442599	0.000813707	10	40				
DLL3	10683	broad.mit.edu	37	19	39994757	39994757	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:39994757G>T	ENST00000205143.4	+	5	706	c.699G>T	c.(697-699)caG>caT	p.Q233H	DLL3_ENST00000356433.5_Missense_Mutation_p.Q233H	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	233	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	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)			TCTGTGAACAGCCCGGTGAAT	0.647																																						uc002olx.2		NA																	0				central_nervous_system(2)|breast(1)	3						c.(697-699)CAG>CAT		delta-like 3 protein isoform 1 precursor							74.0	70.0	72.0					19																	39994757		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39994757G>T	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.699G>T	19.37:g.39994757G>T	ENSP00000205143:p.Gln233His					DLL3_uc010egq.2_Missense_Mutation_p.Q233H|DLL3_uc002olw.2_Missense_Mutation_p.Q233H	p.Q233H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	757	+	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)		233			EGF-like 1.|Extracellular (Potential).		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.699G>T	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191631	0.38707	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.89270	-2.43;-2.49	4.87	0.0162	0.14107	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.652448	0.13727	N	0.366967	D	0.85075	0.5614	M	0.69358	2.11	0.32175	N	0.581154	P;P;P	0.45283	0.855;0.761;0.641	B;B;B	0.41510	0.359;0.275;0.19	T	0.81583	-0.0866	9	.	.	.	.	6.1588	0.20352	0.2257:0.0:0.6434:0.1309	.	233;233;233	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	H	233	ENSP00000348810:Q233H;ENSP00000205143:Q233H	.	Q	+	3	2	DLL3	44686597	0.235000	0.23794	0.875000	0.34327	0.113000	0.19764	0.451000	0.21779	0.044000	0.15775	0.561000	0.74099	CAG		0.647	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			9	47	1	0	3.86e-05	7.46e-05	9	47				
AXL	558	broad.mit.edu	37	19	41754717	41754717	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:41754717C>T	ENST00000301178.4	+	14	1893	c.1703C>T	c.(1702-1704)aCg>aTg	p.T568M	AXL_ENST00000593513.1_Missense_Mutation_p.T300M|AXL_ENST00000359092.3_Missense_Mutation_p.T559M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	568	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTGTGAAGACGATGAAGAGT	0.547																																						uc010ehj.2		NA																	0				lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(1702-1704)ACG>ATG		AXL receptor tyrosine kinase isoform 1							106.0	95.0	99.0					19																	41754717		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41754717C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1703C>T	19.37:g.41754717C>T	ENSP00000301178:p.Thr568Met					CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.T559M	p.T568M	NM_021913	NP_068713	P30530	UFO_HUMAN			14	1893	+			568			Cytoplasmic (Potential).|Protein kinase.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1703C>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906206	0.52333	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.62364	0.03;0.03	5.01	5.01	0.66863	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.057547	0.64402	D	0.000002	T	0.68229	0.2978	N	0.25890	0.77	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64740	-0.6336	10	0.27082	T	0.32	-18.2598	17.2483	0.87034	0.0:1.0:0.0:0.0	.	559;568	P30530-2;P30530	.;UFO_HUMAN	M	568;559	ENSP00000301178:T568M;ENSP00000351995:T559M	ENSP00000301178:T568M	T	+	2	0	AXL	46446557	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	4.428000	0.59894	2.588000	0.87417	0.655000	0.94253	ACG		0.547	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			5	27	0	0	0	0	5	27				
PSG2	5670	broad.mit.edu	37	19	43579547	43579547	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:43579547C>A	ENST00000406487.1	-	3	766	c.668G>T	c.(667-669)gGg>gTg	p.G223V		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	223	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GCTGGCACTCCCTGAGTTCCG	0.507																																						uc002ovr.2		NA																	0					0						c.(667-669)GGG>GTG		pregnancy specific beta-1-glycoprotein 2							225.0	236.0	232.0					19																	43579547		2202	4298	6500	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579547C>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.668G>T	19.37:g.43579547C>A	ENSP00000385706:p.Gly223Val					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.G223V|PSG2_uc010eiq.1_Missense_Mutation_p.G223V|PSG2_uc002ovs.3_Missense_Mutation_p.G223V|PSG2_uc002ovt.3_Missense_Mutation_p.G223V	p.G223V	NM_031246	NP_112536	P11465	PSG2_HUMAN			3	761	-		Prostate(69;0.00682)	223			Ig-like C2-type 1.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.668G>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.827462	0.00004	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.12774	2.65	1.33	-2.66	0.06077	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02230	0.0069	N	0.00254	-1.765	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.18935	-1.0321	9	0.02654	T	1	.	6.849	0.24005	0.5498:0.4502:0.0:0.0	.	223;223	B5MCM8;P11465	.;PSG2_HUMAN	V	223	ENSP00000385706:G223V	ENSP00000332984:G223V	G	-	2	0	PSG2	48271387	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.292000	0.08332	-2.896000	0.00313	-2.443000	0.00211	GGG		0.507	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		69	306	1	0	9.96e-45	2.49e-44	69	306				
FKRP	79147	broad.mit.edu	37	19	47259844	47259844	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:47259844G>C	ENST00000318584.5	+	4	1434	c.1137G>C	c.(1135-1137)cgG>cgC	p.R379R	FKRP_ENST00000391909.3_Silent_p.R379R|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	379					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGCAGCTGCGGGGGGCAGAGG	0.657																																						uc002pfn.2		NA																	0				pancreas(1)	1						c.(1135-1137)CGG>CGC		fukutin-related protein							33.0	23.0	27.0					19																	47259844		2203	4299	6502	SO:0001819	synonymous_variant	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259844G>C	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1137G>C	19.37:g.47259844G>C						FKRP_uc002pfp.2_Silent_p.R379R	p.R379R	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	1434	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	379					A8K5G7	Silent	SNP	ENST00000318584.5	37	c.1137G>C	CCDS12691.1																																																																																				0.657	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		4	17	0	0	0	0	4	17				
SIGLEC11	114132	broad.mit.edu	37	19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C	rs201935510	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GTCTGTCCCCACCGGGTCCAG	0.682																																						uc010ybh.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1216-1218)TGG>GGG		sialic acid binding Ig-like lectin 11 isoform 1							31.0	37.0	35.0					19																	50462047		2203	4299	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462047A>C	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1216T>G	19.37:g.50462047A>C	ENSP00000412361:p.Trp406Gly					SIGLEC11_uc010ybi.1_Missense_Mutation_p.W406G	p.W406G	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1307	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	406			Ig-like C2-type 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000447370.2	37	c.1216T>G	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913951	0.02415	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.06608	3.28	2.6	0.235	0.15431	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.580110	0.03342	N	0.194914	T	0.00754	0.0025	N	0.00002	-3.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50750	-0.8791	9	.	.	.	.	3.7679	0.08630	0.2384:0.6144:0.0:0.1472	.	406;406	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	406	ENSP00000412361:W406G	.	W	-	1	0	SIGLEC11	55153859	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.318000	0.08050	0.003000	0.14656	-1.045000	0.02358	TGG		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		3	70	0	0	0	0	3	70				
SIGLEC6	946	broad.mit.edu	37	19	52034090	52034090	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:52034090G>A	ENST00000425629.3	-	3	705	c.551C>T	c.(550-552)tCa>tTa	p.S184L	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S173L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S184L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S184L|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.S184L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S148L	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	184	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGCAGCTGACATCCAGGA	0.657																																						uc002pwy.2		NA																	0				ovary(1)	1						c.(550-552)TCA>TTA		sialic acid binding Ig-like lectin 6 isoform 1							65.0	69.0	68.0					19																	52034090		2203	4300	6503	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034090G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.551C>T	19.37:g.52034090G>A	ENSP00000401502:p.Ser184Leu					SIGLEC6_uc002pwz.2_Missense_Mutation_p.S184L|SIGLEC6_uc002pxa.2_Missense_Mutation_p.S184L|SIGLEC6_uc010ydb.1_Missense_Mutation_p.S137L|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S173L|SIGLEC6_uc010eoz.1_Missense_Mutation_p.S162L|SIGLEC6_uc010epb.1_Missense_Mutation_p.S137L|SIGLEC6_uc010epa.1_Missense_Mutation_p.S173L	p.S184L	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	713	-		all_neural(266;0.0199)	184			Ig-like C2-type 1.|Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.551C>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164935	0.38217	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T	0.03413	3.94;3.94;3.94;3.94	3.23	-5.95	0.02241	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.567790	0.04744	N	0.423285	T	0.16854	0.0405	M	0.87097	2.86	0.09310	N	1	D;D;D;D;D;D;D	0.89917	0.957;0.992;1.0;0.98;0.996;0.991;0.984	P;D;D;P;D;P;D	0.74674	0.864;0.944;0.984;0.864;0.944;0.864;0.944	T	0.41305	-0.9516	10	0.51188	T	0.08	.	8.6169	0.33838	0.112:0.6754:0.2126:0.0	.	184;148;173;173;184;184;184	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	L	173;184;184;184;148;184;173	ENSP00000401502:S184L;ENSP00000353071:S184L;ENSP00000410679:S148L;ENSP00000345907:S184L	ENSP00000345907:S184L	S	-	2	0	SIGLEC6	56725902	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.097000	0.11042	-0.670000	0.05282	-0.502000	0.04539	TCA		0.657	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		15	66	0	0	0	0	15	66				
ZNF615	284370	broad.mit.edu	37	19	52505068	52505068	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:52505068G>T	ENST00000602063.1	-	5	585	c.236C>A	c.(235-237)tCt>tAt	p.S79Y	ZNF615_ENST00000376716.5_Missense_Mutation_p.S79Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.S79Y|ZNF615_ENST00000595114.1_5'Flank|ZNF615_ENST00000391795.3_Missense_Mutation_p.S84Y|ZNF615_ENST00000597747.1_Missense_Mutation_p.S79Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.S79Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	79	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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCACTCACCAGAACAGATTCG	0.507																																						uc002pye.1		NA																	0				ovary(4)|skin(1)	5						c.(235-237)TCT>TAT		zinc finger protein 615							131.0	91.0	104.0					19																	52505068		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52505068G>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.236C>A	19.37:g.52505068G>T	ENSP00000473089:p.Ser79Tyr					ZNF615_uc002pyf.1_Missense_Mutation_p.S79Y|ZNF615_uc002pyg.1_Translation_Start_Site|ZNF615_uc002pyh.1_Missense_Mutation_p.S79Y|ZNF615_uc010epi.1_Missense_Mutation_p.S75Y|ZNF615_uc010ydg.1_Missense_Mutation_p.S84Y	p.S79Y	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	5	528	-		all_neural(266;0.117)	79			KRAB.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.236C>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	6.956	0.546245	0.13312	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.08370	3.12;3.1	2.81	-2.27	0.06846	Krueppel-associated box (1);	.	.	.	.	T	0.10208	0.0250	M	0.81497	2.545	0.09310	N	1	B;B;B;B	0.33171	0.278;0.4;0.4;0.278	B;B;B;B	0.31337	0.037;0.128;0.128;0.037	T	0.24083	-1.0170	9	0.87932	D	0	.	3.6131	0.08067	0.4064:0.1935:0.4001:0.0	.	84;75;79;79	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Y	79;78;84;78	ENSP00000365906:S79Y;ENSP00000375672:S84Y	ENSP00000347019:S78Y	S	-	2	0	ZNF615	57196880	0.116000	0.22171	0.001000	0.08648	0.009000	0.06853	0.122000	0.15687	-0.380000	0.07894	-2.880000	0.00097	TCT		0.507	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		8	33	1	0	5.18e-06	1.05e-05	8	33				
NLRP13	126204	broad.mit.edu	37	19	56422098	56422098	+	Splice_Site	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:56422098T>A	ENST00000342929.3	-	6	2112	c.2113A>T	c.(2113-2115)Aca>Tca	p.T705S	NLRP13_ENST00000588751.1_Splice_Site_p.T705S	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	705							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACTTGCTTGTCCTTCATGAG	0.438																																						uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2113-2115)ACA>TCA		NACHT, leucine rich repeat and PYD containing							142.0	124.0	130.0					19																	56422098		2203	4300	6503	SO:0001630	splice_region_variant	126204						ATP binding	g.chr19:56422098T>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2112-1A>T	19.37:g.56422098T>A							p.T705S	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2138	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	705					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2113A>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	0.270	-0.993830	0.02145	.	.	ENSG00000173572	ENST00000342929	T	0.52526	0.66	1.89	-0.431	0.12295	.	.	.	.	.	T	0.17874	0.0429	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	9	0.20519	T	0.43	.	1.7025	0.02875	0.2863:0.186:0.0:0.5277	.	705	Q86W25	NAL13_HUMAN	S	705	ENSP00000343891:T705S	ENSP00000343891:T705S	T	-	1	0	NLRP13	61113910	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.151000	0.03175	-0.194000	0.10399	-0.451000	0.05528	ACA		0.438	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	Missense_Mutation	18	75	0	0	0	0	18	75				
PEG3	5178	broad.mit.edu	37	19	57326339	57326339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:57326339G>T	ENST00000326441.9	-	10	3834	c.3471C>A	c.(3469-3471)taC>taA	p.Y1157*	PEG3_ENST00000593695.1_Nonsense_Mutation_p.Y1031*|PEG3_ENST00000423103.2_Nonsense_Mutation_p.Y1157*|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.Y1033*|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1157					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)		GCTCTCCAGTGTAATCTCTCT	0.448																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3469-3471)TAC>TAA		paternally expressed 3 isoform 1							160.0	148.0	152.0					19																	57326339		2203	4300	6503	SO:0001587	stop_gained	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326339G>T	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.3471C>A	19.37:g.57326339G>T	ENSP00000326581:p.Tyr1157*					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_Nonsense_Mutation_p.Y1128*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Y1157*|PEG3_uc002qnw.2_Nonsense_Mutation_p.Y1033*|PEG3_uc002qnx.2_Nonsense_Mutation_p.Y1031*|PEG3_uc010etr.2_Nonsense_Mutation_p.Y1157*	p.Y1157*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3822	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1157					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	ENST00000326441.9	37	c.3471C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	41	9.141568	0.99078	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	.	.	.	4.33	-0.131	0.13494	.	1.731670	0.02998	N	0.147750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	0.0197	8.2369	0.31631	0.3537:0.0:0.6463:0.0	.	.	.	.	X	1157	.	ENSP00000326581:Y1157X	Y	-	3	2	ZIM2	62018151	0.006000	0.16342	0.000000	0.03702	0.848000	0.48234	1.179000	0.31993	0.091000	0.17302	-0.136000	0.14681	TAC		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			27	111	1	0	1.74e-06	3.62e-06	27	111				
SDC1	6382	broad.mit.edu	37	2	20402571	20402571	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:20402571C>A	ENST00000254351.4	-	5	1133	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	SDC1_ENST00000381150.1_Missense_Mutation_p.G297W|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	297					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGGTAGGCCCCGCCGTTGGCT	0.602																																						uc002rdo.1		NA																	0				ovary(4)|skin(1)	5						c.(889-891)GGG>TGG		syndecan 1 precursor							111.0	112.0	112.0					2																	20402571		2203	4300	6503	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20402571C>A	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.889G>T	2.37:g.20402571C>A	ENSP00000254351:p.Gly297Trp					SDC1_uc002rdp.1_Missense_Mutation_p.G297W|SDC1_uc010exv.2_Intron	p.G297W	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	5	1188	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		297			Cytoplasmic (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.889G>T	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515442	0.64634	.	.	ENSG00000115884	ENST00000254351;ENST00000381150	T;T	0.19394	2.15;2.15	4.89	4.89	0.63831	.	0.123889	0.35739	N	0.003014	T	0.47619	0.1455	M	0.76574	2.34	0.39509	D	0.968326	D	0.89917	1.0	D	0.97110	1.0	T	0.53683	-0.8404	10	0.87932	D	0	-27.7316	15.9337	0.79686	0.0:1.0:0.0:0.0	.	297	P18827	SDC1_HUMAN	W	297	ENSP00000254351:G297W;ENSP00000370542:G297W	ENSP00000254351:G297W	G	-	1	0	SDC1	20266052	0.079000	0.21365	0.835000	0.33067	0.714000	0.41099	1.481000	0.35476	2.421000	0.82119	0.561000	0.74099	GGG		0.602	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		7	253	1	0	0.00198382	0.00355328	7	253				
DNMT3A	1788	broad.mit.edu	37	2	25469921	25469921	+	Splice_Site	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:25469921T>A	ENST00000264709.3	-	9	1458	c.1121A>T	c.(1120-1122)cAg>cTg	p.Q374L	DNMT3A_ENST00000380746.4_Splice_Site_p.Q185L|DNMT3A_ENST00000321117.5_Splice_Site_p.Q374L|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Splice_Site_p.Q151L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	374	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACTCACCTGCAGGACCTC	0.602			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1120-1122)CAG>CTG		DNA cytosine methyltransferase 3 alpha isoform							106.0	75.0	86.0					2																	25469921		2203	4300	6503	SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469921T>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1122+1A>T	2.37:g.25469921T>A						DNMT3A_uc002rgd.2_Missense_Mutation_p.Q374L|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Q185L	p.Q374L	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			9	1378	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		374			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1121A>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276620	0.59758	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	L	0.29908	0.895	0.80722	D	1	B;B	0.21821	0.061;0.006	B;B	0.14578	0.011;0.002	T	0.59841	-0.7378	10	0.59425	D	0.04	-10.7878	12.7772	0.57455	0.0:0.0:0.0:1.0	.	374;185	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	L	185;374;374;151	ENSP00000370122:Q185L;ENSP00000324375:Q374L;ENSP00000264709:Q374L;ENSP00000384237:Q151L	ENSP00000264709:Q374L	Q	-	2	0	DNMT3A	25323425	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.045000	0.71020	1.945000	0.56424	0.533000	0.62120	CAG		0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Missense_Mutation	6	31	0	0	0	0	6	31				
GPR75	10936	broad.mit.edu	37	2	54081598	54081598	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:54081598G>A	ENST00000394705.2	-	2	566	c.296C>T	c.(295-297)cCc>cTc	p.P99L	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	99	Phe-rich.		P -> L (in a patient with age-related macular degeneration; unknown pathological significance). {ECO:0000269|PubMed:11466257}.		chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTGAACATGGGGGCTGTCAC	0.458																																						uc002rxo.3		NA																	0				ovary(1)|skin(1)	2						c.(295-297)CCC>CTC		G protein-coupled receptor 75							73.0	74.0	74.0					2																	54081598		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081598G>A	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.296C>T	2.37:g.54081598G>A	ENSP00000378195:p.Pro99Leu					ASB3_uc002rxi.3_Intron	p.P99L	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	567	-			99			Helical; Name=2; (Potential).|Phe-rich.		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.296C>T	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129897	0.77549	.	.	ENSG00000119737	ENST00000394705	T	0.47177	0.85	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75581	-0.3268	9	0.87932	D	0	-17.7318	19.7261	0.96164	0.0:0.0:1.0:0.0	.	99	O95800	GPR75_HUMAN	L	99	ENSP00000378195:P99L	ENSP00000378195:P99L	P	-	2	0	GPR75	53935102	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	9.257000	0.95545	2.667000	0.90743	0.561000	0.74099	CCC		0.458	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			7	95	0	0	0	0	7	95				
PLEK	5341	broad.mit.edu	37	2	68613641	68613641	+	Silent	SNP	C	C	T	rs151222226		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:68613641C>T	ENST00000234313.7	+	5	659	c.480C>T	c.(478-480)tgC>tgT	p.C160C		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	160	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TAGGTAACTGCGTCATTGATT	0.532																																						uc002sen.3		NA																	0				ovary(1)	1						c.(478-480)TGC>TGT		pleckstrin		C		1,4405	2.1+/-5.4	0,1,2202	111.0	94.0	100.0		480	2.9	1.0	2	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	PLEK	NM_002664.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		160/351	68613641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68613641C>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.480C>T	2.37:g.68613641C>T						PLEK_uc010fde.2_Silent_p.C160C	p.C160C	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	5	642	+		Ovarian(717;0.0129)	160			DEP.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	c.480C>T	CCDS1887.1																																																																																				0.532	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		11	36	0	0	0	0	11	36				
C2orf78	388960	broad.mit.edu	37	2	74043891	74043891	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:74043891C>A	ENST00000409561.1	+	3	2662	c.2541C>A	c.(2539-2541)atC>atA	p.I847I		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	847										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AATTTCTAATCCAAGACTTCA	0.527																																						uc002sjr.1		NA																	0				ovary(2)	2						c.(2539-2541)ATC>ATA		hypothetical protein LOC388960							102.0	100.0	100.0					2																	74043891		1951	4163	6114	SO:0001819	synonymous_variant	388960							g.chr2:74043891C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2541C>A	2.37:g.74043891C>A							p.I847I	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	2662	+			847						Silent	SNP	ENST00000409561.1	37	c.2541C>A	CCDS46338.1																																																																																				0.527	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		20	79	1	0	0.000132079	0.000252077	20	79				
LRRTM4	80059	broad.mit.edu	37	2	77746278	77746278	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:77746278G>T	ENST00000409093.1	-	3	1053	c.717C>A	c.(715-717)aaC>aaA	p.N239K	LRRTM4_ENST00000409088.3_Missense_Mutation_p.N239K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.N240K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N240K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.N239K			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	239					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGCGAATCCTGTTCCATTGTA	0.448																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(715-717)AAC>AAA		leucine rich repeat transmembrane neuronal 4							57.0	55.0	55.0					2																	77746278		1896	4098	5994	SO:0001583	missense	80059					integral to membrane		g.chr2:77746278G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.717C>A	2.37:g.77746278G>T	ENSP00000386357:p.Asn239Lys					LRRTM4_uc002snq.2_Missense_Mutation_p.N239K|LRRTM4_uc002sns.2_Missense_Mutation_p.N239K|LRRTM4_uc002snt.2_Missense_Mutation_p.N240K	p.N239K	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1132	-			239			LRR 8.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.717C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272595	0.40194	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.93	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	H	0.98818	4.34	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92643	0.6126	10	0.87932	D	0	.	10.7382	0.46137	0.2099:0.0:0.7901:0.0	.	240;239;239	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	K	240;239;239;239;240	ENSP00000387228:N240K;ENSP00000387297:N239K;ENSP00000386357:N239K;ENSP00000386236:N239K;ENSP00000386286:N240K	ENSP00000386236:N239K	N	-	3	2	LRRTM4	77599786	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.514000	0.35834	1.503000	0.48686	0.655000	0.94253	AAC		0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		3	20	1	0	0.004672	0.00828519	3	20				
CTNNA2	1496	broad.mit.edu	37	2	80101253	80101253	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80101253C>G	ENST00000402739.4	+	5	642	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	CTNNA2_ENST00000496558.1_Missense_Mutation_p.L213V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L247V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L213V|CTNNA2_ENST00000466387.1_Missense_Mutation_p.L213V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L213V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	213					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						CCGAGGGGCTCTGAAGAAGAA	0.517																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(637-639)CTG>GTG		catenin, alpha 2 isoform 1							45.0	50.0	48.0					2																	80101253		2044	4195	6239	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.chr2:80101253C>G		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.637C>G	2.37:g.80101253C>G	ENSP00000384638:p.Leu213Val					CTNNA2_uc010yse.1_Missense_Mutation_p.L213V|CTNNA2_uc010ysf.1_Missense_Mutation_p.L213V|CTNNA2_uc010ysg.1_Missense_Mutation_p.L213V	p.L213V	NM_004389	NP_004380	P26232	CTNA2_HUMAN			5	642	+			213					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.637C>G		.	.	.	.	.	.	.	.	.	.	C	20.5	4.008133	0.75046	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.7	4.81	0.61882	.	0.000000	0.64402	D	0.000010	T	0.73737	0.3625	M	0.82132	2.575	0.58432	D	0.999997	P;P;P	0.37688	0.525;0.605;0.605	P;P;P	0.48552	0.461;0.581;0.581	T	0.76383	-0.2979	10	0.56958	D	0.05	.	15.0821	0.72122	0.0:0.9308:0.0:0.0692	.	213;213;213	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	V	213;213;247;213;213;213	ENSP00000418191:L213V;ENSP00000419295:L213V;ENSP00000355398:L247V;ENSP00000384638:L213V;ENSP00000444675:L213V;ENSP00000441705:L213V	ENSP00000355398:L247V	L	+	1	2	CTNNA2	79954761	0.997000	0.39634	0.999000	0.59377	0.995000	0.86356	2.160000	0.42348	2.693000	0.91896	0.650000	0.86243	CTG		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		13	35	0	0	0	0	13	35				
LRRTM1	347730	broad.mit.edu	37	2	80529767	80529767	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80529767G>T	ENST00000295057.3	-	2	1834	c.1178C>A	c.(1177-1179)aCg>aAg	p.T393K	LRRTM1_ENST00000409148.1_Missense_Mutation_p.T393K|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	393					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GTCCGCGAGCGTGGTGGCCGA	0.716										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1177-1179)ACG>AAG		leucine rich repeat transmembrane neuronal 1							18.0	19.0	19.0					2																	80529767		2191	4282	6473	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529767G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1178C>A	2.37:g.80529767G>T	ENSP00000295057:p.Thr393Lys	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.T393K	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1448	-			393			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1178C>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	8.283	0.815934	0.16607	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.38722	1.12;1.12	5.32	5.32	0.75619	.	1.321060	0.05102	U	0.487387	T	0.28764	0.0713	N	0.08118	0	0.32065	N	0.595167	B	0.11235	0.004	B	0.10450	0.005	T	0.06303	-1.0834	9	.	.	.	.	13.3187	0.60421	0.076:0.0:0.924:0.0	.	393	Q86UE6	LRRT1_HUMAN	K	393	ENSP00000295057:T393K;ENSP00000386646:T393K	.	T	-	2	0	LRRTM1	80383278	1.000000	0.71417	0.963000	0.40424	0.698000	0.40448	3.245000	0.51407	2.452000	0.82932	0.655000	0.94253	ACG		0.716	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		11	32	1	0	1.58e-08	3.46e-08	11	32				
SLC9A2	6549	broad.mit.edu	37	2	103324786	103324786	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:103324786G>C	ENST00000233969.2	+	12	2419	c.2277G>C	c.(2275-2277)acG>acC	p.T759T		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	759					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCACCCAGACGTCAGGCTTAC	0.552																																						uc002tca.2		NA																	0				central_nervous_system(3)|skin(3)|breast(2)	8						c.(2275-2277)ACG>ACC		solute carrier family 9 (sodium/hydrogen							131.0	139.0	137.0					2																	103324786		2203	4300	6503	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324786G>C		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2277G>C	2.37:g.103324786G>C							p.T759T	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			12	2419	+			759			Cytoplasmic (Potential).		B2RMS2	Silent	SNP	ENST00000233969.2	37	c.2277G>C	CCDS2062.1																																																																																				0.552	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			33	75	0	0	0	0	33	75				
CCDC138	165055	broad.mit.edu	37	2	109405345	109405345	+	Silent	SNP	A	A	T	rs186096514		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:109405345A>T	ENST00000295124.4	+	3	249	c.189A>T	c.(187-189)tcA>tcT	p.S63S	CCDC138_ENST00000412964.2_Silent_p.S63S|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	63										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AAGTTGGTTCATCGTTAAAAT	0.358																																						uc002ten.1		NA																	0					0						c.(187-189)TCA>TCT		coiled-coil domain containing 138							170.0	163.0	166.0					2																	109405345		2203	4300	6503	SO:0001819	synonymous_variant	165055							g.chr2:109405345A>T	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.189A>T	2.37:g.109405345A>T						CCDC138_uc002teo.1_Silent_p.S63S|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	p.S63S	NM_144978	NP_659415	Q96M89	CC138_HUMAN			3	249	+			63					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Silent	SNP	ENST00000295124.4	37	c.189A>T	CCDS2080.1																																																																																				0.358	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		18	39	0	0	0	0	18	39				
BUB1	699	broad.mit.edu	37	2	111417591	111417591	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:111417591C>T	ENST00000302759.6	-	11	1358	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	BUB1_ENST00000535254.1_Missense_Mutation_p.E394K|BUB1_ENST00000409311.1_Missense_Mutation_p.E414K	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	414					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGCTTGAATTCATGAGTACTC	0.413																																						uc002tgc.2		NA																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(1240-1242)GAA>AAA		budding uninhibited by benzimidazoles 1							92.0	95.0	94.0					2																	111417591		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111417591C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1240G>A	2.37:g.111417591C>T	ENSP00000302530:p.Glu414Lys					BUB1_uc010yxh.1_Missense_Mutation_p.E394K|BUB1_uc010fkb.2_Missense_Mutation_p.E414K	p.E414K	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	11	1352	-		Ovarian(717;0.0822)	414					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1240G>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543807	0.45280	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.32515	2.17;1.45;2.45	6.07	5.18	0.71444	.	0.737275	0.13909	N	0.354383	T	0.27134	0.0665	L	0.51422	1.61	0.09310	N	1	P;B;B	0.38078	0.617;0.346;0.346	B;B;B	0.33960	0.173;0.077;0.052	T	0.10636	-1.0621	10	0.17369	T	0.5	-8.2243	13.2248	0.59909	0.0:0.8407:0.1593:0.0	.	394;414;414	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	K	394;414;414;414	ENSP00000441013:E394K;ENSP00000386701:E414K;ENSP00000302530:E414K	ENSP00000302530:E414K	E	-	1	0	BUB1	111134064	0.787000	0.28750	0.117000	0.21633	0.955000	0.61496	2.646000	0.46630	1.538000	0.49270	0.655000	0.94253	GAA		0.413	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		5	21	0	0	0	0	5	21				
DPP10	57628	broad.mit.edu	37	2	116497460	116497460	+	Silent	SNP	G	G	T	rs146251151		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:116497460G>T	ENST00000410059.1	+	9	1323	c.843G>T	c.(841-843)ccG>ccT	p.P281P	DPP10_ENST00000393147.2_Silent_p.P285P|DPP10_ENST00000310323.8_Silent_p.P274P|DPP10_ENST00000409163.1_Silent_p.P231P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	281						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAGTATCCGTATCCTAAGG	0.423																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(841-843)CCG>CCT		dipeptidyl peptidase 10 isoform long							212.0	190.0	198.0					2																	116497460		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116497460G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.843G>T	2.37:g.116497460G>T						DPP10_uc002tlb.1_Silent_p.P231P|DPP10_uc002tlc.1_Silent_p.P277P|DPP10_uc002tle.2_Silent_p.P285P|DPP10_uc002tlf.1_Silent_p.P274P	p.P281P	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			9	1300	+			281			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.843G>T	CCDS46400.1																																																																																				0.423	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		12	47	1	0	7.04e-09	1.55e-08	12	47				
INHBB	3625	broad.mit.edu	37	2	121107420	121107420	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:121107420C>A	ENST00000295228.3	+	2	1240	c.1194C>A	c.(1192-1194)aaC>aaA	p.N398K		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	398					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ACGTGCCCAACATGATTGTGG	0.632																																						uc002tmn.2		NA																	0				pancreas(2)|skin(1)	3						c.(1192-1194)AAC>AAA		inhibin beta B subunit preproprotein							23.0	23.0	23.0					2																	121107420		2193	4268	6461	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121107420C>A		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.1194C>A	2.37:g.121107420C>A	ENSP00000295228:p.Asn398Lys						p.N398K	NM_002193	NP_002184	P09529	INHBB_HUMAN			2	1240	+		Prostate(154;0.122)	398					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.1194C>A	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829846	0.50845	.	.	ENSG00000163083	ENST00000295228	D	0.86366	-2.11	4.47	2.49	0.30216	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	M	0.73372	2.23	0.45899	D	0.998749	D	0.89917	1.0	D	0.91635	0.999	D	0.89701	0.3905	10	0.72032	D	0.01	-19.5281	7.1703	0.25715	0.0:0.7136:0.0:0.2864	.	398	P09529	INHBB_HUMAN	K	398	ENSP00000295228:N398K	ENSP00000295228:N398K	N	+	3	2	INHBB	120823890	0.999000	0.42202	1.000000	0.80357	0.893000	0.52053	0.640000	0.24705	1.090000	0.41315	0.462000	0.41574	AAC		0.632	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			3	19	1	0	2.56e-06	5.25e-06	3	19				
LRP1B	53353	broad.mit.edu	37	2	141299381	141299381	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:141299381C>T	ENST00000389484.3	-	44	8325	c.7354G>A	c.(7354-7356)Gga>Aga	p.G2452R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2452					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTATGATTCCCATTGGCTGA	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7354-7356)GGA>AGA		low density lipoprotein-related protein 1B							163.0	152.0	156.0					2																	141299381		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299381C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7354G>A	2.37:g.141299381C>T	ENSP00000374135:p.Gly2452Arg	TSP Lung(27;0.18)					p.G2452R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	44	8326	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2452			Extracellular (Potential).|LDL-receptor class B 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7354G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	32	5.180387	0.94846	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92495	-3.05	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.96753	0.8940	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96372	0.9274	10	0.45353	T	0.12	.	19.2763	0.94032	0.0:1.0:0.0:0.0	.	2452	Q9NZR2	LRP1B_HUMAN	R	2452;2390	ENSP00000374135:G2452R	ENSP00000374135:G2452R	G	-	1	0	LRP1B	141015851	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.771000	0.85420	2.548000	0.85928	0.484000	0.47621	GGA		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	57	0	0	0	0	15	57				
KCNJ3	3760	broad.mit.edu	37	2	155555719	155555719	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:155555719C>A	ENST00000295101.2	+	1	909	c.432C>A	c.(430-432)atC>atA	p.I144I	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Silent_p.I144I	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	144					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGCCACCATCGGCTATGGCT	0.557																																						uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(430-432)ATC>ATA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						104.0	77.0	86.0					2																	155555719		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555719C>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.432C>A	2.37:g.155555719C>A						KCNJ3_uc010zce.1_Silent_p.I144I	p.I144I	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	627	+			144			Selectivity filter (By similarity).		B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.432C>A	CCDS2200.1																																																																																				0.557	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		8	35	1	0	1.13e-05	2.25e-05	8	35				
ACVR1C	130399	broad.mit.edu	37	2	158406691	158406691	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:158406691A>G	ENST00000243349.8	-	4	1118	c.758T>C	c.(757-759)aTt>aCt	p.I253T	ACVR1C_ENST00000335450.7_Missense_Mutation_p.I173T|ACVR1C_ENST00000409680.3_Missense_Mutation_p.I203T|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GTCAGCAGCAATGAAACCAAG	0.388																																						uc002tzk.3		NA																	0				lung(3)|ovary(2)|skin(2)	7						c.(757-759)ATT>ACT		activin A receptor, type IC isoform 1							110.0	108.0	109.0					2																	158406691		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158406691A>G	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.758T>C	2.37:g.158406691A>G	ENSP00000243349:p.Ile253Thr					ACVR1C_uc002tzl.3_Missense_Mutation_p.I173T|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.I203T	p.I253T	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			4	1001	-			253			Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000243349.8	37	c.758T>C	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.150322	0.57151	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000335450	D;D;D	0.93953	-3.32;-3.32;-3.32	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.130117	0.35124	N	0.003436	D	0.97939	0.9322	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.997;0.999	D	0.99187	1.0869	10	0.72032	D	0.01	.	16.0545	0.80788	1.0:0.0:0.0:0.0	.	173;253	Q8NER5-3;Q8NER5	.;ACV1C_HUMAN	T	253;203;173	ENSP00000243349:I253T;ENSP00000387168:I203T;ENSP00000335178:I173T	ENSP00000243349:I253T	I	-	2	0	ACVR1C	158114937	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	9.339000	0.96797	2.272000	0.75746	0.455000	0.32223	ATT		0.388	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		18	34	0	0	0	0	18	34				
SLC38A11	151258	broad.mit.edu	37	2	165768172	165768172	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:165768172G>T	ENST00000409149.3	-	9	1060	c.769C>A	c.(769-771)Cct>Act	p.P257T	SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000409058.1_Missense_Mutation_p.P288T|SLC38A11_ENST00000303735.4_Missense_Mutation_p.P235T|SLC38A11_ENST00000409662.1_Missense_Mutation_p.P257T	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	257					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CATTCCATAGGGTATGTCAAA	0.378																																						uc002ucv.1		NA																	0				ovary(1)	1						c.(769-771)CCT>ACT		solute carrier family 38, member 11							99.0	95.0	97.0					2																	165768172		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165768172G>T		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.769C>A	2.37:g.165768172G>T	ENSP00000386272:p.Pro257Thr					SLC38A11_uc002ucu.1_Missense_Mutation_p.P235T|SLC38A11_uc002ucw.1_Missense_Mutation_p.P257T	p.P257T	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN			11	1306	-			257			Helical; (Potential).		B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.769C>A	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375077	0.82682	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662;ENST00000424914	T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.03969	-1.0988	10	0.87932	D	0	-14.4458	20.1323	0.98003	0.0:0.0:1.0:0.0	.	257;235	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	T	235;257;288;257;78	ENSP00000306178:P235T;ENSP00000386272:P257T;ENSP00000387345:P288T;ENSP00000386774:P257T;ENSP00000401448:P78T	ENSP00000306178:P235T	P	-	1	0	SLC38A11	165476418	1.000000	0.71417	0.981000	0.43875	0.440000	0.31957	9.365000	0.97139	2.857000	0.98124	0.650000	0.86243	CCT		0.378	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		4	20	1	0	0.00024832	0.000464718	4	20				
TTN	7273	broad.mit.edu	37	2	179613245	179613245	+	Intron	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:179613245G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P4628T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGAGCTGGATCTCCTATA	0.378																																						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13882-13884)CCA>ACA		titin isoform novex-3							98.0	107.0	104.0					2																	179613245		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613245G>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.10360+4605C>A	2.37:g.179613245G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.P4628T	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14106	-			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.13882C>A		.	.	.	.	.	.	.	.	.	.	G	0.836	-0.743428	0.03088	.	.	ENSG00000155657	ENST00000360870	T	0.55234	0.53	5.9	1.63	0.23807	.	.	.	.	.	T	0.27524	0.0676	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.17806	-1.0357	9	0.16896	T	0.51	.	2.2187	0.03967	0.1593:0.2037:0.4416:0.1954	.	4628	Q8WZ42-6	.	T	4628	ENSP00000354117:P4628T	ENSP00000354117:P4628T	P	-	1	0	TTN	179321490	0.000000	0.05858	0.139000	0.22197	0.407000	0.30961	-0.373000	0.07494	0.382000	0.24878	0.650000	0.86243	CCA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	71	1	0	8.05e-18	1.93e-17	21	71				
TTN	7273	broad.mit.edu	37	2	179633515	179633515	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:179633515C>T	ENST00000591111.1	-	38	9272	c.9048G>A	c.(9046-9048)atG>atA	p.M3016I	TTN_ENST00000342992.6_Missense_Mutation_p.M3016I|TTN_ENST00000589042.1_Missense_Mutation_p.M3016I|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M3016I|TTN_ENST00000359218.5_Missense_Mutation_p.M2970I|TTN_ENST00000342175.6_Missense_Mutation_p.M2970I|TTN_ENST00000460472.2_Missense_Mutation_p.M2970I			Q8WZ42	TITIN_HUMAN	titin	13348	Ig-like 17.				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)			TTTTGGTTCTCATCTGGCACT	0.418																																						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.(9046-9048)ATG>ATA		titin isoform N2-A							180.0	155.0	163.0					2																	179633515		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633515C>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.9048G>A	2.37:g.179633515C>T	ENSP00000465570:p.Met3016Ile					TTN_uc010zfh.1_Missense_Mutation_p.M2970I|TTN_uc010zfi.1_Missense_Mutation_p.M2970I|TTN_uc010zfj.1_Missense_Mutation_p.M2970I|TTN_uc002unb.2_Missense_Mutation_p.M3016I	p.M3016I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		38	9272	-			3016					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.9048G>A		.	.	.	.	.	.	.	.	.	.	C	11.85	1.761589	0.31228	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.56	3.72	0.42706	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35941	0.0949	N	0.03115	-0.41	0.21579	N	0.99963	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.002	T	0.24440	-1.0160	9	0.87932	D	0	.	5.0853	0.14678	0.0:0.4742:0.2998:0.226	.	2970;2970;2970;3016;3016	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	3016;2970;2970;2970;2970;3016	ENSP00000343764:M3016I;ENSP00000434586:M2970I;ENSP00000340554:M2970I;ENSP00000352154:M2970I;ENSP00000354117:M3016I	ENSP00000340554:M2970I	M	-	3	0	TTN	179341760	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.277000	0.33167	0.789000	0.33779	0.563000	0.77884	ATG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	35	0	0	0	0	15	35				
COL5A2	1290	broad.mit.edu	37	2	189907465	189907465	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:189907465G>A	ENST00000374866.3	-	49	3780	c.3506C>T	c.(3505-3507)cCt>cTt	p.P1169L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1169					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAATGGTCCAGGGATTCCAGC	0.373																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(3505-3507)CCT>CTT		alpha 2 type V collagen preproprotein							92.0	80.0	84.0					2																	189907465		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189907465G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3506C>T	2.37:g.189907465G>A	ENSP00000364000:p.Pro1169Leu					COL5A2_uc010frx.2_Missense_Mutation_p.P745L	p.P1169L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		49	3781	-			1169					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3506C>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641806	0.29157	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.98684	-5.07	5.76	5.76	0.90799	.	0.000000	0.51477	D	0.000088	D	0.98002	0.9342	M	0.87971	2.92	0.52501	D	0.99995	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	D	0.95407	0.8495	10	0.42905	T	0.14	.	13.5317	0.61625	0.0713:0.0:0.9287:0.0	.	809;1169	Q5PR22;P05997	.;CO5A2_HUMAN	L	1169;809	ENSP00000364000:P1169L	ENSP00000364000:P1169L	P	-	2	0	COL5A2	189615710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.742000	0.47434	2.871000	0.98454	0.655000	0.94253	CCT		0.373	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		4	10	0	0	0	0	4	10				
STAT4	6775	broad.mit.edu	37	2	191940969	191940969	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:191940969G>T	ENST00000392320.2	-	4	670	c.356C>A	c.(355-357)gCc>gAc	p.A119D	STAT4_ENST00000358470.4_Missense_Mutation_p.A119D	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	119					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGGCATGTTGGCTGCAGCCAA	0.358																																						uc002usm.1		NA																	0				breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(355-357)GCC>GAC		signal transducer and activator of transcription							101.0	102.0	102.0					2																	191940969		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191940969G>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.356C>A	2.37:g.191940969G>T	ENSP00000376134:p.Ala119Asp					STAT4_uc002usn.1_Missense_Mutation_p.A119D|STAT4_uc002uso.2_Missense_Mutation_p.A119D|STAT4_uc002usp.3_Missense_Mutation_p.A119D	p.A119D	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		4	610	-			119					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.356C>A	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428932	0.83667	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064	T;T;T	0.57107	0.42;0.42;0.42	5.22	5.22	0.72569	STAT transcription factor, protein interaction (4);	0.116593	0.56097	D	0.000027	T	0.76198	0.3954	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.969;0.969	T	0.80362	-0.1414	10	0.87932	D	0	-12.2789	17.9217	0.88967	0.0:0.0:1.0:0.0	.	119;119;119	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	D	119;119;92	ENSP00000351255:A119D;ENSP00000376134:A119D;ENSP00000403238:A92D	ENSP00000351255:A119D	A	-	2	0	STAT4	191649214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.563000	0.73964	2.595000	0.87683	0.650000	0.86243	GCC		0.358	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		11	59	1	0	1.09e-07	2.32e-07	11	59				
STK17B	9262	broad.mit.edu	37	2	197021180	197021180	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:197021180G>C	ENST00000263955.4	-	3	604	c.318C>G	c.(316-318)atC>atG	p.I106M	RP11-347P5.1_ENST00000606818.1_RNA|STK17B_ENST00000409228.1_Missense_Mutation_p.I106M	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATATCAAAATGATTTCACTTG	0.313																																						uc002utk.2		NA																	0				lung(2)	2						c.(316-318)ATC>ATG		serine/threonine kinase 17B							51.0	47.0	48.0					2																	197021180		2203	4299	6502	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197021180G>C	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.318C>G	2.37:g.197021180G>C	ENSP00000263955:p.Ile106Met					STK17B_uc010fsh.2_Missense_Mutation_p.I106M	p.I106M	NM_004226	NP_004217	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		3	642	-			106			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.318C>G	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	4.792	0.147229	0.09134	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.67865	-0.29;-0.29	5.24	1.3	0.21679	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.123452	0.35805	N	0.002966	T	0.48750	0.1517	L	0.41961	1.31	0.40302	D	0.978629	B	0.12013	0.005	B	0.26202	0.067	T	0.17228	-1.0376	10	0.10111	T	0.7	.	2.8429	0.05535	0.1371:0.1234:0.485:0.2546	.	106	O94768	ST17B_HUMAN	M	106	ENSP00000263955:I106M;ENSP00000386853:I106M	ENSP00000263955:I106M	I	-	3	3	STK17B	196729425	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.036000	0.30228	0.061000	0.16311	0.650000	0.86243	ATC		0.313	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			6	11	0	0	0	0	6	11				
SMARCAL1	50485	broad.mit.edu	37	2	217279531	217279531	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:217279531G>A	ENST00000357276.4	+	3	434	c.104G>A	c.(103-105)aGg>aAg	p.R35K	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R35K	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	35					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)		CAGCATCAGAGGACTAGCTCG	0.522									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(103-105)AGG>AAG		SWI/SNF-related matrix-associated							115.0	129.0	124.0					2																	217279531		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.chr2:217279531G>A	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.104G>A	2.37:g.217279531G>A	ENSP00000349823:p.Arg35Lys					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R35K|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R35K	p.R35K	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	434	+		Renal(323;0.0458)	35					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.104G>A	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	3.744	-0.052916	0.07362	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.67	0.652	0.17823	.	1.269650	0.04976	N	0.464760	T	0.09379	0.0231	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30387	-0.9980	10	0.07813	T	0.8	-0.1381	8.2485	0.31704	0.445:0.0:0.555:0.0	.	35	Q9NZC9	SMAL1_HUMAN	K	35	ENSP00000405077:R35K;ENSP00000349823:R35K;ENSP00000398969:R35K;ENSP00000350940:R35K;ENSP00000402967:R35K	ENSP00000349823:R35K	R	+	2	0	SMARCAL1	216987776	0.002000	0.14202	0.000000	0.03702	0.157000	0.22087	0.510000	0.22723	-0.007000	0.14345	-0.244000	0.11960	AGG		0.522	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			30	94	0	0	0	0	30	94				
COL4A4	1286	broad.mit.edu	37	2	227924220	227924220	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:227924220G>T	ENST00000396625.3	-	28	2491	c.2284C>A	c.(2284-2286)Cct>Act	p.P762T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P762T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	762	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAAATGCAGGGTCTCCCGGG	0.612																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2284-2286)CCT>ACT		alpha 4 type IV collagen precursor							84.0	90.0	88.0					2																	227924220		1835	4071	5906	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924220G>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2284C>A	2.37:g.227924220G>T	ENSP00000379866:p.Pro762Thr						p.P762T	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2938	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	762			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2284C>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538530	0.45176	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96651	-4.08;-4.08	5.99	-2.3	0.06785	.	.	.	.	.	D	0.91991	0.7463	L	0.58428	1.81	0.09310	N	0.999995	B	0.15473	0.013	B	0.08055	0.003	T	0.79600	-0.1736	9	0.12430	T	0.62	.	5.507	0.16860	0.4102:0.0:0.344:0.2458	.	762	P53420	CO4A4_HUMAN	T	762	ENSP00000379866:P762T;ENSP00000328553:P762T	ENSP00000328553:P762T	P	-	1	0	COL4A4	227632464	0.991000	0.36638	0.860000	0.33809	0.991000	0.79684	0.143000	0.16115	-0.338000	0.08413	-0.140000	0.14226	CCT		0.612	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		24	70	1	0	2.89e-11	6.59e-11	24	70				
PLCB1	23236	broad.mit.edu	37	20	8637904	8637904	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr20:8637904C>A	ENST00000338037.6	+	8	695	c.668C>A	c.(667-669)cCt>cAt	p.P223H	PLCB1_ENST00000378637.2_Missense_Mutation_p.P223H|PLCB1_ENST00000378641.3_Missense_Mutation_p.P223H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	223					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCCCTCGACCTGAAATTGAT	0.393																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(667-669)CCT>CAT		phosphoinositide-specific phospholipase C beta 1							122.0	120.0	120.0					20																	8637904		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8637904C>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.668C>A	20.37:g.8637904C>A	ENSP00000338185:p.Pro223His					PLCB1_uc010zrb.1_Missense_Mutation_p.P122H|PLCB1_uc002wna.2_Missense_Mutation_p.P223H|PLCB1_uc002wnc.1_Missense_Mutation_p.P122H	p.P223H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			8	671	+			223					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.668C>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663504	0.67700	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.50001	0.76;0.76;0.76	5.51	4.56	0.56223	EF-hand-like domain (1);	0.097704	0.64402	D	0.000001	T	0.65249	0.2673	L	0.61387	1.9	0.37319	D	0.909453	B;D	0.76494	0.262;0.999	B;D	0.66716	0.206;0.946	T	0.72991	-0.4123	10	0.56958	D	0.05	.	16.6347	0.85043	0.0:0.8697:0.1303:0.0	.	223;223	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	H	223;223;223;143;143	ENSP00000367908:P223H;ENSP00000338185:P223H;ENSP00000367904:P223H	ENSP00000338185:P223H	P	+	2	0	PLCB1	8585904	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.782000	0.68973	1.432000	0.47375	-0.181000	0.13052	CCT		0.393	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			10	71	1	0	4.69e-08	1.01e-07	10	71				
KRTAP15-1	254950	broad.mit.edu	37	21	31812833	31812833	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr21:31812833C>A	ENST00000334067.3	+	1	237	c.188C>A	c.(187-189)aCa>aAa	p.T63K		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	63						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCTGCCAGACATCCTGCACT	0.512																																						uc002yod.2		NA																	0					0						c.(187-189)ACA>AAA		keratin associated protein 15-1							113.0	107.0	109.0					21																	31812833		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31812833C>A	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.188C>A	21.37:g.31812833C>A	ENSP00000334866:p.Thr63Lys						p.T63K	NM_181623	NP_853654	Q3LI76	KR151_HUMAN			1	188	+			63					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.188C>A	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.265156	0.01433	.	.	ENSG00000186970	ENST00000334067	T	0.03181	4.02	4.58	-3.32	0.04973	.	2.509270	0.01636	N	0.023764	T	0.03827	0.0108	L	0.41710	1.295	0.09310	N	1	B	0.27882	0.192	B	0.31016	0.123	T	0.38478	-0.9659	10	0.52906	T	0.07	14.889	0.5578	0.00674	0.3953:0.2208:0.1294:0.2544	.	63	Q3LI76	KR151_HUMAN	K	63	ENSP00000334866:T63K	ENSP00000334866:T63K	T	+	2	0	KRTAP15-1	30734704	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.047000	0.01408	-0.679000	0.05217	-0.835000	0.03068	ACA		0.512	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			15	59	1	0	7.93e-07	1.66e-06	15	59				
OR11H1	81061	broad.mit.edu	37	22	16449678	16449678	+	Missense_Mutation	SNP	A	A	T	rs564589630		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr22:16449678A>T	ENST00000252835.4	-	1	127	c.127T>A	c.(127-129)Ttc>Atc	p.F43I		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AAGAGTGAGAAGAGGAAGATC	0.423																																						uc011agd.1		NA																	0					0						c.(127-129)TTC>ATC		olfactory receptor, family 11, subfamily H,							20.0	22.0	22.0					22																	16449678		2065	4065	6130	SO:0001583	missense	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449678A>T	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.127T>A	22.37:g.16449678A>T	ENSP00000252835:p.Phe43Ile						p.F43I	NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	127	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	43			Extracellular (Potential).		Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	c.127T>A	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	a	14.09	2.430853	0.43122	.	.	ENSG00000130538	ENST00000252835	T	0.04551	3.6	2.19	2.19	0.27852	.	0.156544	0.29328	N	0.012461	T	0.26231	0.0640	H	0.95260	3.645	0.25581	N	0.986795	D	0.89917	1.0	D	0.72982	0.979	T	0.07947	-1.0746	10	0.87932	D	0	.	8.3461	0.32275	1.0:0.0:0.0:0.0	.	43	Q8NG94	O11H1_HUMAN	I	43	ENSP00000252835:F43I	ENSP00000252835:F43I	F	-	1	0	OR11H1	14829678	0.000000	0.05858	0.960000	0.40013	0.291000	0.27294	0.300000	0.19156	0.966000	0.38159	0.302000	0.19851	TTC		0.423	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		8	146	0	0	0	0	8	146				
PPM1F	9647	broad.mit.edu	37	22	22285593	22285593	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr22:22285593C>A	ENST00000263212.5	-	6	923	c.818G>T	c.(817-819)gGg>gTg	p.G273V	PPM1F_ENST00000538191.1_Missense_Mutation_p.G169V|PPM1F_ENST00000407142.1_Missense_Mutation_p.G105V|PPM1F_ENST00000397495.4_Missense_Mutation_p.G273V	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	273					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CTGGGAATCCCCGAGCCAGGC	0.632																																						uc002zvp.1		NA																	0				ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5						c.(817-819)GGG>GTG		protein phosphatase 1F							113.0	90.0	98.0					22																	22285593		2203	4300	6503	SO:0001583	missense	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22285593C>A	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.818G>T	22.37:g.22285593C>A	ENSP00000263212:p.Gly273Val					PPM1F_uc011aik.1_Missense_Mutation_p.G169V|PPM1F_uc002zvq.2_Missense_Mutation_p.G273V	p.G273V	NM_014634	NP_055449	P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	6	932	-	Colorectal(54;0.105)		273					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.818G>T	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	33	5.290795	0.95546	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.84	4.84	0.62591	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	D	0.96849	0.8971	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98183	1.0458	10	0.87932	D	0	-25.1315	18.5176	0.90941	0.0:1.0:0.0:0.0	.	169;273;273	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	V	273;105;105;169;273	ENSP00000263212:G273V;ENSP00000384930:G105V;ENSP00000439915:G169V;ENSP00000380632:G273V	ENSP00000263212:G273V	G	-	2	0	PPM1F	20615593	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.567000	0.82357	2.700000	0.92200	0.561000	0.74099	GGG		0.632	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		21	52	1	0	1.98e-07	4.23e-07	21	52				
CNTN6	27255	broad.mit.edu	37	3	1269678	1269678	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:1269678G>T	ENST00000446702.2	+	4	985		c.e4+1		CNTN6_ENST00000350110.2_Splice_Site|CNTN6_ENST00000539053.1_Splice_Site			Q9UQ52	CNTN6_HUMAN	contactin 6						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAATTTGCATGTGAGTTTGGG	0.383																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.e4+1		contactin 6 precursor							115.0	112.0	113.0					3																	1269678		2203	4300	6503	SO:0001630	splice_region_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1269678G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.358+1G>T	3.37:g.1269678G>T						CNTN6_uc010hbo.2_Splice_Site_p.Y115_splice|CNTN6_uc011asj.1_Splice_Site_p.Y48_splice|CNTN6_uc003bpa.2_Splice_Site_p.Y120_splice	p.Y120_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	4	625	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)						Q2KHM2	Splice_Site	SNP	ENST00000446702.2	37	c.358_splice	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622265	0.87460	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.483	0.95017	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTN6	1244678	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.050000	0.93843	2.668000	0.90789	0.557000	0.71058	.		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	Intron	28	95	1	0	7.63e-27	1.88e-26	28	95				
LRRN1	57633	broad.mit.edu	37	3	3888298	3888298	+	Missense_Mutation	SNP	G	G	A	rs75344244		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:3888298G>A	ENST00000319331.3	+	2	2734	c.1973G>A	c.(1972-1974)aGa>aAa	p.R658K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	658						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGATTTAAGAGAAAAAACTAC	0.423																																						uc003bpt.3		NA																	0				central_nervous_system(1)	1						c.(1972-1974)AGA>AAA		leucine rich repeat neuronal 1 precursor							58.0	60.0	59.0					3																	3888298		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3888298G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1973G>A	3.37:g.3888298G>A	ENSP00000314901:p.Arg658Lys					SUMF1_uc003bps.1_Intron	p.R658K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2734	+			658			Cytoplasmic (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1973G>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624488	0.46840	.	.	ENSG00000175928	ENST00000319331	T	0.41065	1.01	5.41	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	L	0.57536	1.79	0.44508	D	0.997455	P	0.40970	0.734	B	0.39339	0.297	T	0.32107	-0.9919	10	0.02654	T	1	.	14.6521	0.68805	0.0703:0.0:0.9297:0.0	.	658	Q6UXK5	LRRN1_HUMAN	K	658	ENSP00000314901:R658K	ENSP00000314901:R658K	R	+	2	0	LRRN1	3863298	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.513000	0.81739	1.409000	0.46915	0.650000	0.86243	AGA		0.423	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		19	60	0	0	0	0	19	60				
ARPC4	10093	broad.mit.edu	37	3	9841894	9841894	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:9841894C>T	ENST00000397261.3	+	3	712	c.148C>T	c.(148-150)Cct>Tct	p.P50S	ARPC4_ENST00000498623.2_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P50S|ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000433034.1_Missense_Mutation_p.P69S	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	50					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					CCTGTTACAACCTGTGACCAT	0.478																																						uc003bsz.1		NA																	0					0						c.(148-150)CCT>TCT		actin related protein 2/3 complex subunit 4							85.0	88.0	87.0					3																	9841894		2051	4213	6264	SO:0001583	missense	10093				actin filament polymerization|actin nucleation	Arp2/3 protein complex|cell projection|cytoplasm	actin binding	g.chr3:9841894C>T	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"""Actin related protein 2/3 complex subunits"""	707	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"""	604226	"""actin related protein 2/3 complex, subunit 4 (20 kD)"""			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.148C>T	3.37:g.9841894C>T	ENSP00000380431:p.Pro50Ser					ARPC4_uc003bta.1_5'UTR|ARPC4_uc003btb.1_5'UTR|ARPC4_uc003btc.1_5'UTR|TTLL3_uc003btd.3_5'UTR	p.P50S	NM_005718	NP_005709	P59998	ARPC4_HUMAN			3	727	+	Medulloblastoma(99;0.227)		50					C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Missense_Mutation	SNP	ENST00000397261.3	37	c.148C>T	CCDS43047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.331851|5.331851	0.95733|0.95733	.|.	.|.	ENSG00000241553;ENSG00000241553;ENSG00000250151|ENSG00000250151	ENST00000397261;ENST00000433034;ENST00000397256|ENST00000453882	T|.	0.08282|.	3.11|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|.	.|.	.|.	.|.	D|D	0.84092|0.84092	0.5396|0.5396	M|M	0.87758|0.87758	2.905|2.905	0.44432|0.44432	D|D	0.997352|0.997352	D|.	0.55172|.	0.97|.	P|.	0.56434|.	0.798|.	D|D	0.85593|0.85593	0.1247|0.1247	9|5	0.42905|.	T|.	0.14|.	-5.052|-5.052	19.6028|19.6028	0.95570|0.95570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	50|.	P59998|.	ARPC4_HUMAN|.	S|I	50;69;50|49	ENSP00000380427:P50S|.	ENSP00000380431:P50S|.	P|T	+|+	1|2	0|0	ARPC4-TTLL3;ARPC4|ARPC4-TTLL3	9816894|9816894	1.000000|1.000000	0.71417|0.71417	0.872000|0.872000	0.34217|0.34217	0.993000|0.993000	0.82548|0.82548	7.582000|7.582000	0.82546|0.82546	2.625000|2.625000	0.88918|0.88918	0.650000|0.650000	0.86243|0.86243	CCT|ACC		0.478	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2	NM_001024959		11	44	0	0	0	0	11	44				
STAC	6769	broad.mit.edu	37	3	36570191	36570191	+	Silent	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:36570191A>T	ENST00000273183.3	+	9	1224	c.924A>T	c.(922-924)ccA>ccT	p.P308P	STAC_ENST00000457375.2_Silent_p.P247P	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	308	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ATTTTAGGCCAGGAGACATAA	0.294																																						uc003cgh.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(922-924)CCA>CCT		SH3 and cysteine rich domain							37.0	39.0	38.0					3																	36570191		2194	4297	6491	SO:0001819	synonymous_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36570191A>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.924A>T	3.37:g.36570191A>T						STAC_uc011aya.1_Silent_p.P247P	p.P308P	NM_003149	NP_003140	Q99469	STAC_HUMAN			9	963	+			308			SH3.		B2R8S8	Silent	SNP	ENST00000273183.3	37	c.924A>T	CCDS2662.1																																																																																				0.294	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		5	14	0	0	0	0	5	14				
XIRP1	165904	broad.mit.edu	37	3	39229057	39229057	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:39229057G>T	ENST00000340369.3	-	2	2108	c.1880C>A	c.(1879-1881)aCc>aAc	p.T627N	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.T627N	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	627	Interaction with CTNNB1. {ECO:0000250}.				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)		GAACATCCAGGTGCAGGACTG	0.597																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(1879-1881)ACC>AAC		xin actin-binding repeat containing 1							73.0	67.0	69.0					3																	39229057		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39229057G>T	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.1880C>A	3.37:g.39229057G>T	ENSP00000343140:p.Thr627Asn					XIRP1_uc003cji.2_Missense_Mutation_p.T627N|XIRP1_uc003cjj.2_Intron	p.T627N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2101	-			627			Interaction with CTNNB1 (By similarity).|Xin 14.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.1880C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984496	0.74474	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.15834	2.39;2.62	4.56	4.56	0.56223	.	0.000000	0.85682	U	0.000000	T	0.43567	0.1253	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.46803	-0.9165	10	0.87932	D	0	.	15.2038	0.73162	0.0:0.0:1.0:0.0	.	627;627	Q702N8;Q702N8-2	XIRP1_HUMAN;.	N	627	ENSP00000379550:T627N;ENSP00000343140:T627N	ENSP00000343140:T627N	T	-	2	0	XIRP1	39204061	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.270000	0.75569	0.462000	0.41574	ACC		0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		24	49	1	0	2.89e-11	6.59e-11	24	49				
ULK4	54986	broad.mit.edu	37	3	41497085	41497085	+	Splice_Site	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:41497085G>A	ENST00000301831.4	-	34	3857	c.3395C>T	c.(3394-3396)gCc>gTc	p.A1132V		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1132					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGACTTCTGGGCCTGGAACAG	0.542																																						uc003ckv.3		NA																	0					0						c.(3394-3396)GCC>GTC		unc-51-like kinase 4							67.0	70.0	69.0					3																	41497085		1931	4142	6073	SO:0001630	splice_region_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41497085G>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3394-1C>T	3.37:g.41497085G>A							p.A1132V	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	34	3596	-			1132					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.3395C>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529562	0.27387	.	.	ENSG00000168038	ENST00000301831	T	0.58940	0.3	5.37	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	2.310920	0.03489	N	0.216246	T	0.48466	0.1501	N	0.14661	0.345	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.01444	-1.1353	10	0.41790	T	0.15	.	14.4947	0.67678	0.0718:0.0:0.9282:0.0	.	1132	Q96C45	ULK4_HUMAN	V	1132	ENSP00000301831:A1132V	ENSP00000301831:A1132V	A	-	2	0	ULK4	41472089	1.000000	0.71417	0.982000	0.44146	0.613000	0.37349	4.308000	0.59129	1.245000	0.43885	0.655000	0.94253	GCC		0.542	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	Missense_Mutation	20	30	0	0	0	0	20	30				
ZNF502	91392	broad.mit.edu	37	3	44762622	44762622	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:44762622G>A	ENST00000296091.4	+	4	569	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ZNF502_ENST00000436624.2_Missense_Mutation_p.E105K|ZNF502_ENST00000449836.1_Missense_Mutation_p.E105K	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATATAATTTTGAGAAAAGCTT	0.398																																						uc011baa.1		NA																	0					0						c.(313-315)GAG>AAG		zinc finger protein 502							60.0	61.0	61.0					3																	44762622		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762622G>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.313G>A	3.37:g.44762622G>A	ENSP00000296091:p.Glu105Lys					ZNF502_uc003cns.2_Missense_Mutation_p.E105K|ZNF502_uc011bab.1_Missense_Mutation_p.E105K|ZNF502_uc003cnt.2_Missense_Mutation_p.E105K	p.E105K	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	568	+			105						Missense_Mutation	SNP	ENST00000296091.4	37	c.313G>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	G	5.780	0.328269	0.10956	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.49720	3.34;3.34;3.34;0.77	4.16	2.32	0.28847	.	.	.	.	.	T	0.22859	0.0552	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20974	-1.0259	9	0.15066	T	0.55	-2.1955	6.2828	0.21017	0.3156:0.0:0.6844:0.0	.	105	Q8TBZ5	ZN502_HUMAN	K	105	ENSP00000397390:E105K;ENSP00000296091:E105K;ENSP00000406469:E105K;ENSP00000401717:E105K	ENSP00000296091:E105K	E	+	1	0	ZNF502	44737626	0.998000	0.40836	0.324000	0.25361	0.270000	0.26580	0.585000	0.23879	0.987000	0.38709	-0.136000	0.14681	GAG		0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		9	41	0	0	0	0	9	41				
RTP3	83597	broad.mit.edu	37	3	46542079	46542079	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:46542079G>A	ENST00000296142.3	+	2	961	c.389G>A	c.(388-390)aGa>aAa	p.R130K		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	130					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TATAGAGGAAGATTTCAGTTG	0.463																																						uc003cps.1		NA																	0				ovary(2)	2						c.(388-390)AGA>AAA		transmembrane protein 7							97.0	100.0	99.0					3																	46542079		2203	4300	6503	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542079G>A	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.389G>A	3.37:g.46542079G>A	ENSP00000296142:p.Arg130Lys						p.R130K	NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	457	+			130			Cytoplasmic (Potential).		A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.389G>A	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	G	9.856	1.195102	0.22037	.	.	ENSG00000163825	ENST00000296142	T	0.20881	2.04	3.45	0.447	0.16608	.	2.357370	0.01560	N	0.020069	T	0.16727	0.0402	L	0.34521	1.04	0.09310	N	1	B	0.17268	0.021	B	0.22152	0.038	T	0.16958	-1.0385	10	0.30854	T	0.27	-0.7039	3.2517	0.06816	0.1037:0.1713:0.5486:0.1763	.	130	Q9BQQ7	RTP3_HUMAN	K	130	ENSP00000296142:R130K	ENSP00000296142:R130K	R	+	2	0	RTP3	46517083	0.000000	0.05858	0.007000	0.13788	0.237000	0.25408	-0.043000	0.12043	-0.030000	0.13804	0.462000	0.41574	AGA		0.463	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		13	93	0	0	0	0	13	93				
CACNA1D	776	broad.mit.edu	37	3	53796040	53796040	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:53796040G>T	ENST00000350061.5	+	30	4313	c.3802G>T	c.(3802-3804)Gcc>Tcc	p.A1268S	CACNA1D_ENST00000540742.1_Missense_Mutation_p.A175S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A1268S|CACNA1D_ENST00000288139.4_Missense_Mutation_p.A1288S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1268					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTTAGTGACGCCTGGAACAC	0.562																																						uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(3802-3804)GCC>TCC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						171.0	134.0	146.0					3																	53796040		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53796040G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3802G>T	3.37:g.53796040G>T	ENSP00000288133:p.Ala1268Ser					CACNA1D_uc003dgu.3_Missense_Mutation_p.A1288S|CACNA1D_uc003dgy.3_Missense_Mutation_p.A1268S|CACNA1D_uc003dgw.3_Intron|CACNA1D_uc003dgx.1_Missense_Mutation_p.A416S	p.A1268S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	30	3965	+			1268			IV.|Helical; Name=S3 of repeat IV; (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3802G>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546010	0.65198	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000540742	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	L	0.42632	1.34	0.80722	D	1	D;B;D;D	0.89917	1.0;0.063;0.979;0.999	D;B;P;D	0.79784	0.993;0.045;0.908;0.984	D	0.98839	1.0754	10	0.46703	T	0.11	.	19.96	0.97242	0.0:0.0:1.0:0.0	.	1268;175;1268;1288	B0FYA3;F5H313;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	S	1268;1288;1268;175	ENSP00000288133:A1268S;ENSP00000288139:A1288S;ENSP00000409174:A1268S;ENSP00000438229:A175S	ENSP00000288139:A1288S	A	+	1	0	CACNA1D	53771080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.473000	0.66774	2.793000	0.96121	0.561000	0.74099	GCC		0.562	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		20	54	1	0	3.62e-10	8.19e-10	20	54				
CADM2	253559	broad.mit.edu	37	3	85932571	85932571	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:85932571C>G	ENST00000407528.2	+	3	404	c.342C>G	c.(340-342)tcC>tcG	p.S114S	CADM2_ENST00000383699.3_Silent_p.S123S|CADM2_ENST00000405615.2_Silent_p.S116S	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	114	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCAAAACTTCCAAGGCATATC	0.398																																						uc003dqj.2		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(340-342)TCC>TCG		immunoglobulin superfamily, member 4D							95.0	79.0	85.0					3																	85932571		2203	4300	6503	SO:0001819	synonymous_variant	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85932571C>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.342C>G	3.37:g.85932571C>G						CADM2_uc003dqk.2_Silent_p.S123S|CADM2_uc003dql.2_Silent_p.S116S	p.S114S	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	3	968	+		Lung NSC(201;0.0148)	114			Ig-like V-type.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	37	c.342C>G	CCDS54614.1																																																																																				0.398	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		3	17	0	0	0	0	3	17				
OR5AC2	81050	broad.mit.edu	37	3	97806802	97806802	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:97806802G>T	ENST00000358642.2	+	1	786	c.786G>T	c.(784-786)gtG>gtT	p.V262V		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	262					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(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCATGTATGTGCGTCCTGCAT	0.428																																						uc011bgs.1		NA																	0				skin(1)	1						c.(784-786)GTG>GTT		olfactory receptor, family 5, subfamily AC,							104.0	93.0	97.0					3																	97806802		2203	4300	6503	SO:0001819	synonymous_variant	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806802G>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.786G>T	3.37:g.97806802G>T							p.V262V	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	786	+			262			Extracellular (Potential).			Silent	SNP	ENST00000358642.2	37	c.786G>T	CCDS33796.1																																																																																				0.428	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			15	57	1	0	2.23e-06	4.61e-06	15	57				
GPR128	84873	broad.mit.edu	37	3	100365491	100365491	+	Missense_Mutation	SNP	G	G	T	rs143826267	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:100365491G>T	ENST00000273352.3	+	10	1457	c.1189G>T	c.(1189-1191)Ggc>Tgc	p.G397C	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Missense_Mutation_p.G102C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	397	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G397C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGACACATATGGCTGTCAAAA	0.393																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	1	Substitution - Missense(1)		autonomic_ganglia(1)	ovary(3)|skin(1)	4						c.(1189-1191)GGC>TGC		G protein-coupled receptor 128 precursor							112.0	112.0	112.0					3																	100365491		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365491G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1189G>T	3.37:g.100365491G>T	ENSP00000273352:p.Gly397Cys					GPR128_uc011bhc.1_Missense_Mutation_p.G98C	p.G397C	NM_032787	NP_116176	Q96K78	GP128_HUMAN			10	1457	+			397			GPS.|Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1189G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159764	0.78226	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	D;D	0.84800	-1.9;-1.9	5.62	4.75	0.60458	GPS domain (3);	0.000000	0.64402	D	0.000016	D	0.95245	0.8458	H	0.99058	4.415	0.48087	D	0.999584	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95812	0.8842	10	0.87932	D	0	.	11.2359	0.48940	0.0844:0.0:0.9156:0.0	.	102;397	E9PHI0;Q96K78	.;GP128_HUMAN	C	397;102	ENSP00000273352:G397C;ENSP00000419788:G102C	ENSP00000273352:G397C	G	+	1	0	GPR128	101848181	1.000000	0.71417	0.891000	0.34965	0.317000	0.28152	6.411000	0.73298	1.360000	0.45960	0.655000	0.94253	GGC		0.393	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			6	40	1	0	1.07e-07	2.3e-07	6	40				
DZIP3	9666	broad.mit.edu	37	3	108373010	108373010	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:108373010G>T	ENST00000361582.3	+	19	2282	c.2052G>T	c.(2050-2052)aaG>aaT	p.K684N	DZIP3_ENST00000463306.1_Missense_Mutation_p.K684N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	684					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGGTAGAAAAGGAAGAGCAGT	0.363																																						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2050-2052)AAG>AAT		DAZ interacting protein 3, zinc finger							125.0	110.0	115.0					3																	108373010		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108373010G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2052G>T	3.37:g.108373010G>T	ENSP00000355028:p.Lys684Asn					DZIP3_uc003dxf.1_Missense_Mutation_p.K684N|DZIP3_uc011bhm.1_Missense_Mutation_p.K135N|DZIP3_uc003dxg.1_Missense_Mutation_p.K407N	p.K684N	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			19	2474	+			684					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2052G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393979	0.25205	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.84730	-1.89;-1.89	4.54	-0.589	0.11683	.	0.527371	0.17227	N	0.182109	D	0.84844	0.5562	L	0.47716	1.5	0.25899	N	0.983377	D;D	0.71674	0.998;0.998	D;D	0.78314	0.987;0.991	T	0.73186	-0.4062	10	0.52906	T	0.07	-0.5572	0.9282	0.01329	0.2809:0.1576:0.3998:0.1618	.	302;684	D3DN61;Q86Y13	.;DZIP3_HUMAN	N	684	ENSP00000355028:K684N;ENSP00000419981:K684N	ENSP00000355028:K684N	K	+	3	2	DZIP3	109855700	0.955000	0.32602	0.101000	0.21167	0.358000	0.29455	0.030000	0.13688	-0.347000	0.08299	-1.131000	0.01979	AAG		0.363	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		21	25	1	0	2.71e-06	5.55e-06	21	25				
SPICE1	152185	broad.mit.edu	37	3	113172677	113172677	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:113172677G>C	ENST00000295872.4	-	14	2037	c.1778C>G	c.(1777-1779)tCa>tGa	p.S593*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	593					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.S593*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CTCTTCACTTGAATTCTGAAT	0.428																																						uc003eag.3		NA																	1	Substitution - Nonsense(1)		breast(1)		0						c.(1777-1779)TCA>TGA		coiled-coil domain containing 52							115.0	118.0	117.0					3																	113172677		2203	4300	6503	SO:0001587	stop_gained	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172677G>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1778C>G	3.37:g.113172677G>C	ENSP00000295872:p.Ser593*					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Nonsense_Mutation_p.S489*	p.S593*	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			14	2069	-			593					D3DN72|Q8WUX6	Nonsense_Mutation	SNP	ENST00000295872.4	37	c.1778C>G	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	38	6.956184	0.97960	.	.	ENSG00000163611	ENST00000295872	.	.	.	5.49	4.61	0.57282	.	0.671033	0.13920	N	0.353637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-3.4514	9.2369	0.37473	0.0959:0.0:0.9041:0.0	.	.	.	.	X	593	.	ENSP00000295872:S593X	S	-	2	0	SPICE1	114655367	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	1.926000	0.40084	2.574000	0.86865	0.563000	0.77884	TCA		0.428	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		41	32	0	0	0	0	41	32				
PTPLB	201562	broad.mit.edu	37	3	123247241	123247241	+	Missense_Mutation	SNP	C	C	A	rs202187144		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:123247241C>A	ENST00000383657.5	-	4	530	c.373G>T	c.(373-375)Gtc>Ttc	p.V125F		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	125					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		ACCTCTTTGACGCTATGTGTT	0.358																																						uc003egj.2		NA																	0				kidney(1)	1						c.(373-375)GTC>TTC		protein tyrosine phosphatase-like (proline							179.0	157.0	164.0					3																	123247241		1857	4113	5970	SO:0001583	missense	201562				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding	g.chr3:123247241C>A	AK074605	CCDS46895.1	3q21.1	2010-04-30			ENSG00000206527	ENSG00000206527			9640	protein-coding gene	gene with protein product		615939				15024066	Standard	NM_198402		Approved		uc003egj.2	Q6Y1H2	OTTHUMG00000159529	ENST00000383657.5:c.373G>T	3.37:g.123247241C>A	ENSP00000373153:p.Val125Phe						p.V125F	NM_198402	NP_940684	Q6Y1H2	HACD2_HUMAN		GBM - Glioblastoma multiforme(114;0.1)	4	423	-			125			Helical; (Potential).			Missense_Mutation	SNP	ENST00000383657.5	37	c.373G>T	CCDS46895.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635131	0.67130	.	.	ENSG00000206527	ENST00000383657;ENST00000469317	T;T	0.30182	1.54;1.54	4.94	4.94	0.65067	.	0.062067	0.64402	D	0.000006	T	0.20210	0.0486	N	0.04686	-0.185	0.80722	D	1	P	0.38223	0.623	P	0.45343	0.477	T	0.05666	-1.0871	10	0.07813	T	0.8	-17.1624	15.4281	0.75069	0.0:1.0:0.0:0.0	.	125	Q6Y1H2	HACD2_HUMAN	F	125;14	ENSP00000373153:V125F;ENSP00000419237:V14F	ENSP00000373153:V125F	V	-	1	0	PTPLB	124729931	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.922000	0.70036	2.440000	0.82611	0.655000	0.94253	GTC		0.358	PTPLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356021.3	NM_198402		18	37	1	0	1.68e-08	3.66e-08	18	37				
PLXNA1	5361	broad.mit.edu	37	3	126707921	126707921	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:126707921G>A	ENST00000393409.2	+	1	485	c.485G>A	c.(484-486)aGc>aAc	p.S162N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S139N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	162	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACCTGTCCAGCGTGCAGGAG	0.657																																						uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(415-417)AGC>AAC		plexin A1							33.0	33.0	33.0					3																	126707921		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707921G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.485G>A	3.37:g.126707921G>A	ENSP00000377061:p.Ser162Asn						p.S139N	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	420	+			162			Sema.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.416G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331422	0.24167	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11495	2.77;2.77	3.56	3.56	0.40772	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.121147	0.56097	D	0.000035	T	0.20210	0.0486	M	0.80616	2.505	0.58432	D	0.999998	B	0.29136	0.234	B	0.40940	0.344	T	0.08146	-1.0736	10	0.07644	T	0.81	.	15.3359	0.74255	0.0:0.0:1.0:0.0	.	162	Q9UIW2	PLXA1_HUMAN	N	162;139	ENSP00000377061:S162N;ENSP00000251772:S139N	ENSP00000251772:S139N	S	+	2	0	PLXNA1	128190611	1.000000	0.71417	0.974000	0.42286	0.535000	0.34838	9.420000	0.97426	1.834000	0.53371	0.313000	0.20887	AGC		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		4	32	0	0	0	0	4	32				
PIK3R4	30849	broad.mit.edu	37	3	130403120	130403120	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:130403120G>A	ENST00000356763.3	-	16	4138	c.3581C>T	c.(3580-3582)cCt>cTt	p.P1194L	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1194					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGATACAGAGGGTGCATTGA	0.483																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(3580-3582)CCT>CTT		phosphoinositide-3-kinase, regulatory subunit 4							108.0	99.0	102.0					3																	130403120		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130403120G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3581C>T	3.37:g.130403120G>A	ENSP00000349205:p.Pro1194Leu						p.P1194L	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			16	4162	-			1194			WD 5.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.3581C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253742	0.95336	.	.	ENSG00000196455	ENST00000356763	T	0.02197	4.4	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.15696	0.0378	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00146	-1.1992	10	0.66056	D	0.02	-22.8275	19.3314	0.94291	0.0:0.0:1.0:0.0	.	1194	Q99570	PI3R4_HUMAN	L	1194	ENSP00000349205:P1194L	ENSP00000349205:P1194L	P	-	2	0	PIK3R4	131885810	1.000000	0.71417	0.956000	0.39512	0.972000	0.66771	9.577000	0.98196	2.587000	0.87381	0.491000	0.48974	CCT		0.483	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		8	57	0	0	0	0	8	57				
EPHB1	2047	broad.mit.edu	37	3	134670706	134670706	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:134670706T>C	ENST00000398015.3	+	3	987	c.617T>C	c.(616-618)tTt>tCt	p.F206S	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	206	Cys-rich.				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						TTTGCAGTGTTTCCAGAGACT	0.483																																						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.(616-618)TTT>TCT		ephrin receptor EphB1 precursor							198.0	187.0	190.0					3																	134670706		1954	4164	6118	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670706T>C	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.617T>C	3.37:g.134670706T>C	ENSP00000381097:p.Phe206Ser					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	p.F206S	NM_004441	NP_004432	P54762	EPHB1_HUMAN			3	837	+			206			Extracellular (Potential).|Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.617T>C	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319817	0.81469	.	.	ENSG00000154928	ENST00000398015	D	0.86097	-2.07	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	M	0.94021	3.485	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.95590	0.8654	9	.	.	.	.	15.3568	0.74434	0.0:0.0:0.0:1.0	.	206	P54762	EPHB1_HUMAN	S	206	ENSP00000381097:F206S	.	F	+	2	0	EPHB1	136153396	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.030000	0.59900	0.459000	0.35465	TTT		0.483	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		40	244	0	0	0	0	40	244				
SLC35G2	80723	broad.mit.edu	37	3	136573436	136573436	+	Missense_Mutation	SNP	A	A	G	rs200186660		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:136573436A>G	ENST00000446465.2	+	2	762	c.134A>G	c.(133-135)tAt>tGt	p.Y45C	RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.Y45C|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		AATGAAGGCTATGGAAATTTT	0.398																																						uc003erf.3		NA																	0				ovary(1)	1						c.(133-135)TAT>TGT		transmembrane protein 22							137.0	154.0	148.0					3																	136573436		2202	4300	6502	SO:0001583	missense	80723					Golgi apparatus|integral to membrane		g.chr3:136573436A>G	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.134A>G	3.37:g.136573436A>G	ENSP00000400839:p.Tyr45Cys					TMEM22_uc003erg.3_Missense_Mutation_p.Y45C|TMEM22_uc010hub.2_Missense_Mutation_p.Y45C	p.Y45C	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN			2	348	+			45						Missense_Mutation	SNP	ENST00000446465.2	37	c.134A>G	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396909	0.25205	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.24723	1.84;1.84	5.46	4.29	0.51040	.	0.421104	0.26275	N	0.025317	T	0.19485	0.0468	L	0.44542	1.39	0.32968	D	0.521887	D	0.54047	0.964	B	0.40702	0.338	T	0.29305	-1.0016	10	0.40728	T	0.16	.	6.9422	0.24498	0.7695:0.1503:0.0802:0.0	.	45	Q8TBE7	TMM22_HUMAN	C	45	ENSP00000400839:Y45C;ENSP00000376794:Y45C	ENSP00000376794:Y45C	Y	+	2	0	TMEM22	138056126	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.248000	0.51430	0.906000	0.36621	0.402000	0.26972	TAT		0.398	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		44	275	0	0	0	0	44	275				
DZIP1L	199221	broad.mit.edu	37	3	137796423	137796423	+	Missense_Mutation	SNP	C	C	T	rs376723739		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:137796423C>T	ENST00000327532.2	-	11	1702	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	DZIP1L_ENST00000469243.1_Missense_Mutation_p.R447H|DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	447					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.R447P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						AGTGGGGTTACGCCTCAGAGC	0.547																																						uc003erq.2		NA																	1	Substitution - Missense(1)	p.R447P(1)	pancreas(1)	ovary(1)|pancreas(1)	2						c.(1339-1341)CGT>CAT		DAZ interacting protein 1-like		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	202.0	163.0	176.0		1340,1340	-7.7	0.0	3		176	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DZIP1L	NM_001170538.1,NM_173543.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	447/540,447/768	137796423	1,13005	2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137796423C>T	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1340G>A	3.37:g.137796423C>T	ENSP00000332148:p.Arg447His					DZIP1L_uc003err.1_Missense_Mutation_p.R447H	p.R447H	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			11	1703	-			447					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.1340G>A	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	c	5.996	0.367613	0.11352	0.0	1.16E-4	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.38887	1.11;1.38	5.25	-7.71	0.01254	.	1.762990	0.03559	N	0.226720	T	0.30854	0.0778	L	0.59436	1.845	0.09310	N	1	P;P	0.38992	0.653;0.521	B;B	0.35073	0.195;0.096	T	0.25222	-1.0138	10	0.41790	T	0.15	4.5687	2.6069	0.04880	0.0993:0.3732:0.1836:0.3439	.	447;447	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	H	447	ENSP00000332148:R447H;ENSP00000419486:R447H	ENSP00000332148:R447H	R	-	2	0	DZIP1L	139279113	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.530000	0.06179	-2.366000	0.00606	-2.359000	0.00239	CGT		0.547	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		28	162	0	0	0	0	28	162				
FOXL2NB	401089	broad.mit.edu	37	3	138669186	138669186	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:138669186C>A	ENST00000383165.3	+	3	431	c.300C>A	c.(298-300)cgC>cgA	p.R100R		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		100										large_intestine(1)|lung(3)	4						GGAAGCGTCGCGGCTGCTCTG	0.687																																						uc003esx.1		NA																	0					0						c.(298-300)CGC>CGA		chromosome 3 open reading frame 72							12.0	17.0	15.0					3																	138669186		1674	3849	5523	SO:0001819	synonymous_variant	401089							g.chr3:138669186C>A																												ENST00000383165.3:c.300C>A	3.37:g.138669186C>A						C3orf72_uc011bmr.1_3'UTR	p.R100R	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN			3	431	+			100					A6NGX0	Silent	SNP	ENST00000383165.3	37	c.300C>A	CCDS43155.1																																																																																				0.687	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			22	42	1	0	2.89e-11	6.59e-11	22	42				
C3orf58	205428	broad.mit.edu	37	3	143691744	143691744	+	Silent	SNP	C	C	T	rs369044041		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:143691744C>T	ENST00000315691.3	+	1	1105	c.570C>T	c.(568-570)ggC>ggT	p.G190G	C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	190					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGACTCGGGCAGCTTCCTGC	0.697																																						uc003evo.2		NA																	0				ovary(1)	1						c.(568-570)GGC>GGT		hypothetical protein LOC205428 isoform a		C		0,4340		0,0,2170	10.0	9.0	9.0		570	3.4	1.0	3		9	1,8477		0,1,4238	no	coding-synonymous	C3orf58	NM_173552.3		0,1,6408	TT,TC,CC		0.0118,0.0,0.0078		190/431	143691744	1,12817	2170	4239	6409	SO:0001819	synonymous_variant	205428					COPI vesicle coat|extracellular region		g.chr3:143691744C>T	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.570C>T	3.37:g.143691744C>T						C3orf58_uc011bnl.1_5'Flank	p.G190G	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN			1	1105	+			190					B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	c.570C>T	CCDS3130.1																																																																																				0.697	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		7	13	0	0	0	0	7	13				
ZIC1	7545	broad.mit.edu	37	3	147128596	147128596	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:147128596G>A	ENST00000282928.4	+	1	1426	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	233					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						GATCGAGCCCGAGCAGCTGGC	0.592																																						uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(697-699)GAG>AAG		zinc finger protein of the cerebellum 1							68.0	64.0	65.0					3																	147128596		2203	4300	6503	SO:0001583	missense	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.chr3:147128596G>A	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.697G>A	3.37:g.147128596G>A	ENSP00000282928:p.Glu233Lys						p.E233K	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1416	+			233			C2H2-type 1; atypical.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.697G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935079	0.73442	.	.	ENSG00000152977	ENST00000282928	T	0.13089	2.62	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.80847	2.515	0.80722	D	1	D	0.65815	0.995	D	0.65573	0.936	T	0.46624	-0.9178	10	0.72032	D	0.01	.	16.1416	0.81528	0.0:0.0:1.0:0.0	.	233	Q15915	ZIC1_HUMAN	K	233	ENSP00000282928:E233K	ENSP00000282928:E233K	E	+	1	0	ZIC1	148611286	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.586000	0.82596	1.857000	0.53885	0.561000	0.74099	GAG		0.592	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		9	48	0	0	0	0	9	48				
SI	6476	broad.mit.edu	37	3	164732915	164732915	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:164732915G>T	ENST00000264382.3	-	33	4057	c.3995C>A	c.(3994-3996)gCa>gAa	p.A1332E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1332	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)			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)	TAGTACCTTTGCCCAACAAAT	0.323										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3994-3996)GCA>GAA		sucrase-isomaltase	Acarbose(DB00284)						86.0	80.0	82.0					3																	164732915		2203	4300	6503	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.chr3:164732915G>T	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.3995C>A	3.37:g.164732915G>T	ENSP00000264382:p.Ala1332Glu	HNSCC(35;0.089)					p.A1332E	NM_001041	NP_001032	P14410	SUIS_HUMAN			33	4057	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1332			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3995C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608311	0.46527	.	.	ENSG00000090402	ENST00000264382	D	0.93076	-3.16	5.35	2.36	0.29203	Glycoside hydrolase, superfamily (1);	0.183407	0.47852	D	0.000214	D	0.92996	0.7771	M	0.74881	2.28	0.33437	D	0.581892	B	0.20052	0.041	B	0.27608	0.081	D	0.93483	0.6829	10	0.87932	D	0	.	16.7686	0.85531	0.0:0.5002:0.4998:0.0	.	1332	P14410	SUIS_HUMAN	E	1332	ENSP00000264382:A1332E	ENSP00000264382:A1332E	A	-	2	0	SI	166215609	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.638000	0.37165	0.765000	0.33221	0.591000	0.81541	GCA		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		5	51	1	0	0.000602214	0.00109749	5	51				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			17	44	0	0	0	0	17	44				
VPS8	23355	broad.mit.edu	37	3	184711810	184711810	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:184711810G>A	ENST00000437079.3	+	43	3796	c.3625G>A	c.(3625-3627)Gga>Aga	p.G1209R	VPS8_ENST00000287546.4_Missense_Mutation_p.G1209R|VPS8_ENST00000436792.2_Missense_Mutation_p.G1207R|VPS8_ENST00000446204.2_Missense_Mutation_p.G1117R	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1209							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGAAATCCAGGGACTTATCTT	0.294																																						uc003fpb.1		NA																	0				ovary(1)	1						c.(3619-3621)GGA>AGA		vacuolar protein sorting 8 homolog isoform b							62.0	57.0	58.0					3																	184711810		1800	4065	5865	SO:0001583	missense	23355						zinc ion binding	g.chr3:184711810G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3625G>A	3.37:g.184711810G>A	ENSP00000397879:p.Gly1209Arg					VPS8_uc010hyd.1_Missense_Mutation_p.G1117R|VPS8_uc010hye.1_Missense_Mutation_p.G636R	p.G1207R	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		42	3790	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1209					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.3619G>A	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447939	0.84101	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.17691	2.27;2.27;2.27;2.26	5.83	5.83	0.93111	.	0.048312	0.85682	D	0.000000	T	0.34803	0.0910	L	0.53249	1.67	0.80722	D	1	D;D;D	0.60575	0.98;0.978;0.988	P;P;P	0.61592	0.624;0.891;0.792	T	0.01133	-1.1441	10	0.16420	T	0.52	-16.4645	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1209;1117;1207	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	R	1209;1209;1207;1117	ENSP00000287546:G1209R;ENSP00000397879:G1209R;ENSP00000404704:G1207R;ENSP00000405483:G1117R	ENSP00000287546:G1209R	G	+	1	0	VPS8	186194504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.001000	0.76297	2.753000	0.94483	0.585000	0.79938	GGA		0.294	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		3	7	0	0	0	0	3	7				
MASP1	5648	broad.mit.edu	37	3	186974553	186974553	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:186974553T>C	ENST00000337774.5	-	5	1032	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	MASP1_ENST00000169293.6_Missense_Mutation_p.T215A|MASP1_ENST00000392472.2_Missense_Mutation_p.T102A|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.T215A|MASP1_ENST00000392470.2_Missense_Mutation_p.T189A	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	215	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCTCGATGGTATACAGGCAT	0.512																																						uc003frh.1		NA																	0				ovary(2)|breast(1)|liver(1)	4						c.(643-645)ACC>GCC		mannan-binding lectin serine protease 1 isoform							179.0	150.0	160.0					3																	186974553		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186974553T>C	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.643A>G	3.37:g.186974553T>C	ENSP00000336792:p.Thr215Ala					MASP1_uc003fri.2_Missense_Mutation_p.T215A|MASP1_uc003frj.2_Missense_Mutation_p.T184A|MASP1_uc003frk.1_Missense_Mutation_p.T215A|MASP1_uc011bse.1_Missense_Mutation_p.T189A	p.T215A	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	5	975	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		215			Interaction with FCN2.|CUB 2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.643A>G	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211480	0.39102	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.53	1.91	0.25777	CUB (5);	0.368488	0.27451	N	0.019309	T	0.21509	0.0518	L	0.48218	1.51	0.27355	N	0.956127	B;B;B;B;B	0.09022	0.0;0.001;0.001;0.001;0.002	B;B;B;B;B	0.11329	0.005;0.003;0.005;0.006;0.006	T	0.21895	-1.0232	10	0.21014	T	0.42	.	5.5457	0.17063	0.0:0.2293:0.1463:0.6244	.	189;215;102;215;215	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	A	215;215;102;102;215;189	ENSP00000336792:T215A;ENSP00000296280:T215A;ENSP00000376264:T102A;ENSP00000169293:T215A;ENSP00000376262:T189A	ENSP00000169293:T215A	T	-	1	0	MASP1	188457247	0.801000	0.28930	0.289000	0.24876	0.933000	0.57130	1.046000	0.30354	0.093000	0.17368	0.459000	0.35465	ACC		0.512	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		10	95	0	0	0	0	10	95				
FGF12	2257	broad.mit.edu	37	3	192078262	192078262	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:192078262G>T	ENST00000454309.2	-	2	1090	c.265C>A	c.(265-267)Cca>Aca	p.P89T	FGF12_ENST00000445105.2_Missense_Mutation_p.P27T|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Missense_Mutation_p.P27T|FGF12_ENST00000264730.3_Missense_Mutation_p.P27T	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	89					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.P89T(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTACCATCTGGGTGCATCTGC	0.408																																						uc003fsx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)|lung(1)|pancreas(1)	4						c.(265-267)CCA>ACA		fibroblast growth factor 12 isoform 1							171.0	148.0	156.0					3																	192078262		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192078262G>T	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.265C>A	3.37:g.192078262G>T	ENSP00000413496:p.Pro89Thr					FGF12_uc003fsy.2_Missense_Mutation_p.P27T	p.P89T	NM_021032	NP_066360	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	2	1091	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	89					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.265C>A	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094941	0.76870	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000448795;ENST00000418610	D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.53	5.53	0.82687	.	0.097739	0.64402	D	0.000001	D	0.88983	0.6586	M	0.86178	2.8	0.80722	D	1	P;P	0.42827	0.603;0.791	P;P	0.47915	0.481;0.561	D	0.90559	0.4514	10	0.87932	D	0	.	18.4573	0.90725	0.0:0.0:1.0:0.0	.	27;89	P61328-2;P61328	.;FGF12_HUMAN	T	27;27;27;89;27;3;27	ENSP00000264730:P27T;ENSP00000393686:P27T;ENSP00000413496:P89T;ENSP00000397635:P27T;ENSP00000412904:P3T;ENSP00000395517:P27T	ENSP00000264730:P27T	P	-	1	0	FGF12	193560956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.191000	0.65110	2.613000	0.88420	0.591000	0.81541	CCA		0.408	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		22	68	1	0	4.27e-12	9.88e-12	22	68				
GBA3	57733	broad.mit.edu	37	4	22749401	22749401	+	RNA	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:22749401C>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTTGCTAAACCCATATTCAT	0.448																																						uc003gqp.3		NA																	0					0						c.(769-771)CCC>ACC		cytosolic beta-glucosidase isoform a							91.0	89.0	90.0					4																	22749401		1890	4119	6009			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749401C>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749401C>A						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P258T	p.P257T	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	860	+			257					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.769C>A																																																																																					0.448	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			18	68	1	0	3.53e-06	7.18e-06	18	68				
N4BP2	55728	broad.mit.edu	37	4	40115063	40115063	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:40115063C>A	ENST00000261435.6	+	7	2015	c.1599C>A	c.(1597-1599)caC>caA	p.H533Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	533					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCAGAAACACAAATATAAAG	0.313																																						uc003guy.3		NA																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(1597-1599)CAC>CAA		Nedd4 binding protein 2							94.0	99.0	98.0					4																	40115063		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40115063C>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1599C>A	4.37:g.40115063C>A	ENSP00000261435:p.His533Gln					N4BP2_uc010ifq.2_Missense_Mutation_p.H453Q|N4BP2_uc010ifr.2_Missense_Mutation_p.H453Q	p.H533Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			7	1937	+			533					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1599C>A	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.401696|2.401696	0.42613|0.42613	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.41758|.	0.99|.	5.97|5.97	0.729|0.729	0.18266|0.18266	.|.	0.713496|.	0.14301|.	N|.	0.328280|.	T|T	0.55273|0.55273	0.1910|0.1910	L|L	0.49571|0.49571	1.57|1.57	0.45690|0.45690	D|D	0.998601|0.998601	P;P|.	0.49559|.	0.925;0.647|.	P;B|.	0.48227|.	0.571;0.433|.	T|T	0.46735|0.46735	-0.9170|-0.9170	10|5	0.66056|.	D|.	0.02|.	-3.5271|-3.5271	8.5738|8.5738	0.33585|0.33585	0.0:0.5255:0.0:0.4745|0.0:0.5255:0.0:0.4745	.|.	533;533|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	Q|K	533;453|180	ENSP00000261435:H533Q|.	ENSP00000261435:H533Q|.	H|Q	+|+	3|1	2|0	N4BP2|N4BP2	39791458|39791458	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.778000|0.778000	0.44026|0.44026	1.233000|1.233000	0.32648|0.32648	0.166000|0.166000	0.19597|0.19597	-0.438000|-0.438000	0.05819|0.05819	CAC|CAA		0.313	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		25	97	1	0	0.000375601	0.00069667	25	97				
GUF1	60558	broad.mit.edu	37	4	44680736	44680736	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:44680736G>A	ENST00000281543.5	+	1	291	c.97G>A	c.(97-99)Gcg>Acg	p.A33T	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GCCCCGGTCCGCGCCGACCCT	0.692																																						uc003gww.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(97-99)GCG>ACG		GUF1 GTPase homolog							7.0	9.0	9.0					4																	44680736		2124	4205	6329	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44680736G>A		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.97G>A	4.37:g.44680736G>A	ENSP00000281543:p.Ala33Thr					GUF1_uc010ifz.1_RNA	p.A33T	NM_021927	NP_068746	Q8N442	GUF1_HUMAN			1	304	+			33						Missense_Mutation	SNP	ENST00000281543.5	37	c.97G>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063287	0.36373	.	.	ENSG00000151806	ENST00000281543	T	0.69435	-0.4	3.51	-4.54	0.03452	.	0.846124	0.09877	N	0.744223	T	0.35653	0.0939	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.09818	-1.0657	10	0.31617	T	0.26	1.4609	2.2685	0.04085	0.2754:0.4113:0.1901:0.1232	.	33	Q8N442	GUF1_HUMAN	T	33	ENSP00000281543:A33T	ENSP00000281543:A33T	A	+	1	0	GUF1	44375493	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.539000	0.06113	-1.269000	0.02436	-0.222000	0.12452	GCG		0.692	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		5	24	0	0	0	0	5	24				
GABRA2	2555	broad.mit.edu	37	4	46314582	46314582	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:46314582G>A	ENST00000510861.1	-	5	580	c.407C>T	c.(406-408)gCt>gTt	p.A136V	GABRA2_ENST00000514090.1_Missense_Mutation_p.A136V|GABRA2_ENST00000540012.1_Missense_Mutation_p.A81V|GABRA2_ENST00000515082.1_Missense_Mutation_p.A136V|GABRA2_ENST00000507069.1_Missense_Mutation_p.A136V|GABRA2_ENST00000356504.1_Missense_Mutation_p.A136V|GABRA2_ENST00000381620.4_Missense_Mutation_p.A136V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	136					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CATATTATGAGCTACTGATTT	0.343																																						uc003gxc.3		NA																	0				ovary(2)|skin(2)	4						c.(406-408)GCT>GTT		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						124.0	126.0	125.0					4																	46314582		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46314582G>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.407C>T	4.37:g.46314582G>A	ENSP00000421828:p.Ala136Val					GABRA2_uc010igc.2_Missense_Mutation_p.A136V|GABRA2_uc011bzc.1_Missense_Mutation_p.A81V|GABRA2_uc003gxe.2_Missense_Mutation_p.A136V	p.A136V	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			4	1080	-			136			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.407C>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319013	0.95682	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.104364	0.64402	D	0.000003	D	0.84070	0.5391	L	0.47078	1.49	0.80722	D	1	D;D;D	0.89917	0.995;0.994;1.0	D;P;D	0.91635	0.934;0.828;0.999	T	0.77485	-0.2570	10	0.12766	T	0.61	.	19.3629	0.94448	0.0:0.0:1.0:0.0	.	81;136;136	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	V	136;136;136;136;81;136;136;136;136	ENSP00000421828:A136V;ENSP00000421300:A136V;ENSP00000371033:A136V;ENSP00000348897:A136V;ENSP00000444409:A81V;ENSP00000427603:A136V;ENSP00000423840:A136V;ENSP00000424362:A136V;ENSP00000424093:A136V	ENSP00000348897:A136V	A	-	2	0	GABRA2	46009339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GCT		0.343	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			11	69	0	0	0	0	11	69				
NFXL1	152518	broad.mit.edu	37	4	47857090	47857090	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:47857090T>A	ENST00000507489.1	-	20	2583	c.2407A>T	c.(2407-2409)Aaa>Taa	p.K803*	NFXL1_ENST00000381538.3_Nonsense_Mutation_p.K803*	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	803						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						TTTATTCTTTTACAAGGACAT	0.299																																						uc010igh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2407-2409)AAA>TAA		nuclear transcription factor, X-box binding-like							66.0	67.0	67.0					4																	47857090		2203	4293	6496	SO:0001587	stop_gained	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47857090T>A	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.2407A>T	4.37:g.47857090T>A	ENSP00000422037:p.Lys803*					NFXL1_uc003gxo.2_Nonsense_Mutation_p.K128*|NFXL1_uc003gxp.2_Nonsense_Mutation_p.K803*|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Nonsense_Mutation_p.K803*	p.K803*	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			20	2584	-			803					B1Q2K1|Q86VG1|Q8WVH1	Nonsense_Mutation	SNP	ENST00000507489.1	37	c.2407A>T	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	T	40	8.098992	0.98654	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	.	.	.	5.99	5.99	0.97316	.	0.055858	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9203	16.2055	0.82126	0.0:0.0:0.0:1.0	.	.	.	.	X	803	.	ENSP00000370949:K803X	K	-	1	0	NFXL1	47551847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.202000	0.72131	2.310000	0.77875	0.449000	0.29647	AAA		0.299	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		15	51	0	0	0	0	15	51				
USP46	64854	broad.mit.edu	37	4	53492412	53492412	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:53492412G>C	ENST00000441222.3	-	4	518	c.334C>G	c.(334-336)Ctc>Gtc	p.L112V	USP46_ENST00000451218.2_Missense_Mutation_p.L85V|USP46_ENST00000508499.1_Missense_Mutation_p.L105V	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	112	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)			TTATCAAAGAGATCTGGAAAG	0.343																																						uc003gzn.2		NA																	0				ovary(1)	1						c.(334-336)CTC>GTC		ubiquitin specific peptidase 46 isoform 1							47.0	42.0	44.0					4																	53492412		1839	4097	5936	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.chr4:53492412G>C	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.334C>G	4.37:g.53492412G>C	ENSP00000407818:p.Leu112Val					USP46_uc003gzm.3_Missense_Mutation_p.L105V|USP46_uc011bzr.1_Missense_Mutation_p.L89V|USP46_uc011bzs.1_Translation_Start_Site	p.L112V	NM_022832	NP_073743	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		4	519	-			112					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.334C>G	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338967	0.60963	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.32272	1.46;1.46;1.46	5.08	5.08	0.68730	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.53938	D	0.000053	T	0.35624	0.0938	M	0.68317	2.08	0.80722	D	1	B;B;B	0.19583	0.037;0.02;0.016	B;B;B	0.25291	0.059;0.044;0.026	T	0.14587	-1.0467	10	0.20519	T	0.43	-14.1728	17.8434	0.88721	0.0:0.0:1.0:0.0	.	100;112;105	P62068-4;P62068;P62068-3	.;UBP46_HUMAN;.	V	112;85;105	ENSP00000407818:L112V;ENSP00000390102:L85V;ENSP00000423244:L105V	ENSP00000407818:L112V	L	-	1	0	USP46	53187169	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	5.731000	0.68554	2.529000	0.85273	0.650000	0.86243	CTC		0.343	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		6	26	0	0	0	0	6	26				
ANKRD17	26057	broad.mit.edu	37	4	73956626	73956626	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:73956626G>A	ENST00000358602.4	-	29	6835	c.6719C>T	c.(6718-6720)cCt>cTt	p.P2240L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2127L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1989L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2240					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGAGCAATAGGCTTATTTGC	0.458																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(6718-6720)CCT>CTT		ankyrin repeat domain protein 17 isoform a							249.0	256.0	254.0					4																	73956626		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73956626G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6719C>T	4.37:g.73956626G>A	ENSP00000351416:p.Pro2240Leu					ANKRD17_uc003hgo.2_Missense_Mutation_p.P2127L|ANKRD17_uc003hgq.2_Missense_Mutation_p.P1989L|ANKRD17_uc003hgr.2_Missense_Mutation_p.P2239L	p.P2240L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	6836	-	Breast(15;0.000295)		2240					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.6719C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614183	0.28712	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.68181	-0.23;-0.21;-0.31	5.65	4.79	0.61399	.	0.327147	0.25833	N	0.028018	T	0.56232	0.1971	L	0.29908	0.895	0.40782	D	0.983189	B;B;B;B	0.25609	0.13;0.13;0.079;0.023	B;B;B;B	0.21360	0.034;0.034;0.015;0.01	T	0.55648	-0.8108	10	0.51188	T	0.08	.	15.8633	0.79043	0.0:0.0:0.8632:0.1368	.	2239;1989;2240;2127	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	L	2240;1647;1989;2127;624	ENSP00000351416:P2240L;ENSP00000332265:P1989L;ENSP00000427151:P2127L	ENSP00000332265:P1989L	P	-	2	0	ANKRD17	74175490	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.380000	0.66202	1.366000	0.46076	0.655000	0.94253	CCT		0.458	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		49	224	0	0	0	0	49	224				
GPRIN3	285513	broad.mit.edu	37	4	90169444	90169444	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:90169444G>T	ENST00000609438.1	-	2	2336	c.1818C>A	c.(1816-1818)agC>agA	p.S606R	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S606R	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	606										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGATGGCAGGCTCAGGCTGG	0.582																																						uc003hsm.1		NA																	0				ovary(3)	3						c.(1816-1818)AGC>AGA		G protein-regulated inducer of neurite outgrowth							90.0	93.0	92.0					4																	90169444		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169444G>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1818C>A	4.37:g.90169444G>T	ENSP00000476603:p.Ser606Arg						p.S606R	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2337	-		Hepatocellular(203;0.114)	606					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1818C>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745541	0.49151	.	.	ENSG00000185477	ENST00000333209	T	0.17370	2.28	5.64	1.81	0.25067	.	0.185812	0.26510	N	0.023965	T	0.16769	0.0403	L	0.29908	0.895	0.28267	N	0.924575	D	0.59767	0.986	P	0.53035	0.716	T	0.03840	-1.0999	10	0.59425	D	0.04	-9.1568	5.6775	0.17757	0.1442:0.1718:0.5878:0.0962	.	606	Q6ZVF9	GRIN3_HUMAN	R	606	ENSP00000328672:S606R	ENSP00000328672:S606R	S	-	3	2	GPRIN3	90388467	0.880000	0.30214	1.000000	0.80357	0.349000	0.29174	0.049000	0.14099	0.740000	0.32651	0.655000	0.94253	AGC		0.582	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		31	100	1	0	1.08e-15	2.57e-15	31	100				
GSTCD	79807	broad.mit.edu	37	4	106744222	106744222	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:106744222G>A	ENST00000515279.1	+	6	1572	c.1352G>A	c.(1351-1353)gGt>gAt	p.G451D	GSTCD_ENST00000394728.3_Missense_Mutation_p.G451D|RP11-45L9.1_ENST00000509003.1_RNA|GSTCD_ENST00000515255.1_3'UTR|RP11-45L9.1_ENST00000504955.1_RNA|GSTCD_ENST00000394730.3_Missense_Mutation_p.G364D|RP11-45L9.1_ENST00000506527.1_RNA|GSTCD_ENST00000360505.5_Missense_Mutation_p.G451D			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	451						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTCTGCAGCGGTGGGGTATTT	0.383																																						uc003hxz.3		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1351-1353)GGT>GAT		glutathione S-transferase, C-terminal domain							151.0	140.0	144.0					4																	106744222		2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106744222G>A	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1352G>A	4.37:g.106744222G>A	ENSP00000422354:p.Gly451Asp					GSTCD_uc003hxx.2_Missense_Mutation_p.G451D|GSTCD_uc003hxy.3_Missense_Mutation_p.G364D|GSTCD_uc011cfb.1_Missense_Mutation_p.G74D	p.G451D	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	6	1424	+		Hepatocellular(203;0.217)	451					A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.1352G>A	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498818	0.85069	.	.	ENSG00000138780	ENST00000394730;ENST00000515279;ENST00000360505;ENST00000394728	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97268	0.9909	10	0.87932	D	0	-12.3402	18.3025	0.90168	0.0:0.0:1.0:0.0	.	451;74	Q8NEC7;B7Z8J7	GSTCD_HUMAN;.	D	364;451;451;451	ENSP00000378218:G364D;ENSP00000422354:G451D;ENSP00000353695:G451D;ENSP00000378216:G451D	ENSP00000353695:G451D	G	+	2	0	GSTCD	106963671	1.000000	0.71417	0.919000	0.36401	0.842000	0.47809	7.404000	0.79996	2.386000	0.81285	0.585000	0.79938	GGT		0.383	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		25	75	0	0	0	0	25	75				
ANK2	287	broad.mit.edu	37	4	114284553	114284553	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:114284553C>A	ENST00000357077.4	+	40	10869	c.10816C>A	c.(10816-10818)Ccc>Acc	p.P3606T	ANK2_ENST00000394537.3_Missense_Mutation_p.P1521T|ANK2_ENST00000509550.1_Missense_Mutation_p.P697T|ANK2_ENST00000264366.6_Missense_Mutation_p.P3573T|ANK2_ENST00000510275.2_Missense_Mutation_p.P173T|ANK2_ENST00000506722.1_Missense_Mutation_p.P1512T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3606	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATTGAAAATCCCAACTCTCT	0.383																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10816-10818)CCC>ACC		ankyrin 2 isoform 1							110.0	109.0	109.0					4																	114284553		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114284553C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10816C>A	4.37:g.114284553C>A	ENSP00000349588:p.Pro3606Thr					ANK2_uc003ibd.3_Missense_Mutation_p.P1512T|ANK2_uc003ibf.3_Missense_Mutation_p.P1521T|ANK2_uc011cgc.1_Missense_Mutation_p.P697T|ANK2_uc003ibg.3_Missense_Mutation_p.P505T|ANK2_uc003ibh.3_Missense_Mutation_p.P195T|ANK2_uc011cgd.1_Missense_Mutation_p.P908T	p.P3606T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	40	10916	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3573			Death.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10816C>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.821590|4.821590	0.90873|0.90873	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960;ENST00000504415	D;D;D;D;D;D;D|.	0.86694|.	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|.	0.56097|.	D|.	0.000023|.	T|T	0.78272|0.78272	0.4257|0.4257	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999991|0.999991	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	0.999;0.991;0.974;1.0;0.999;1.0|.	T|T	0.78145|0.78145	-0.2318|-0.2318	10|5	0.44086|.	T|.	0.13|.	.|.	19.291|19.291	0.94100|0.94100	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	697;556;522;1521;3606;1512|.	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.|.	T|Y	1512;556;1521;3606;3573;1512;697;173;616|522;173	ENSP00000421067:P1512T;ENSP00000378044:P1521T;ENSP00000349588:P3606T;ENSP00000264366:P3573T;ENSP00000426944:P697T;ENSP00000421023:P173T;ENSP00000422498:P616T|.	ENSP00000264366:P3573T|.	P|S	+|+	1|2	0|0	ANK2|ANK2	114504002|114504002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.426000|7.426000	0.80270|0.80270	2.623000|2.623000	0.88846|0.88846	0.650000|0.650000	0.86243|0.86243	CCC|TCC		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		11	42	1	0	1.59e-06	3.31e-06	11	42				
MARCH1	55016	broad.mit.edu	37	4	165118530	165118530	+	Intron	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:165118530T>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTAAGCTCTTGAGGTTTTCT	0.418																																						uc011cjk.1		NA																	0					0						c.(334-336)AAG>TAG		acidic nuclear phosphoprotein 32C							158.0	159.0	159.0					4																	165118530		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118530T>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85716A>T	4.37:g.165118530T>A						MARCH1_uc003iqs.1_Intron	p.K112*	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	334	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	112			LRR 4.		D3DP29|Q9NWR0	Nonsense_Mutation	SNP	ENST00000503008.1	37	c.334A>T	CCDS54814.1																																																																																				0.418	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		34	92	0	0	0	0	34	92				
WDR17	116966	broad.mit.edu	37	4	177098210	177098210	+	Splice_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:177098210C>A	ENST00000280190.4	+	29	3724	c.3568C>A	c.(3568-3570)Cag>Aag	p.Q1190K	WDR17_ENST00000507824.2_Splice_Site_p.Q1165K|WDR17_ENST00000393643.2_Splice_Site_p.Q1166K|WDR17_ENST00000508596.1_Splice_Site_p.Q1151K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1190										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)		CACGTTCAGTCAGCTATTAAA	0.348																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(3568-3570)CAG>AAG		WD repeat domain 17 isoform 1							62.0	62.0	62.0					4																	177098210		2203	4300	6503	SO:0001630	splice_region_variant	116966							g.chr4:177098210C>A	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.3567-1C>A	4.37:g.177098210C>A						WDR17_uc003iuk.2_Missense_Mutation_p.Q1166K|WDR17_uc003ium.3_Missense_Mutation_p.Q1151K|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.Q401K	p.Q1190K	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)	29	3724	+		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)	1190					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3568C>A	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.53|19.53	3.844105|3.844105	0.71488|0.71488	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.54479|.	0.57;0.57;0.57|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76435|.	0.3987|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	P;D;D|.	0.61080|.	0.925;0.989;0.989|.	P;D;D|.	0.69824|.	0.48;0.966;0.966|.	T|.	0.72465|.	-0.4285|.	10|.	0.38643|0.35671	T|T	0.18|0.21	-12.2134|-12.2134	20.2184|20.2184	0.98308|0.98308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1166;1151;1190|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	K|X	1151;1166;1190;1166|424	ENSP00000422763:Q1151K;ENSP00000377258:Q1166K;ENSP00000280190:Q1190K|.	ENSP00000280190:Q1190K|ENSP00000426985:S424X	Q|S	+|+	1|2	0|0	WDR17|WDR17	177335204|177335204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	7.004000|7.004000	0.76317|0.76317	2.775000|2.775000	0.95449|0.95449	0.644000|0.644000	0.83932|0.83932	CAG|TCA		0.348	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Missense_Mutation	8	29	1	0	5.49e-09	1.21e-08	8	29				
ENPP6	133121	broad.mit.edu	37	4	185018464	185018464	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:185018464G>T	ENST00000296741.2	-	7	1192	c.1051C>A	c.(1051-1053)Cgt>Agt	p.R351S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	351					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGCCATCCACGCTGCCAACCT	0.577																																						uc003iwc.2		NA																	0				central_nervous_system(1)	1						c.(1051-1053)CGT>AGT		ectonucleotide pyrophosphatase/phosphodiesterase							112.0	95.0	101.0					4																	185018464		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185018464G>T	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1051C>A	4.37:g.185018464G>T	ENSP00000296741:p.Arg351Ser						p.R351S	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	7	1193	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	351			Extracellular (Potential).		Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1051C>A	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573952	0.45902	.	.	ENSG00000164303	ENST00000296741	T	0.75260	-0.92	5.41	4.58	0.56647	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.587842	0.19366	N	0.116025	T	0.65512	0.2698	L	0.45352	1.415	0.27960	N	0.9368	B	0.20988	0.05	B	0.25614	0.062	T	0.57418	-0.7815	10	0.34782	T	0.22	-1.4384	8.9591	0.35836	0.0773:0.0:0.7415:0.1812	.	351	Q6UWR7	ENPP6_HUMAN	S	351	ENSP00000296741:R351S	ENSP00000296741:R351S	R	-	1	0	ENPP6	185255458	0.992000	0.36948	0.896000	0.35187	0.965000	0.64279	3.820000	0.55693	1.535000	0.49220	0.561000	0.74099	CGT		0.577	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		8	33	1	0	3.1e-07	6.59e-07	8	33				
MARCH6	10299	broad.mit.edu	37	5	10415698	10415698	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:10415698A>G	ENST00000274140.5	+	21	2197	c.2065A>G	c.(2065-2067)Ata>Gta	p.I689V	MARCH6_ENST00000503788.1_Missense_Mutation_p.I584V|MARCH6_ENST00000449913.2_Missense_Mutation_p.I641V|MARCH6_ENST00000510792.1_Missense_Mutation_p.I387V	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	689					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTGGCTAACCATAAGGGCTGT	0.493																																						uc003jet.1		NA																	0				ovary(1)|breast(1)	2						c.(2065-2067)ATA>GTA		membrane-associated ring finger (C3HC4) 6							246.0	217.0	227.0					5																	10415698		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10415698A>G	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2065A>G	5.37:g.10415698A>G	ENSP00000274140:p.Ile689Val					MARCH6_uc011cmu.1_Missense_Mutation_p.I641V|MARCH6_uc003jeu.1_Missense_Mutation_p.I387V|MARCH6_uc011cmv.1_Missense_Mutation_p.I584V	p.I689V	NM_005885	NP_005876	O60337	MARH6_HUMAN			21	2248	+			689			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2065A>G	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	A	6.789	0.514643	0.12944	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.39997	2.04;1.06;2.04;1.05	5.72	1.97	0.26223	.	0.140023	0.64402	N	0.000008	T	0.29556	0.0737	L	0.42245	1.32	0.53688	D	0.999974	B;B;B;B	0.19331	0.035;0.013;0.0;0.013	B;B;B;B	0.18561	0.022;0.004;0.001;0.003	T	0.07888	-1.0749	10	0.13108	T	0.6	-9.3484	9.0179	0.36182	0.7803:0.0:0.2197:0.0	.	584;641;269;689	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	V	641;584;689;387	ENSP00000414643:I641V;ENSP00000425930:I584V;ENSP00000274140:I689V;ENSP00000424512:I387V	ENSP00000274140:I689V	I	+	1	0	MARCH6	10468698	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	3.600000	0.54052	0.092000	0.17331	0.460000	0.39030	ATA		0.493	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		35	95	0	0	0	0	35	95				
DNAH5	1767	broad.mit.edu	37	5	13719206	13719206	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:13719206C>T	ENST00000265104.4	-	72	12388	c.12284G>A	c.(12283-12285)gGa>gAa	p.G4095E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4095	AAA 6. {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)					AAGTGCCCATCCTCCCTGTCA	0.363									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12283-12285)GGA>GAA		dynein, axonemal, heavy chain 5							70.0	68.0	69.0					5																	13719206		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.chr5:13719206C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12284G>A	5.37:g.13719206C>T	ENSP00000265104:p.Gly4095Glu					DNAH5_uc003jfc.2_Missense_Mutation_p.G263E	p.G4095E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			72	12326	-	Lung NSC(4;0.00476)		4095			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12284G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954808	0.53293	.	.	ENSG00000039139	ENST00000265104	T	0.07688	3.17	5.59	4.73	0.59995	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	M	0.79805	2.47	0.80722	D	1	P	0.36974	0.576	P	0.44673	0.457	T	0.01004	-1.1484	10	0.46703	T	0.11	.	14.4431	0.67330	0.0:0.9295:0.0:0.0705	.	4095	Q8TE73	DYH5_HUMAN	E	4095	ENSP00000265104:G4095E	ENSP00000265104:G4095E	G	-	2	0	DNAH5	13772206	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	5.991000	0.70602	1.366000	0.46076	-0.142000	0.14014	GGA		0.363	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	33	0	0	0	0	10	33				
CDH10	1008	broad.mit.edu	37	5	24511453	24511453	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:24511453T>G	ENST00000264463.4	-	6	1492	c.985A>C	c.(985-987)Atc>Ctc	p.I329L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGTGATGATGCCTTCCTGT	0.413										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(985-987)ATC>CTC		cadherin 10, type 2 preproprotein							253.0	201.0	219.0					5																	24511453		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511453T>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.985A>C	5.37:g.24511453T>G	ENSP00000264463:p.Ile329Leu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.I329L	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1317	-			329			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.985A>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.807771	0.50421	.	.	ENSG00000040731	ENST00000264463	T	0.01767	4.65	5.22	5.22	0.72569	Cadherin (5);Cadherin-like (1);	0.063724	0.64402	D	0.000003	T	0.02727	0.0082	L	0.46947	1.48	0.38494	D	0.948046	B	0.21688	0.059	B	0.32864	0.154	T	0.50381	-0.8835	10	0.37606	T	0.19	.	8.8909	0.35432	0.0:0.0836:0.0:0.9164	.	329	Q9Y6N8	CAD10_HUMAN	L	329	ENSP00000264463:I329L	ENSP00000264463:I329L	I	-	1	0	CDH10	24547210	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.364000	0.44187	1.951000	0.56629	0.528000	0.53228	ATC		0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		17	148	0	0	0	0	17	148				
NPR3	4883	broad.mit.edu	37	5	32774814	32774814	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:32774814G>T	ENST00000265074.8	+	4	1403	c.1060G>T	c.(1060-1062)Gtt>Ttt	p.V354F	NPR3_ENST00000415167.2_Splice_Site_p.V354F|NPR3_ENST00000434067.2_Splice_Site_p.V138F|NPR3_ENST00000415685.2_Splice_Site_p.V138F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	354					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCTTTTCAGGTTAACATGTT	0.443																																						uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1060-1062)GTT>TTT		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						177.0	171.0	173.0					5																	32774814		1892	4101	5993	SO:0001630	splice_region_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32774814G>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1060-1G>T	5.37:g.32774814G>T						NPR3_uc010iuo.2_Missense_Mutation_p.V138F|NPR3_uc011cnz.1_Missense_Mutation_p.V138F|NPR3_uc003jhu.2_Missense_Mutation_p.V354F	p.V354F	NM_000908	NP_000899	P17342	ANPRC_HUMAN			4	1278	+			354			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1060G>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737904	0.89573	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;1.85;1.85	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.058002	0.64402	D	0.000002	D	0.88625	0.6487	M	0.86420	2.815	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.993;0.991;0.993	D	0.88899	0.3351	9	.	.	.	-23.2697	19.9832	0.97338	0.0:0.0:1.0:0.0	.	138;138;354;354	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	F	131;138;138;354;354	ENSP00000425325:V131F;ENSP00000388408:V138F;ENSP00000402490:V138F;ENSP00000265074:V354F;ENSP00000398028:V354F	.	V	+	1	0	NPR3	32810571	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	4.581000	0.60949	2.722000	0.93159	0.655000	0.94253	GTT		0.443	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	Missense_Mutation	39	202	1	0	1.31e-17	3.14e-17	39	202				
EGFLAM	133584	broad.mit.edu	37	5	38427226	38427226	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:38427226G>T	ENST00000354891.3	+	14	2272	c.1926G>T	c.(1924-1926)cgG>cgT	p.R642R	EGFLAM_ENST00000397202.2_Silent_p.R8R|EGFLAM_ENST00000322350.5_Silent_p.R642R|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Silent_p.R408R	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	642	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCACATTTCGGCCAGACTCAG	0.527																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(1924-1926)CGG>CGT		EGF-like, fibronectin type III and laminin G							148.0	144.0	145.0					5																	38427226		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427226G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1926G>T	5.37:g.38427226G>T						EGFLAM_uc003jlb.1_Silent_p.R642R|EGFLAM_uc003jle.1_Silent_p.R408R|EGFLAM_uc003jlf.1_Silent_p.R8R	p.R642R	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			14	2250	+	all_lung(31;0.000385)		642			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.1926G>T	CCDS56363.1																																																																																				0.527	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		30	169	1	0	2.44e-19	5.9e-19	30	169				
EGFLAM	133584	broad.mit.edu	37	5	38427334	38427334	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:38427334C>T	ENST00000354891.3	+	14	2380	c.2034C>T	c.(2032-2034)ggC>ggT	p.G678G	EGFLAM_ENST00000397202.2_Silent_p.G44G|EGFLAM_ENST00000322350.5_Silent_p.G678G|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Silent_p.G444G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	678	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTGACTGTGGCTCTGGGACCG	0.507																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(2032-2034)GGC>GGT		EGF-like, fibronectin type III and laminin G							149.0	152.0	151.0					5																	38427334		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427334C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2034C>T	5.37:g.38427334C>T						EGFLAM_uc003jlb.1_Silent_p.G678G|EGFLAM_uc003jle.1_Silent_p.G444G|EGFLAM_uc003jlf.1_Silent_p.G44G	p.G678G	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			14	2358	+	all_lung(31;0.000385)		678			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2034C>T	CCDS56363.1																																																																																				0.507	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		27	230	0	0	0	0	27	230				
SV2C	22987	broad.mit.edu	37	5	75428020	75428020	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:75428020C>T	ENST00000502798.2	+	2	887	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	SV2C_ENST00000322285.7_Missense_Mutation_p.R149C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	149					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGGTCATGGTCGTTTTCAGTG	0.527																																						uc003kei.1		NA																	0				skin(1)	1						c.(445-447)CGT>TGT		synaptic vesicle glycoprotein 2C							202.0	200.0	200.0					5																	75428020		2040	4182	6222	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428020C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.445C>T	5.37:g.75428020C>T	ENSP00000423541:p.Arg149Cys						p.R149C	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	579	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	149			Cytoplasmic (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.445C>T	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603760	0.66445	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.61392	0.11;0.11	5.9	5.9	0.94986	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.81465	0.4828	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82969	-0.0193	10	0.59425	D	0.04	-13.59	20.2822	0.98520	0.0:1.0:0.0:0.0	.	149	Q496J9	SV2C_HUMAN	C	149	ENSP00000423541:R149C;ENSP00000316983:R149C	ENSP00000316983:R149C	R	+	1	0	SV2C	75463776	1.000000	0.71417	0.992000	0.48379	0.438000	0.31896	6.244000	0.72391	2.806000	0.96561	0.655000	0.94253	CGT		0.527	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			23	80	0	0	0	0	23	80				
VCAN	1462	broad.mit.edu	37	5	82786136	82786136	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:82786136A>T	ENST00000265077.3	+	3	855	c.290A>T	c.(289-291)tAc>tTc	p.Y97F	VCAN_ENST00000342785.4_Missense_Mutation_p.Y97F|VCAN_ENST00000502527.2_Missense_Mutation_p.Y97F|VCAN_ENST00000512590.2_Missense_Mutation_p.Y49F|VCAN_ENST00000343200.5_Missense_Mutation_p.Y97F|VCAN_ENST00000513984.1_Missense_Mutation_p.Y97F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	97	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGTCAGGACTACAAAGGGAGA	0.483																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(289-291)TAC>TTC		versican isoform 1 precursor							134.0	126.0	128.0					5																	82786136		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82786136A>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.290A>T	5.37:g.82786136A>T	ENSP00000265077:p.Tyr97Phe					VCAN_uc003kij.3_Missense_Mutation_p.Y97F|VCAN_uc010jau.2_Missense_Mutation_p.Y97F|VCAN_uc003kik.3_Missense_Mutation_p.Y97F|VCAN_uc003kih.3_Missense_Mutation_p.Y97F	p.Y97F	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	3	646	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	97			Ig-like V-type.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.290A>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.023088	0.54683	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.78	4.59	0.56863	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000033	T	0.68559	0.3014	L	0.52573	1.65	0.44579	D	0.997548	B;B;P;D;B	0.60160	0.289;0.042;0.889;0.987;0.325	B;B;B;D;B	0.70487	0.263;0.052;0.399;0.969;0.246	T	0.68723	-0.5333	10	0.54805	T	0.06	.	12.108	0.53823	0.8711:0.0:0.0:0.1288	.	97;97;97;97;97	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	F	97;97;97;49;97;97;97	ENSP00000265077:Y97F;ENSP00000340062:Y97F;ENSP00000342768:Y97F;ENSP00000425959:Y49F;ENSP00000426251:Y97F;ENSP00000426715:Y97F;ENSP00000421362:Y97F	ENSP00000265077:Y97F	Y	+	2	0	VCAN	82821892	1.000000	0.71417	0.282000	0.24776	0.622000	0.37654	2.393000	0.44442	0.975000	0.38392	0.533000	0.62120	TAC		0.483	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		22	69	0	0	0	0	22	69				
FTMT	94033	broad.mit.edu	37	5	121188322	121188322	+	Missense_Mutation	SNP	G	G	T	rs138610881	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:121188322G>T	ENST00000321339.1	+	1	673	c.664G>T	c.(664-666)Gat>Tat	p.D222Y		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	222					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGGGGCCCCGGATGCTGGCCT	0.507																																						uc003kss.2		NA																	0				ovary(1)	1						c.(664-666)GAT>TAT		ferritin mitochondrial precursor							104.0	117.0	112.0					5																	121188322		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188322G>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.664G>T	5.37:g.121188322G>T	ENSP00000313691:p.Asp222Tyr						p.D222Y	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	673	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	222						Missense_Mutation	SNP	ENST00000321339.1	37	c.664G>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	3.465	-0.109113	0.06924	.	.	ENSG00000181867	ENST00000321339	T	0.69040	-0.37	3.68	2.8	0.32819	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.605421	0.15957	N	0.236424	T	0.52289	0.1725	L	0.53249	1.67	0.09310	N	1	P	0.39282	0.666	B	0.29598	0.104	T	0.53500	-0.8430	10	0.87932	D	0	.	5.2899	0.15721	0.1117:0.2113:0.677:0.0	.	222	Q8N4E7	FTMT_HUMAN	Y	222	ENSP00000313691:D222Y	ENSP00000313691:D222Y	D	+	1	0	FTMT	121216221	0.760000	0.28428	0.075000	0.20258	0.100000	0.18952	1.618000	0.36954	1.107000	0.41642	-0.222000	0.12452	GAT		0.507	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		34	93	1	0	6.85e-11	1.56e-10	34	93				
ISOC1	51015	broad.mit.edu	37	5	128430682	128430682	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:128430682G>A	ENST00000173527.5	+	1	239	c.223G>A	c.(223-225)Gag>Aag	p.E75K	MIR4633_ENST00000584064.1_RNA	NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	75						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GCTGTTCGCCGAGGAGTGGGG	0.652																																						uc003kva.2		NA																	0					0						c.(223-225)GAG>AAG		isochorismatase domain containing 1							32.0	38.0	36.0					5																	128430682		2072	4202	6274	SO:0001583	missense	51015					peroxisome	catalytic activity	g.chr5:128430682G>A	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.223G>A	5.37:g.128430682G>A	ENSP00000173527:p.Glu75Lys						p.E75K	NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	1	241	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	75					Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	c.223G>A	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168323	0.57584	.	.	ENSG00000066583	ENST00000506986;ENST00000514194;ENST00000173527;ENST00000513879	.	.	.	4.36	2.52	0.30459	.	0.000000	0.64402	D	0.000002	T	0.38878	0.1057	L	0.27053	0.805	0.40862	D	0.983848	B	0.09022	0.002	B	0.04013	0.001	T	0.12528	-1.0544	8	.	.	.	-12.9297	8.8235	0.35041	0.0797:0.0:0.7702:0.1501	.	75	Q96CN7	ISOC1_HUMAN	K	54;75;75;66	.	.	E	+	1	0	ISOC1	128458581	1.000000	0.71417	0.921000	0.36526	0.698000	0.40448	7.130000	0.77235	0.552000	0.29026	0.205000	0.17691	GAG		0.652	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		5	16	0	0	0	0	5	16				
PCDHB6	56130	broad.mit.edu	37	5	140530921	140530921	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140530921C>A	ENST00000231136.1	+	1	1083	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	PCDHB6_ENST00000543635.1_Silent_p.I225I	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCAGAGATCACAGTGGCAG	0.453																																						uc003lir.2		NA																	0				skin(1)	1						c.(1081-1083)ATC>ATA		protocadherin beta 6 precursor							119.0	111.0	114.0					5																	140530921		2203	4300	6503	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530921C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1083C>A	5.37:g.140530921C>A						PCDHB6_uc011dah.1_Silent_p.I225I	p.I361I	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1083	+			361			Cadherin 4.|Extracellular (Potential).		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1083C>A	CCDS4248.1																																																																																				0.453	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		14	40	1	0	1.58e-08	3.46e-08	14	40				
PCDHB8	56128	broad.mit.edu	37	5	140558046	140558046	+	Nonsense_Mutation	SNP	C	C	G	rs572220370	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140558046C>G	ENST00000239444.2	+	1	676	c.431C>G	c.(430-432)tCa>tGa	p.S144*	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	144	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGAAAGTATCAGAGAGCAGT	0.423																																						uc011dai.1		NA																	0				skin(4)	4						c.(430-432)TCA>TGA		protocadherin beta 8 precursor							54.0	85.0	74.0					5																	140558046		2203	4300	6503	SO:0001587	stop_gained	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558046C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.431C>G	5.37:g.140558046C>G	ENSP00000239444:p.Ser144*					PCDHB16_uc003liv.2_5'Flank	p.S144*	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	617	+			144			Cadherin 2.|Extracellular (Potential).		B9EGV1	Nonsense_Mutation	SNP	ENST00000239444.2	37	c.431C>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.644855	0.87859	.	.	ENSG00000120322	ENST00000239444	.	.	.	4.25	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.6141	0.28148	0.0:0.7427:0.1666:0.0908	.	.	.	.	X	144	.	ENSP00000239444:S144X	S	+	2	0	PCDHB8	140538230	0.000000	0.05858	0.991000	0.47740	0.727000	0.41649	-0.811000	0.04500	1.911000	0.55334	0.585000	0.79938	TCA		0.423	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		13	49	0	0	0	0	13	49				
PCDHGB4	8641	broad.mit.edu	37	5	140768028	140768028	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140768028G>A	ENST00000519479.1	+	1	577	c.577G>A	c.(577-579)Gag>Aag	p.E193K	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATACCCTGAGATGGTATT	0.443																																						uc003lkc.1		NA																	0					0						c.(577-579)GAG>AAG		protocadherin gamma subfamily B, 4 isoform 1							69.0	71.0	70.0					5																	140768028		1910	4128	6038	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768028G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.577G>A	5.37:g.140768028G>A	ENSP00000428288:p.Glu193Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E193K	p.E193K	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	577	+			193			Extracellular (Potential).|Cadherin 2.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.577G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	19.50	3.840068	0.71488	.	.	ENSG00000253953	ENST00000519479	T	0.21932	1.98	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42539	0.1207	M	0.79343	2.45	0.43313	D	0.995326	P;P	0.50272	0.627;0.933	B;P	0.53102	0.329;0.718	T	0.44205	-0.9343	9	0.62326	D	0.03	.	18.6543	0.91445	0.0:0.0:1.0:0.0	.	193;193	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	K	193	ENSP00000428288:E193K	ENSP00000428288:E193K	E	+	1	0	PCDHGB4	140748212	1.000000	0.71417	0.265000	0.24526	0.294000	0.27393	9.710000	0.98732	2.468000	0.83385	0.655000	0.94253	GAG		0.443	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		16	55	0	0	0	0	16	55				
ARHGAP26	23092	broad.mit.edu	37	5	142292826	142292826	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:142292826G>T	ENST00000274498.4	+	10	1374	c.996G>T	c.(994-996)aaG>aaT	p.K332N	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.K332N	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	332	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATTGAGAAGAGGTTTTGCT	0.428																																						uc011dbj.1		NA																	0				ovary(1)	1						c.(994-996)AAG>AAT		GTPase regulator associated with the focal							157.0	148.0	151.0					5																	142292826		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142292826G>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.996G>T	5.37:g.142292826G>T	ENSP00000274498:p.Lys332Asn					ARHGAP26_uc003lmt.2_Missense_Mutation_p.K332N|ARHGAP26_uc003lmw.2_Missense_Mutation_p.K332N	p.K332N	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1031	+		all_hematologic(541;0.0416)	332			PH.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.996G>T	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632005	0.87660	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000451259	T;T;T	0.47528	0.84;0.84;0.84	6.17	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.044518	0.85682	D	0.000000	T	0.72195	0.3430	M	0.87827	2.91	0.80722	D	1	P;D	0.76494	0.885;0.999	B;D	0.71870	0.446;0.975	T	0.76397	-0.2974	10	0.87932	D	0	.	15.9972	0.80260	0.065:0.0:0.935:0.0	.	332;332	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	N	332;332;33	ENSP00000274498:K332N;ENSP00000367243:K332N;ENSP00000411571:K33N	ENSP00000274498:K332N	K	+	3	2	ARHGAP26	142273010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.190000	0.58365	2.941000	0.99782	0.655000	0.94253	AAG		0.428	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		15	55	1	0	1.52e-12	3.55e-12	15	55				
SGCD	6444	broad.mit.edu	37	5	156186321	156186321	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:156186321G>C	ENST00000435422.3	+	8	1277	c.790G>C	c.(790-792)Gtc>Ctc	p.V264L	SGCD_ENST00000337851.4_Missense_Mutation_p.V265L	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	264					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGAGATCTGCGTCTGCGCCAA	0.488																																						uc003lwd.3		NA																	0					0						c.(790-792)GTC>CTC		delta-sarcoglycan isoform 3							135.0	130.0	132.0					5																	156186321		1978	4176	6154	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186321G>C	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.790G>C	5.37:g.156186321G>C	ENSP00000403003:p.Val264Leu					SGCD_uc003lwc.3_Missense_Mutation_p.V265L	p.V264L	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1266	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	264			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.790G>C	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316568	0.95655	.	.	ENSG00000170624	ENST00000435422;ENST00000337851	D;D	0.96396	-4.0;-4.0	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.97911	0.9313	M	0.73598	2.24	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.78314	0.991;0.984	D	0.98565	1.0643	10	0.62326	D	0.03	-26.8545	18.5207	0.90951	0.0:0.0:1.0:0.0	.	264;265	Q92629;Q92629-2	SGCD_HUMAN;.	L	264;265	ENSP00000403003:V264L;ENSP00000338343:V265L	ENSP00000338343:V265L	V	+	1	0	SGCD	156118899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.467000	0.80930	2.447000	0.82792	0.655000	0.94253	GTC		0.488	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			23	77	0	0	0	0	23	77				
DOCK2	1794	broad.mit.edu	37	5	169468122	169468122	+	Silent	SNP	G	G	C	rs560979452		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:169468122G>C	ENST00000256935.8	+	37	3809	c.3729G>C	c.(3727-3729)acG>acC	p.T1243T	DOCK2_ENST00000540750.1_Silent_p.T304T|DOCK2_ENST00000520908.1_Silent_p.T735T|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1243	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCCTACACGCTCCTTCTCC	0.502																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3727-3729)ACG>ACC		dedicator of cytokinesis 2							129.0	107.0	114.0					5																	169468122		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169468122G>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3729G>C	5.37:g.169468122G>C						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.T735T	p.T1243T	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		37	3809	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1243			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3729G>C	CCDS4371.1																																																																																				0.502	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		3	23	0	0	0	0	3	23				
ADAMTS2	9509	broad.mit.edu	37	5	178770999	178770999	+	Missense_Mutation	SNP	G	G	T	rs373406403		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:178770999G>T	ENST00000251582.7	-	2	404	c.303C>A	c.(301-303)aaC>aaA	p.N101K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.N101K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	101					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCTCCTCCTCGTTGCCTCCGG	0.711																																						uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(301-303)AAC>AAA		ADAM metallopeptidase with thrombospondin type 1		G	LYS/ASN,LYS/ASN	0,4390		0,0,2195	20.0	25.0	24.0		303,303	-2.0	0.0	5		24	1,8563		0,1,4281	no	missense,missense	ADAMTS2	NM_014244.4,NM_021599.2	94,94	0,1,6476	TT,TG,GG		0.0117,0.0,0.0077	benign,benign	101/1212,101/567	178770999	1,12953	2195	4282	6477	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178770999G>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.303C>A	5.37:g.178770999G>T	ENSP00000251582:p.Asn101Lys					ADAMTS2_uc011dgm.1_Missense_Mutation_p.N101K	p.N101K	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	2	303	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	101						Missense_Mutation	SNP	ENST00000251582.7	37	c.303C>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	5.446	0.267329	0.10294	0.0	1.17E-4	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.58797	0.36;0.31	4.32	-1.98	0.07480	Peptidase M12B, propeptide (1);	1.653120	0.03409	N	0.204540	T	0.28896	0.0717	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.011;0.013	B;B	0.20577	0.017;0.03	T	0.18053	-1.0349	10	0.06236	T	0.91	.	1.3362	0.02145	0.3867:0.1393:0.3323:0.1418	.	101;101	O95450-2;O95450	.;ATS2_HUMAN	K	101	ENSP00000251582:N101K;ENSP00000274609:N101K	ENSP00000251582:N101K	N	-	3	2	ADAMTS2	178703605	0.001000	0.12720	0.040000	0.18447	0.787000	0.44495	0.749000	0.26320	-0.167000	0.10871	0.462000	0.41574	AAC		0.711	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		18	31	1	0	4.97e-08	1.07e-07	18	31				
MAPK9	5601	broad.mit.edu	37	5	179666940	179666940	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:179666940T>C	ENST00000452135.2	-	10	1342	c.1044A>G	c.(1042-1044)gcA>gcG	p.A348A	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Silent_p.A263A|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000455781.1_Silent_p.A348A|MAPK9_ENST00000393360.3_Silent_p.A348A|MAPK9_ENST00000343111.6_Silent_p.A348A			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	348					cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTCTTCAATTGCATGTTCTC	0.348																																						uc003mls.3		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(1042-1044)GCA>GCG		mitogen-activated protein kinase 9 isoform JNK2							201.0	177.0	185.0					5																	179666940		2203	4300	6503	SO:0001819	synonymous_variant	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179666940T>C	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.1044A>G	5.37:g.179666940T>C						MAPK9_uc003mlt.3_Silent_p.A348A|MAPK9_uc010jlc.2_Silent_p.A348A|MAPK9_uc003mlv.3_Silent_p.A348A	p.A348A	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1315	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	348					A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	ENST00000452135.2	37	c.1044A>G	CCDS4453.1																																																																																				0.348	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			13	23	0	0	0	0	13	23				
FLT4	2324	broad.mit.edu	37	5	180043408	180043408	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:180043408G>T	ENST00000261937.6	-	23	3256	c.3178C>A	c.(3178-3180)Cgg>Agg	p.R1060R	FLT4_ENST00000502649.1_Silent_p.R1060R|FLT4_ENST00000393347.3_Silent_p.R1060R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1060	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGATGTCCCGGGCAAGGCCA	0.617																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(3178-3180)CGG>AGG		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						127.0	115.0	119.0					5																	180043408		2203	4300	6503	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180043408G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3178C>A	5.37:g.180043408G>T						FLT4_uc003mlz.3_Silent_p.R1060R	p.R1060R	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	23	3257	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1060			Cytoplasmic (Potential).|Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.3178C>A	CCDS4457.1																																																																																				0.617	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			12	48	1	0	3.07e-06	6.26e-06	12	48				
MBOAT1	154141	broad.mit.edu	37	6	20102580	20102580	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:20102580T>C	ENST00000324607.7	-	13	1589	c.1425A>G	c.(1423-1425)ccA>ccG	p.P475P	MBOAT1_ENST00000541730.1_Silent_p.P326P	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	475					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TATGAGCTTGTGGTTTCATTG	0.353																																						uc003ncx.1		NA																	0					0						c.(1423-1425)CCA>CCG		membrane bound O-acyltransferase domain							115.0	115.0	115.0					6																	20102580		2203	4300	6503	SO:0001819	synonymous_variant	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20102580T>C	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1425A>G	6.37:g.20102580T>C						MBOAT1_uc011dji.1_Silent_p.P326P	p.P475P	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		13	1630	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		475					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	ENST00000324607.7	37	c.1425A>G	CCDS34346.1																																																																																				0.353	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			11	46	0	0	0	0	11	46				
OR5V1	81696	broad.mit.edu	37	6	29323758	29323758	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:29323758C>A	ENST00000377154.1	-	4	514	c.215G>T	c.(214-216)tGc>tTc	p.C72F	OR5V1_ENST00000543825.1_Missense_Mutation_p.C72F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTGGTGTAGCAGATGTCAAT	0.408																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1		NA																	0				ovary(3)|kidney(1)	4						c.(214-216)TGC>TTC		olfactory receptor, family 5, subfamily V,							139.0	133.0	135.0					6																	29323758		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323758C>A		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.215G>T	6.37:g.29323758C>A	ENSP00000366359:p.Cys72Phe						p.C72F	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	297	-			72			Helical; Name=2; (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.215G>T	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705855	0.48412	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.01981	4.52;4.52	4.36	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35585	N	0.003114	T	0.05731	0.0150	M	0.73598	2.24	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.05305	-1.0893	10	0.87932	D	0	-38.0742	13.6336	0.62210	0.1564:0.8436:0.0:0.0	.	72	Q9UGF6	OR5V1_HUMAN	F	72	ENSP00000366359:C72F;ENSP00000443309:C72F	ENSP00000366356:C72F	C	-	2	0	OR5V1	29431737	0.010000	0.17322	0.698000	0.30274	0.855000	0.48748	2.522000	0.45572	1.164000	0.42652	0.536000	0.68110	TGC		0.408	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			25	78	1	0	1.16e-09	2.59e-09	25	78				
MOG	4340	broad.mit.edu	37	6	29641451	29641451	+	IGR	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:29641451C>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.R146T|ZFP57_ENST00000376881.3_Missense_Mutation_p.R126T|ZFP57_ENST00000376883.1_Missense_Mutation_p.R126T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GCCGGCCCCTCTGCATGCAAG	0.557																																						uc011dlw.1		NA																	0				ovary(3)|skin(2)	5						c.(436-438)AGA>ACA		zinc finger protein 57 homolog							117.0	127.0	124.0					6																	29641451		1204	2512	3716	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641451C>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641451C>G						ZFP57_uc003nnl.3_Missense_Mutation_p.R126T	p.R146T	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	588	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.437G>C	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	3.509	-0.100260	0.06967	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05258	3.47;3.68;3.68	3.42	0.543	0.17179	.	1.317190	0.05294	N	0.521740	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B;B	0.19583	0.037;0.037	B;B	0.16289	0.015;0.015	T	0.47799	-0.9089	10	0.18276	T	0.48	.	0.9259	0.01324	0.1855:0.4152:0.1812:0.2182	.	146;126	Q9NU63-3;Q9NU63-2	.;.	T	146;126;126	ENSP00000418259:R146T;ENSP00000366078:R126T;ENSP00000366080:R126T	ENSP00000366078:R126T	R	-	2	0	ZFP57	29749430	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.089000	0.03376	0.093000	0.17368	-0.140000	0.14226	AGA		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		25	84	0	0	0	0	25	84				
KCNK16	83795	broad.mit.edu	37	6	39290287	39290287	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:39290287C>A	ENST00000373229.5	-	1	43	c.30G>T	c.(28-30)tgG>tgT	p.W10C	KCNK16_ENST00000373227.4_Missense_Mutation_p.W10C|KCNK16_ENST00000437525.2_Missense_Mutation_p.W10C|KCNK16_ENST00000425054.2_Missense_Mutation_p.W10C|KCNK16_ENST00000507712.1_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	10					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)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCGGCCACCCCAGCAGCTGC	0.657																																						uc003ooq.2		NA																	0				ovary(2)|skin(1)	3						c.(28-30)TGG>TGT		potassium channel, subfamily K, member 16							18.0	18.0	18.0					6																	39290287		2202	4300	6502	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39290287C>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.30G>T	6.37:g.39290287C>A	ENSP00000362326:p.Trp10Cys					KCNK16_uc003oor.3_Missense_Mutation_p.W10C|KCNK16_uc010jwy.2_Missense_Mutation_p.W10C|KCNK16_uc011dtz.1_Missense_Mutation_p.W10C	p.W10C	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			1	44	-			10			Cytoplasmic (Potential).		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.30G>T	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880686	0.51801	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000373227;ENST00000437525	T;T;T;T	0.17054	2.54;2.5;3.14;2.3	5.56	3.73	0.42828	.	0.540227	0.19165	N	0.121088	T	0.08670	0.0215	M	0.62723	1.935	0.46376	D	0.999011	B;B;B;B	0.14438	0.0;0.001;0.01;0.001	B;B;B;B	0.14023	0.001;0.005;0.01;0.002	T	0.04255	-1.0965	10	0.87932	D	0	.	7.4173	0.27053	0.0:0.7148:0.1402:0.1451	.	10;10;10;10	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	C	10	ENSP00000362326:W10C;ENSP00000391498:W10C;ENSP00000362324:W10C;ENSP00000415375:W10C	ENSP00000362324:W10C	W	-	3	0	KCNK16	39398265	0.462000	0.25791	1.000000	0.80357	0.894000	0.52154	1.438000	0.35002	1.314000	0.45095	0.561000	0.74099	TGG		0.657	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		9	6	1	0	2.18e-05	4.3e-05	9	6				
VEGFA	7422	broad.mit.edu	37	6	43749750	43749750	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:43749750G>A	ENST00000523873.1	+	7	641	c.603G>A	c.(601-603)acG>acA	p.T201T	VEGFA_ENST00000230480.6_Silent_p.T132T|VEGFA_ENST00000417285.2_Silent_p.T340T|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000482630.2_Silent_p.T340T|VEGFA_ENST00000518824.1_Silent_p.T160T|VEGFA_ENST00000425836.2_Silent_p.T364T|VEGFA_ENST00000520948.1_Silent_p.T184T|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000518689.1_Silent_p.T178T|VEGFA_ENST00000372055.4_Silent_p.T381T|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000523125.1_Silent_p.T160T|VEGFA_ENST00000413642.3_Silent_p.T358T|VEGFA_ENST00000523950.1_Silent_p.T160T|VEGFA_ENST00000372067.3_Silent_p.T340T			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	201					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	ATCCGCAGACGTGTAAATGTT	0.493																																						uc003owh.2		NA																	0				ovary(1)|breast(1)	2						c.(1141-1143)ACG>ACA		vascular endothelial growth factor A isoform a	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						108.0	96.0	100.0					6																	43749750		2203	4300	6503	SO:0001819	synonymous_variant	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43749750G>A	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"""vascular endothelial growth factor"""	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.603G>A	6.37:g.43749750G>A						VEGFA_uc003owd.2_Silent_p.T340T|VEGFA_uc003owf.2_Silent_p.T364T|VEGFA_uc003owe.2_Silent_p.T340T|VEGFA_uc003owg.2_Silent_p.T358T|VEGFA_uc003owi.2_Silent_p.T340T|VEGFA_uc003owj.2_Intron|VEGFA_uc010jyx.2_Intron|VEGFA_uc003owk.2_Intron	p.T381T	NM_001025366	NP_001020537	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		7	1634	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		201					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Silent	SNP	ENST00000523873.1	37	c.1143G>A	CCDS55010.1																																																																																				0.493	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		6	28	0	0	0	0	6	28				
ENPP4	22875	broad.mit.edu	37	6	46107690	46107690	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:46107690C>G	ENST00000321037.4	+	2	600	c.370C>G	c.(370-372)Cag>Gag	p.Q124E		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	124					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GGTGACCAATCAGCTTCAGGA	0.413																																						uc003oxy.2		NA																	0				ovary(3)|skin(1)	4						c.(370-372)CAG>GAG		ectonucleotide pyrophosphatase/phosphodiesterase							174.0	160.0	164.0					6																	46107690		2203	4299	6502	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107690C>G	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.370C>G	6.37:g.46107690C>G	ENSP00000318066:p.Gln124Glu						p.Q124E	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			2	629	+			124			Extracellular (Potential).		A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.370C>G	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761142	0.31137	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72505	-0.66	5.97	1.77	0.24775	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.219310	0.49305	N	0.000154	T	0.35248	0.0925	N	0.13003	0.285	0.50313	D	0.999868	B	0.10296	0.003	B	0.15870	0.014	T	0.23261	-1.0193	10	0.13853	T	0.58	-5.6888	18.132	0.89604	0.0:0.5558:0.4442:0.0	.	124	Q9Y6X5	ENPP4_HUMAN	E	124	ENSP00000318066:Q124E	ENSP00000318066:Q124E	Q	+	1	0	ENPP4	46215649	0.988000	0.35896	0.991000	0.47740	0.996000	0.88848	2.268000	0.43338	0.811000	0.34303	0.655000	0.94253	CAG		0.413	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			19	69	0	0	0	0	19	69				
DST	667	broad.mit.edu	37	6	56371281	56371281	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:56371281T>A	ENST00000361203.3	-	72	18471	c.18464A>T	c.(18463-18465)gAg>gTg	p.E6155V	DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.E5940V|DST_ENST00000370769.4_Missense_Mutation_p.E6266V|DST_ENST00000370788.2_Missense_Mutation_p.E4069V|DST_ENST00000244364.6_Missense_Mutation_p.E3852V|DST_ENST00000421834.2_Missense_Mutation_p.E4178V|DST_ENST00000370754.5_Missense_Mutation_p.E6444V|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6155					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)			CTGCATTGCCTCCTCAAGTTT	0.418																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(13066-13068)GAG>GTG		dystonin isoform 2							67.0	66.0	66.0					6																	56371281		1974	4150	6124	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.chr6:56371281T>A	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.18464A>T	6.37:g.56371281T>A	ENSP00000354508:p.Glu6155Val					DST_uc003pcz.3_Missense_Mutation_p.E4178V|DST_uc011dxj.1_Missense_Mutation_p.E4207V|DST_uc011dxk.1_Missense_Mutation_p.E4218V|DST_uc003pcy.3_Missense_Mutation_p.E3852V	p.E4356V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		71	13095	-	Lung NSC(77;0.103)		6264			Spectrin 13.		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.13067A>T		.	.	.	.	.	.	.	.	.	.	T	19.84	3.902743	0.72754	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.57273	0.79;0.79;0.79;0.79;0.79;0.79;0.41	5.57	5.57	0.84162	.	0.127072	0.34725	N	0.003736	T	0.63129	0.2485	M	0.65498	2.005	0.34762	D	0.732858	D;D;D;D;D	0.64830	0.994;0.994;0.988;0.973;0.987	D;D;P;P;P	0.69142	0.95;0.962;0.864;0.867;0.886	T	0.67067	-0.5764	9	0.52906	T	0.07	.	15.7068	0.77588	0.0:0.0:0.0:1.0	.	4178;6266;6444;6264;3852	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	3852;6444;6266;4178;5940;4069;6155	ENSP00000244364:E3852V;ENSP00000359790:E6444V;ENSP00000359805:E6266V;ENSP00000400883:E4178V;ENSP00000393645:E5940V;ENSP00000359824:E4069V;ENSP00000354508:E6155V	ENSP00000244364:E3852V	E	-	2	0	DST	56479240	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.010000	0.88615	2.108000	0.64289	0.477000	0.44152	GAG		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	32	0	0	0	0	5	32				
IMPG1	3617	broad.mit.edu	37	6	76728538	76728538	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:76728538C>A	ENST00000369950.3	-	7	893	c.704G>T	c.(703-705)aGg>aTg	p.R235M	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGCTCCACCCTCTGCTCCTC	0.433																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1		NA																	0				ovary(2)|skin(1)	3						c.(703-705)AGG>ATG		interphotoreceptor matrix proteoglycan 1							94.0	88.0	90.0					6																	76728538		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76728538C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.704G>T	6.37:g.76728538C>A	ENSP00000358966:p.Arg235Met						p.R235M	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			7	834	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	235			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.704G>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	5.811	0.333835	0.11013	.	.	ENSG00000112706	ENST00000369950	T	0.38722	1.12	5.83	3.19	0.36642	SEA (3);	0.338015	0.28317	N	0.015786	T	0.06142	0.0159	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.09292	-1.0681	10	0.41790	T	0.15	.	4.2647	0.10757	0.2572:0.0973:0.0:0.6455	.	235	Q17R60	IMPG1_HUMAN	M	235	ENSP00000358966:R235M	ENSP00000358966:R235M	R	-	2	0	IMPG1	76785258	0.988000	0.35896	0.974000	0.42286	0.012000	0.07955	1.141000	0.31528	1.034000	0.39945	-0.290000	0.09829	AGG		0.433	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		9	27	1	0	0.000274275	0.000509484	9	27				
NUS1	116150	broad.mit.edu	37	6	118015291	118015291	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:118015291G>A	ENST00000368494.3	+	3	808	c.639G>A	c.(637-639)caG>caA	p.Q213Q		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	213					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TAGTAGCCCAGAAGCAAAAGA	0.368																																						uc003pxw.2		NA																	0				central_nervous_system(1)	1						c.(637-639)CAG>CAA		nuclear undecaprenyl pyrophosphate synthase 1							107.0	110.0	109.0					6																	118015291		2203	4300	6503	SO:0001819	synonymous_variant	116150				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr6:118015291G>A	BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"""Nogo-B receptor"", ""transport and golgi organization 14 homolog (Drosophila)"""	610463	"""chromosome 6 open reading frame 68"""	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.639G>A	6.37:g.118015291G>A							p.Q213Q	NM_138459	NP_612468	Q96E22	NGBR_HUMAN		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)	3	856	+		all_cancers(87;0.0395)|all_epithelial(87;0.0301)	213			Cytoplasmic (Potential).		B2RWQ4|O00251	Silent	SNP	ENST00000368494.3	37	c.639G>A	CCDS5118.1																																																																																				0.368	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	NM_138459		5	73	0	0	0	0	5	73				
TBC1D32	221322	broad.mit.edu	37	6	121526220	121526220	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:121526220C>T	ENST00000398212.2	-	22	2620		c.e22+1		TBC1D32_ENST00000398197.2_Intron|TBC1D32_ENST00000275159.6_Splice_Site	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32						cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TAGCATTTTACCTTAGACCAA	0.239																																						uc003pyo.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.e22+1		hypothetical protein LOC221322							48.0	48.0	48.0					6																	121526220		1782	4039	5821	SO:0001630	splice_region_variant	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121526220C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2570+1G>A	6.37:g.121526220C>T						C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc010kej.1_Intron|C6orf170_uc003pyp.1_Splice_Site_p.R376_splice	p.R857_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	22	2638	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Splice_Site	SNP	ENST00000398212.2	37	c.2570_splice	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682765	0.68157	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1967	0.86894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C6orf170	121567919	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	5.853000	0.69496	2.873000	0.98535	0.561000	0.74099	.		0.239	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	Intron	15	36	0	0	0	0	15	36				
GRM1	2911	broad.mit.edu	37	6	146480525	146480525	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:146480525G>T	ENST00000282753.1	+	2	977	c.742G>T	c.(742-744)Gct>Tct	p.A248S	GRM1_ENST00000507907.1_Missense_Mutation_p.A248S|GRM1_ENST00000361719.2_Missense_Mutation_p.A248S|GRM1_ENST00000355289.4_Missense_Mutation_p.A248S|GRM1_ENST00000492807.2_Missense_Mutation_p.A248S|GRM1_ENST00000392299.2_Missense_Mutation_p.A248S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	248					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAAAGAGCTGGCTGCCCAGGA	0.502																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(742-744)GCT>TCT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						109.0	102.0	105.0					6																	146480525		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480525G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.742G>T	6.37:g.146480525G>T	ENSP00000282753:p.Ala248Ser					GRM1_uc010khu.1_Missense_Mutation_p.A248S|GRM1_uc010khv.1_Missense_Mutation_p.A248S|GRM1_uc003qll.2_Missense_Mutation_p.A248S|GRM1_uc011edz.1_Missense_Mutation_p.A248S|GRM1_uc011eea.1_Missense_Mutation_p.A248S	p.A248S	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1212	+		Ovarian(120;0.0387)	248			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.742G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306103	0.81247	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	L	0.46614	1.455	0.80722	D	1	P;D;P;P	0.76494	0.582;0.999;0.635;0.582	B;D;P;B	0.72625	0.331;0.978;0.461;0.331	D	0.84310	0.0510	10	0.25751	T	0.34	.	19.1244	0.93376	0.0:0.0:1.0:0.0	.	248;248;243;248	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	S	248	ENSP00000354896:A248S;ENSP00000376119:A248S;ENSP00000424095:A248S;ENSP00000282753:A248S;ENSP00000347437:A248S;ENSP00000425599:A248S	ENSP00000282753:A248S	A	+	1	0	GRM1	146522218	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.415000	0.97375	2.513000	0.84729	0.655000	0.94253	GCT		0.502	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		17	55	1	0	2.35e-11	5.39e-11	17	55				
TAB2	23118	broad.mit.edu	37	6	149719163	149719163	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:149719163G>A	ENST00000367456.1	+	6	2400	c.1823G>A	c.(1822-1824)tGc>tAc	p.C608Y	TAB2_ENST00000536230.1_Missense_Mutation_p.C576Y|TAB2_ENST00000286332.5_Missense_Mutation_p.C608Y|SUMO4_ENST00000326669.4_5'Flank|TAB2_ENST00000538427.1_Missense_Mutation_p.C608Y			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	608					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GACATTGACTGCTTAACCAAA	0.353																																						uc003qmj.2		NA																	0					0						c.(1822-1824)TGC>TAC		mitogen-activated protein kinase kinase kinase 7							77.0	78.0	78.0					6																	149719163		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149719163G>A	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1823G>A	6.37:g.149719163G>A	ENSP00000356426:p.Cys608Tyr					TAB2_uc011eec.1_Missense_Mutation_p.C576Y|TAB2_uc003qmk.3_RNA|SUMO4_uc003qml.2_5'Flank	p.C608Y	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			5	2001	+			608			Potential.		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1823G>A	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490900	0.64074	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.75704	-0.96;-0.95;-0.95;-0.95	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.83174	-0.0092	10	0.87932	D	0	-7.0068	19.3539	0.94402	0.0:0.0:1.0:0.0	.	576;608	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	Y	576;608;608;608	ENSP00000443206:C576Y;ENSP00000445752:C608Y;ENSP00000356426:C608Y;ENSP00000286332:C608Y	ENSP00000286332:C608Y	C	+	2	0	TAB2	149760856	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	9.088000	0.94132	2.640000	0.89533	0.591000	0.81541	TGC		0.353	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			5	16	0	0	0	0	5	16				
LPA	4018	broad.mit.edu	37	6	161015034	161015034	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:161015034C>T	ENST00000316300.5	-	22	3629	c.3585G>A	c.(3583-3585)atG>atA	p.M1195I	LPA_ENST00000447678.1_Missense_Mutation_p.M1195I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3703	Kringle 11. {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)	AGTGTGGTGTCATAGAGGACC	0.488																																						uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(3583-3585)ATG>ATA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						146.0	147.0	147.0					6																	161015034		2062	4240	6302	SO:0001583	missense	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.chr6:161015034C>T	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.3585G>A	6.37:g.161015034C>T	ENSP00000321334:p.Met1195Ile						p.M1195I	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	23	3705	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3703			Kringle 33.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3585G>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	12.81	2.050625	0.36181	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.66460	-0.21;-0.21	2.56	2.56	0.30785	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.65450	0.2692	M	0.66939	2.045	0.21861	N	0.999509	P	0.50710	0.938	D	0.74023	0.982	T	0.52540	-0.8562	9	0.23302	T	0.38	.	8.6141	0.33820	0.0:1.0:0.0:0.0	.	3703	P08519	APOA_HUMAN	I	1195	ENSP00000321334:M1195I;ENSP00000395608:M1195I	ENSP00000321334:M1195I	M	-	3	0	LPA	160935024	0.976000	0.34144	0.744000	0.31058	0.273000	0.26683	4.146000	0.58072	1.415000	0.47037	0.436000	0.28706	ATG		0.488	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		14	63	0	0	0	0	14	63				
CRHR2	1395	broad.mit.edu	37	7	30706892	30706892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:30706892C>T	ENST00000471646.1	-	3	684	c.267G>A	c.(265-267)tgG>tgA	p.W89*	CRHR2_ENST00000506074.2_Nonsense_Mutation_p.W89*|CRHR2_ENST00000341843.4_Nonsense_Mutation_p.W75*|CRHR2_ENST00000348438.4_Nonsense_Mutation_p.W116*	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	89					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTGAGGCCCACGTCCCAT	0.532																																						uc003tbn.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(265-267)TGG>TGA		corticotropin releasing hormone receptor 2							210.0	161.0	178.0					7																	30706892		2203	4300	6503	SO:0001587	stop_gained	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30706892C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.267G>A	7.37:g.30706892C>T	ENSP00000418722:p.Trp89*					CRHR2_uc010kvw.1_Nonsense_Mutation_p.W89*|CRHR2_uc010kvx.1_Nonsense_Mutation_p.W89*|CRHR2_uc010kvy.1_Intron|CRHR2_uc003tbo.2_Nonsense_Mutation_p.W75*|CRHR2_uc003tbp.2_Nonsense_Mutation_p.W116*	p.W89*	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			3	511	-			89			Extracellular (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Nonsense_Mutation	SNP	ENST00000471646.1	37	c.267G>A	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622388	0.96660	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1336	0.86733	0.0:1.0:0.0:0.0	.	.	.	.	X	89;116;75;89	.	ENSP00000344304:W75X	W	-	3	0	CRHR2	30673417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.539000	0.82063	2.728000	0.93425	0.561000	0.74099	TGG		0.532	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			8	58	0	0	0	0	8	58				
HGF	3082	broad.mit.edu	37	7	81386541	81386541	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:81386541C>T	ENST00000222390.5	-	4	672	c.446G>A	c.(445-447)tGt>tAt	p.C149Y	HGF_ENST00000453411.1_Missense_Mutation_p.C149Y|HGF_ENST00000423064.2_Missense_Mutation_p.C149Y|HGF_ENST00000354224.6_Missense_Mutation_p.C149Y|HGF_ENST00000453018.1_Missense_Mutation_p.C46Y|HGF_ENST00000444829.2_Missense_Mutation_p.C149Y|HGF_ENST00000457544.2_Missense_Mutation_p.C149Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	149	Kringle 1. {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						CCAGGGCTGACATTTGATGCC	0.383																																						uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(445-447)TGT>TAT		hepatocyte growth factor isoform 1							189.0	172.0	178.0					7																	81386541		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.chr7:81386541C>T		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.446G>A	7.37:g.81386541C>T	ENSP00000222390:p.Cys149Tyr					HGF_uc003uhm.2_Missense_Mutation_p.C149Y|HGF_uc003uhn.1_Missense_Mutation_p.C149Y|HGF_uc003uho.1_Missense_Mutation_p.C149Y|HGF_uc003uhp.2_Missense_Mutation_p.C149Y	p.C149Y	NM_000601	NP_000592	P14210	HGF_HUMAN			4	611	-			149			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.446G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369740	0.82573	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018	D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.06	5.06	0.68205	Kringle (5);Kringle-like fold (1);	0.048083	0.85682	D	0.000000	D	0.97971	0.9332	H	0.98754	4.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99847	1.1067	10	0.87932	D	0	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	184;149;149;149;149	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	Y	149;149;149;149;149;149;149;46	ENSP00000222390:C149Y;ENSP00000391238:C149Y;ENSP00000389854:C149Y;ENSP00000408270:C149Y;ENSP00000413829:C149Y;ENSP00000346164:C149Y;ENSP00000395468:C46Y	ENSP00000222390:C149Y	C	-	2	0	HGF	81224477	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.530000	0.73816	2.346000	0.79739	0.655000	0.94253	TGT		0.383	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		16	34	0	0	0	0	16	34				
KIAA1324L	222223	broad.mit.edu	37	7	86569411	86569411	+	Silent	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:86569411T>G	ENST00000450689.2	-	6	947	c.762A>C	c.(760-762)acA>acC	p.T254T	KIAA1324L_ENST00000416314.1_Silent_p.T87T|KIAA1324L_ENST00000444627.1_Silent_p.T254T|KIAA1324L_ENST00000297222.6_Silent_p.T14T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	254						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGAGTATGTTTGTGCCTGATT	0.398																																						uc011kha.1		NA																	0				ovary(6)|skin(1)	7						c.(760-762)ACA>ACC		hypothetical protein LOC222223 isoform 1							153.0	141.0	145.0					7																	86569411		2203	4300	6503	SO:0001819	synonymous_variant	222223					integral to membrane		g.chr7:86569411T>G	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.762A>C	7.37:g.86569411T>G						KIAA1324L_uc003uif.1_Silent_p.T14T|KIAA1324L_uc011kgz.1_Silent_p.T140T|KIAA1324L_uc003uie.2_Silent_p.T87T	p.T254T	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			6	947	-	Esophageal squamous(14;0.0058)		254			Extracellular (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	c.762A>C	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.275260	0.23307	.	.	ENSG00000164659	ENST00000423294	.	.	.	5.9	-0.908	0.10517	.	.	.	.	.	T	0.43500	0.1250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26815	-1.0092	4	.	.	.	.	3.8563	0.08976	0.1001:0.1316:0.4254:0.3428	.	.	.	.	Q	215	.	.	K	-	1	0	KIAA1324L	86407347	0.947000	0.32204	0.998000	0.56505	0.878000	0.50629	-0.008000	0.12788	-0.067000	0.12976	-0.321000	0.08615	AAA		0.398	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		12	43	0	0	0	0	12	43				
AKAP9	10142	broad.mit.edu	37	7	91694575	91694575	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:91694575A>G	ENST00000359028.2	+	26	6269	c.6044A>G	c.(6043-6045)aAg>aGg	p.K2015R	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.K2015R|AKAP9_ENST00000356239.3_Missense_Mutation_p.K2003R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2015	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATTAATGAAGGAAAAACTA	0.299			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(6007-6009)AAG>AGG		A-kinase anchor protein 9 isoform 2							61.0	59.0	60.0					7																	91694575		2202	4300	6502	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91694575A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6044A>G	7.37:g.91694575A>G	ENSP00000351922:p.Lys2015Arg					AKAP9_uc003ulf.2_Missense_Mutation_p.K2003R|AKAP9_uc003uli.2_Missense_Mutation_p.K1626R	p.K2003R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		25	6233	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2015			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.6008A>G		.	.	.	.	.	.	.	.	.	.	A	18.28	3.589128	0.66105	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.03951	3.75;3.76;3.75	5.72	5.72	0.89469	.	0.000000	0.43919	D	0.000514	T	0.17746	0.0426	L	0.56769	1.78	0.50467	D	0.999877	D;P;D	0.89917	1.0;0.946;1.0	D;P;D	0.87578	0.996;0.636;0.998	T	0.02004	-1.1231	10	0.26408	T	0.33	.	16.2962	0.82776	1.0:0.0:0.0:0.0	.	2015;2003;2003	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	R	2003;2015;2015;2015;218	ENSP00000348573:K2003R;ENSP00000351922:K2015R;ENSP00000350813:K2015R	ENSP00000265737:K218R	K	+	2	0	AKAP9	91532511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.269000	0.89878	2.304000	0.77564	0.528000	0.53228	AAG		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		28	27	0	0	0	0	28	27				
GJC3	349149	broad.mit.edu	37	7	99526840	99526840	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:99526840C>A	ENST00000312891.2	-	1	403	c.404G>T	c.(403-405)tGg>tTg	p.W135L	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	135					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CACATAAGCCCAGAGCAGCCT	0.617																																						uc011kjd.1		NA																	0				ovary(1)	1						c.(403-405)TGG>TTG		gap junction protein, gamma 3, 30.2kDa							80.0	85.0	84.0					7																	99526840		2203	4300	6503	SO:0001583	missense	349149					connexon complex|integral to membrane		g.chr7:99526840C>A	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.404G>T	7.37:g.99526840C>A	ENSP00000325775:p.Trp135Leu						p.W135L	NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN			1	404	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		135			Helical; (Potential).		A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	c.404G>T	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659028	0.29515	.	.	ENSG00000176402	ENST00000312891	D	0.97688	-4.49	4.77	4.77	0.60923	.	0.192781	0.26058	N	0.026589	D	0.92668	0.7670	N	0.08118	0	0.40207	D	0.977583	P	0.42827	0.791	B	0.37650	0.255	D	0.93371	0.6735	10	0.38643	T	0.18	.	15.6948	0.77488	0.0:1.0:0.0:0.0	.	135	Q8NFK1	CXG3_HUMAN	L	135	ENSP00000325775:W135L	ENSP00000325775:W135L	W	-	2	0	GJC3	99364776	0.999000	0.42202	1.000000	0.80357	0.365000	0.29674	1.683000	0.37638	2.639000	0.89480	0.655000	0.94253	TGG		0.617	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		35	208	1	0	1.22e-08	2.67e-08	35	208				
AZGP1	563	broad.mit.edu	37	7	99565930	99565930	+	Nonsense_Mutation	SNP	C	C	T	rs145427176		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:99565930C>T	ENST00000292401.4	-	3	597	c.461G>A	c.(460-462)tGg>tAg	p.W154*	AZGP1_ENST00000411734.1_Nonsense_Mutation_p.W151*|AZGP1_ENST00000483612.1_5'Flank	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	154					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)	p.W154S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAAGGGGACCCAGGCTGGGAT	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15457	0.0		0.0	False		,,,				2504	0.0					uc003ush.2		NA																	1	Substitution - Missense(1)	p.W154S(1)	ovary(1)	ovary(1)|central_nervous_system(1)	2						c.(460-462)TGG>TAG		alpha-2-glycoprotein 1, zinc		C	stop/TRP	3,4403	6.2+/-15.9	0,3,2200	131.0	139.0	136.0		461	2.8	0.8	7	dbSNP_134	136	0,8600		0,0,4300	yes	stop-gained	AZGP1	NM_001185.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		154/299	99565930	3,13003	2203	4300	6503	SO:0001587	stop_gained	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565930C>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.461G>A	7.37:g.99565930C>T	ENSP00000292401:p.Trp154*						p.W154*	NM_001185	NP_001176	P25311	ZA2G_HUMAN			3	505	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		154					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Nonsense_Mutation	SNP	ENST00000292401.4	37	c.461G>A	CCDS5680.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.139	1.013447	0.19277	6.81E-4	0.0	ENSG00000160862	ENST00000292401;ENST00000411734	.	.	.	2.76	2.76	0.32466	.	0.000000	0.30538	U	0.009404	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2038	0.20591	0.0:0.8439:0.0:0.1561	.	.	.	.	X	154;151	.	ENSP00000292401:W154X	W	-	2	0	AZGP1	99403866	1.000000	0.71417	0.764000	0.31436	0.078000	0.17371	2.671000	0.46842	1.464000	0.47987	0.313000	0.20887	TGG		0.507	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		49	274	0	0	0	0	49	274				
NYAP1	222950	broad.mit.edu	37	7	100086152	100086152	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:100086152G>A	ENST00000300179.2	+	4	967	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	NYAP1_ENST00000423930.1_Missense_Mutation_p.E270K|NYAP1_ENST00000454988.1_Missense_Mutation_p.E213K	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	270					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCCGCTGCCGGAAGAGGCTGG	0.687																																						uc003uvd.1		NA																	0				skin(1)	1						c.(808-810)GAA>AAA		hypothetical protein FLJ37538							32.0	39.0	37.0					7																	100086152		2198	4276	6474	SO:0001583	missense	222950							g.chr7:100086152G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.808G>A	7.37:g.100086152G>A	ENSP00000300179:p.Glu270Lys					C7orf51_uc003uve.1_Missense_Mutation_p.E52K	p.E270K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			4	967	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		270					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.808G>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953147	0.53293	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.55413	0.52;0.52;0.52	4.62	3.71	0.42584	.	0.123602	0.36703	N	0.002450	T	0.63698	0.2533	L	0.46157	1.445	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	T	0.64275	-0.6446	10	0.52906	T	0.07	-12.8636	12.2209	0.54433	0.0:0.1734:0.8266:0.0	.	213;270	C9JS30;Q6ZVC0	.;CG051_HUMAN	K	270;270;213	ENSP00000300179:E270K;ENSP00000411861:E270K;ENSP00000394424:E213K	ENSP00000300179:E270K	E	+	1	0	C7orf51	99924088	1.000000	0.71417	0.800000	0.32199	0.669000	0.39330	8.601000	0.90864	1.126000	0.42016	0.407000	0.27541	GAA		0.687	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		16	87	0	0	0	0	16	87				
LRRN3	54674	broad.mit.edu	37	7	110763775	110763775	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:110763775C>T	ENST00000422987.3	+	2	1778	c.947C>T	c.(946-948)gCt>gTt	p.A316V	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.A316V|LRRN3_ENST00000308478.5_Missense_Mutation_p.A316V|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	316					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAATAGAAGCTACTAACAAC	0.418																																						uc003vft.3		NA																	0				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(946-948)GCT>GTT		leucine rich repeat neuronal 3 precursor							83.0	86.0	85.0					7																	110763775		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110763775C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.947C>T	7.37:g.110763775C>T	ENSP00000412417:p.Ala316Val					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.A316V|LRRN3_uc003vfs.3_Missense_Mutation_p.A316V	p.A316V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1993	+			316			Extracellular (Potential).|LRR 11.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.947C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066274	0.36470	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.55413	0.52;0.52;0.52	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000010	T	0.47801	0.1465	N	0.04705	-0.18	0.58432	D	0.999999	D	0.52996	0.957	P	0.52823	0.71	T	0.54456	-0.8291	10	0.45353	T	0.12	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	316	Q9H3W5	LRRN3_HUMAN	V	316	ENSP00000312001:A316V;ENSP00000397312:A316V;ENSP00000412417:A316V	ENSP00000312001:A316V	A	+	2	0	LRRN3	110551011	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.823000	0.97156	0.650000	0.86243	GCT		0.418	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		19	42	0	0	0	0	19	42				
C7orf60	154743	broad.mit.edu	37	7	112462106	112462106	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:112462106C>T	ENST00000297145.4	-	5	1076	c.911G>A	c.(910-912)cGc>cAc	p.R304H	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	304							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTACTTGAAGCGTTTAAAGCC	0.398																																						uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.(910-912)CGC>CAC		hypothetical protein LOC154743							95.0	84.0	87.0					7																	112462106		1829	4091	5920	SO:0001583	missense	154743							g.chr7:112462106C>T		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.911G>A	7.37:g.112462106C>T	ENSP00000297145:p.Arg304His					C7orf60_uc011kms.1_Missense_Mutation_p.R330H	p.R304H	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			5	1038	-			304					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.911G>A	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213506	0.79352	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.92	5.92	0.95590	.	0.091054	0.85682	D	0.000000	D	0.84483	0.5482	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85499	0.1190	9	0.87932	D	0	-2.0268	20.327	0.98704	0.0:1.0:0.0:0.0	.	251;304	B4DST1;Q1RMZ1	.;CG060_HUMAN	H	304;286;251	.	ENSP00000297145:R304H	R	-	2	0	C7orf60	112249342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.794000	0.96219	0.650000	0.86243	CGC		0.398	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		15	39	0	0	0	0	15	39				
POT1	25913	broad.mit.edu	37	7	124482972	124482972	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:124482972A>G	ENST00000357628.3	-	13	1650	c.1052T>C	c.(1051-1053)aTt>aCt	p.I351T	POT1_ENST00000393329.1_Missense_Mutation_p.I220T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	351					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTGTTTCAAAATGGCACATAG	0.348																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NA																	0				central_nervous_system(1)	1						c.(1051-1053)ATT>ACT		protection of telomeres 1 isoform 1							121.0	105.0	110.0					7																	124482972		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124482972A>G	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1052T>C	7.37:g.124482972A>G	ENSP00000350249:p.Ile351Thr					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.I220T|POT1_uc003vln.2_RNA	p.I351T	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			13	1653	-			351					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.1052T>C	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548564	0.65311	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	T;T	0.56275	0.47;0.49	5.62	5.62	0.85841	.	0.246090	0.39985	N	0.001212	T	0.55909	0.1950	M	0.67953	2.075	0.38535	D	0.949079	P	0.51449	0.945	B	0.44044	0.439	T	0.66551	-0.5895	10	0.87932	D	0	-12.2174	14.631	0.68655	1.0:0.0:0.0:0.0	.	351	Q9NUX5	POTE1_HUMAN	T	351;220;351;351;350	ENSP00000350249:I351T;ENSP00000377002:I220T	ENSP00000265391:I350T	I	-	2	0	POT1	124270208	0.998000	0.40836	0.994000	0.49952	0.973000	0.67179	6.661000	0.74422	2.133000	0.65898	0.482000	0.46254	ATT		0.348	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			5	32	0	0	0	0	5	32				
OR2A25	392138	broad.mit.edu	37	7	143771537	143771537	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:143771537C>A	ENST00000408898.2	+	1	263	c.225C>A	c.(223-225)agC>agA	p.S75R		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	75			S -> N (in dbSNP:rs6951485). {ECO:0000269|PubMed:12690205}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GTGCTTGCAGCACGGTGCCCC	0.557																																						uc011ktx.1		NA																	0					0						c.(223-225)AGC>AGA		olfactory receptor, family 2, subfamily A,							80.0	82.0	81.0					7																	143771537		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771537C>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.225C>A	7.37:g.143771537C>A	ENSP00000386167:p.Ser75Arg						p.S75R	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	225	+	Melanoma(164;0.0783)		75			Helical; Name=2; (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.225C>A	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442426	0.25987	.	.	ENSG00000221933	ENST00000408898	T	0.00433	7.43	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	M	0.90082	3.085	0.09310	N	0.999998	B	0.19200	0.034	B	0.12156	0.007	T	0.38693	-0.9649	9	0.87932	D	0	-3.3808	9.0248	0.36222	0.0:0.9022:0.0:0.0978	.	75	A4D2G3	O2A25_HUMAN	R	75	ENSP00000386167:S75R	ENSP00000386167:S75R	S	+	3	2	OR2A25	143402470	0.000000	0.05858	0.998000	0.56505	0.222000	0.24845	0.872000	0.28037	2.531000	0.85337	0.563000	0.77884	AGC		0.557	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			37	44	1	0	3.63e-18	8.73e-18	37	44				
SSPO	23145	broad.mit.edu	37	7	149481149	149481149	+	RNA	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:149481149C>G	ENST00000378016.2	+	0	2631							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCCCCCCAGCTTGTGCC	0.657																																						uc010lpk.2		NA																	0					0						c.(2629-2631)CCC>CCG		SCO-spondin precursor							28.0	35.0	33.0					7																	149481149		2008	4164	6172			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149481149C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481149C>G						SSPO_uc010lpl.1_Silent_p.P212P	p.P877P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	2631	+	Melanoma(164;0.165)|Ovarian(565;0.177)		877			TIL 2.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.2631C>G																																																																																					0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	14	0	0	0	0	3	14				
GIMAP8	155038	broad.mit.edu	37	7	150174635	150174635	+	Missense_Mutation	SNP	C	C	T	rs139453539	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:150174635C>T	ENST00000307271.3	+	5	2339	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	589	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.R589C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCCCTTCGGCGCATTTTTAA	0.463																																						uc003whj.2		NA																	1	Substitution - Missense(1)	p.R589H(1)	large_intestine(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1765-1767)CGC>TGC		GTPase, IMAP family member 8		C	CYS/ARG	0,4406		0,0,2203	71.0	82.0	79.0		1765	-2.4	0.0	7	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	no	missense	GIMAP8	NM_175571.2	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	589/666	150174635	2,13004	2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174635C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1765C>T	7.37:g.150174635C>T	ENSP00000305107:p.Arg589Cys						p.R589C	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2095	+			589						Missense_Mutation	SNP	ENST00000307271.3	37	c.1765C>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321059	0.23994	0.0	2.33E-4	ENSG00000171115	ENST00000307271	T	0.06142	3.34	4.44	-2.36	0.06663	AIG1 (1);	2.070020	0.02112	N	0.054914	T	0.08891	0.0220	L	0.46157	1.445	0.09310	N	1	P	0.46327	0.876	P	0.45138	0.471	T	0.32508	-0.9904	10	0.59425	D	0.04	.	5.262	0.15578	0.4635:0.1613:0.3752:0.0	.	589	Q8ND71	GIMA8_HUMAN	C	589	ENSP00000305107:R589C	ENSP00000305107:R589C	R	+	1	0	GIMAP8	149805568	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.608000	0.05641	-0.282000	0.09128	-0.986000	0.02555	CGC		0.463	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		16	83	0	0	0	0	16	83				
HTR5A	3361	broad.mit.edu	37	7	154875975	154875975	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:154875975C>G	ENST00000287907.2	+	2	1428	c.852C>G	c.(850-852)gcC>gcG	p.A284A	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	284					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	AGCGGGCCGCCCTCATGGTGG	0.637																																						uc003wlu.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(850-852)GCC>GCG		5-hydroxytryptamine receptor 5A							151.0	121.0	131.0					7																	154875975		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875975C>G		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.852C>G	7.37:g.154875975C>G							p.A284A	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	916	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	284			Helical; Name=6; (By similarity).		Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.852C>G	CCDS5936.1																																																																																				0.637	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		24	45	0	0	0	0	24	45				
DLGAP2	9228	broad.mit.edu	37	8	1497072	1497072	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:1497072G>T	ENST00000421627.2	+	2	347	c.213G>T	c.(211-213)gtG>gtT	p.V71V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	150					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCCGGTGGTGCTGGGCGACC	0.721																																						uc003wpl.2		NA																	0					0						c.(211-213)GTG>GTT		discs large-associated protein 2							14.0	16.0	15.0					8																	1497072		2132	4213	6345	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497072G>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.213G>T	8.37:g.1497072G>T						DLGAP2_uc003wpm.2_Silent_p.V71V	p.V71V	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	310	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	150					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.213G>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177202	0.21787	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.34	4.44	0.53790	.	.	.	.	.	T	0.54759	0.1878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52533	-0.8563	4	.	.	.	-2.0508	5.3523	0.16042	0.0824:0.1443:0.6241:0.1491	.	.	.	.	F	88	.	.	C	+	2	0	DLGAP2	1484479	1.000000	0.71417	0.733000	0.30861	0.936000	0.57629	1.342000	0.33919	1.198000	0.43158	0.561000	0.74099	TGC		0.721	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	18	1	0	1.24e-05	2.47e-05	4	18				
ANGPT2	285	broad.mit.edu	37	8	6378820	6378820	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:6378820G>A	ENST00000325203.5	-	4	1152	c.678C>T	c.(676-678)atC>atT	p.I226I	ANGPT2_ENST00000415216.1_Silent_p.I226I|ANGPT2_ENST00000338312.6_Silent_p.I174I|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Silent_p.I226I			O15123	ANGP2_HUMAN	angiopoietin 2	226					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTTCTTCAATGATGGAATTTT	0.373																																						uc003wqj.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(676-678)ATC>ATT		angiopoietin 2 isoform a precursor							188.0	174.0	179.0					8																	6378820		2203	4300	6503	SO:0001819	synonymous_variant	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378820G>A	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.678C>T	8.37:g.6378820G>A						MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.I226I|ANGPT2_uc010lri.2_Silent_p.I174I|ANGPT2_uc003wql.3_Silent_p.I226I	p.I226I	NM_001147	NP_001138	O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1007	-		Hepatocellular(245;0.0663)	226			Potential.		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Silent	SNP	ENST00000325203.5	37	c.678C>T	CCDS5958.1																																																																																				0.373	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		8	42	0	0	0	0	8	42				
FAM160B2	64760	broad.mit.edu	37	8	21957263	21957263	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:21957263G>C	ENST00000289921.7	+	10	1246	c.1200G>C	c.(1198-1200)ctG>ctC	p.L400L		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	400										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCCATGCTGCGCCAGCTTC	0.672																																						uc011kyx.1		NA																	0					0						c.(1198-1200)CTG>CTC		retinoic acid induced 16							47.0	53.0	51.0					8																	21957263		2093	4220	6313	SO:0001819	synonymous_variant	64760							g.chr8:21957263G>C	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1200G>C	8.37:g.21957263G>C						FAM160B2_uc011kyy.1_RNA	p.L400L	NM_022749	NP_073586	Q86V87	F16B2_HUMAN			10	1251	+			400					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Silent	SNP	ENST00000289921.7	37	c.1200G>C	CCDS6021.2																																																																																				0.672	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			11	38	0	0	0	0	11	38				
ADAM7	8756	broad.mit.edu	37	8	24334017	24334017	+	Splice_Site	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:24334017G>A	ENST00000175238.6	+	8	788	c.705G>A	c.(703-705)atG>atA	p.M235I	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Splice_Site_p.M7I|ADAM7_ENST00000380789.1_Splice_Site_p.M235I	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	235	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGTCAACATGGTAAGATTTG	0.343																																						uc003xeb.2		NA																	0				skin(3)|ovary(1)|kidney(1)	5						c.(703-705)ATG>ATA		a disintegrin and metalloproteinase domain 7							95.0	91.0	92.0					8																	24334017		2203	4300	6503	SO:0001630	splice_region_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24334017G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.705+1G>A	8.37:g.24334017G>A						ADAM7_uc003xec.2_Missense_Mutation_p.M7I	p.M235I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	8	818	+		Prostate(55;0.0181)	235			Peptidase M12B.|Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.705G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580522	0.65992	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.63096	-0.02;-0.02;-0.02	5.38	5.38	0.77491	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.083689	0.51477	D	0.000084	T	0.59742	0.2216	L	0.58101	1.795	0.80722	D	1	P;P	0.43578	0.811;0.811	B;B	0.40602	0.334;0.334	T	0.61212	-0.7108	10	0.38643	T	0.18	.	14.9792	0.71299	0.0:0.0:1.0:0.0	.	7;235	E5RK87;Q9H2U9	.;ADAM7_HUMAN	I	235;235;7;50	ENSP00000175238:M235I;ENSP00000370166:M235I;ENSP00000430400:M7I	ENSP00000175238:M235I	M	+	3	0	ADAM7	24389907	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.931000	0.63469	2.697000	0.92050	0.591000	0.81541	ATG		0.343	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	Missense_Mutation	6	19	0	0	0	0	6	19				
ADAM7	8756	broad.mit.edu	37	8	24358343	24358343	+	Silent	SNP	C	C	T	rs149009178		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:24358343C>T	ENST00000175238.6	+	19	2126	c.2043C>T	c.(2041-2043)gtC>gtT	p.V681V	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Silent_p.V453V|ADAM7_ENST00000380789.1_Silent_p.V681V|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	681						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGGTTATTGTCGGTATCGGAG	0.378																																						uc003xeb.2		NA																	0				skin(3)|ovary(1)|kidney(1)	5						c.(2041-2043)GTC>GTT		a disintegrin and metalloproteinase domain 7		C		0,4406		0,0,2203	340.0	271.0	295.0		2043	-6.8	0.0	8	dbSNP_134	295	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAM7	NM_003817.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		681/755	24358343	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24358343C>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.2043C>T	8.37:g.24358343C>T						ADAM7_uc003xec.2_Silent_p.V453V	p.V681V	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	19	2156	+		Prostate(55;0.0181)	681			Helical; (Potential).		A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.2043C>T	CCDS6045.1																																																																																				0.378	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		16	70	0	0	0	0	16	70				
ADRA1A	148	broad.mit.edu	37	8	26628171	26628171	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:26628171G>T	ENST00000519229.1	-	2	902	c.896C>A	c.(895-897)cCt>cAt	p.P299H	ADRA1A_ENST00000380573.3_Missense_Mutation_p.P299H|ADRA1A_ENST00000276393.4_Missense_Mutation_p.P299H|ADRA1A_ENST00000380586.1_Missense_Mutation_p.P299H|ADRA1A_ENST00000380582.3_Missense_Mutation_p.P299H|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.P299H|ADRA1A_ENST00000380587.1_Intron			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	375					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTTGAAATCAGGGAAGAAAGA	0.393																																						uc003xfh.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(895-897)CCT>CAT		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						40.0	44.0	42.0					8																	26628171		2183	4295	6478	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26628171G>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.896C>A	8.37:g.26628171G>T	ENSP00000430793:p.Pro299His					ADRA1A_uc003xfc.1_Missense_Mutation_p.P299H|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.P299H|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.P299H	p.P299H	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1332	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	299			Extracellular (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.896C>A		.	.	.	.	.	.	.	.	.	.	G	22.8	4.331602	0.81690	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.064893	0.64402	D	0.000007	T	0.67543	0.2904	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.996;0.994	D;P;P;D	0.70935	0.971;0.879;0.855;0.957	T	0.68988	-0.5264	10	0.66056	D	0.02	.	19.7442	0.96245	0.0:0.0:1.0:0.0	.	299;299;299;299	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	H	299	ENSP00000369960:P299H;ENSP00000369956:P299H;ENSP00000430793:P299H;ENSP00000346557:P299H;ENSP00000276393:P299H;ENSP00000369947:P299H	ENSP00000276393:P299H	P	-	2	0	ADRA1A	26684088	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.837000	0.99465	2.770000	0.95276	0.655000	0.94253	CCT		0.393	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		12	58	1	0	5.51e-06	1.11e-05	12	58				
LETM2	137994	broad.mit.edu	37	8	38258566	38258566	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:38258566G>A	ENST00000379957.4	+	6	1106	c.979G>A	c.(979-981)Gat>Aat	p.D327N	LETM2_ENST00000524874.1_Missense_Mutation_p.D279N|LETM2_ENST00000523983.2_Missense_Mutation_p.D280N|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Missense_Mutation_p.D113N|LETM2_ENST00000297720.5_Missense_Mutation_p.D232N|RP11-350N15.3_ENST00000533301.1_RNA	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	327	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AAAAGCAGATGATGAAGTAAG	0.438																																						uc003xlm.1		NA																	0					0						c.(838-840)GAT>AAT		leucine zipper-EF-hand containing transmembrane							49.0	50.0	50.0					8																	38258566		2203	4300	6503	SO:0001583	missense	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38258566G>A	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.979G>A	8.37:g.38258566G>A	ENSP00000369291:p.Asp327Asn					LETM2_uc011lbn.1_Missense_Mutation_p.D124N|LETM2_uc003xll.1_Missense_Mutation_p.D232N|LETM2_uc003xln.1_Missense_Mutation_p.D124N|LETM2_uc003xlo.1_Missense_Mutation_p.D124N	p.D280N	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		6	1009	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	327			LETM1.|Mitochondrial matrix (Potential).		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37	c.838G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.599056	0.96614	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	6.04	6.04	0.98038	LETM1-like (1);	0.000000	0.85682	D	0.000000	D	0.89856	0.6836	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91677	0.5355	10	0.87932	D	0	-15.0806	20.5792	0.99380	0.0:0.0:1.0:0.0	.	124;327;279	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	N	232;279;327;280;113	ENSP00000297720:D232N;ENSP00000431211:D279N;ENSP00000369291:D327N;ENSP00000428765:D280N;ENSP00000434867:D113N	ENSP00000297720:D232N	D	+	1	0	LETM2	38377723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.873000	0.98535	0.561000	0.74099	GAT		0.438	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		32	46	0	0	0	0	32	46				
ADAM32	203102	broad.mit.edu	37	8	39022556	39022556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:39022556C>T	ENST00000379907.4	+	9	801	c.674C>T	c.(673-675)aCc>aTc	p.T225I	ADAM32_ENST00000519315.1_Missense_Mutation_p.T225I|ADAM32_ENST00000437682.2_Missense_Mutation_p.T232I	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	225	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TAGATGTTCACCCAATTTAAA	0.294																																						uc003xmt.3		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(673-675)ACC>ATC		a disintegrin and metalloprotease domain 32							131.0	117.0	121.0					8																	39022556		1791	4065	5856	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39022556C>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.674C>T	8.37:g.39022556C>T	ENSP00000369238:p.Thr225Ile					ADAM32_uc011lch.1_Missense_Mutation_p.T232I|ADAM32_uc003xmu.3_Missense_Mutation_p.T225I	p.T225I	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		9	919	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	225			Peptidase M12B.|Extracellular (Potential).		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.674C>T	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	7.068	0.567639	0.13560	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907;ENST00000399826	T;T;T	0.63580	-0.05;-0.05;-0.05	5.29	-0.0938	0.13647	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.558034	0.13521	N	0.381712	T	0.44829	0.1312	L	0.28054	0.825	0.09310	N	1	B;B;B	0.26845	0.117;0.161;0.155	B;B;B	0.36092	0.156;0.217;0.217	T	0.36939	-0.9727	10	0.33940	T	0.23	.	2.038	0.03544	0.2661:0.4435:0.13:0.1604	.	232;225;225	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	I	232;225;225;226	ENSP00000405978:T232I;ENSP00000429422:T225I;ENSP00000369238:T225I	ENSP00000369238:T225I	T	+	2	0	ADAM32	39141713	0.005000	0.15991	0.006000	0.13384	0.106000	0.19336	0.307000	0.19296	0.038000	0.15604	0.561000	0.74099	ACC		0.294	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		20	60	0	0	0	0	20	60				
CSPP1	79848	broad.mit.edu	37	8	68044264	68044264	+	Silent	SNP	G	G	A	rs201940935		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:68044264G>A	ENST00000262210.5	+	14	1792	c.1761G>A	c.(1759-1761)ccG>ccA	p.P587P	CSPP1_ENST00000412460.1_Silent_p.P293P	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	622					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGATAAACCGAAACCTTCCA	0.353																																						uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(1864-1866)CCG>CCA		centrosome spindle pole associated protein 1							132.0	125.0	127.0					8																	68044264		1870	4106	5976	SO:0001819	synonymous_variant	79848					centrosome|microtubule|spindle		g.chr8:68044264G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1761G>A	8.37:g.68044264G>A						CSPP1_uc003xxg.1_Silent_p.P614P|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.P587P|CSPP1_uc003xxk.2_Silent_p.P293P	p.P622P	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		16	1897	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	622					A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	c.1866G>A	CCDS43744.1																																																																																				0.353	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		11	60	0	0	0	0	11	60				
EYA1	2138	broad.mit.edu	37	8	72211956	72211956	+	Splice_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:72211956C>A	ENST00000340726.3	-	8	1196		c.e8-1		EYA1_ENST00000388742.4_Splice_Site|EYA1_ENST00000388741.2_Splice_Site|EYA1_ENST00000303824.7_Splice_Site|EYA1_ENST00000388740.3_Splice_Site|EYA1_ENST00000419131.1_Splice_Site|EYA1_ENST00000388743.2_Splice_Site	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1						anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AAACTGCTACCTAAAACAAAA	0.323																																						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.e7-1		eyes absent 1 isoform b							89.0	97.0	94.0					8																	72211956		2201	4299	6500	SO:0001630	splice_region_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211956C>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.557-1G>T	8.37:g.72211956C>A						EYA1_uc003xyr.3_Splice_Site_p.G181_splice|EYA1_uc003xyt.3_Splice_Site_p.G153_splice|EYA1_uc010lzf.2_Splice_Site_p.G113_splice|EYA1_uc003xyu.2_Splice_Site_p.G186_splice|EYA1_uc011lfe.1_Splice_Site_p.G180_splice|EYA1_uc003xyv.2_Splice_Site_p.G64_splice	p.G186_splice	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		7	844	-	Breast(64;0.046)							A6NHQ0|G5E9R4|Q0P516|Q8WX80	Splice_Site	SNP	ENST00000340726.3	37	c.557_splice	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012565	0.75161	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EYA1	72374510	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.444000	0.80532	2.694000	0.91930	0.585000	0.79938	.		0.323	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	Intron	21	87	1	0	2.46e-09	5.46e-09	21	87				
KCNB2	9312	broad.mit.edu	37	8	73480118	73480118	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:73480118G>T	ENST00000523207.1	+	2	737	c.149G>T	c.(148-150)tGg>tTg	p.W50L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	50					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAAGTCCTGTGGAGAACGCTG	0.557																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(148-150)TGG>TTG		potassium voltage-gated channel, Shab-related							77.0	78.0	78.0					8																	73480118		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480118G>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.149G>T	8.37:g.73480118G>T	ENSP00000430846:p.Trp50Leu						p.W50L	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	737	+	Breast(64;0.137)		50			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.149G>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001652	0.93227	.	.	ENSG00000182674	ENST00000523207	T	0.75704	-0.96	5.58	5.58	0.84498	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.83018	0.5163	L	0.51914	1.62	0.80722	D	1	D	0.60160	0.987	D	0.71656	0.974	T	0.79938	-0.1592	9	0.32370	T	0.25	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	50	Q92953	KCNB2_HUMAN	L	50	ENSP00000430846:W50L	ENSP00000430846:W50L	W	+	2	0	KCNB2	73642672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.641000	0.89580	0.563000	0.77884	TGG		0.557	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		41	87	1	0	8.48e-28	2.1e-27	41	87				
ZC2HC1A	51101	broad.mit.edu	37	8	79598715	79598715	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:79598715A>G	ENST00000263849.4	+	4	326	c.224A>G	c.(223-225)aAg>aGg	p.K75R	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	75							metal ion binding (GO:0046872)										GAACCACCAAAGAAACCATCT	0.318																																						uc003ybd.2		NA																	0				ovary(1)	1						c.(223-225)AAG>AGG		hypothetical protein LOC51101							46.0	41.0	42.0					8																	79598715		2202	4300	6502	SO:0001583	missense	51101							g.chr8:79598715A>G		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.224A>G	8.37:g.79598715A>G	ENSP00000263849:p.Lys75Arg						p.K75R	NM_016010	NP_057094	Q96GY0	F164A_HUMAN			4	326	+			75					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.224A>G	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032709	0.75504	.	.	ENSG00000104427	ENST00000263849	T	0.52057	0.68	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.58521	-0.7622	9	.	.	.	-13.4973	15.6292	0.76888	1.0:0.0:0.0:0.0	.	75	Q96GY0	F164A_HUMAN	R	75	ENSP00000263849:K75R	.	K	+	2	0	FAM164A	79761270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.625000	0.90965	2.154000	0.67381	0.477000	0.44152	AAG		0.318	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		3	9	0	0	0	0	3	9				
GEM	2669	broad.mit.edu	37	8	95272561	95272561	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:95272561G>T	ENST00000297596.2	-	2	435	c.171C>A	c.(169-171)agC>agA	p.S57R	GEM_ENST00000396194.2_Missense_Mutation_p.S57R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	57					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGAGGACCAGCTTCGGCGGC	0.602																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygj.2		NA																	0				lung(1)	1						c.(169-171)AGC>AGA		GTP-binding mitogen-induced T-cell protein							92.0	86.0	88.0					8																	95272561		2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95272561G>T		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.171C>A	8.37:g.95272561G>T	ENSP00000297596:p.Ser57Arg					GEM_uc003ygi.2_Missense_Mutation_p.S57R	p.S57R	NM_005261	NP_005252	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		2	420	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	57					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.171C>A	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515747	0.44763	.	.	ENSG00000164949	ENST00000396194;ENST00000297596;ENST00000523433	T;T;T	0.66280	-0.2;-0.2;1.12	5.48	4.59	0.56863	.	0.083656	0.85682	D	0.000000	T	0.58949	0.2158	M	0.68952	2.095	0.80722	D	1	B	0.26120	0.142	B	0.15870	0.014	T	0.58741	-0.7583	10	0.37606	T	0.19	.	14.6614	0.68873	0.0708:0.0:0.9292:0.0	.	57	P55040	GEM_HUMAN	R	57	ENSP00000379497:S57R;ENSP00000297596:S57R;ENSP00000428258:S57R	ENSP00000297596:S57R	S	-	3	2	GEM	95341737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.356000	0.66052	2.576000	0.86940	0.655000	0.94253	AGC		0.602	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		8	71	1	0	5.18e-06	1.05e-05	8	71				
GDF6	392255	broad.mit.edu	37	8	97156802	97156802	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:97156802C>T	ENST00000287020.5	-	2	1456	c.1357G>A	c.(1357-1359)Ggc>Agc	p.G453S		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	453					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TACCTGCAGCCGCACGACTCC	0.622																																						uc003yhp.2		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1357-1359)GGC>AGC		growth differentiation factor 6 precursor							29.0	33.0	31.0					8																	97156802		2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97156802C>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1357G>A	8.37:g.97156802C>T	ENSP00000287020:p.Gly453Ser						p.G453S	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			2	1457	-	Breast(36;2.67e-05)		453					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.1357G>A	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243428	0.95272	.	.	ENSG00000156466	ENST00000287020	D	0.86432	-2.12	5.09	5.09	0.68999	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93906	0.8050	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94432	0.7650	10	0.72032	D	0.01	.	18.3175	0.90226	0.0:1.0:0.0:0.0	.	453	Q6KF10	GDF6_HUMAN	S	453	ENSP00000287020:G453S	ENSP00000287020:G453S	G	-	1	0	GDF6	97225978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.549000	0.82163	2.648000	0.89879	0.650000	0.86243	GGC		0.622	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		5	15	0	0	0	0	5	15				
VPS13B	157680	broad.mit.edu	37	8	100874157	100874157	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:100874157T>A	ENST00000358544.2	+	58	11384	c.11273T>A	c.(11272-11274)cTg>cAg	p.L3758Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L3733Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3758					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTCCCGGCTGGGCATCAGC	0.672																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(11272-11274)CTG>CAG		vacuolar protein sorting 13B isoform 5							16.0	18.0	17.0					8																	100874157		2195	4294	6489	SO:0001583	missense	157680				protein transport			g.chr8:100874157T>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11273T>A	8.37:g.100874157T>A	ENSP00000351346:p.Leu3758Gln					VPS13B_uc003yiw.2_Missense_Mutation_p.L3733Q	p.L3758Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		58	11384	+	Breast(36;3.73e-07)		3758					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.11273T>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813999	0.90790	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.74947	-0.89;-0.89	5.78	5.78	0.91487	Autophagy-related, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87293	0.6141	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	D	0.89121	0.3503	10	0.87932	D	0	.	16.1193	0.81336	0.0:0.0:0.0:1.0	.	3733;3758	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Q	3733;3758	ENSP00000349685:L3733Q;ENSP00000351346:L3758Q	ENSP00000349685:L3733Q	L	+	2	0	VPS13B	100943333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.671000	0.83941	2.204000	0.70986	0.528000	0.53228	CTG		0.672	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		3	7	0	0	0	0	3	7				
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T	rs368802826		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:105463544C>T	ENST00000351513.2	-	2	485	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522																																						uc003yly.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(352-354)CGA>CAA		dihydropyrimidinase		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	105.0	91.0	96.0		353	5.5	1.0	8		96	0,8600		0,0,4300	no	missense	DPYS	NM_001385.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	118/520	105463544	1,13005	2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105463544C>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.353G>A	8.37:g.105463544C>T	ENSP00000276651:p.Arg118Gln						p.R118Q	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	482	-			118						Missense_Mutation	SNP	ENST00000351513.2	37	c.353G>A	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	34	5.387074	0.95988	2.27E-4	0.0	ENSG00000147647	ENST00000351513	D	0.90676	-2.71	5.5	5.5	0.81552	Amidohydrolase 1 (1);	0.060299	0.64402	D	0.000006	D	0.92522	0.7625	L	0.52206	1.635	0.52501	D	0.999951	D	0.71674	0.998	P	0.62298	0.9	D	0.92111	0.5696	10	0.56958	D	0.05	-15.0402	13.244	0.60014	0.0:0.9187:0.0:0.0813	.	118	Q14117	DPYS_HUMAN	Q	118	ENSP00000276651:R118Q	ENSP00000276651:R118Q	R	-	2	0	DPYS	105532720	0.998000	0.40836	0.960000	0.40013	0.958000	0.62258	3.708000	0.54845	2.861000	0.98227	0.655000	0.94253	CGA		0.522	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		10	52	0	0	0	0	10	52				
CSMD3	114788	broad.mit.edu	37	8	113243843	113243843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:113243843C>A	ENST00000297405.5	-	69	11003	c.10759G>T	c.(10759-10761)Gga>Tga	p.G3587*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G3547*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G3418*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G3517*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3587						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						TAAGTAGCTCCATCAGGCTCA	0.323										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.(10759-10761)GGA>TGA		CUB and Sushi multiple domains 3 isoform 1							108.0	116.0	113.0					8																	113243843		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113243843C>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.10759G>T	8.37:g.113243843C>A	ENSP00000297405:p.Gly3587*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.G2789*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G3547*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G3418*	p.G3587*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			69	10918	-			3587			Extracellular (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.10759G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	53	20.594235	0.99932	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.1714	0.93580	0.0:1.0:0.0:0.0	.	.	.	.	X	3547;3587;2857;3418;3517	.	ENSP00000297405:G3587X	G	-	1	0	CSMD3	113313019	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.633000	0.61318	2.843000	0.97960	0.585000	0.79938	GGA		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	112	1	0	0.000151284	0.000288292	13	112				
ADCY8	114	broad.mit.edu	37	8	131916241	131916241	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:131916241T>C	ENST00000286355.5	-	7	3780	c.1688A>G	c.(1687-1689)tAt>tGt	p.Y563C	ADCY8_ENST00000377928.3_Missense_Mutation_p.Y563C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	563					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTCCACGTTATAGTCACCGTT	0.468										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1687-1689)TAT>TGT		adenylate cyclase 8							193.0	183.0	186.0					8																	131916241		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916241T>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1688A>G	8.37:g.131916241T>C	ENSP00000286355:p.Tyr563Cys	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.Y563C	p.Y563C	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	1944	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		563			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1688A>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.922083	0.92319	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.81499	-1.5;-1.5;-1.5	6.17	6.17	0.99709	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	H	0.96662	3.86	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.949	D	0.95219	0.8332	10	0.87932	D	0	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	563;563	E7EVL1;P40145	.;ADCY8_HUMAN	C	563;563;178	ENSP00000286355:Y563C;ENSP00000367161:Y563C;ENSP00000428010:Y178C	ENSP00000286355:Y563C	Y	-	2	0	ADCY8	131985423	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.008000	0.88588	2.371000	0.80710	0.533000	0.62120	TAT		0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			35	211	0	0	0	0	35	211				
KCNQ3	3786	broad.mit.edu	37	8	133141603	133141603	+	Missense_Mutation	SNP	G	G	A	rs202163980		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:133141603G>A	ENST00000388996.4	-	15	2945	c.2525C>T	c.(2524-2526)aCg>aTg	p.T842M	KCNQ3_ENST00000521134.1_Missense_Mutation_p.T722M|KCNQ3_ENST00000519445.1_Missense_Mutation_p.T830M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	842					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.T842M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GAAGGGGTCCGTGTCTGTGTC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18635	0.0		0.001	False		,,,				2504	0.0					uc003ytj.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2524-2526)ACG>ATG		potassium voltage-gated channel KQT-like protein							83.0	70.0	74.0					8																	133141603		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141603G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2525C>T	8.37:g.133141603G>A	ENSP00000373648:p.Thr842Met					KCNQ3_uc010mdt.2_Missense_Mutation_p.T830M|uc003yti.2_5'Flank	p.T842M	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2750	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		842					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2525C>T	CCDS34943.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.4	4.629352	0.87560	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	T;T;T	0.50813	0.73;0.73;0.73	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	L	0.44542	1.39	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.64609	-0.6367	10	0.87932	D	0	-15.8721	18.9552	0.92655	0.0:0.0:1.0:0.0	.	830;842	E7ET42;O43525	.;KCNQ3_HUMAN	M	842;722;830;819;721	ENSP00000373648:T842M;ENSP00000429799:T722M;ENSP00000428790:T830M	ENSP00000373648:T842M	T	-	2	0	KCNQ3	133210785	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	9.230000	0.95299	2.714000	0.92807	0.655000	0.94253	ACG		0.572	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		8	52	0	0	0	0	8	52				
KCNQ3	3786	broad.mit.edu	37	8	133142133	133142133	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:133142133C>A	ENST00000388996.4	-	15	2415	c.1995G>T	c.(1993-1995)tcG>tcT	p.S665S	KCNQ3_ENST00000521134.1_Silent_p.S545S|KCNQ3_ENST00000519445.1_Silent_p.S653S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	665					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S665S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTTCAGCTGGCGAGGAGGTGC	0.532																																						uc003ytj.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1993-1995)TCG>TCT		potassium voltage-gated channel KQT-like protein							136.0	115.0	122.0					8																	133142133		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133142133C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1995G>T	8.37:g.133142133C>A						KCNQ3_uc010mdt.2_Silent_p.S653S	p.S665S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2220	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		665					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.1995G>T	CCDS34943.1																																																																																				0.532	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		17	115	1	0	3.33e-07	7.07e-07	17	115				
KHDRBS3	10656	broad.mit.edu	37	8	136594270	136594270	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:136594270A>T	ENST00000355849.5	+	6	1171	c.761A>T	c.(760-762)tAc>tTc	p.Y254F	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	254	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CCAACTGGGTACAGACCTCCA	0.557																																						uc003yuv.2		NA																	0				ovary(2)	2						c.(760-762)TAC>TTC		KH domain containing, RNA binding, signal							45.0	46.0	46.0					8																	136594270		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136594270A>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.761A>T	8.37:g.136594270A>T	ENSP00000348108:p.Tyr254Phe					KHDRBS3_uc003yuw.2_Missense_Mutation_p.Y254F|KHDRBS3_uc010mek.2_RNA	p.Y254F	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		6	1155	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		254			Pro-rich.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.761A>T	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.54|14.54	2.565231|2.565231	0.45694|0.45694	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199	.|T	.|0.46063	.|0.88	6.07|6.07	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52677|0.52677	0.1749|0.1749	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|P;D	.|0.76494	.|0.886;0.999	.|B;D	.|0.68483	.|0.201;0.958	T|T	0.47873|0.47873	-0.9083|-0.9083	5|10	.|0.10636	.|T	.|0.68	-13.9737|-13.9737	12.9046|12.9046	0.58145|0.58145	0.8643:0.1357:0.0:0.0|0.8643:0.1357:0.0:0.0	.|.	.|254;254	.|O75525-2;O75525	.|.;KHDR3_HUMAN	S|F	169|254;226	.|ENSP00000348108:Y254F	.|ENSP00000348108:Y254F	T|Y	+|+	1|2	0|0	KHDRBS3|KHDRBS3	136663452|136663452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	6.381000|6.381000	0.73163|0.73163	1.102000|1.102000	0.41551|0.41551	-0.321000|-0.321000	0.08615|0.08615	ACA|TAC		0.557	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			6	56	0	0	0	0	6	56				
FAM135B	51059	broad.mit.edu	37	8	139323163	139323163	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:139323163C>T	ENST00000395297.1	-	3	248	c.78G>A	c.(76-78)ggG>ggA	p.G26G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	26										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGGTAATACCTAAGAAAAG	0.468										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(76-78)GGG>GGA		hypothetical protein LOC51059							70.0	67.0	68.0					8																	139323163		1918	4122	6040	SO:0001630	splice_region_variant	51059							g.chr8:139323163C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.78-1G>A	8.37:g.139323163C>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.G26G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		3	249	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		26					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.78G>A	CCDS6375.2																																																																																				0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	Silent	10	55	0	0	0	0	10	55				
DENND3	22898	broad.mit.edu	37	8	142188188	142188188	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:142188188C>T	ENST00000262585.2	+	16	2767	c.2489C>T	c.(2488-2490)gCg>gTg	p.A830V	DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000519811.1_Missense_Mutation_p.A910V|DENND3_ENST00000424248.1_Missense_Mutation_p.A778V	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	830					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A830V(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCAGCAGGCGCTGACCAAC	0.517																																						uc003yvy.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(2488-2490)GCG>GTG		DENN/MADD domain containing 3							75.0	73.0	73.0					8																	142188188		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142188188C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2489C>T	8.37:g.142188188C>T	ENSP00000262585:p.Ala830Val					DENND3_uc010mep.2_Missense_Mutation_p.A791V	p.A830V	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		16	2767	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		830					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.2489C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813126	0.90707	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.48836	1.3;0.8;1.26	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74722	-0.3569	10	0.87932	D	0	-42.1167	18.1377	0.89624	0.0:1.0:0.0:0.0	.	910;830	E9PF32;A2RUS2	.;DEND3_HUMAN	V	830;778;910	ENSP00000262585:A830V;ENSP00000410594:A778V;ENSP00000428714:A910V	ENSP00000262585:A830V	A	+	2	0	DENND3	142257370	1.000000	0.71417	0.991000	0.47740	0.549000	0.35272	7.257000	0.78362	2.285000	0.76669	0.655000	0.94253	GCG		0.517	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		14	45	0	0	0	0	14	45				
CYP11B2	1585	broad.mit.edu	37	8	143994781	143994781	+	Silent	SNP	G	G	T	rs369251345		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:143994781G>T	ENST00000323110.2	-	6	1043	c.1041C>A	c.(1039-1041)gcC>gcA	p.A347A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	347					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TGCTGGCTGCGGCGGCCAGGC	0.642									Familial Hyperaldosteronism type I																													uc003yxk.1		NA																	0					0						c.(1039-1041)GCC>GCA		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						56.0	61.0	60.0					8																	143994781		2202	4297	6499	SO:0001819	synonymous_variant	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994781G>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1041C>A	8.37:g.143994781G>T							p.A347A	NM_000498	NP_000489	P19099	C11B2_HUMAN			6	1044	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		347					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.1041C>A	CCDS6393.1																																																																																				0.642	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			15	93	1	0	3.46e-05	6.8e-05	15	93				
IFNA4	3441	broad.mit.edu	37	9	21187364	21187364	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:21187364C>A	ENST00000421715.1	-	1	234	c.167G>T	c.(166-168)aGa>aTa	p.R56I		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	56					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAATCATGTCTGTCCTTCAG	0.522																																					NSCLC(154;890 1986 23660 27800 51138)	uc003zon.2		NA																	0				ovary(1)|skin(1)	2						c.(166-168)AGA>ATA		interferon, alpha 4 precursor							122.0	119.0	120.0					9																	21187364		2203	4300	6503	SO:0001583	missense	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21187364C>A		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.167G>T	9.37:g.21187364C>A	ENSP00000412897:p.Arg56Ile						p.R56I	NM_021068	NP_066546	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	235	-			56					P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	c.167G>T	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	14.86	2.662013	0.47572	.	.	ENSG00000236637	ENST00000421715	T	0.05199	3.48	2.96	2.02	0.26589	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.518642	0.20320	N	0.094649	T	0.21550	0.0519	M	0.89214	3.015	0.24784	N	0.992795	P	0.51240	0.943	P	0.60541	0.876	T	0.03784	-1.1004	10	0.87932	D	0	.	5.5176	0.16916	0.23:0.5456:0.2244:0.0	.	56	P05014	IFNA4_HUMAN	I	56	ENSP00000412897:R56I	ENSP00000412897:R56I	R	-	2	0	IFNA4	21177364	0.013000	0.17824	0.657000	0.29651	0.237000	0.25408	0.419000	0.21247	0.542000	0.28846	0.485000	0.47835	AGA		0.522	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		98	140	1	0	5.34e-38	1.33e-37	98	140				
RECK	8434	broad.mit.edu	37	9	36083451	36083451	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:36083451C>T	ENST00000377966.3	+	8	1095	c.529C>T	c.(529-531)Cca>Tca	p.P177S	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	177	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTCTCCTGGTCCATCTCAGAT	0.408																																						uc003zyv.2		NA																	0				skin(2)|ovary(1)	3						c.(529-531)CCA>TCA		RECK protein precursor							96.0	88.0	91.0					9																	36083451		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36083451C>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.529C>T	9.37:g.36083451C>T	ENSP00000367202:p.Pro177Ser					RECK_uc010mld.2_Missense_Mutation_p.P177S|RECK_uc003zyu.3_Missense_Mutation_p.P177S|RECK_uc003zyw.2_Missense_Mutation_p.P49S|RECK_uc003zyx.2_RNA	p.P177S	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		8	615	+			177			5 X Knot repeats.|Knot 3.		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.529C>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943517	0.34283	.	.	ENSG00000122707	ENST00000377966	T	0.39997	1.05	5.45	5.45	0.79879	.	0.183121	0.49305	D	0.000144	T	0.31295	0.0792	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B	0.20988	0.008;0.013;0.013;0.05	B;B;B;B	0.26310	0.003;0.003;0.003;0.068	T	0.28332	-1.0047	10	0.48119	T	0.1	-11.5314	16.7645	0.85521	0.0:1.0:0.0:0.0	.	177;177;177;177	B2RCE6;A8K9D8;O95980;Q6P9E2	.;.;RECK_HUMAN;.	S	177	ENSP00000367202:P177S	ENSP00000367202:P177S	P	+	1	0	RECK	36073451	0.359000	0.24955	0.902000	0.35471	0.991000	0.79684	2.604000	0.46274	2.552000	0.86080	0.650000	0.86243	CCA		0.408	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			15	89	0	0	0	0	15	89				
FBXO10	26267	broad.mit.edu	37	9	37518331	37518331	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:37518331T>A	ENST00000432825.2	-	9	2353	c.2305A>T	c.(2305-2307)Acc>Tcc	p.T769S	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.T294S	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	769					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCCACTCGGGTGGGTTGGCTG	0.567																																						uc004aab.2		NA																	0				lung(5)	5						c.(2305-2307)ACC>TCC		F-box protein 10							79.0	89.0	85.0					9																	37518331		2144	4242	6386	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37518331T>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2305A>T	9.37:g.37518331T>A	ENSP00000403802:p.Thr769Ser					FBXO10_uc004aac.2_Missense_Mutation_p.T785S|FBXO10_uc004aad.2_Missense_Mutation_p.T319S	p.T769S	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2354	-			769			PbH1 15.		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2305A>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259101	0.80246	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80393	-1.37;-1.37	5.36	5.36	0.76844	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	L	0.29908	0.895	0.80722	D	1	D;D;D	0.67145	0.996;0.99;0.99	D;P;P	0.63381	0.914;0.878;0.878	T	0.83198	-0.0080	10	0.46703	T	0.11	-27.669	14.3621	0.66779	0.0:0.0:0.0:1.0	.	648;294;769	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	S	769;294	ENSP00000403802:T769S;ENSP00000441307:T294S	ENSP00000403802:T769S	T	-	1	0	FBXO10	37508331	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.382000	0.59594	2.021000	0.59480	0.460000	0.39030	ACC		0.567	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			23	24	0	0	0	0	23	24				
DCAF10	79269	broad.mit.edu	37	9	37860055	37860055	+	Silent	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:37860055A>G	ENST00000377724.3	+	6	1541	c.1176A>G	c.(1174-1176)ccA>ccG	p.P392P	DCAF10_ENST00000242323.7_Silent_p.P355P|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_3'UTR	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	392					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GAGTTTCACCACGAAATAGTC	0.448																																						uc004aao.2		NA																	0				central_nervous_system(1)	1						c.(1174-1176)CCA>CCG		WD repeat domain 32							108.0	97.0	100.0					9																	37860055		2203	4300	6503	SO:0001819	synonymous_variant	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37860055A>G	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1176A>G	9.37:g.37860055A>G						DCAF10_uc010mlz.2_Silent_p.P219P|DCAF10_uc004aap.2_Silent_p.P43P	p.P392P	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN			6	1250	+			392					A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Silent	SNP	ENST00000377724.3	37	c.1176A>G	CCDS6613.2																																																																																				0.448	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		4	77	0	0	0	0	4	77				
TRPM3	80036	broad.mit.edu	37	9	73151901	73151901	+	Silent	SNP	T	T	A	rs573463487		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:73151901T>A	ENST00000377110.3	-	25	4335	c.4092A>T	c.(4090-4092)ctA>ctT	p.L1364L	TRPM3_ENST00000357533.2_Silent_p.L1368L|TRPM3_ENST00000408909.2_Silent_p.L1223L|TRPM3_ENST00000396292.4_Silent_p.L1236L|TRPM3_ENST00000358082.3_Silent_p.L1226L|TRPM3_ENST00000396285.1_Silent_p.L1223L|TRPM3_ENST00000423814.3_Silent_p.L1391L|TRPM3_ENST00000377106.1_Silent_p.L1236L|TRPM3_ENST00000360823.2_Silent_p.L1226L|TRPM3_ENST00000396280.5_Silent_p.L1213L|TRPM3_ENST00000377105.1_Silent_p.L1223L|TRPM3_ENST00000377111.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1389					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TAGCCCGGTGTAGGCTCAGGG	0.463																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(4090-4092)CTA>CTT		transient receptor potential cation channel,							106.0	110.0	109.0					9																	73151901		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73151901T>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4092A>T	9.37:g.73151901T>A						TRPM3_uc004ahu.2_Silent_p.L1206L|TRPM3_uc004ahv.2_Silent_p.L1166L|TRPM3_uc004ahw.2_Silent_p.L1236L|TRPM3_uc004ahx.2_Silent_p.L1223L|TRPM3_uc004ahy.2_Silent_p.L1226L|TRPM3_uc004ahz.2_Silent_p.L1213L|TRPM3_uc004aia.2_Silent_p.L1211L|TRPM3_uc004aib.2_Silent_p.L1201L|TRPM3_uc004aic.2_Intron	p.L1364L	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			25	4336	-			1389			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	c.4092A>T	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	T	4.846	0.157256	0.09236	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.17	-4.32	0.03688	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44190	-0.9344	4	.	.	.	-11.4919	5.0199	0.14356	0.1022:0.338:0.4164:0.1434	.	.	.	.	S	1213	.	.	T	-	1	0	TRPM3	72341721	0.931000	0.31567	0.977000	0.42913	0.992000	0.81027	-0.022000	0.12480	-0.609000	0.05724	0.533000	0.62120	ACA		0.463	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		36	114	0	0	0	0	36	114				
PAPPA	5069	broad.mit.edu	37	9	118973930	118973930	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:118973930T>A	ENST00000328252.3	+	4	2006	c.1637T>A	c.(1636-1638)tTg>tAg	p.L546*	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	546	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCATTGTCTTGAACCCATCT	0.502																																						uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(1636-1638)TTG>TAG		pregnancy-associated plasma protein A							124.0	110.0	115.0					9																	118973930		2203	4300	6503	SO:0001587	stop_gained	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118973930T>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1637T>A	9.37:g.118973930T>A	ENSP00000330658:p.Leu546*					PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	p.L546*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			4	2018	+			546			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Nonsense_Mutation	SNP	ENST00000328252.3	37	c.1637T>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	T	44	10.898862	0.99485	.	.	ENSG00000182752	ENST00000328252	.	.	.	5.64	5.64	0.86602	.	0.063895	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1937	16.152	0.81629	0.0:0.0:0.0:1.0	.	.	.	.	X	546	.	ENSP00000330658:L546X	L	+	2	0	PAPPA	118013751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.279000	0.76181	0.459000	0.35465	TTG		0.502	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		22	64	0	0	0	0	22	64				
OR1L3	26735	broad.mit.edu	37	9	125438052	125438052	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:125438052T>C	ENST00000304820.2	+	1	738	c.644T>C	c.(643-645)aTc>aCc	p.I215T		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GTCTGTATCATCATCTCTTAT	0.488																																						uc011lzb.1		NA																	0				skin(1)	1						c.(643-645)ATC>ACC		olfactory receptor, family 1, subfamily L,							137.0	130.0	132.0					9																	125438052		2203	4300	6503	SO:0001583	missense	26735				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125438052T>C		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.644T>C	9.37:g.125438052T>C	ENSP00000302863:p.Ile215Thr						p.I215T	NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN			1	644	+			215			Helical; Name=5; (Potential).		B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	c.644T>C	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	T	6.148	0.395584	0.11638	.	.	ENSG00000171481	ENST00000304820	T	0.00164	8.64	4.59	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.455087	0.16522	U	0.210761	T	0.00144	0.0004	L	0.42686	1.345	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.32268	-0.9913	10	0.59425	D	0.04	-2.6791	6.2858	0.21033	0.0:0.0881:0.1608:0.751	.	215	Q8NH93	OR1L3_HUMAN	T	215	ENSP00000302863:I215T	ENSP00000302863:I215T	I	+	2	0	OR1L3	124477873	0.064000	0.20934	0.001000	0.08648	0.650000	0.38633	2.728000	0.47319	0.368000	0.24481	0.529000	0.55759	ATC		0.488	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			22	91	0	0	0	0	22	91				
FANCB	2187	broad.mit.edu	37	X	14882732	14882732	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:14882732C>G	ENST00000324138.3	-	2	1054	c.901G>C	c.(901-903)Gta>Cta	p.V301L	FANCB_ENST00000398334.1_Missense_Mutation_p.V301L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	301					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ATAAAGGATACAACGAAAAAG	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1		NA																	0				lung(1)	1						c.(901-903)GTA>CTA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							93.0	82.0	86.0					X																	14882732		2203	4300	6503	SO:0001583	missense	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14882732C>G	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.901G>C	X.37:g.14882732C>G	ENSP00000326819:p.Val301Leu					FANCB_uc004cwh.1_Missense_Mutation_p.V301L	p.V301L	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			3	1169	-	Hepatocellular(33;0.183)		301					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.901G>C	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655749	0.47467	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03330	3.97;3.97;3.97	5.43	4.52	0.55395	.	0.205330	0.40908	D	0.000989	T	0.08492	0.0211	M	0.71581	2.175	0.35191	D	0.773343	P	0.51351	0.944	P	0.47470	0.548	T	0.14200	-1.0481	10	0.66056	D	0.02	-13.17	9.7139	0.40263	0.0:0.8296:0.0:0.1704	.	301	Q8NB91	FANCB_HUMAN	L	301	ENSP00000326819:V301L;ENSP00000381378:V301L;ENSP00000397849:V301L	ENSP00000326819:V301L	V	-	1	0	FANCB	14792653	1.000000	0.71417	0.688000	0.30117	0.599000	0.36880	2.045000	0.41250	1.087000	0.41251	0.513000	0.50165	GTA		0.378	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		9	39	0	0	0	0	9	39				
CDKL5	6792	broad.mit.edu	37	X	18638053	18638053	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:18638053G>T	ENST00000379989.3	+	17	2628	c.2343G>T	c.(2341-2343)agG>agT	p.R781S	CDKL5_ENST00000379996.3_Missense_Mutation_p.R781S|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	781					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GATTTTTCAGGTCAATGAAAA	0.289																																						uc004cym.2		NA																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	GRCh37	CD052095	CDKL5	D		c.(2341-2343)AGG>AGT		cyclin-dependent kinase-like 5							34.0	33.0	33.0					X																	18638053		2202	4293	6495	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18638053G>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2343G>T	X.37:g.18638053G>T	ENSP00000369325:p.Arg781Ser					CDKL5_uc004cyn.2_Missense_Mutation_p.R781S	p.R781S	NM_003159	NP_003150	O76039	CDKL5_HUMAN			16	2596	+	Hepatocellular(33;0.183)		781					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2343G>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636645	0.29068	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.81078	-1.45;-1.45	5.44	2.68	0.31781	.	0.084340	0.85682	N	0.000000	T	0.81884	0.4917	L	0.32530	0.975	0.34252	D	0.678906	D	0.76494	0.999	D	0.78314	0.991	D	0.84662	0.0707	10	0.87932	D	0	-23.4183	8.6934	0.34280	0.327:0.0:0.673:0.0	.	781	O76039	CDKL5_HUMAN	S	781	ENSP00000369332:R781S;ENSP00000369325:R781S	ENSP00000369325:R781S	R	+	3	2	CDKL5	18547974	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	3.435000	0.52849	0.586000	0.29626	-0.192000	0.12808	AGG		0.289	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		8	14	1	0	1.26e-09	2.82e-09	8	14				
PHKA2	5256	broad.mit.edu	37	X	18913306	18913306	+	Missense_Mutation	SNP	G	G	A	rs148627941		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:18913306G>A	ENST00000379942.4	-	31	3951	c.3286C>T	c.(3286-3288)Cac>Tac	p.H1096Y	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1096	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GAGAGACCGTGGCACTGGAGG	0.552																																						uc004cyv.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3286-3288)CAC>TAC		phosphorylase kinase, alpha 2 (liver)		G	TYR/HIS	1,3834		0,1,1631,571	173.0	131.0	145.0		3286	6.2	1.0	X	dbSNP_134	145	0,6728		0,0,2428,1872	no	missense	PHKA2	NM_000292.2	83	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	1096/1236	18913306	1,10562	2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18913306G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3286C>T	X.37:g.18913306G>A	ENSP00000369274:p.His1096Tyr					PHKA2_uc004cyu.3_Missense_Mutation_p.H402Y|PHKA2_uc010nfe.1_Missense_Mutation_p.H128Y|PHKA2_uc010nff.1_RNA	p.H1096Y	NM_000292	NP_000283	P46019	KPB2_HUMAN			31	3716	-	Hepatocellular(33;0.183)		1096			Calmodulin-binding (Potential).		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3286C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074019	0.94000	2.61E-4	0.0	ENSG00000044446	ENST00000379942	D	0.95238	-3.65	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94542	0.8242	M	0.64567	1.98	0.80722	D	1	P	0.37824	0.609	B	0.41466	0.358	D	0.93816	0.7114	10	0.51188	T	0.08	-23.596	19.7362	0.96205	0.0:0.0:1.0:0.0	.	1096	P46019	KPB2_HUMAN	Y	1096	ENSP00000369274:H1096Y	ENSP00000369274:H1096Y	H	-	1	0	PHKA2	18823227	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.636000	0.98440	2.618000	0.88619	0.600000	0.82982	CAC		0.552	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		23	65	0	0	0	0	23	65				
MAGEB18	286514	broad.mit.edu	37	X	26158123	26158123	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:26158123C>A	ENST00000325250.1	+	2	1208	c.1021C>A	c.(1021-1023)Cat>Aat	p.H341N		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	341	Interaction with LNX1.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGCTTCTCCCATGCTAAGTG	0.502																																						uc004dbq.1		NA																	0				central_nervous_system(1)	1						c.(1021-1023)CAT>AAT		melanoma antigen family B, 18							33.0	18.0	23.0					X																	26158123		2201	4300	6501	SO:0001583	missense	286514						protein binding	g.chrX:26158123C>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.1021C>A	X.37:g.26158123C>A	ENSP00000314543:p.His341Asn						p.H341N	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	1208	+			341						Missense_Mutation	SNP	ENST00000325250.1	37	c.1021C>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	9.057	0.993584	0.19043	.	.	ENSG00000176774	ENST00000325250	T	0.01933	4.55	4.03	-0.128	0.13506	.	3.947230	0.00832	N	0.001661	T	0.03739	0.0106	M	0.70787	2.145	0.09310	N	1	B	0.25105	0.118	B	0.16289	0.015	T	0.44251	-0.9340	10	0.45353	T	0.12	.	2.1928	0.03904	0.1851:0.3405:0.356:0.1184	.	341	Q96M61	MAGBI_HUMAN	N	341	ENSP00000314543:H341N	ENSP00000314543:H341N	H	+	1	0	MAGEB18	26068044	0.001000	0.12720	0.000000	0.03702	0.222000	0.24845	-0.163000	0.09997	-0.136000	0.11475	-0.237000	0.12165	CAT		0.502	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		3	9	1	0	0.004672	0.00828519	3	9				
IL1RAPL1	11141	broad.mit.edu	37	X	29973487	29973487	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:29973487G>C	ENST00000378993.1	+	11	2314	c.1641G>C	c.(1639-1641)ttG>ttC	p.L547F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L547F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	547	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCAACAAGTTGAACTCCAAGT	0.448																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(1639-1641)TTG>TTC		interleukin 1 receptor accessory protein-like 1							59.0	54.0	55.0					X																	29973487		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973487G>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1641G>C	X.37:g.29973487G>C	ENSP00000368278:p.Leu547Phe						p.L547F	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2149	+			547			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1641G>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184216	0.38609	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.08282	3.11;3.11	5.5	4.58	0.56647	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.061993	0.64402	D	0.000009	T	0.17831	0.0428	M	0.64170	1.965	0.46823	D	0.999216	P	0.40250	0.709	P	0.49140	0.601	T	0.00912	-1.1517	9	.	.	.	.	14.8093	0.69982	0.0:0.1406:0.8594:0.0	.	547	Q9NZN1	IRPL1_HUMAN	F	547	ENSP00000368278:L547F;ENSP00000305200:L547F	.	L	+	3	2	IL1RAPL1	29883408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.058000	0.57463	2.288000	0.76882	0.600000	0.82982	TTG		0.448	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		7	16	0	0	0	0	7	16				
MAGEB1	4112	broad.mit.edu	37	X	30269597	30269597	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:30269597C>A	ENST00000378981.3	+	4	1308	c.987C>A	c.(985-987)gcC>gcA	p.A329A	MAGEB1_ENST00000397550.1_Silent_p.A329A|MAGEB1_ENST00000397548.2_Silent_p.A329A	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	329										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCACTACTGCCACGACTTTTA	0.532																																						uc004dcc.2		NA																	0					0						c.(985-987)GCC>GCA		melanoma antigen family B, 1							80.0	73.0	75.0					X																	30269597		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30269597C>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.987C>A	X.37:g.30269597C>A						MAGEB1_uc004dcd.2_Silent_p.A329A|MAGEB1_uc004dce.2_Silent_p.A329A	p.A329A	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1307	+			329					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.987C>A	CCDS14222.1																																																																																				0.532	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		13	54	1	0	2.27e-07	4.84e-07	13	54				
DMD	1756	broad.mit.edu	37	X	32366523	32366523	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:32366523C>T	ENST00000357033.4	-	38	5654	c.5448G>A	c.(5446-5448)atG>atA	p.M1816I	DMD_ENST00000378677.2_Splice_Site_p.M1812I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1816	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACCAATTTACCATATCTTTAT	0.353																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5446-5448)ATG>ATA		dystrophin Dp427m isoform							130.0	116.0	121.0					X																	32366523		2201	4300	6501	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32366523C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5448+1G>A	X.37:g.32366523C>T						DMD_uc004dcw.2_Missense_Mutation_p.M472I|DMD_uc004dcx.2_Missense_Mutation_p.M475I|DMD_uc004dcz.2_Missense_Mutation_p.M1693I|DMD_uc004dcy.1_Missense_Mutation_p.M1812I|DMD_uc004ddb.1_Missense_Mutation_p.M1808I|DMD_uc010ngo.1_Intron	p.M1816I	NM_004006	NP_003997	P11532	DMD_HUMAN			38	5692	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1816			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5448G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082552	0.55861	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000493412	T;T;T	0.54071	0.59;0.59;0.59	5.49	5.49	0.81192	.	0.000000	0.44902	U	0.000416	T	0.41351	0.1155	N	0.08118	0	0.80722	D	1	P;B;P;P;P	0.51933	0.949;0.367;0.915;0.915;0.915	P;B;B;B;B	0.47402	0.546;0.074;0.344;0.258;0.258	T	0.36601	-0.9741	9	.	.	.	.	18.4768	0.90795	0.0:1.0:0.0:0.0	.	1808;1816;1812;475;472	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	I	1808;475;472;1812;1816;1816;1693;35	ENSP00000367948:M1812I;ENSP00000354923:M1816I;ENSP00000417725:M35I	.	M	-	3	0	DMD	32276444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.161000	0.71868	2.306000	0.77630	0.462000	0.41574	ATG		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Missense_Mutation	12	37	0	0	0	0	12	37				
RPGR	6103	broad.mit.edu	37	X	38145138	38145138	+	Intron	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:38145138T>C	ENST00000339363.3	-	14	2688				RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000378505.2_Silent_p.E1038E			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cctcctctccttcctcttcct	0.552																																						uc004ded.1		NA																	0				ovary(1)	1	GRCh37	CD035011	orf15	D		c.(3112-3114)GAA>GAG		retinitis pigmentosa GTPase regulator isoform C							125.0	91.0	102.0					X																	38145138		2195	4296	6491	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38145138T>C	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1208A>G	X.37:g.38145138T>C						RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	p.E1038E	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	3282	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37	c.3114A>G																																																																																					0.552	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		3	12	0	0	0	0	3	12				
PFKFB1	5207	broad.mit.edu	37	X	54978369	54978369	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:54978369C>G	ENST00000375006.3	-	8	885	c.815G>C	c.(814-816)gGt>gCt	p.G272A	PFKFB1_ENST00000545676.1_Missense_Mutation_p.G207A|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	272	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCCAGAGTCACCTCCGATGCG	0.582																																						uc004dty.1		NA																	0				ovary(1)	1						c.(814-816)GGT>GCT		6-phosphofructo-2-kinase/fructose-2,							105.0	67.0	79.0					X																	54978369		2202	4299	6501	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54978369C>G		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.815G>C	X.37:g.54978369C>G	ENSP00000364145:p.Gly272Ala					PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.G207A	p.G272A	NM_002625	NP_002616	P16118	F261_HUMAN			8	886	-			272			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.815G>C	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519962	0.85495	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	T;T	0.77229	-1.08;-1.08	4.53	4.53	0.55603	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.991	D	0.91469	0.5195	10	0.87932	D	0	-10.4401	15.6194	0.76793	0.0:1.0:0.0:0.0	.	207;272	B4DUN5;P16118	.;F261_HUMAN	A	272;207	ENSP00000364145:G272A;ENSP00000444074:G207A	ENSP00000364145:G272A	G	-	2	0	PFKFB1	54995094	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.624000	0.83124	2.015000	0.59207	0.519000	0.50382	GGT		0.582	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			8	11	0	0	0	0	8	11				
MTMR8	55613	broad.mit.edu	37	X	63563520	63563520	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:63563520T>G	ENST00000374852.3	-	8	1013	c.946A>C	c.(946-948)Att>Ctt	p.I316L	MTMR8_ENST00000453546.1_Missense_Mutation_p.I316L|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	316	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCATCCATAATAGCTTTAATG	0.358																																						uc004dvs.2		NA																	1	Whole gene deletion(1)		ovary(1)	ovary(2)|breast(2)	4						c.(946-948)ATT>CTT		myotubularin related protein 8							66.0	55.0	59.0					X																	63563520		2203	4299	6502	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63563520T>G	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.946A>C	X.37:g.63563520T>G	ENSP00000363985:p.Ile316Leu					MTMR8_uc011mou.1_Missense_Mutation_p.I316L|MTMR8_uc004dvt.1_Missense_Mutation_p.I316L	p.I316L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			8	1014	-			316			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.946A>C	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.49|13.49	2.252221|2.252221	0.39797|0.39797	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	D;D|.	0.92595|.	-3.07;-3.07|.	3.53|3.53	2.35|2.35	0.29111|0.29111	Myotubularin phosphatase domain (1);|.	0.303789|.	0.22253|.	U|.	0.062524|.	T|T	0.35566|0.35566	0.0936|0.0936	L|L	0.43152|0.43152	1.355|1.355	0.29949|0.29949	N|N	0.820397|0.820397	B;B|.	0.18461|.	0.028;0.015|.	B;B|.	0.21360|.	0.015;0.034|.	T|T	0.31420|0.31420	-0.9944|-0.9944	10|5	0.40728|.	T|.	0.16|.	.|.	5.158|5.158	0.15046|0.15046	0.0:0.3785:0.0:0.6215|0.0:0.3785:0.0:0.6215	.|.	316;316|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	L|S	316;316;202|119	ENSP00000394003:I316L;ENSP00000363985:I316L|.	ENSP00000247400:I202L|.	I|Y	-|-	1|2	0|0	MTMR8|MTMR8	63480245|63480245	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	0.747000|0.747000	0.26290|0.26290	0.417000|0.417000	0.25871|0.25871	0.417000|0.417000	0.27973|0.27973	ATT|TAT		0.358	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		4	15	0	0	0	0	4	15				
AWAT2	158835	broad.mit.edu	37	X	69262102	69262102	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:69262102T>C	ENST00000276101.3	-	6	787	c.782A>G	c.(781-783)tAt>tGt	p.Y261C		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	261					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GCCACGTCCATAGAAAGCACA	0.537																																					NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1		NA																	0					0						c.(781-783)TAT>TGT		wax synthase 2							103.0	82.0	89.0					X																	69262102		2203	4300	6503	SO:0001583	missense	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69262102T>C	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.782A>G	X.37:g.69262102T>C	ENSP00000421172:p.Tyr261Cys						p.Y261C	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			6	788	-			261					Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	c.782A>G	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055682	0.55325	.	.	ENSG00000147160	ENST00000276101	T	0.15603	2.41	5.04	3.89	0.44902	.	0.393126	0.24438	N	0.038525	T	0.35970	0.0950	M	0.76574	2.34	0.47511	D	0.99944	D	0.89917	1.0	D	0.71870	0.975	T	0.05178	-1.0901	10	0.51188	T	0.08	.	6.8367	0.23941	0.0:0.1206:0.0:0.8794	.	261	Q6E213	AWAT2_HUMAN	C	261	ENSP00000421172:Y261C	ENSP00000421172:Y261C	Y	-	2	0	AWAT2	69178827	0.995000	0.38212	0.792000	0.32020	0.640000	0.38277	2.648000	0.46647	0.746000	0.32786	0.486000	0.48141	TAT		0.537	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254		12	26	0	0	0	0	12	26				
TAF9B	51616	broad.mit.edu	37	X	77393354	77393354	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:77393354T>C	ENST00000341864.5	-	4	391	c.297A>G	c.(295-297)aaA>aaG	p.K99K		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	99					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						GGGTTTGATTTTTCTGCCTTG	0.343																																						uc004eda.2		NA																	0					0						c.(295-297)AAA>AAG		transcription associated factor 9B							93.0	80.0	85.0					X																	77393354		2203	4296	6499	SO:0001819	synonymous_variant	51616				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	g.chrX:77393354T>C	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.297A>G	X.37:g.77393354T>C							p.K99K	NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN			4	368	-			99					B2RUZ9|Q9Y2S3	Silent	SNP	ENST00000341864.5	37	c.297A>G	CCDS35340.1																																																																																				0.343	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		20	55	0	0	0	0	20	55				
BRWD3	254065	broad.mit.edu	37	X	79999597	79999597	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:79999597C>G	ENST00000373275.4	-	8	963	c.747G>C	c.(745-747)tgG>tgC	p.W249C		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	249					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCGAAGACACCATACTCTTA	0.413																																						uc004edt.2		NA																	0				ovary(4)	4						c.(745-747)TGG>TGC		bromodomain and WD repeat domain containing 3							144.0	121.0	128.0					X																	79999597		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999597C>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.747G>C	X.37:g.79999597C>G	ENSP00000362372:p.Trp249Cys					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.W78C|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.W249C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	1010	-			249			WD 3.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.747G>C	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926799	0.73327	.	.	ENSG00000165288	ENST00000373275	D	0.83506	-1.73	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.145914	0.49916	D	0.000138	D	0.94135	0.8119	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96293	0.9215	9	.	.	.	-5.3465	16.6562	0.85229	0.0:1.0:0.0:0.0	.	249	Q6RI45	BRWD3_HUMAN	C	249	ENSP00000362372:W249C	.	W	-	3	0	BRWD3	79886253	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.193000	0.70182	0.415000	0.27848	TGG		0.413	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		8	43	0	0	0	0	8	43				
DACH2	117154	broad.mit.edu	37	X	85969660	85969660	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:85969660C>A	ENST00000373125.4	+	6	1041	c.1041C>A	c.(1039-1041)gcC>gcA	p.A347A	DACH2_ENST00000373131.1_Silent_p.A334A|DACH2_ENST00000508860.1_Silent_p.A180A|DACH2_ENST00000510272.1_Silent_p.A128A	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	347					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						ATACTATTGCCAACATGGCTG	0.448																																						uc004eew.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1039-1041)GCC>GCA		dachshund 2 isoform a							142.0	114.0	124.0					X																	85969660		2203	4300	6503	SO:0001819	synonymous_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969660C>A	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.1041C>A	X.37:g.85969660C>A						DACH2_uc004eex.2_Silent_p.A334A|DACH2_uc010nmq.2_Silent_p.A213A|DACH2_uc011mra.1_Silent_p.A180A|DACH2_uc010nmr.2_Silent_p.A128A|DACH2_uc004eey.2_Silent_p.A30A|DACH2_uc004eez.2_Silent_p.A30A	p.A347A	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			6	1211	+			347					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	c.1041C>A	CCDS14455.1																																																																																				0.448	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		8	65	1	0	0.000442599	0.000813707	8	65				
ARMCX2	9823	broad.mit.edu	37	X	100912388	100912388	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:100912388T>C	ENST00000328766.5	-	5	640	c.187A>G	c.(187-189)Atc>Gtc	p.I63V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.I63V|ARMCX2_ENST00000467416.1_5'UTR|ARMCX2_ENST00000330154.2_Missense_Mutation_p.I63V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	63						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCAAGGTCGATTGTGAATCCG	0.597																																						uc004eid.2		NA																	0				ovary(6)	6						c.(187-189)ATC>GTC		ALEX2 protein							73.0	69.0	71.0					X																	100912388		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100912388T>C	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.187A>G	X.37:g.100912388T>C	ENSP00000331662:p.Ile63Val					ARMCX2_uc004eie.3_Missense_Mutation_p.I63V|ARMCX2_uc004eif.3_Missense_Mutation_p.I63V|ARMCX2_uc004eig.3_Missense_Mutation_p.I63V|ARMCX2_uc010nnt.2_Missense_Mutation_p.I63V	p.I63V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	542	-			63					O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.187A>G	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	T	6.269	0.417819	0.11870	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824;ENST00000413506;ENST00000433318;ENST00000440675;ENST00000458024	T;T;T;T;T	0.44482	1.31;1.31;1.31;0.92;0.92	4.54	3.26	0.37387	.	0.000000	0.36409	N	0.002611	T	0.31263	0.0791	L	0.44542	1.39	0.23568	N	0.997395	P	0.44006	0.824	B	0.42386	0.386	T	0.09100	-1.0690	10	0.14656	T	0.56	-9.776	7.5533	0.27810	0.1935:0.0:0.0:0.8065	.	63	Q7L311	ARMX2_HUMAN	V	63	ENSP00000331662:I63V;ENSP00000328631:I63V;ENSP00000349281:I63V;ENSP00000412481:I63V;ENSP00000410151:I63V	ENSP00000331662:I63V	I	-	1	0	ARMCX2	100799044	1.000000	0.71417	0.998000	0.56505	0.379000	0.30106	1.797000	0.38804	1.751000	0.51876	0.441000	0.28932	ATC		0.597	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		15	59	0	0	0	0	15	59				
DCX	1641	broad.mit.edu	37	X	110644217	110644217	+	Splice_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:110644217C>A	ENST00000338081.3	-	3	1120		c.e3+1		DCX_ENST00000496551.1_Splice_Site|DCX_ENST00000371993.2_Splice_Site|DCX_ENST00000356915.2_Splice_Site|DCX_ENST00000356220.3_Splice_Site|DCX_ENST00000488120.1_Splice_Site	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin						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)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AAAGTACCTACCTGTTTTCCA	0.398																																						uc004epd.2		NA																	0				central_nervous_system(2)|lung(1)|skin(1)	4	GRCh37	CS982159	DCX	S		c.e3+1		doublecortin isoform a							93.0	97.0	96.0					X																	110644217		2203	4300	6503	SO:0001630	splice_region_variant	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644217C>A	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.948+1G>T	X.37:g.110644217C>A						DCX_uc011msv.1_Splice_Site_p.Q316_splice|DCX_uc004epe.2_Splice_Site_p.Q235_splice|DCX_uc004epf.2_Splice_Site_p.Q235_splice|DCX_uc004epg.2_Splice_Site_p.Q235_splice	p.Q316_splice	NM_000555	NP_000546	O43602	DCX_HUMAN			3	1120	-								A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Splice_Site	SNP	ENST00000338081.3	37	c.948_splice	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098211	0.76870	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000358070;ENST00000356220;ENST00000488120	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6544	0.88174	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCX	110530873	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.798000	0.85924	2.294000	0.77228	0.529000	0.55759	.		0.398	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	Intron	31	116	1	0	1.08e-15	2.57e-15	31	116				
LUZP4	51213	broad.mit.edu	37	X	114540770	114540770	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:114540770G>T	ENST00000371920.3	+	4	350	c.343G>T	c.(343-345)Gag>Tag	p.E115*	LUZP4_ENST00000451986.2_Splice_Site_p.E33*	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	115						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCCTTTTCAGGAGAAGTGCAG	0.378																																						uc004eqa.2		NA																	0				ovary(2)	2						c.(343-345)GAG>TAG		leucine zipper protein 4							55.0	57.0	56.0					X																	114540770		2203	4300	6503	SO:0001630	splice_region_variant	51213					nucleus		g.chrX:114540770G>T	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.343-1G>T	X.37:g.114540770G>T						LUZP4_uc004eqb.2_Nonsense_Mutation_p.E33*	p.E115*	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN			4	377	+			115					B3KSD6	Nonsense_Mutation	SNP	ENST00000371920.3	37	c.343G>T	CCDS14567.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.46|14.46	2.542314|2.542314	0.45280|0.45280	.|.	.|.	ENSG00000102021|ENSG00000102021	ENST00000451986;ENST00000371920|ENST00000371921	.|T	.|0.72942	.|-0.7	3.22|3.22	2.35|2.35	0.29111|0.29111	.|.	0.596471|.	0.12836|.	N|.	0.435228|.	.|T	.|0.65873	.|0.2733	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59451	.|-0.7452	.|5	.|.	.|.	.|.	.|.	4.7803|4.7803	0.13199|0.13199	0.2955:0.0:0.7045:0.0|0.2955:0.0:0.7045:0.0	.|.	.|.	.|.	.|.	X|V	33;115|75	.|ENSP00000360989:G75V	.|.	E|G	+|+	1|2	0|0	LUZP4|LUZP4	114447026|114447026	0.103000|0.103000	0.21917|0.21917	0.050000|0.050000	0.19076|0.19076	0.031000|0.031000	0.12232|0.12232	0.623000|0.623000	0.24447|0.24447	0.764000|0.764000	0.33197|0.33197	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.378	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383	Nonsense_Mutation	6	32	1	0	0.00116845	0.00211096	6	32				
GPC3	2719	broad.mit.edu	37	X	133087117	133087117	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:133087117C>A	ENST00000370818.3	-	2	742	c.297G>T	c.(295-297)gaG>gaT	p.E99D	GPC3_ENST00000394299.2_Missense_Mutation_p.E99D|GPC3_ENST00000543339.1_Intron	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	99					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGAACTTGAGCTCCATACTTG	0.438			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1		NA	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			0				lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(295-297)GAG>GAT		glypican 3 isoform 2 precursor							238.0	208.0	218.0					X																	133087117		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133087117C>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.297G>T	X.37:g.133087117C>A	ENSP00000359854:p.Glu99Asp					GPC3_uc010nrn.1_Missense_Mutation_p.E99D|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR	p.E99D	NM_004484	NP_004475	P51654	GPC3_HUMAN			2	487	-	Acute lymphoblastic leukemia(192;0.000127)		99					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.297G>T	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465485	0.43839	.	.	ENSG00000147257	ENST00000370818;ENST00000394299	T;T	0.50813	0.73;0.73	5.5	3.71	0.42584	.	0.075291	0.53938	D	0.000052	T	0.35248	0.0925	L	0.39898	1.24	0.80722	D	1	P;B	0.34684	0.463;0.232	B;B	0.33568	0.166;0.102	T	0.14200	-1.0481	10	0.41790	T	0.15	.	7.4785	0.27391	0.0:0.734:0.0:0.266	.	99;99	C9JLE3;P51654	.;GPC3_HUMAN	D	99	ENSP00000359854:E99D;ENSP00000377836:E99D	ENSP00000359854:E99D	E	-	3	2	GPC3	132914783	0.791000	0.28800	1.000000	0.80357	0.997000	0.91878	-0.072000	0.11486	1.076000	0.40961	0.506000	0.49869	GAG		0.438	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		31	174	1	0	5.6e-13	1.32e-12	31	174				
MCF2	4168	broad.mit.edu	37	X	138708352	138708352	+	Splice_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:138708352C>A	ENST00000370576.4	-	6	896	c.687G>T	c.(685-687)caG>caT	p.Q229H	MCF2_ENST00000414978.1_Splice_Site_p.Q289H|MCF2_ENST00000338585.6_Splice_Site_p.Q229H|MCF2_ENST00000520602.1_Splice_Site_p.Q289H|MCF2_ENST00000536274.1_Splice_Site_p.Q190H|MCF2_ENST00000370573.4_Splice_Site_p.Q229H|MCF2_ENST00000519895.1_Splice_Site_p.Q289H|MCF2_ENST00000370578.4_Splice_Site_p.Q374H	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	229					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTAACTGACCTGTTGAAAAT	0.348																																						uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(685-687)CAG>CAT		MCF.2 cell line derived transforming sequence							84.0	79.0	81.0					X																	138708352		2202	4298	6500	SO:0001630	splice_region_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138708352C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.687+1G>T	X.37:g.138708352C>A						MCF2_uc004fav.2_Missense_Mutation_p.Q229H|MCF2_uc011mwl.1_Missense_Mutation_p.Q190H|MCF2_uc010nsh.1_Missense_Mutation_p.Q229H|MCF2_uc011mwm.1_Missense_Mutation_p.Q190H|MCF2_uc011mwn.1_Missense_Mutation_p.Q374H|MCF2_uc004faw.2_Missense_Mutation_p.Q289H|MCF2_uc011mwo.1_Missense_Mutation_p.Q289H	p.Q229H	NM_005369	NP_005360	P10911	MCF2_HUMAN			6	981	-	Acute lymphoblastic leukemia(192;0.000127)		229			Spectrin.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.687G>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131178	0.56828	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.92	5.92	0.95590	.	0.093153	0.64402	D	0.000001	T	0.35799	0.0944	N	0.19112	0.55	0.45150	D	0.998168	B;P;P;B;P;B;P;B	0.42248	0.08;0.774;0.58;0.015;0.481;0.444;0.508;0.444	B;B;B;B;B;B;B;B	0.43728	0.104;0.429;0.382;0.149;0.286;0.308;0.426;0.289	T	0.06643	-1.0815	9	.	.	.	.	18.0724	0.89413	0.0:1.0:0.0:0.0	.	289;374;190;229;229;374;229;229	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	H	289;229;190;374;289;289;229;229	ENSP00000427745:Q289H;ENSP00000359608:Q229H;ENSP00000438155:Q190H;ENSP00000359610:Q374H;ENSP00000397055:Q289H;ENSP00000430276:Q289H;ENSP00000359605:Q229H;ENSP00000342204:Q229H	.	Q	-	3	2	MCF2	138536018	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	5.513000	0.67037	2.490000	0.84030	0.594000	0.82650	CAG		0.348	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	Missense_Mutation	11	67	1	0	4.69e-08	1.01e-07	11	67				
DNASE1L1	1774	broad.mit.edu	37	X	153631469	153631469	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:153631469G>T	ENST00000393638.1	-	7	874	c.588C>A	c.(586-588)gaC>gaA	p.D196E	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.D196E|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	196					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCCAGCTTGTCCAGGCGCT	0.622																																						uc004fks.1		NA																	0					0						c.(586-588)GAC>GAA		deoxyribonuclease I-like 1 precursor							60.0	58.0	59.0					X																	153631469		2203	4300	6503	SO:0001583	missense	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153631469G>T	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.588C>A	X.37:g.153631469G>T	ENSP00000377255:p.Asp196Glu					RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Missense_Mutation_p.D196E|DNASE1L1_uc004fku.1_Missense_Mutation_p.D196E|DNASE1L1_uc004fkv.1_Missense_Mutation_p.D196E|DNASE1L1_uc004fkw.1_Missense_Mutation_p.D196E	p.D196E	NM_006730	NP_006721	P49184	DNSL1_HUMAN			7	779	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		196					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.588C>A	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	0.956	-0.704865	0.03255	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000451865	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.53	5.11	-8.16	0.01061	Endonuclease/exonuclease/phosphatase (2);	1.630010	0.03061	N	0.155894	T	0.18299	0.0439	N	0.20845	0.615	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18808	-1.0325	10	0.09843	T	0.71	-20.9981	1.0038	0.01482	0.2621:0.2687:0.2871:0.1822	.	196	P49184	DNSL1_HUMAN	E	196	ENSP00000358824:D196E;ENSP00000377255:D196E;ENSP00000014935:D196E;ENSP00000358823:D196E;ENSP00000358822:D196E;ENSP00000309168:D196E;ENSP00000393346:D196E	ENSP00000014935:D196E	D	-	3	2	DNASE1L1	153284663	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.842000	0.04354	-1.428000	0.01989	-0.386000	0.06593	GAC		0.622	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			22	67	1	0	6.45e-10	1.45e-09	22	67				
PLXNA3	55558	broad.mit.edu	37	X	153695707	153695707	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:153695707C>T	ENST00000369682.3	+	19	3509	c.3334C>T	c.(3334-3336)Cgc>Tgc	p.R1112C		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1112	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.R1112S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAAACGGCCCGCTCCCTCAA	0.652																																						uc004flm.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(3334-3336)CGC>TGC		plexin A3 precursor							48.0	43.0	44.0					X																	153695707		2203	4299	6502	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153695707C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3334C>T	X.37:g.153695707C>T	ENSP00000358696:p.Arg1112Cys						p.R1112C	NM_017514	NP_059984	P51805	PLXA3_HUMAN			19	3507	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1112			IPT/TIG 3.|Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3334C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771474	0.49680	.	.	ENSG00000130827	ENST00000369682	T	0.76448	-1.02	5.37	5.37	0.77165	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.059837	0.64402	D	0.000002	D	0.83876	0.5349	L	0.55481	1.735	0.58432	D	0.999995	D	0.61697	0.99	P	0.59595	0.86	D	0.85087	0.0949	10	0.59425	D	0.04	.	17.0815	0.86600	0.0:1.0:0.0:0.0	.	1112	P51805	PLXA3_HUMAN	C	1112	ENSP00000358696:R1112C	ENSP00000358696:R1112C	R	+	1	0	PLXNA3	153348901	0.997000	0.39634	0.997000	0.53966	0.371000	0.29859	4.015000	0.57152	2.385000	0.81259	0.529000	0.55759	CGC		0.652	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		9	57	0	0	0	0	9	57				
TMLHE	55217	broad.mit.edu	37	X	154736700	154736700	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:154736700G>T	ENST00000334398.3	-	6	999	c.854C>A	c.(853-855)gCa>gAa	p.A285E	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.A285E	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	285					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	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)				Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCTCAGGTGCCTTTTGAAG	0.418																																						uc004fnn.2		NA																	0				ovary(1)	1						c.(853-855)GCA>GAA		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						129.0	122.0	124.0					X																	154736700		2203	4300	6503	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154736700G>T	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.854C>A	X.37:g.154736700G>T	ENSP00000335261:p.Ala285Glu					TMLHE_uc004fno.2_Missense_Mutation_p.A285E|TMLHE_uc004fnp.3_Missense_Mutation_p.A285E	p.A285E	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN			6	1020	-	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)		285					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.854C>A	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	G	4.291	0.053236	0.08291	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.82167	-1.58;-1.58	4.42	2.62	0.31277	.	0.325948	0.32884	N	0.005536	T	0.68568	0.3015	L	0.35723	1.085	0.09310	N	1	B;B;B	0.32467	0.372;0.053;0.042	B;B;B	0.28385	0.085;0.082;0.089	T	0.55829	-0.8079	10	0.32370	T	0.25	-6.3602	3.7605	0.08602	0.219:0.0:0.5887:0.1922	.	285;285;285	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	E	285	ENSP00000335261:A285E;ENSP00000358447:A285E	ENSP00000335261:A285E	A	-	2	0	TMLHE	154389894	0.929000	0.31497	0.572000	0.28498	0.892000	0.51952	4.460000	0.60108	0.292000	0.22492	0.494000	0.49563	GCA		0.418	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		39	104	1	0	1.03e-13	2.44e-13	39	104				
MYBPC1	4604	broad.mit.edu	37	12	102040650	102040650	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:102040650delG	ENST00000550270.1	+	11	1000	c.1000delG	c.(1000-1002)gagfs	p.E334fs	MYBPC1_ENST00000536007.1_Frame_Shift_Del_p.E315fs|MYBPC1_ENST00000547509.1_Frame_Shift_Del_p.E320fs|MYBPC1_ENST00000545503.2_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000361685.2_Frame_Shift_Del_p.E359fs|MYBPC1_ENST00000452455.2_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000541119.1_Frame_Shift_Del_p.E322fs|MYBPC1_ENST00000547405.1_Frame_Shift_Del_p.E308fs|MYBPC1_ENST00000361466.2_Frame_Shift_Del_p.E359fs|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000392934.3_Frame_Shift_Del_p.E321fs|MYBPC1_ENST00000551300.1_Frame_Shift_Del_p.E235fs|MYBPC1_ENST00000441232.1_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000549145.1_Frame_Shift_Del_p.E347fs|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000360610.2_Frame_Shift_Del_p.E334fs			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	334	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGTTCCACTGAGCTCTTCGT	0.413																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1000-1002)GAGfs		myosin binding protein C, slow type isoform 3							112.0	107.0	109.0					12																	102040650		2203	4300	6503	SO:0001589	frameshift_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102040650delG		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1000delG	12.37:g.102040650delG	ENSP00000449702:p.Glu334fs					MYBPC1_uc001tif.1_Frame_Shift_Del_p.E347fs|MYBPC1_uc001tig.2_Frame_Shift_Del_p.E359fs|MYBPC1_uc010svq.1_Frame_Shift_Del_p.E321fs|MYBPC1_uc001tih.2_Frame_Shift_Del_p.E359fs|MYBPC1_uc001tij.2_Frame_Shift_Del_p.E334fs|MYBPC1_uc010svr.1_Frame_Shift_Del_p.E334fs|MYBPC1_uc010svs.1_Frame_Shift_Del_p.E334fs|MYBPC1_uc010svt.1_Frame_Shift_Del_p.E322fs|MYBPC1_uc010svu.1_Frame_Shift_Del_p.E315fs|MYBPC1_uc001tik.2_Frame_Shift_Del_p.E308fs	p.E334fs	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			11	1102	+			334			Ig-like C2-type 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Frame_Shift_Del	DEL	ENST00000550270.1	37	c.1000delG	CCDS9085.1																																																																																				0.413	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			35	52	NA	NA	NA	NA	35	52	---	---	---	---
RILPL1	353116	broad.mit.edu	37	12	124008061	124008065	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:124008061_124008065delCTCCT	ENST00000376874.4	-	2	672_676	c.437_441delAGGAG	c.(436-441)gaggagfs	p.EE146fs		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	146					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TCTGGAACTCCTCCTCTGAGAAATT	0.585																																						uc001ufe.2		NA																	0					0						c.(436-441)GAGGAGfs		Rab interacting lysosomal protein-like 1																																				SO:0001589	frameshift_variant	353116				neuroprotection	cytosol		g.chr12:124008061_124008065delCTCCT	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.437_441delAGGAG	12.37:g.124008061_124008065delCTCCT	ENSP00000366070:p.Glu146fs					RILPL1_uc010tas.1_Frame_Shift_Del_p.E146fs	p.E146fs	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	2	673_677	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		146_147			Potential.		Q66K36|Q8N1M0	Frame_Shift_Del	DEL	ENST00000376874.4	37	c.437_441delAGGAG	CCDS45006.1																																																																																				0.585	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		10	98	NA	NA	NA	NA	10	98	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70681720	70681720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:70681720delG	ENST00000377844.4	-	1	871	c.112delC	c.(112-114)ctgfs	p.L38fs	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	38					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTGTTGCAGGCAGCCTCCC	0.607																																						uc001vip.2		NA																	0					0						c.(112-114)CTGfs		kelch-like 1 protein							28.0	35.0	33.0					13																	70681720		2180	4265	6445	SO:0001589	frameshift_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681720delG	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.112delC	13.37:g.70681720delG	ENSP00000367075:p.Leu38fs					KLHL1_uc010thm.1_Frame_Shift_Del_p.L38fs|ATXN8OS_uc010aej.1_RNA	p.L38fs	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	906	-		Breast(118;0.000162)	38					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Frame_Shift_Del	DEL	ENST00000377844.4	37	c.112delC	CCDS9445.1																																																																																				0.607	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		7	24	NA	NA	NA	NA	7	24	---	---	---	---
ITGBL1	9358	broad.mit.edu	37	13	102359121	102359121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:102359121delC	ENST00000376180.3	+	9	1367	c.1148delC	c.(1147-1149)tccfs	p.S383fs	ITGBL1_ENST00000545560.2_Frame_Shift_Del_p.S242fs|ITGBL1_ENST00000376162.3_Frame_Shift_Del_p.S290fs	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	383	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACATGTTCCTGTGGTCGC	0.468																																						uc001vpb.2		NA																	0				ovary(1)|skin(1)	2						c.(1147-1149)TCCfs		integrin, beta-like 1 (with EGF-like repeat							124.0	106.0	112.0					13																	102359121		2203	4300	6503	SO:0001589	frameshift_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102359121delC	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1148delC	13.37:g.102359121delC	ENSP00000365351:p.Ser383fs					ITGBL1_uc010agb.2_Frame_Shift_Del_p.S334fs|ITGBL1_uc001vpc.3_Frame_Shift_Del_p.S242fs	p.S383fs	NM_004791	NP_004782	O95965	ITGBL_HUMAN			9	1367	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		383			VIII.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Frame_Shift_Del	DEL	ENST00000376180.3	37	c.1148delC	CCDS9499.1																																																																																				0.468	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		22	45	NA	NA	NA	NA	22	45	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30748614	30748614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:30748614delA	ENST00000262518.4	+	34	7638	c.7253delA	c.(7252-7254)catfs	p.H2418fs	SRCAP_ENST00000344771.4_Frame_Shift_Del_p.H2260fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.H2356fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2418					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATATCCGCCCATCAAACTCGC	0.647																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(7252-7254)CATfs		Snf2-related CBP activator protein							78.0	74.0	75.0					16																	30748614		2197	4300	6497	SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748614delA	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7253delA	16.37:g.30748614delA	ENSP00000262518:p.His2418fs					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.H2213fs	p.H2418fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	7638	+			2418					B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	c.7253delA	CCDS10689.2																																																																																				0.647	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	34	NA	NA	NA	NA	10	34	---	---	---	---
C2orf44	80304	broad.mit.edu	37	2	24253907	24253908	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:24253907_24253908delAA	ENST00000295148.4	-	4	2118_2119	c.2061_2062delTT	c.(2059-2064)ttttctfs	p.S688fs	C2orf44_ENST00000406895.3_3'UTR	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	688									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGTGAGAAAAAGAGTCTC	0.475			T	ALK	NSCLC																																	uc002rep.2		NA		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					0				ovary(1)|breast(1)	2						c.(2059-2064)TTTTCTfs		hypothetical protein LOC80304 isoform 1																																				SO:0001589	frameshift_variant	80304						protein binding	g.chr2:24253907_24253908delAA	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.2061_2062delTT	2.37:g.24253909_24253910delAA	ENSP00000295148:p.Ser688fs					C2orf44_uc010eya.2_3'UTR	p.F687fs	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			4	2192_2193	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		687_688					D6W532|Q8IYK0|Q9HBP5	Frame_Shift_Del	DEL	ENST00000295148.4	37	c.2061_2062delTT	CCDS1705.1																																																																																				0.475	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		9	105	NA	NA	NA	NA	9	105	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219257742	219257743	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:219257742_219257743insCT	ENST00000233202.6	+	12	1543_1544	c.1203_1204insCT	c.(1204-1206)ctcfs	p.L402fs	SLC11A1_ENST00000539932.1_Frame_Shift_Ins_p.L284fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	402					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGCCCGTGTCCTCCTCACCCG	0.634																																						uc002vhv.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1201-1206)GTCCTCfs		natural resistance-associated macrophage protein																																				SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219257742_219257743insCT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1204_1205dupCT	2.37:g.219257743_219257744dupCT	ENSP00000233202:p.Leu402fs					SLC11A1_uc010fvp.1_3'UTR|SLC11A1_uc010fvq.1_3'UTR|SLC11A1_uc010zkc.1_Frame_Shift_Ins_p.V334fs|SLC11A1_uc002vhu.1_Frame_Shift_Ins_p.V196fs|SLC11A1_uc002vhw.2_Frame_Shift_Ins_p.V283fs|SLC11A1_uc010fvr.2_Frame_Shift_Ins_p.V196fs	p.V401fs	NM_000578	NP_000569	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1543_1544	+		Renal(207;0.0474)	401_402			Helical; (Potential).		C0H5Y3	Frame_Shift_Ins	INS	ENST00000233202.6	37	c.1203_1204insCT	CCDS2415.1																																																																																				0.634	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		10	42	NA	NA	NA	NA	10	42	---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233194619	233194619	+	Frame_Shift_Del	DEL	G	G	-	rs202227137		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:233194619delG	ENST00000409307.1	+	14	1836	c.1836delG	c.(1834-1836)ccgfs	p.P613fs	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Frame_Shift_Del_p.P613fs					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGCACCCCCCGCCCCAAACAA	0.652																																						uc010fxz.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1834-1836)CCGfs		DIS3 mitotic control homolog (S.							35.0	43.0	40.0					2																	233194619		1992	4146	6138	SO:0001589	frameshift_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233194619delG	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1836delG	2.37:g.233194619delG	ENSP00000386799:p.Pro613fs					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	p.P612fs	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	15	2112	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	612						Frame_Shift_Del	DEL	ENST00000409307.1	37	c.1836delG	CCDS42834.1																																																																																				0.652	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		11	41	NA	NA	NA	NA	11	41	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140719785	140719785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140719785delC	ENST00000394576.2	+	1	1247	c.1247delC	c.(1246-1248)tccfs	p.S416fs	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	416	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAGTTTTCCTTTTACAAC	0.478																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(1246-1248)TCCfs		protocadherin gamma subfamily A, 2 isoform 1							72.0	73.0	73.0					5																	140719785		2203	4300	6503	SO:0001589	frameshift_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719785delC	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1247delC	5.37:g.140719785delC	ENSP00000378077:p.Ser416fs					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Frame_Shift_Del_p.S416fs	p.S416fs	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1432	+			416			Cadherin 4.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Frame_Shift_Del	DEL	ENST00000394576.2	37	c.1247delC	CCDS47289.1																																																																																				0.478	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		10	54	NA	NA	NA	NA	10	54	---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28413285	28413285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:28413285delG	ENST00000240093.3	+	7	2062	c.1584delG	c.(1582-1584)cagfs	p.Q528fs	FZD3_ENST00000537916.1_Frame_Shift_Del_p.Q528fs	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	528					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AGGTACTCCAGGAACCTGATT	0.418																																						uc003xgx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1582-1584)CAGfs		frizzled 3 precursor							107.0	103.0	104.0					8																	28413285		2203	4300	6503	SO:0001589	frameshift_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28413285delG	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1584delG	8.37:g.28413285delG	ENSP00000240093:p.Gln528fs					FZD3_uc010lvb.2_Frame_Shift_Del_p.Q528fs	p.Q528fs	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	7	2062	+		Ovarian(32;2.06e-05)	528			Cytoplasmic (Potential).		A8K615	Frame_Shift_Del	DEL	ENST00000240093.3	37	c.1584delG	CCDS6069.1																																																																																				0.418	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		22	80	NA	NA	NA	NA	22	80	---	---	---	---
