#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	66	0	0	0	1	0	3	66				
SMARCA5	8467	broad.mit.edu	37	4	144449073	144449073	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:144449073C>T	ENST00000283131.3	+	7	1316	c.854C>T	c.(853-855)aCa>aTa	p.T285I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTATGTGTAACATCTTATGAA	0.323																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(853-855)aCa>aTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							118.0	118.0	118.0					4																	144449073		2203	4299	6502	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144449073C>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.854C>T	4.37:g.144449073C>T	ENSP00000283131:p.Thr285Ile						p.T285I	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			7	1316	+	all_hematologic(180;0.158)		285			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000283131.3	37	c.854C>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040295	0.93630	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.95412	-3.7	5.85	5.85	0.93711	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.85777	2.775	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.98335	1.0535	10	0.87932	D	0	-3.736	20.1766	0.98178	0.0:1.0:0.0:0.0	.	285	O60264	SMCA5_HUMAN	I	285;228;228	ENSP00000283131:T285I	ENSP00000283131:T285I	T	+	2	0	SMARCA5	144668523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.725000	0.84808	2.772000	0.95346	0.655000	0.94253	ACA		0.323	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			18	44	0	0	0	1	0	18	44				
CCDC15	80071	broad.mit.edu	37	11	124857652	124857652	+	Silent	SNP	G	G	A	rs111966038		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:124857652G>A	ENST00000344762.5	+	8	1789	c.1530G>A	c.(1528-1530)ttG>ttA	p.L510L	CCDC15_ENST00000529051.1_Silent_p.L510L	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	510						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTTTTTGTCTAGAGACC	0.388													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18741	0.0		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1528-1530)ttG>ttA		coiled-coil domain containing 15							148.0	141.0	144.0					11																	124857652		1808	4073	5881	SO:0001819	synonymous_variant	80071					centrosome		g.chr11:124857652G>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1530G>A	11.37:g.124857652G>A						CCDC15_ENST00000344762.5_Silent_p.L510L	p.L510L			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1789	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	510					Q9H8U7	Silent	SNP	ENST00000344762.5	37	c.1530G>A	CCDS44756.1																																																																																				0.388	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	109	0	0	0	1	0	3	109				
COL11A1	1301	broad.mit.edu	37	1	103444627	103444627	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:103444627G>A	ENST00000370096.3	-	33	2956	c.2644C>T	c.(2644-2646)Cgt>Tgt	p.R882C	COL11A1_ENST00000512756.1_Missense_Mutation_p.R766C|COL11A1_ENST00000353414.4_Missense_Mutation_p.R843C|COL11A1_ENST00000358392.2_Missense_Mutation_p.R894C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	882	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R894G(1)|p.R882G(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTTGGACCACGCTGACCCCGA	0.363																																						ENST00000358392.2																			2	Substitution - Missense(2)	p.R894G(1)|p.R882G(1)	lung(2)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2680-2682)Cgt>Tgt		collagen, type XI, alpha 1							49.0	53.0	51.0					1																	103444627		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444627G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2644C>T	1.37:g.103444627G>A	ENSP00000359114:p.Arg882Cys					COL11A1_ENST00000370096.3_Missense_Mutation_p.R882C|COL11A1_ENST00000353414.4_Missense_Mutation_p.R843C|COL11A1_ENST00000512756.1_Missense_Mutation_p.R766C	p.R894C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	33	2997	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	882			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2680C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267976	0.80469	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96168	-3.22;-3.22;-3.22;-3.93	5.25	5.25	0.73442	.	0.118031	0.56097	D	0.000023	D	0.97458	0.9168	M	0.74546	2.27	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	0.85130	0.982;0.996;0.997;0.99;0.992	D	0.97810	1.0250	10	0.72032	D	0.01	.	19.2059	0.93729	0.0:0.0:1.0:0.0	.	766;843;894;882;102	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	882;894;843;102;766	ENSP00000359114:R882C;ENSP00000351163:R894C;ENSP00000302551:R843C;ENSP00000426533:R766C	ENSP00000302551:R843C	R	-	1	0	COL11A1	103217215	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	3.495000	0.53280	2.612000	0.88384	0.655000	0.94253	CGT		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	49	0	0	0	1	0	4	49				
TMEM213	155006	broad.mit.edu	37	7	138482839	138482839	+	5'UTR	SNP	C	C	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:138482839C>G	ENST00000442682.2	+	0	143				ATP6V0A4_ENST00000310018.2_5'UTR|TMEM213_ENST00000458494.1_5'UTR|TMEM213_ENST00000397602.3_5'UTR|TMEM213_ENST00000422794.2_Missense_Mutation_p.T48R|ATP6V0A4_ENST00000353492.4_5'UTR|TMEM213_ENST00000413208.1_5'UTR	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						GCACTCAGCACAGCCTCCAGC	0.667																																						ENST00000422794.2																			0				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						c.(142-144)aCa>aGa		transmembrane protein 213							14.0	18.0	17.0					7																	138482839		2182	4272	6454	SO:0001623	5_prime_UTR_variant	155006					integral to membrane		g.chr7:138482839C>G		CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.-11C>G	7.37:g.138482839C>G						TMEM213_ENST00000442682.2_5'UTR|TMEM213_ENST00000413208.1_5'UTR|TMEM213_ENST00000397602.3_5'UTR|ATP6V0A4_ENST00000353492.4_5'UTR|ATP6V0A4_ENST00000310018.2_5'UTR|TMEM213_ENST00000458494.1_5'UTR	p.T48R			A2RRL7	TM213_HUMAN			1	145	+			0					A4D1R3|C9JH49|C9JX41|C9K0P0	Missense_Mutation	SNP	ENST00000442682.2	37	c.143C>G	CCDS47722.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.581980	0.28180	.	.	ENSG00000214128	ENST00000422794	.	.	.	3.81	-5.67	0.02444	.	.	.	.	.	T	0.16685	0.0401	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26538	-1.0100	5	0.20046	T	0.44	-6.0971	3.41	0.07355	0.1417:0.5884:0.1315:0.1383	.	.	.	.	R	48	.	ENSP00000402388:T48R	T	+	2	0	TMEM213	138133379	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.147000	0.16202	-1.305000	0.02327	0.609000	0.83330	ACA		0.667	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347800.2	NM_001085429		3	5	0	0	0	1	0	3	5				
ASTL	431705	broad.mit.edu	37	2	96795627	96795627	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:96795627C>T	ENST00000342380.2	-	8	809	c.810G>A	c.(808-810)tcG>tcA	p.S270S		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGTGATGTCCGAGGCACTCA	0.647																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(808-810)tcG>tcA		astacin-like metallo-endopeptidase (M12 family)							45.0	52.0	50.0					2																	96795627		2203	4300	6503	SO:0001819	synonymous_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96795627C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.810G>A	2.37:g.96795627C>T							p.S270S	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			8	809	-			270						Silent	SNP	ENST00000342380.2	37	c.810G>A	CCDS33249.1																																																																																				0.647	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			4	68	0	0	0	1	0	4	68				
SEMA3G	56920	broad.mit.edu	37	3	52472026	52472026	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:52472026C>A	ENST00000231721.2	-	14	1698	c.1699G>T	c.(1699-1701)Ggc>Tgc	p.G567C		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	567					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAGGGTTGCCGTGCCGGATG	0.701																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(1699-1701)Ggc>Tgc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							26.0	26.0	26.0					3																	52472026		2201	4286	6487	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52472026C>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1699G>T	3.37:g.52472026C>A	ENSP00000231721:p.Gly567Cys						p.G567C	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	14	1698	-			567					Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.1699G>T	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405788	0.83230	.	.	ENSG00000010319	ENST00000231721	T	0.25414	1.8	5.09	5.09	0.68999	.	0.190013	0.45361	D	0.000373	T	0.61751	0.2372	H	0.95539	3.685	0.39871	D	0.973502	D	0.89917	1.0	D	0.97110	1.0	T	0.73408	-0.3992	10	0.87932	D	0	.	12.3247	0.55003	0.0:0.9194:0.0:0.0806	.	567	Q9NS98	SEM3G_HUMAN	C	567	ENSP00000231721:G567C	ENSP00000231721:G567C	G	-	1	0	SEMA3G	52447066	0.993000	0.37304	1.000000	0.80357	0.926000	0.56050	3.220000	0.51207	2.662000	0.90505	0.655000	0.94253	GGC		0.701	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		10	35	1	0	3.86212e-05	1	4.3099e-05	10	35				
CHID1	66005	broad.mit.edu	37	11	899384	899384	+	Silent	SNP	G	G	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:899384G>T	ENST00000449825.1	-	7	920	c.564C>A	c.(562-564)ggC>ggA	p.G188G	CHID1_ENST00000429789.2_Silent_p.G188G|CHID1_ENST00000436108.2_Silent_p.G188G|CHID1_ENST00000336845.5_Silent_p.G213G|CHID1_ENST00000454838.2_Silent_p.G213G|CHID1_ENST00000528581.1_Silent_p.G213G|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.G188G|CHID1_ENST00000323541.7_Silent_p.G218G	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	188					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)	p.G188G(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCACCACGAAGCCATCGAAAT	0.622																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			1	Substitution - coding silent(1)	p.G188G(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(562-564)ggC>ggA		chitinase domain containing 1							75.0	54.0	61.0					11																	899384		2200	4296	6496	SO:0001819	synonymous_variant	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:899384G>T	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.564C>A	11.37:g.899384G>T						CHID1_ENST00000454838.2_Silent_p.G213G|CHID1_ENST00000336845.5_Silent_p.G213G|CHID1_ENST00000528581.1_Silent_p.G213G|CHID1_ENST00000436108.2_Silent_p.G188G|CHID1_ENST00000429789.2_Silent_p.G188G|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323541.7_Silent_p.G218G|CHID1_ENST00000323578.8_Silent_p.G188G	p.G188G	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	7	920	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	188					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Silent	SNP	ENST00000449825.1	37	c.564C>A	CCDS7722.1																																																																																				0.622	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		4	16	1	0	0.014758	1	0.0153563	4	16				
RLTPR	146206	broad.mit.edu	37	16	67685160	67685160	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67685160G>A	ENST00000334583.6	+	23	2583	c.2255G>A	c.(2254-2256)gGt>gAt	p.G752D	RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	752					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGGCCCCAGGGTGAAGCCGCT	0.602																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2254-2256)gGt>gAt		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							53.0	60.0	58.0					16																	67685160		2148	4257	6405	SO:0001583	missense	146206							g.chr16:67685160G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2255G>A	16.37:g.67685160G>A	ENSP00000334958:p.Gly752Asp					RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D	p.G752D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	23	2583	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	752					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2255G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781927	0.70222	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13307	2.6;2.6	5.49	3.37	0.38596	.	0.241748	0.34314	N	0.004064	T	0.26048	0.0635	L	0.50333	1.59	0.36998	D	0.895126	D;D	0.71674	0.996;0.998	P;P	0.61874	0.806;0.895	T	0.10823	-1.0613	10	0.36615	T	0.2	-11.7808	12.8373	0.57780	0.0:0.3133:0.6867:0.0	.	716;752	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	D	752;716	ENSP00000334958:G752D;ENSP00000441481:G716D	ENSP00000334958:G752D	G	+	2	0	RLTPR	66242661	0.998000	0.40836	1.000000	0.80357	0.833000	0.47200	0.452000	0.21795	1.282000	0.44496	0.563000	0.77884	GGT		0.602	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		5	60	0	0	0	1	0	5	60				
LETM2	137994	broad.mit.edu	37	8	38260146	38260146	+	Missense_Mutation	SNP	G	G	A	rs376204298		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38260146G>A	ENST00000379957.4	+	7	1215	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	LETM2_ENST00000297720.5_Missense_Mutation_p.R268Q|LETM2_ENST00000528827.1_3'UTR|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000527710.1_Missense_Mutation_p.R149Q|LETM2_ENST00000523983.2_Missense_Mutation_p.R316Q|LETM2_ENST00000524874.1_Missense_Mutation_p.R315Q	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	363	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)			GAACAACTGCGACAACAGCTC	0.537																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1087-1089)cGa>cAa		leucine zipper-EF-hand containing transmembrane protein 2		G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	79.0	84.0		947,479,803	1.8	0.0	8		84	0,8600		0,0,4300	no	missense,missense,missense	LETM2	NM_001199659.1,NM_001199660.1,NM_144652.2	43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	316/445,160/289,268/397	38260146	1,13005	2203	4300	6503	SO:0001583	missense	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38260146G>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.1088G>A	8.37:g.38260146G>A	ENSP00000369291:p.Arg363Gln					LETM2_ENST00000524874.1_Missense_Mutation_p.R315Q|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Missense_Mutation_p.R316Q|LETM2_ENST00000527710.1_Missense_Mutation_p.R149Q|LETM2_ENST00000297720.5_Missense_Mutation_p.R268Q	p.R363Q	NM_001199659.1	NP_001186588.1	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)		7	1215	+	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)	363			LETM1.		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37	c.1088G>A		.	.	.	.	.	.	.	.	.	.	G	12.52	1.962879	0.34659	2.27E-4	0.0	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.63	1.78	0.24846	LETM1-like (1);	0.435366	0.25674	N	0.029056	T	0.45094	0.1325	M	0.71581	2.175	0.38884	D	0.956962	B;P;D	0.54397	0.16;0.593;0.966	B;B;P	0.46389	0.027;0.227;0.515	T	0.44019	-0.9355	10	0.56958	D	0.05	-3.9949	3.2724	0.06887	0.4112:0.0:0.399:0.1898	.	160;363;315	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	Q	268;315;363;316;149	ENSP00000297720:R268Q;ENSP00000431211:R315Q;ENSP00000369291:R363Q;ENSP00000428765:R316Q;ENSP00000434867:R149Q	ENSP00000297720:R268Q	R	+	2	0	LETM2	38379303	0.134000	0.22483	0.028000	0.17463	0.502000	0.33828	1.166000	0.31834	0.294000	0.22547	-1.131000	0.01979	CGA		0.537	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		4	57	0	0	0	1	0	4	57				
LEPR	3953	broad.mit.edu	37	1	66081866	66081866	+	Missense_Mutation	SNP	T	T	C	rs375934938		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:66081866T>C	ENST00000349533.6	+	15	2356	c.2171T>C	c.(2170-2172)gTt>gCt	p.V724A	LEPR_ENST00000371059.3_Missense_Mutation_p.V724A|LEPR_ENST00000344610.8_Missense_Mutation_p.V724A|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTGCTTCTGTTGCAAATTTT	0.388																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2170-2172)gTt>gCt		leptin receptor		T	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	1,4405	2.1+/-5.4	0,1,2202	139.0	134.0	136.0		2171,2171,2171,2171,2171,2171	-2.6	0.0	1		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	LEPR	NM_001003679.3,NM_001003680.3,NM_001198687.1,NM_001198688.1,NM_001198689.1,NM_002303.5	64,64,64,64,64,64	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign	724/897,724/959,724/959,724/907,724/897,724/1166	66081866	2,13004	2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66081866T>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2171T>C	1.37:g.66081866T>C	ENSP00000330393:p.Val724Ala					LEPR_ENST00000344610.8_Missense_Mutation_p.V724A|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A	p.V724A	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	15	2356	+			724			Fibronectin type-III 3.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2171T>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	9.243	1.038835	0.19669	2.27E-4	1.16E-4	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.5	-2.59	0.06209	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (1);	1.330700	0.04546	N	0.388924	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B;B;B	0.24132	0.006;0.004;0.098	B;B;B	0.26969	0.005;0.003;0.075	T	0.27262	-1.0079	10	0.02654	T	1	0.7985	13.2248	0.59909	0.0:0.6007:0.0:0.3993	.	724;724;724	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	A	724	ENSP00000340884:V724A;ENSP00000330393:V724A;ENSP00000360099:V724A;ENSP00000360098:V724A;ENSP00000360097:V724A	ENSP00000340884:V724A	V	+	2	0	LEPR	65854454	0.000000	0.05858	0.000000	0.03702	0.843000	0.47879	-0.141000	0.10327	-0.495000	0.06659	0.533000	0.62120	GTT		0.388	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		4	56	0	0	0	1	0	4	56				
ALX3	257	broad.mit.edu	37	1	110607211	110607211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:110607211G>A	ENST00000369792.4	-	2	679	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	198					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCTCACCTGTACCCGGGCC	0.612																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(592-594)Cag>Tag		ALX homeobox 3							39.0	37.0	38.0					1																	110607211		2203	4300	6503	SO:0001587	stop_gained	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607211G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.592C>T	1.37:g.110607211G>A	ENSP00000358807:p.Gln198*						p.Q198*	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	679	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	198					O95075|Q5T8M4	Nonsense_Mutation	SNP	ENST00000369792.4	37	c.592C>T	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761142	0.89932	.	.	ENSG00000156150	ENST00000369792	.	.	.	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.6622	0.68879	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000358807:Q198X	Q	-	1	0	ALX3	110408734	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.112000	0.64535	0.462000	0.41574	CAG		0.612	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		4	46	0	0	0	1	0	4	46				
NDUFV1	4723	broad.mit.edu	37	11	67375932	67375932	+	Silent	SNP	C	C	T	rs200863549	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:67375932C>T	ENST00000322776.6	+	2	291	c.138C>T	c.(136-138)taC>taT	p.Y46Y	RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000529927.1_Silent_p.Y37Y|C11orf72_ENST00000446232.1_5'Flank|NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000415352.2_Silent_p.Y39Y|C11orf72_ENST00000333139.3_5'Flank	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	46					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						CCAACCTGTACGGCCGCCATG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		15934	0.001		0.0	False		,,,				2504	0.001					ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.(136-138)taC>taT		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)						152.0	156.0	155.0					11																	67375932		2200	4295	6495	SO:0001819	synonymous_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67375932C>T	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.138C>T	11.37:g.67375932C>T						NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000415352.2_Silent_p.Y39Y|NDUFV1_ENST00000529927.1_Silent_p.Y37Y	p.Y46Y	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			2	291	+			46					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Silent	SNP	ENST00000322776.6	37	c.138C>T	CCDS8173.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.909	1.209021	0.22205	.	.	ENSG00000167792	ENST00000530638	T	0.77098	-1.07	4.77	-3.33	0.04958	.	.	.	.	.	T	0.79879	0.4522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78743	-0.2085	6	0.59425	D	0.04	-13.7812	10.9999	0.47600	0.0:0.3972:0.0:0.6028	.	.	.	.	M	10	ENSP00000436936:T10M	ENSP00000436936:T10M	T	+	2	0	NDUFV1	67132508	0.945000	0.32115	0.988000	0.46212	0.755000	0.42902	0.008000	0.13197	-0.477000	0.06832	-1.480000	0.00990	ACG		0.552	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		4	227	0	0	0	1	0	4	227				
TJP3	27134	broad.mit.edu	37	19	3730081	3730081	+	Missense_Mutation	SNP	G	G	A	rs140801428	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:3730081G>A	ENST00000541714.2	+	4	676	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	TJP3_ENST00000587686.1_Missense_Mutation_p.A91T|TJP3_ENST00000382008.3_Missense_Mutation_p.A72T|TJP3_ENST00000589378.1_Missense_Mutation_p.A81T|TJP3_ENST00000262968.9_Missense_Mutation_p.A91T|TJP3_ENST00000539908.2_Missense_Mutation_p.A36T	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	72	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCACCTCCGCGTTTGCCAT	0.597																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(214-216)Gcg>Acg		tight junction protein 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	149.0	132.0	138.0		271	-4.5	0.0	19	dbSNP_134	138	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TJP3	NM_014428.1	58	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	91/953	3730081	5,13001	2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3730081G>A	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.214G>A	19.37:g.3730081G>A	ENSP00000439278:p.Ala72Thr					TJP3_ENST00000589378.1_Missense_Mutation_p.A81T|TJP3_ENST00000382008.3_Missense_Mutation_p.A72T|TJP3_ENST00000587686.1_Missense_Mutation_p.A91T|TJP3_ENST00000262968.9_Missense_Mutation_p.A91T|TJP3_ENST00000539908.2_Missense_Mutation_p.A36T	p.A72T	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	4	676	+			72			PDZ 1.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.214G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.440240	0.01098	2.27E-4	4.65E-4	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	3.67	-4.52	0.03472	PDZ/DHR/GLGF (4);	0.827328	0.10879	N	0.624020	T	0.12305	0.0299	N	0.10782	0.045	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.003;0.001	T	0.19811	-1.0294	10	0.29301	T	0.29	.	5.593	0.17311	0.1645:0.0:0.3543:0.4812	.	91;91;72;72	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	T	72;36;72;91	ENSP00000439278:A72T;ENSP00000439991:A36T;ENSP00000371438:A72T;ENSP00000262968:A91T	ENSP00000262968:A91T	A	+	1	0	TJP3	3681081	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.054000	0.11826	-1.340000	0.02227	-1.962000	0.00476	GCG		0.597	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			6	148	0	0	0	1	0	6	148				
LTBP1	4052	broad.mit.edu	37	2	33488411	33488411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:33488411G>A	ENST00000404816.2	+	15	2922	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	857					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCTCCTGAAGCTTCTACGTC	0.428																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2569-2571)Gct>Act		latent transforming growth factor beta binding protein 1							145.0	141.0	142.0					2																	33488411		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33488411G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2569G>A	2.37:g.33488411G>A	ENSP00000386043:p.Ala857Thr					LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T	p.A857T			Q14766	LTBP1_HUMAN			15	2922	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	857					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2569G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836156	0.50951	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.32;-1.27;-1.31;-1.29;-1.27;1.76;0.36	5.38	4.5	0.54988	.	.	.	.	.	T	0.66963	0.2843	N	0.22421	0.69	0.80722	D	1	P;P;B;B;B;P	0.37663	0.469;0.571;0.003;0.374;0.374;0.604	B;B;B;B;B;B	0.34038	0.07;0.174;0.004;0.108;0.108;0.147	T	0.64007	-0.6508	9	0.22109	T	0.4	.	13.9881	0.64348	0.0728:0.0:0.9272:0.0	.	857;531;478;531;532;858	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	T	857;858;532;531;478;478;531;185;175	ENSP00000386043:A857T;ENSP00000346467:A858T;ENSP00000374653:A532T;ENSP00000393057:A531T;ENSP00000384373:A478T;ENSP00000385359:A478T;ENSP00000384091:A531T;ENSP00000415412:A185T;ENSP00000417591:A175T	ENSP00000346467:A858T	A	+	1	0	LTBP1	33341915	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.777000	0.47717	1.270000	0.44297	0.561000	0.74099	GCT		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		13	89	0	0	0	1	0	13	89				
ASIC2	40	broad.mit.edu	37	17	31355331	31355331	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:31355331G>A	ENST00000359872.6	-	4	1675	c.914C>T	c.(913-915)aCc>aTc	p.T305I	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Missense_Mutation_p.T356I	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	305					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCTACAGGCGGTGATGCTGTA	0.582																																						ENST00000225823.2																			0											c.(1066-1068)aCc>aTc		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						70.0	68.0	68.0					17																	31355331		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31355331G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.914C>T	17.37:g.31355331G>A	ENSP00000352934:p.Thr305Ile					ASIC2_ENST00000359872.6_Missense_Mutation_p.T305I|ASIC2_ENST00000448983.1_5'UTR	p.T356I	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			4	1939	-			305					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.1067C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102794	0.94245	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.65178	-0.14;-0.14	5.56	5.56	0.83823	Na+ channel, amiloride-sensitive, conserved site (1);	0.172981	0.50627	D	0.000104	T	0.75250	0.3824	L	0.50919	1.6	0.51482	D	0.999924	D;P	0.76494	0.999;0.848	D;P	0.85130	0.997;0.848	T	0.76258	-0.3025	10	0.52906	T	0.07	-21.143	17.0263	0.86447	0.0:0.0:1.0:0.0	.	305;356	Q16515;E9PBX2	ACCN1_HUMAN;.	I	356;305;111	ENSP00000225823:T356I;ENSP00000352934:T305I	ENSP00000225823:T356I	T	-	2	0	ACCN1	28379444	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.892000	0.87324	2.112000	0.64535	0.482000	0.46254	ACC		0.582	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		3	64	0	0	0	1	0	3	64				
PHF3	23469	broad.mit.edu	37	6	64404530	64404530	+	Silent	SNP	G	G	A	rs141874226		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:64404530G>A	ENST00000262043.3	+	6	2896	c.2556G>A	c.(2554-2556)caG>caA	p.Q852Q	PHF3_ENST00000393387.1_Silent_p.Q852Q			Q92576	PHF3_HUMAN	PHD finger protein 3	852					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAAATGGCAGCTAGCTCCTC	0.363																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2554-2556)caG>caA		PHD finger protein 3		G		1,4401	2.1+/-5.4	0,1,2200	105.0	118.0	114.0		2556	-0.8	1.0	6	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	PHF3	NM_015153.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		852/2040	64404530	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64404530G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2556G>A	6.37:g.64404530G>A						PHF3_ENST00000393387.1_Silent_p.Q852Q	p.Q852Q			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2896	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		852					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.2556G>A	CCDS4966.1																																																																																				0.363	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			3	171	0	0	0	1	0	3	171				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	15	0	0	0	1	0	3	15				
SCN2B	6327	broad.mit.edu	37	11	118039353	118039353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:118039353G>A	ENST00000278947.5	-	2	425	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	62	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGGAGAACTGTTTGTGGTTC	0.592																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(184-186)Cag>Tag		sodium channel, voltage-gated, type II, beta subunit							234.0	219.0	224.0					11																	118039353		2200	4296	6496	SO:0001587	stop_gained	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118039353G>A	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.184C>T	11.37:g.118039353G>A	ENSP00000278947:p.Gln62*						p.Q62*	NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	2	425	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	62			Ig-like C2-type.		O75302|Q9UNN3	Nonsense_Mutation	SNP	ENST00000278947.5	37	c.184C>T	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	37	6.084050	0.97267	.	.	ENSG00000149575	ENST00000278947	.	.	.	4.83	4.83	0.62350	.	0.347798	0.30630	N	0.009211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-13.0014	16.8651	0.86027	0.0:0.0:1.0:0.0	.	.	.	.	X	62	.	ENSP00000278947:Q62X	Q	-	1	0	SCN2B	117544563	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.635000	0.54309	2.486000	0.83907	0.655000	0.94253	CAG		0.592	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		7	348	0	0	0	1	0	7	348				
PDE4C	5143	broad.mit.edu	37	19	18322726	18322726	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:18322726G>A	ENST00000355502.3	-	18	2505	c.1634C>T	c.(1633-1635)gCt>gTt	p.A545V	AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.A314V|PDE4C_ENST00000594617.3_Missense_Mutation_p.A545V|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594465.3_Missense_Mutation_p.A545V|PDE4C_ENST00000262805.12_Missense_Mutation_p.A513V|PDE4C_ENST00000597297.1_Missense_Mutation_p.A315V|PDE4C_ENST00000598111.2_Missense_Mutation_p.A260V|PDE4C_ENST00000447275.3_Missense_Mutation_p.A439V			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	545					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GCTCAGATCAGCACAGTGCAC	0.642																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1633-1635)gCt>gTt		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						80.0	62.0	68.0					19																	18322726		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18322726G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1634C>T	19.37:g.18322726G>A	ENSP00000347689:p.Ala545Val					AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Missense_Mutation_p.A439V|PDE4C_ENST00000262805.11_Missense_Mutation_p.A513V|PDE4C_ENST00000539010.1_Missense_Mutation_p.A314V|PDE4C_ENST00000594465.2_Missense_Mutation_p.A545V|PDE4C_ENST00000594617.2_Missense_Mutation_p.A545V	p.A545V			Q08493	PDE4C_HUMAN			18	2505	-			545					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.1634C>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616631	0.66672	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	4.64	4.64	0.57946	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	H	0.96916	3.905	0.46279	D	0.998965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.997;0.999	D	0.95217	0.8330	10	0.87932	D	0	.	15.0054	0.71507	0.0:0.0:1.0:0.0	.	545;513;351;260	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	V	624;545;533;513;439;351;259;314;654	ENSP00000347689:A545V;ENSP00000262805:A513V;ENSP00000402091:A439V;ENSP00000439470:A314V	ENSP00000262805:A513V	A	-	2	0	PDE4C	18183726	1.000000	0.71417	0.340000	0.25575	0.083000	0.17756	9.377000	0.97184	2.137000	0.66172	0.561000	0.74099	GCT		0.642	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			3	80	0	0	0	1	0	3	80				
SULF2	55959	broad.mit.edu	37	20	46295212	46295212	+	Missense_Mutation	SNP	G	G	A	rs140175454		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:46295212G>A	ENST00000359930.4	-	12	2448	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	SULF2_ENST00000467815.1_Missense_Mutation_p.R533C|SULF2_ENST00000484875.1_Missense_Mutation_p.R533C|SULF2_ENST00000361612.4_Missense_Mutation_p.R533C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	533					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAGCGACTGCGGACATAGCTG	0.627																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1597-1599)Cgc>Tgc		sulfatase 2		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	70.0	63.0	66.0		1597,1597,1597	4.6	0.1	20	dbSNP_134	66	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	180,180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	533/871,533/871,533/868	46295212	1,13003	2203	4299	6502	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46295212G>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1597C>T	20.37:g.46295212G>A	ENSP00000353007:p.Arg533Cys					SULF2_ENST00000361612.4_Missense_Mutation_p.R533C|SULF2_ENST00000484875.1_Missense_Mutation_p.R533C|SULF2_ENST00000467815.1_Missense_Mutation_p.R533C	p.R533C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			12	2448	-			533					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1597C>T	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103211	0.37145	0.0	1.16E-4	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5	4.61	4.61	0.57282	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.270585	0.39909	N	0.001228	D	0.98963	0.9647	M	0.65498	2.005	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.75484	0.961;0.986	D	0.99004	1.0812	10	0.87932	D	0	-15.0404	12.7045	0.57054	0.0:0.0:0.8355:0.1645	.	533;533	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	C	533	ENSP00000353007:R533C;ENSP00000418290:R533C;ENSP00000354662:R533C;ENSP00000418442:R533C	ENSP00000353007:R533C	R	-	1	0	SULF2	45728619	0.990000	0.36364	0.136000	0.22124	0.016000	0.09150	3.814000	0.55643	2.397000	0.81536	0.563000	0.77884	CGC		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		3	156	0	0	0	1	0	3	156				
COL27A1	85301	broad.mit.edu	37	9	116968050	116968050	+	Silent	SNP	A	A	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:116968050A>G	ENST00000356083.3	+	9	2572	c.2181A>G	c.(2179-2181)ggA>ggG	p.G727G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	727	Collagen-like 2.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGCAGCCAGGACCTGAGGGCA	0.587																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2179-2181)ggA>ggG		collagen, type XXVII, alpha 1							66.0	72.0	70.0					9																	116968050		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116968050A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2181A>G	9.37:g.116968050A>G							p.G727G	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			9	2572	+			727			Collagen-like 2.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.2181A>G	CCDS6802.1																																																																																				0.587	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		22	55	0	0	0	1	0	22	55				
IMP4	92856	broad.mit.edu	37	2	131102232	131102232	+	Missense_Mutation	SNP	G	G	A	rs34815785	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:131102232G>A	ENST00000259239.3	+	3	851	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	CCDC115_ENST00000437688.2_5'Flank|CCDC115_ENST00000259229.2_5'Flank|CCDC115_ENST00000409127.1_5'Flank|IMP4_ENST00000409935.1_Missense_Mutation_p.R48Q	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	48	Arg-rich.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GAGTTACGCCGAGAGGCTCTG	0.552																																						ENST00000259239.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18						c.(142-144)cGa>cAa		IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	117.0	109.0	112.0		143	3.0	1.0	2	dbSNP_126	112	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IMP4	NM_033416.1	43	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	48/292	131102232	3,13003	2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131102232G>A	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.143G>A	2.37:g.131102232G>A	ENSP00000259239:p.Arg48Gln					IMP4_ENST00000409935.1_Missense_Mutation_p.R48Q	p.R48Q	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			3	851	+	Colorectal(110;0.1)		48			Arg-rich.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.143G>A	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.48|10.48	1.361232|1.361232	0.24684|0.24684	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000136718|ENSG00000136718	ENST00000452955|ENST00000259239;ENST00000409935	.|T;T	.|0.42900	.|0.96;0.96	4.77|4.77	2.98|2.98	0.34508|0.34508	.|.	.|0.156525	.|0.56097	.|D	.|0.000039	T|T	0.36663|0.36663	0.0975|0.0975	M|M	0.70595|0.70595	2.14|2.14	0.33155|0.33155	D|D	0.546267|0.546267	.|B	.|0.30526	.|0.283	.|B	.|0.17433	.|0.018	T|T	0.47736|0.47736	-0.9094|-0.9094	5|10	.|0.38643	.|T	.|0.18	-17.4283|-17.4283	9.0457|9.0457	0.36345|0.36345	0.1802:0.0:0.8198:0.0|0.1802:0.0:0.8198:0.0	rs34815785|rs34815785	.|48	.|Q96G21	.|IMP4_HUMAN	K|Q	37|48	.|ENSP00000259239:R48Q;ENSP00000386411:R48Q	.|ENSP00000259239:R48Q	E|R	+|+	1|2	0|0	IMP4|IMP4	130818702|130818702	0.783000|0.783000	0.28701|0.28701	0.999000|0.999000	0.59377|0.59377	0.064000|0.064000	0.16182|0.16182	1.095000|1.095000	0.30964|0.30964	0.741000|0.741000	0.32674|0.32674	-0.136000|-0.136000	0.14681|0.14681	GAG|CGA		0.552	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		5	82	0	0	0	1	0	5	82				
GPRASP2	114928	broad.mit.edu	37	X	101972035	101972035	+	Silent	SNP	T	T	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:101972035T>G	ENST00000535209.1	+	4	3069	c.2238T>G	c.(2236-2238)tcT>tcG	p.S746S	GPRASP2_ENST00000543253.1_Silent_p.S746S|GPRASP2_ENST00000332262.5_Silent_p.S746S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	746						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAATTTGTCTGAAAATCCTG	0.368																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(2236-2238)tcT>tcG		G protein-coupled receptor associated sorting protein 2							81.0	80.0	80.0					X																	101972035		2203	4300	6503	SO:0001819	synonymous_variant	114928							g.chrX:101972035T>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2238T>G	X.37:g.101972035T>G						GPRASP2_ENST00000535209.1_Silent_p.S746S|GPRASP2_ENST00000332262.5_Silent_p.S746S	p.S746S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	3157	+								D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.2238T>G	CCDS14501.1																																																																																				0.368	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		5	53	0	0	0	1	0	5	53				
CAMSAP3	57662	broad.mit.edu	37	19	7673045	7673045	+	Missense_Mutation	SNP	C	C	T	rs199552187		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:7673045C>T	ENST00000160298.4	+	5	756	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.R246C	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	219	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGTGGCGCGACGTGCCCCCTG	0.682																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(736-738)Cgt>Tgt		calmodulin regulated spectrin-associated protein family, member 3			CYS/ARG,CYS/ARG	1,4267		0,1,2133	44.0	52.0	49.0		736,655	1.0	0.1	19		49	0,8456		0,0,4228	yes	missense,missense	CAMSAP3	NM_001080429.2,NM_020902.1	180,180	0,1,6361	TT,TC,CC		0.0,0.0234,0.0079	probably-damaging,probably-damaging	246/1277,219/1250	7673045	1,12723	2134	4228	6362	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7673045C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.655C>T	19.37:g.7673045C>T	ENSP00000160298:p.Arg219Cys					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R219C	p.R246C	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			7	837	+			219			CH.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.736C>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	6.350	0.432743	0.12045	2.34E-4	0.0	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14893	2.47;2.48	4.89	1.02	0.19986	Calponin homology domain (1);	0.620920	0.16154	N	0.227129	T	0.12902	0.0313	L	0.40543	1.245	0.09310	N	0.999997	B;B	0.25521	0.128;0.067	B;B	0.17098	0.017;0.005	T	0.18745	-1.0327	10	0.51188	T	0.08	-9.44	8.9657	0.35874	0.2802:0.6376:0.0:0.0822	.	219;246	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	C	246;219	ENSP00000416797:R246C;ENSP00000160298:R219C	ENSP00000160298:R219C	R	+	1	0	KIAA1543	7579045	0.079000	0.21365	0.091000	0.20842	0.053000	0.15095	1.898000	0.39809	0.439000	0.26476	0.543000	0.68304	CGT		0.682	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		6	73	0	0	0	1	0	6	73				
FREM2	341640	broad.mit.edu	37	13	39357215	39357215	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:39357215G>T	ENST00000280481.7	+	5	5866	c.5650G>T	c.(5650-5652)Gtg>Ttg	p.V1884L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1884	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAGCCAACTGTGTTTATTCC	0.408																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(5650-5652)Gtg>Ttg		FRAS1 related extracellular matrix protein 2							195.0	193.0	194.0					13																	39357215		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39357215G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5650G>T	13.37:g.39357215G>T	ENSP00000280481:p.Val1884Leu						p.V1884L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	5	5866	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1884			Calx-beta 2.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.5650G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938710	0.52972	.	.	ENSG00000150893	ENST00000280481	T	0.34472	1.36	5.98	5.98	0.97165	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54689	-0.8256	10	0.30078	T	0.28	.	20.4464	0.99123	0.0:0.0:1.0:0.0	.	1884	Q5SZK8	FREM2_HUMAN	L	1884	ENSP00000280481:V1884L	ENSP00000280481:V1884L	V	+	1	0	FREM2	38255215	1.000000	0.71417	0.947000	0.38551	0.206000	0.24218	9.869000	0.99810	2.838000	0.97847	0.514000	0.50259	GTG		0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	120	1	0	0.00024832	1	0.000273152	4	120				
GUSBP1	728411	broad.mit.edu	37	5	21491446	21491446	+	RNA	SNP	G	G	T	rs371964320		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:21491446G>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										TGAATTACCAGATCTCCGTCA	0.532																																						ENST00000607545.1																			0																																																			0							g.chr5:21491446G>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491446G>T								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.532	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		3	15	1	0	0.00909568	1	0.00959407	3	15				
ADAMTS15	170689	broad.mit.edu	37	11	130343428	130343428	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:130343428C>T	ENST00000299164.2	+	8	2565	c.2565C>T	c.(2563-2565)tgC>tgT	p.C855C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	855	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	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;0.0631)|Lung(977;0.215)		CCGCGAGCTGCGGCAGTGGCC	0.721																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2563-2565)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 15							17.0	22.0	20.0					11																	130343428		2106	4148	6254	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343428C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2565C>T	11.37:g.130343428C>T							p.C855C	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2565	+	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)	855			TSP type-1 2.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.2565C>T	CCDS8488.1																																																																																				0.721	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		17	26	0	0	0	1	0	17	26				
CPAMD8	27151	broad.mit.edu	37	19	17081776	17081776	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:17081776G>T	ENST00000443236.1	-	18	2310	c.2279C>A	c.(2278-2280)aCc>aAc	p.T760N	CPAMD8_ENST00000388925.4_Missense_Mutation_p.H502Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	713						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						AGCCTCATCGGTGTAGAGGCC	0.612																																						ENST00000443236.1																			0				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						c.(2278-2280)aCc>aAc		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							49.0	53.0	51.0					19																	17081776		2058	4180	6238	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17081776G>T	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.2279C>A	19.37:g.17081776G>T	ENSP00000402505:p.Thr760Asn					CPAMD8_ENST00000388925.4_Missense_Mutation_p.H502Q	p.T760N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			18	2310	-			713					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2279C>A	CCDS42519.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.67|12.67|12.67	2.007460|2.007460|2.007460	0.35415|0.35415|0.35415	.|.|.	.|.|.	ENSG00000160111|ENSG00000160111|ENSG00000160111	ENST00000388925|ENST00000443236|ENST00000291440	T|.|.	0.52295|.|.	0.67|.|.	3.19|3.19|3.19	2.13|2.13|2.13	0.27403|0.27403|0.27403	.|.|.	.|.|0.084403	.|.|0.47093	.|.|U	.|.|0.000254	T|T|T	0.58977|0.58977|0.58977	0.2160|0.2160|0.2160	M|M|M	0.68317|0.68317|0.68317	2.08|2.08|2.08	0.27521|0.27521|0.27521	N|N|N	0.951409|0.951409|0.951409	.|.|D	.|.|0.76494	.|.|0.999	.|.|D	.|.|0.66084	.|.|0.941	T|T|T	0.52457|0.52457|0.52457	-0.8573|-0.8573|-0.8573	7|5|9	0.87932|.|0.26408	D|.|T	0|.|0.33	.|.|.	9.9884|9.9884|9.9884	0.41856|0.41856|0.41856	0.1035:0.0:0.8965:0.0|0.1035:0.0:0.8965:0.0|0.1035:0.0:0.8965:0.0	.|.|.	.|.|713	.|.|Q8IZJ3	.|.|CPMD8_HUMAN	Q|T|N	502|771|760	ENSP00000373577:H502Q|.|.	ENSP00000373577:H502Q|.|ENSP00000291440:T760N	H|P|T	-|-|-	3|1|2	2|0|0	CPAMD8|CPAMD8|CPAMD8	16942776|16942776|16942776	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.297000|0.297000|0.297000	0.24988|0.24988|0.24988	0.093000|0.093000|0.093000	0.18481|0.18481|0.18481	6.091000|6.091000|6.091000	0.71406|0.71406|0.71406	0.338000|0.338000|0.338000	0.23692|0.23692|0.23692	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAC|CCG|ACC		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		21	48	1	0	3.62473e-10	1	4.36101e-10	21	48				
LRRC8C	84230	broad.mit.edu	37	1	90178503	90178503	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:90178503A>C	ENST00000370454.4	+	3	629	c.374A>C	c.(373-375)aAg>aCg	p.K125T	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	125					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGTATGCCAAGTATTTCCCT	0.433																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(373-375)aAg>aCg		leucine rich repeat containing 8 family, member C							141.0	135.0	137.0					1																	90178503		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178503A>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.374A>C	1.37:g.90178503A>C	ENSP00000359483:p.Lys125Thr					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.K125T	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	629	+		all_lung(203;0.126)	125					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.374A>C	CCDS725.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588417	0.86851	.	.	ENSG00000171488	ENST00000370454	T	0.29397	1.57	5.84	5.84	0.93424	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.55457	-0.8138	10	0.87932	D	0	.	16.2047	0.82120	1.0:0.0:0.0:0.0	.	125	Q8TDW0	LRC8C_HUMAN	T	125	ENSP00000359483:K125T	ENSP00000359483:K125T	K	+	2	0	LRRC8C	89951091	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.335000	0.96500	2.220000	0.72140	0.528000	0.53228	AAG		0.433	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		3	159	0	0	0	1	0	3	159				
ATL2	64225	broad.mit.edu	37	2	38546101	38546101	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:38546101C>T	ENST00000378954.4	-	3	425	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S|ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000332337.4_Missense_Mutation_p.G124S	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	142	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTCACAGCCACCTCGCCAT	0.348																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(424-426)Ggc>Agc		atlastin GTPase 2							225.0	226.0	226.0					2																	38546101		2203	4300	6503	SO:0001583	missense	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38546101C>T		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.424G>A	2.37:g.38546101C>T	ENSP00000368237:p.Gly142Ser					ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S	p.G142S	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			3	425	-			142					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.424G>A	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656713	0.96724	.	.	ENSG00000119787	ENST00000378954;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000451483	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.54	5.54	0.83059	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.76494	0.998;0.997;0.994;0.999	D;D;D;D	0.80764	0.97;0.931;0.992;0.994	D	0.89933	0.4067	10	0.59425	D	0.04	-15.0307	18.4693	0.90767	0.0:1.0:0.0:0.0	.	124;124;142;142	B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;ATLA2_HUMAN	S	142;124;142;124;179	ENSP00000368237:G142S;ENSP00000333393:G124S;ENSP00000415336:G142S;ENSP00000390743:G124S;ENSP00000404921:G179S	ENSP00000333393:G124S	G	-	1	0	ATL2	38399605	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.707000	0.84623	2.580000	0.87095	0.563000	0.77884	GGC		0.348	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		24	240	0	0	0	1	0	24	240				
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76.0	89.0	84.0					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	156	0	0	0	1	0	4	156				
GPR108	56927	broad.mit.edu	37	19	6731293	6731293	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:6731293C>A	ENST00000264080.7	-	16	1377	c.1351G>T	c.(1351-1353)Gtc>Ttc	p.V451F	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Splice_Site_p.V209F	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	451						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TAGCAGATGACCTGCAGGGGC	0.677																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.e16-1		G protein-coupled receptor 108							36.0	41.0	39.0					19																	6731293		2166	4261	6427	SO:0001630	splice_region_variant	56927					integral to membrane		g.chr19:6731293C>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1351-1G>T	19.37:g.6731293C>A						GPR108_ENST00000430424.4_Splice_Site_p.V209_splice|GPR108_ENST00000598626.1_5'UTR	p.V451_splice	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			16	1377	-			451					B9EJD7	Splice_Site	SNP	ENST00000264080.7	37	c.1350_splice	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344720	0.41498	.	.	ENSG00000125734	ENST00000548402;ENST00000264080;ENST00000430424	T	0.29142	1.58	3.79	-0.576	0.11731	.	0.438758	0.20536	U	0.090408	T	0.26195	0.0639	L	0.59436	1.845	0.40634	D	0.98188	B	0.27068	0.167	B	0.30572	0.117	T	0.06789	-1.0807	10	0.49607	T	0.09	-26.4156	6.2928	0.21069	0.0:0.329:0.0:0.671	.	451	Q9NPR9	GP108_HUMAN	F	43;451;209	ENSP00000264080:V451F	ENSP00000264080:V451F	V	-	1	0	GPR108	6682293	1.000000	0.71417	0.824000	0.32777	0.092000	0.18411	1.868000	0.39509	0.053000	0.16036	0.305000	0.20034	GTC		0.677	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		Missense_Mutation	9	44	1	0	2.17888e-05	1	2.46726e-05	9	44				
DHCR7	1717	broad.mit.edu	37	11	71153385	71153385	+	Silent	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:71153385C>A	ENST00000355527.3	-	5	612	c.336G>T	c.(334-336)acG>acT	p.T112T	DHCR7_ENST00000407721.2_Silent_p.T112T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	112					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CAGGGAGAGACGTGTACAGAA	0.587									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(334-336)acG>acT		7-dehydrocholesterol reductase	NADH(DB00157)						90.0	81.0	84.0					11																	71153385		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71153385C>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.336G>T	11.37:g.71153385C>A						DHCR7_ENST00000407721.2_Silent_p.T112T	p.T112T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			5	612	-			112					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.336G>T	CCDS8200.1																																																																																				0.587	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		5	25	1	0	0.0381472	1	0.0386492	5	25				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.L237L			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G						HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L	p.L237L			Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	38	0	0	0	1	0	4	38				
PRPF8	10594	broad.mit.edu	37	17	1563822	1563822	+	Silent	SNP	G	G	A	rs148287873		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:1563822G>A	ENST00000572621.1	-	29	4954	c.4689C>T	c.(4687-4689)caC>caT	p.H1563H	PRPF8_ENST00000304992.6_Silent_p.H1563H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1563	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGATCTTGCCGTGCATGAAGA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22986	0.0		0.0	False		,,,				2504	0.0					ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4687-4689)caC>caT		pre-mRNA processing factor 8		G		6,4400	11.4+/-27.6	0,6,2197	162.0	158.0	160.0		4689	-5.9	0.9	17	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous	PRPF8	NM_006445.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		1563/2336	1563822	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563822G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4689C>T	17.37:g.1563822G>A						PRPF8_ENST00000304992.6_Silent_p.H1563H	p.H1563H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	29	4954	-			1563					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.4689C>T	CCDS11010.1																																																																																				0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			4	177	0	0	0	1	0	4	177				
FBXO46	23403	broad.mit.edu	37	19	46215458	46215458	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:46215458G>A	ENST00000317683.3	-	2	1429	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	432										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGTCTGGGCCGGGCGCAGTGG	0.716																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(1294-1296)ccC>ccT		F-box protein 46							6.0	7.0	7.0					19																	46215458		1726	3783	5509	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46215458G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1296C>T	19.37:g.46215458G>A							p.P432P	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1429	-		Ovarian(192;0.179)|all_neural(266;0.224)	432						Silent	SNP	ENST00000317683.3	37	c.1296C>T	CCDS46116.1																																																																																				0.716	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		2	6	0	0	0	1	0	2	6				
DCHS2	54798	broad.mit.edu	37	4	155253865	155253865	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:155253865G>A	ENST00000357232.4	-	9	1997	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	DCHS2_ENST00000339452.1_Silent_p.P1165P|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	666	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCGTCCTCGGGGATCCAAG	0.443																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1996-1998)ccC>ccT		dachsous cadherin-related 2							91.0	97.0	95.0					4																	155253865		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253865G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1998C>T	4.37:g.155253865G>A						DCHS2_ENST00000339452.1_Silent_p.P1165P	p.P666P	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1997	-	all_hematologic(180;0.208)	Renal(120;0.0854)	666			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1998C>T	CCDS3785.1																																																																																				0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	148	0	0	0	1	0	7	148				
GCK	2645	broad.mit.edu	37	7	44186174	44186174	+	Missense_Mutation	SNP	G	G	A	rs193922336		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:44186174G>A	ENST00000403799.3	-	8	1376	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	GCK_ENST00000395796.3_Missense_Mutation_p.R302W|GCK_ENST00000437084.1_Missense_Mutation_p.R286W|GCK_ENST00000345378.2_Missense_Mutation_p.R304W	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	303	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGCACAAGCCGCACCAGCTCG	0.622																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37	GRCh37	CM022210	GCK	M		c.(907-909)Cgg>Tgg		glucokinase (hexokinase 4)							102.0	90.0	94.0					7																	44186174		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44186174G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.907C>T	7.37:g.44186174G>A	ENSP00000384247:p.Arg303Trp					GCK_ENST00000437084.1_Missense_Mutation_p.R286W|GCK_ENST00000345378.2_Missense_Mutation_p.R304W|GCK_ENST00000395796.3_Missense_Mutation_p.R302W	p.R303W	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			8	1376	-			303					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.907C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089922	0.76756	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	4.77	3.78	0.43462	Hexokinase, C-terminal (1);	0.110586	0.56097	D	0.000026	D	0.99515	0.9827	H	0.97659	4.05	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.993	D	0.97794	1.0240	10	0.87932	D	0	-12.9661	13.6137	0.62094	0.0:0.0:0.7463:0.2536	.	303;304;302	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	W	303;302;304;286	ENSP00000384247:R303W;ENSP00000379142:R302W;ENSP00000223366:R304W;ENSP00000402840:R286W	ENSP00000223366:R304W	R	-	1	2	GCK	44152699	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	3.204000	0.51082	2.191000	0.70037	0.591000	0.81541	CGG		0.622	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			3	111	0	0	0	1	0	3	111				
OR56A1	120796	broad.mit.edu	37	11	6048918	6048918	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:6048918G>C	ENST00000316650.5	-	1	53	c.17C>G	c.(16-18)gCg>gGg	p.A6G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A6V(1)		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)		GCTGGGTGACGCCATAGGCTG	0.488																																						ENST00000316650.5																			1	Substitution - Missense(1)	p.A6V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(16-18)gCg>gGg		olfactory receptor, family 56, subfamily A, member 1							118.0	120.0	119.0					11																	6048918		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048918G>C	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.17C>G	11.37:g.6048918G>C	ENSP00000321246:p.Ala6Gly						p.A6G	NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	53	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	6					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.17C>G	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	9.379	1.072388	0.20147	.	.	ENSG00000180934	ENST00000316650	T	0.37584	1.19	3.55	0.362	0.16113	.	0.859973	0.09626	U	0.776893	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.23404	-1.0189	10	0.66056	D	0.02	.	4.9723	0.14123	0.1055:0.0:0.5266:0.368	.	6	Q8NGH5	O56A1_HUMAN	G	6	ENSP00000321246:A6G	ENSP00000321246:A6G	A	-	2	0	OR56A1	6005494	0.000000	0.05858	0.006000	0.13384	0.237000	0.25408	0.092000	0.15066	-0.023000	0.13963	0.563000	0.77884	GCG		0.488	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		31	65	0	0	0	1	0	31	65				
LAMC3	10319	broad.mit.edu	37	9	133952674	133952674	+	Missense_Mutation	SNP	G	G	A	rs113975085	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:133952674G>A	ENST00000361069.4	+	22	3863	c.3730G>A	c.(3730-3732)Gca>Aca	p.A1244T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1244	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAAGTTGGCGCAGATACAGC	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		17551	0.002		0.0	False		,,,				2504	0.0					ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(3730-3732)Gca>Aca		laminin, gamma 3		G	THR/ALA	0,4406		0,0,2203	76.0	68.0	71.0		3730	-7.8	0.0	9	dbSNP_132	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LAMC3	NM_006059.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1244/1576	133952674	1,13005	2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133952674G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3730G>A	9.37:g.133952674G>A	ENSP00000354360:p.Ala1244Thr					LAMC3_ENST00000480883.1_Intron	p.A1244T	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	22	3863	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1244			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.3730G>A	CCDS6938.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.30	2.194638	0.38806	0.0	1.16E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.28069	1.63	4.72	-7.85	0.01192	.	2.733290	0.01218	N	0.008031	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.16748	-1.0392	10	0.39692	T	0.17	.	5.6818	0.17780	0.4842:0.0:0.3082:0.2076	.	1244	Q9Y6N6	LAMC3_HUMAN	T	1244	ENSP00000354360:A1244T	ENSP00000347156:A1244T	A	+	1	0	LAMC3	132942495	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.510000	0.06328	-1.265000	0.02449	-0.333000	0.08304	GCA		0.617	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		5	99	0	0	0	1	0	5	99				
HAO1	54363	broad.mit.edu	37	20	7875791	7875791	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:7875791C>T	ENST00000378789.3	-	5	853	c.802G>A	c.(802-804)Gtg>Atg	p.V268M		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	268	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGCTGGCACCCCATCGAGT	0.488																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(802-804)Gtg>Atg		hydroxyacid oxidase (glycolate oxidase) 1							124.0	117.0	119.0					20																	7875791		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7875791C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.802G>A	20.37:g.7875791C>T	ENSP00000368066:p.Val268Met						p.V268M	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			5	853	-			268			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.802G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930394	0.92389	.	.	ENSG00000101323	ENST00000378789	T	0.30182	1.54	5.97	5.97	0.96955	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.72894	2.215	0.80722	D	1	P;P	0.37423	0.594;0.594	P;P	0.53035	0.716;0.716	T	0.50931	-0.8769	10	0.72032	D	0.01	-24.99	20.4388	0.99107	0.0:1.0:0.0:0.0	.	268;268	A8K058;Q9UJM8	.;HAOX1_HUMAN	M	268	ENSP00000368066:V268M	ENSP00000368066:V268M	V	-	1	0	HAO1	7823791	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.530000	0.67141	2.836000	0.97738	0.655000	0.94253	GTG		0.488	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			35	107	0	0	0	1	0	35	107				
OR2H2	7932	broad.mit.edu	37	6	29555896	29555896	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:29555896T>G	ENST00000383640.2	+	1	214	c.175T>G	c.(175-177)Ttt>Gtt	p.F59V	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	59					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	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)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCCAATGTACTTTTTCCTCTC	0.527																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(175-177)Ttt>Gtt		olfactory receptor, family 2, subfamily H, member 2							213.0	180.0	192.0					6																	29555896		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29555896T>G		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.175T>G	6.37:g.29555896T>G	ENSP00000373136:p.Phe59Val					GABBR1_ENST00000355973.3_Intron	p.F59V	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	214	+			59					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.175T>G	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301950	0.60195	.	.	ENSG00000204657	ENST00000383640	T	0.00555	6.63	4.32	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000753	T	0.00552	0.0018	H	0.95043	3.615	0.26401	N	0.976416	P	0.41624	0.757	B	0.39185	0.293	T	0.39563	-0.9608	10	0.72032	D	0.01	.	9.2177	0.37358	0.1627:0.0:0.0:0.8373	.	59	O95918	OR2H2_HUMAN	V	59	ENSP00000373136:F59V	ENSP00000373136:F59V	F	+	1	0	OR2H2	29663875	0.996000	0.38824	0.999000	0.59377	0.993000	0.82548	1.084000	0.30828	0.673000	0.31224	0.477000	0.44152	TTT		0.527	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			15	108	0	0	0	1	0	15	108				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	151	0	0	0	1	0	4	151				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	151	0	0	0	1	0	4	151				
PCDHGA3	56112	broad.mit.edu	37	5	140725804	140725804	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:140725804C>T	ENST00000253812.6	+	1	2204	c.2204C>T	c.(2203-2205)aCg>aTg	p.T735M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	735					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCGAGTACGCCCGGCTCG	0.672																																						ENST00000253812.6																			0				breast(1)	1						c.(2203-2205)aCg>aTg									55.0	61.0	59.0					5																	140725804		2203	4300	6503	SO:0001583	missense	0							g.chr5:140725804C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2204C>T	5.37:g.140725804C>T	ENSP00000253812:p.Thr735Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T735M	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2204	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.2204C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	8.776	0.927193	0.18056	.	.	ENSG00000254245	ENST00000253812	T	0.46819	0.86	5.33	1.49	0.22878	.	1.471000	0.05849	U	0.620860	T	0.17619	0.0423	N	0.01109	-1.01	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.13926	-1.0491	10	0.33940	T	0.23	.	2.011	0.03488	0.1297:0.1443:0.135:0.591	.	735;735	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	735	ENSP00000253812:T735M	ENSP00000253812:T735M	T	+	2	0	PCDHGA3	140705988	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	0.510000	0.22723	0.074000	0.16767	-0.414000	0.06135	ACG		0.672	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		5	93	0	0	0	1	0	5	93				
XIRP2	129446	broad.mit.edu	37	2	168105325	168105325	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:168105325A>T	ENST00000409195.1	+	9	7512	c.7423A>T	c.(7423-7425)Acg>Tcg	p.T2475S	XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2300					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTGAACACACGGAGACAAA	0.403																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7423-7425)Acg>Tcg		xin actin-binding repeat containing 2							80.0	78.0	79.0					2																	168105325		1922	4138	6060	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105325A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7423A>T	2.37:g.168105325A>T	ENSP00000386840:p.Thr2475Ser					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	p.T2475S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7512	+			2300					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7423A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	4.961	0.178450	0.09443	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02446	4.29;4.29;4.29	5.74	1.78	0.24846	.	0.864475	0.10373	N	0.682606	T	0.03053	0.0090	L	0.56769	1.78	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.01	B;B;B	0.18561	0.01;0.022;0.022	T	0.51156	-0.8741	10	0.05833	T	0.94	0.2262	5.262	0.15578	0.5586:0.2871:0.1543:0.0	.	2300;2300;2253	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2475;2475;2253	ENSP00000386840:T2475S;ENSP00000295237:T2475S;ENSP00000387255:T2253S	ENSP00000295237:T2475S	T	+	1	0	XIRP2	167813571	0.000000	0.05858	0.013000	0.15412	0.369000	0.29798	0.639000	0.24690	0.419000	0.25927	0.523000	0.50628	ACG		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	47	0	0	0	1	0	5	47				
KCNN3	3782	broad.mit.edu	37	1	154841766	154841766	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:154841766C>T	ENST00000271915.4	-	1	990	c.675G>A	c.(673-675)gaG>gaA	p.E225E	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	230					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CATGGTTGTCCTCCCGGGAGG	0.647																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(673-675)gaG>gaA		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							76.0	72.0	73.0					1																	154841766		2203	4300	6503	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154841766C>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.675G>A	1.37:g.154841766C>T							p.E225E	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	990	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		230					B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.675G>A	CCDS30880.1																																																																																				0.647	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	56	0	0	0	1	0	3	56				
FAM47A	158724	broad.mit.edu	37	X	34150170	34150170	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:34150170A>T	ENST00000346193.3	-	1	277	c.226T>A	c.(226-228)Ttt>Att	p.F76I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	76										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGTAAAAACTCGTCACGG	0.532																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(226-228)Ttt>Att		family with sequence similarity 47, member A							90.0	86.0	87.0					X																	34150170		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150170A>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.226T>A	X.37:g.34150170A>T	ENSP00000345029:p.Phe76Ile						p.F76I	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	277	-			76					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.226T>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.771508	0.31320	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	1.1	-1.53	0.08611	.	.	.	.	.	T	0.20861	0.0502	L	0.55481	1.735	0.09310	N	1	B	0.31680	0.335	B	0.38616	0.277	T	0.34527	-0.9825	9	0.59425	D	0.04	.	4.9947	0.14233	0.5975:0.4025:0.0:0.0	.	76	Q5JRC9	FA47A_HUMAN	I	76	ENSP00000345029:F76I	ENSP00000345029:F76I	F	-	1	0	FAM47A	34060091	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.520000	0.06252	-0.599000	0.05798	-0.691000	0.03719	TTT		0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		7	28	0	0	0	1	0	7	28				
OR5D18	219438	broad.mit.edu	37	11	55587340	55587340	+	Missense_Mutation	SNP	G	G	A	rs142474714		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:55587340G>A	ENST00000333976.4	+	1	255	c.235G>A	c.(235-237)Gct>Act	p.A79T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A79S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTCCATCATTGCTCCCAAGAT	0.408																																						ENST00000333976.4																			1	Substitution - Missense(1)	p.A79S(1)	lung(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(235-237)Gct>Act		olfactory receptor, family 5, subfamily D, member 18							242.0	232.0	235.0					11																	55587340		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587340G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.235G>A	11.37:g.55587340G>A	ENSP00000335025:p.Ala79Thr						p.A79T	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	255	+		all_epithelial(135;0.208)	79					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.235G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	1.279	-0.610959	0.03690	.	.	ENSG00000186119	ENST00000333976	T	0.01197	5.19	4.94	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.620209	0.13471	N	0.385440	T	0.00524	0.0017	N	0.01817	-0.705	0.09310	N	0.999998	B	0.06786	0.001	B	0.10450	0.005	T	0.43327	-0.9398	10	0.02654	T	1	-8.9258	7.9752	0.30151	0.257:0.0:0.743:0.0	.	79	Q8NGL1	OR5DI_HUMAN	T	79	ENSP00000335025:A79T	ENSP00000335025:A79T	A	+	1	0	OR5D18	55343916	0.000000	0.05858	0.856000	0.33681	0.834000	0.47266	-0.625000	0.05534	1.232000	0.43678	0.632000	0.83419	GCT		0.408	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		17	218	0	0	0	1	0	17	218				
ZP1	22917	broad.mit.edu	37	11	60640728	60640728	+	Silent	SNP	C	C	T	rs151198562		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:60640728C>T	ENST00000278853.5	+	7	1206	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	402	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.P402P(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACCCAGCCCGGCCCCCTGC	0.602																																						ENST00000278853.5																			1	Substitution - coding silent(1)	p.P402P(1)	large_intestine(1)	breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1204-1206)ccC>ccT		zona pellucida glycoprotein 1 (sperm receptor)																																				SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60640728C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1206C>T	11.37:g.60640728C>T							p.P402P	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			7	1206	+			402			ZP.			Silent	SNP	ENST00000278853.5	37	c.1206C>T	CCDS31572.1																																																																																				0.602	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		33	184	0	0	0	1	0	33	184				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs564183572		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612																																						ENST00000600376.1																			0																																																			0							g.chr10:81443821C>G																													10.37:g.81443821C>G						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.612	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			3	27	0	0	0	1	0	3	27				
FBXL2	25827	broad.mit.edu	37	3	33414823	33414823	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:33414823C>A	ENST00000484457.1	+	7	522	c.431C>A	c.(430-432)aCa>aAa	p.T144K	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000507198.1_Intron	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTCTATTACAAACAGCTCC	0.428																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(430-432)aCa>aAa		F-box and leucine-rich repeat protein 2							174.0	176.0	176.0					3																	33414823		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33414823C>A	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.431C>A	3.37:g.33414823C>A	ENSP00000417601:p.Thr144Lys					FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Intron	p.T144K	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			7	522	+			144						Missense_Mutation	SNP	ENST00000484457.1	37	c.431C>A	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975025	0.92919	.	.	ENSG00000153558	ENST00000484457;ENST00000538181	T;T	0.29655	1.56;1.56	5.18	5.18	0.71444	.	0.147402	0.64402	D	0.000013	T	0.64583	0.2611	M	0.90922	3.16	0.80722	D	1	D;D;P	0.60575	0.988;0.98;0.955	D;P;P	0.65323	0.934;0.833;0.707	T	0.72811	-0.4180	10	0.87932	D	0	.	19.649	0.95793	0.0:1.0:0.0:0.0	.	60;39;144	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	K	144;60	ENSP00000417601:T144K;ENSP00000440794:T60K	ENSP00000417601:T144K	T	+	2	0	FBXL2	33389827	1.000000	0.71417	0.937000	0.37676	0.994000	0.84299	4.934000	0.63491	2.816000	0.96949	0.644000	0.83932	ACA		0.428	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		17	243	1	0	5.35267e-07	1	6.24478e-07	17	243				
SERPINA6	866	broad.mit.edu	37	14	94776106	94776106	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr14:94776106G>A	ENST00000341584.3	-	3	997	c.851C>T	c.(850-852)aCg>aTg	p.T284M		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	284					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCTGTTAATCGTGTCCCGGCT	0.552																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(850-852)aCg>aTg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						155.0	107.0	123.0					14																	94776106		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94776106G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.851C>T	14.37:g.94776106G>A	ENSP00000342850:p.Thr284Met						p.T284M	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	997	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	284					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.851C>T	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065532	0.36470	.	.	ENSG00000170099	ENST00000341584	D	0.84660	-1.88	5.43	4.54	0.55810	Serpin domain (3);	0.297399	0.27613	N	0.018596	D	0.88629	0.6488	M	0.68593	2.085	0.33458	D	0.584598	D	0.71674	0.998	D	0.65323	0.934	D	0.88981	0.3408	10	0.27082	T	0.32	.	8.6564	0.34066	0.1408:0.1268:0.7324:0.0	.	284	P08185	CBG_HUMAN	M	284	ENSP00000342850:T284M	ENSP00000342850:T284M	T	-	2	0	SERPINA6	93845859	1.000000	0.71417	0.825000	0.32803	0.075000	0.17131	3.424000	0.52764	1.435000	0.47434	0.563000	0.77884	ACG		0.552	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		5	145	0	0	0	1	0	5	145				
ADAM9	8754	broad.mit.edu	37	8	38880740	38880740	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880740G>A	ENST00000487273.2	+	9	888	c.810G>A	c.(808-810)ctG>ctA	p.L270L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	270	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATGGAAACCTGATCAACATAG	0.413																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(808-810)ctG>ctA		ADAM metallopeptidase domain 9							167.0	151.0	156.0					8																	38880740		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880740G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.810G>A	8.37:g.38880740G>A							p.L270L	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	888	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	270			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.810G>A	CCDS6112.1																																																																																				0.413	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			5	94	0	0	0	1	0	5	94				
KIAA0930	23313	broad.mit.edu	37	22	45595785	45595785	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr22:45595785G>A	ENST00000336156.5	-	8	1049	c.984C>T	c.(982-984)agC>agT	p.S328S	MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000251993.7_Silent_p.S333S|KIAA0930_ENST00000443310.3_Silent_p.S310S|KIAA0930_ENST00000391627.2_Silent_p.S294S	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	328										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						AGAACTCCTCGCTGTCGTTGG	0.612																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(982-984)agC>agT		KIAA0930							98.0	91.0	94.0					22																	45595785		2203	4300	6503	SO:0001819	synonymous_variant	23313						protein binding	g.chr22:45595785G>A	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.984C>T	22.37:g.45595785G>A						KIAA0930_ENST00000391627.2_Silent_p.S294S|KIAA0930_ENST00000443310.3_Silent_p.S310S|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000251993.7_Silent_p.S333S	p.S328S	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			8	1049	-			328					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Silent	SNP	ENST00000336156.5	37	c.984C>T	CCDS33665.1																																																																																				0.612	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		12	118	0	0	0	1	0	12	118				
DDX60	55601	broad.mit.edu	37	4	169227602	169227602	+	Silent	SNP	T	T	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:169227602T>C	ENST00000393743.3	-	5	825	c.534A>G	c.(532-534)caA>caG	p.Q178Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	178					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATCAGATTCTTGCCCTGAGG	0.398																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(532-534)caA>caG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							87.0	88.0	88.0					4																	169227602		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169227602T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.534A>G	4.37:g.169227602T>C							p.Q178Q	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	5	825	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	178					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.534A>G	CCDS34097.1																																																																																				0.398	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		6	47	0	0	0	1	0	6	47				
KIAA1468	57614	broad.mit.edu	37	18	59919898	59919898	+	Splice_Site	SNP	C	C	A	rs386352321		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr18:59919898C>A	ENST00000398130.2	+	12	1967	c.1735C>A	c.(1735-1737)Caa>Aaa	p.Q579K	KIAA1468_ENST00000256858.6_Splice_Site_p.Q579K	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	579								p.Q579K(3)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATTTTTCAGGCAAATGATACT	0.383																																						ENST00000256858.6																			3	Substitution - Missense(3)	p.Q579K(3)	lung(1)|endometrium(1)|kidney(1)	autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.e12-1		KIAA1468							101.0	94.0	96.0					18																	59919898		2203	4300	6503	SO:0001630	splice_region_variant	57614						binding	g.chr18:59919898C>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1734-1C>A	18.37:g.59919898C>A						KIAA1468_ENST00000398130.2_Splice_Site_p.Q579_splice	p.Q579_splice			Q9P260	K1468_HUMAN			12	1983	+		Colorectal(73;0.186)	579						Splice_Site	SNP	ENST00000398130.2	37	c.1733_splice	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958076	0.53400	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.40476	1.03;1.03	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	L	0.41710	1.295	0.80722	D	1	B;D;D	0.76494	0.007;0.999;0.998	B;D;D	0.71184	0.059;0.972;0.969	T	0.49143	-0.8970	9	.	.	.	-11.5654	20.0621	0.97678	0.0:1.0:0.0:0.0	.	579;579;223	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	K	579	ENSP00000381198:Q579K;ENSP00000256858:Q579K	.	Q	+	1	0	KIAA1468	58070878	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.830000	0.69324	2.750000	0.94351	0.655000	0.94253	CAA		0.383	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854	Missense_Mutation	6	48	1	0	2.0095e-06	1	2.30942e-06	6	48				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp					CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		3	146	0	0	0	1	0	3	146				
ZNF652	22834	broad.mit.edu	37	17	47394309	47394309	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:47394309A>G	ENST00000362063.2	-	2	1097	c.779T>C	c.(778-780)cTg>cCg	p.L260P	ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTGCTTCTCCAGGTACCAGCG	0.478																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(778-780)cTg>cCg		zinc finger protein 652							175.0	148.0	157.0					17																	47394309		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394309A>G	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.779T>C	17.37:g.47394309A>G	ENSP00000354686:p.Leu260Pro					ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P	p.L260P	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1097	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		260					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.779T>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578130	0.65878	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.75260	-0.92;-0.92	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91406	0.5147	10	0.87932	D	0	-10.5087	15.4338	0.75125	1.0:0.0:0.0:0.0	.	260	Q9Y2D9	ZN652_HUMAN	P	260	ENSP00000354686:L260P;ENSP00000416305:L260P	ENSP00000354686:L260P	L	-	2	0	ZNF652	44749308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.132000	0.65825	0.533000	0.62120	CTG		0.478	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		10	59	0	0	0	1	0	10	59				
TGM4	7047	broad.mit.edu	37	3	44943340	44943340	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:44943340C>T	ENST00000296125.4	+	8	956	c.888C>T	c.(886-888)caC>caT	p.H296H	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	296					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTCAGCTCACGACACAGAAA	0.552																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(886-888)caC>caT		transglutaminase 4	L-Glutamine(DB00130)						128.0	114.0	119.0					3																	44943340		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943340C>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.888C>T	3.37:g.44943340C>T							p.H296H	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	8	956	+			296					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.888C>T	CCDS2723.1																																																																																				0.552	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		9	37	0	0	0	1	0	9	37				
MUC17	140453	broad.mit.edu	37	7	100681323	100681323	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:100681323G>A	ENST00000306151.4	+	3	6690	c.6626G>A	c.(6625-6627)aGc>aAc	p.S2209N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2209	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGTACCAGCATGCCAACC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6625-6627)aGc>aAc		mucin 17, cell surface associated							331.0	327.0	328.0					7																	100681323		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681323G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6626G>A	7.37:g.100681323G>A	ENSP00000302716:p.Ser2209Asn						p.S2209N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6690	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2209			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6626G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.575097	0.03882	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.762	-1.52	0.08637	.	.	.	.	.	T	0.01695	0.0054	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.48490	-0.9031	9	0.23302	T	0.38	.	5.6696	0.17715	0.0:0.3383:0.6616:0.0	.	2209	Q685J3	MUC17_HUMAN	N	2209	ENSP00000302716:S2209N	ENSP00000302716:S2209N	S	+	2	0	MUC17	100468043	0.000000	0.05858	0.015000	0.15790	0.016000	0.09150	-0.102000	0.10956	0.132000	0.18615	0.134000	0.15878	AGC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		63	464	0	0	0	1	0	63	464				
ADAM9	8754	broad.mit.edu	37	8	38880724	38880724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880724G>A	ENST00000487273.2	+	9	872	c.794G>A	c.(793-795)tGg>tAg	p.W265*		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	265	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTGGAGATTTGGACCAATGGA	0.393																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(793-795)tGg>tAg		ADAM metallopeptidase domain 9							160.0	146.0	151.0					8																	38880724		2203	4300	6503	SO:0001587	stop_gained	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880724G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.794G>A	8.37:g.38880724G>A	ENSP00000419446:p.Trp265*						p.W265*	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	872	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	265			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Nonsense_Mutation	SNP	ENST00000487273.2	37	c.794G>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	38	6.638824	0.97726	.	.	ENSG00000168615	ENST00000487273	.	.	.	5.91	5.91	0.95273	.	0.104081	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2946	0.98546	0.0:0.0:1.0:0.0	.	.	.	.	X	265	.	ENSP00000369249:W265X	W	+	2	0	ADAM9	38999881	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.358000	0.97109	2.804000	0.96469	0.462000	0.41574	TGG		0.393	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			4	84	0	0	0	1	0	4	84				
ADAMTS12	81792	broad.mit.edu	37	5	33630978	33630978	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:33630978C>T	ENST00000504830.1	-	13	2264	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	643	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCAGAAAACTGGCCATCTA	0.463										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1927-1929)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							104.0	104.0	104.0					5																	33630978		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33630978C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1929G>A	5.37:g.33630978C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	p.Q643Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			13	2264	-			643			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1929G>A	CCDS34140.1																																																																																				0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		8	48	0	0	0	1	0	8	48				
OLFM4	10562	broad.mit.edu	37	13	53624777	53624777	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:53624777C>G	ENST00000219022.2	+	5	1482	c.1404C>G	c.(1402-1404)gaC>gaG	p.D468E		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	468	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCAAACTAGACATTGTAATGC	0.383																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1402-1404)gaC>gaG		olfactomedin 4							114.0	112.0	112.0					13																	53624777		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624777C>G	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1404C>G	13.37:g.53624777C>G	ENSP00000219022:p.Asp468Glu						p.D468E	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1482	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	468			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1404C>G	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942955	0.53079	.	.	ENSG00000102837	ENST00000219022	D	0.88741	-2.42	5.64	0.888	0.19206	Olfactomedin-like (3);	2.241280	0.02182	N	0.060531	T	0.81163	0.4765	N	0.25992	0.78	0.09310	N	0.999997	B	0.06786	0.001	B	0.15052	0.012	T	0.63116	-0.6709	10	0.31617	T	0.26	.	2.5717	0.04796	0.1175:0.4777:0.129:0.2758	.	468	Q6UX06	OLFM4_HUMAN	E	468	ENSP00000219022:D468E	ENSP00000219022:D468E	D	+	3	2	OLFM4	52522778	0.000000	0.05858	0.008000	0.14137	0.742000	0.42306	-0.451000	0.06795	0.044000	0.15775	0.585000	0.79938	GAC		0.383	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		21	33	0	0	0	1	0	21	33				
LDLRAD1	388633	broad.mit.edu	37	1	54474773	54474773	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:54474773C>A	ENST00000371360.1	-	6	517	c.500G>T	c.(499-501)tGg>tTg	p.W167L	LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	167	LDL-receptor class A 3; atypical. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						ACAGCGCCACCACCCAGGGCC	0.592																																						ENST00000371360.1																			0				large_intestine(3)|prostate(1)|skin(3)	7						c.(499-501)tGg>tTg		low density lipoprotein receptor class A domain containing 1							102.0	97.0	99.0					1																	54474773		2203	4300	6503	SO:0001583	missense	388633					integral to membrane	receptor activity	g.chr1:54474773C>A		CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.500G>T	1.37:g.54474773C>A	ENSP00000360411:p.Trp167Leu					LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L	p.W167L	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN			6	517	-			167			LDL-receptor class A 3; atypical.		A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	ENST00000371360.1	37	c.500G>T	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548508	0.65311	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.5	4.5	0.54988	.	0.000000	0.52532	D	0.000074	D	0.91304	0.7258	M	0.67953	2.075	0.48830	D	0.999717	D;D	0.89917	0.985;1.0	P;D	0.71870	0.527;0.975	D	0.88563	0.3124	10	0.15066	T	0.55	-20.3964	16.1603	0.81700	0.0:1.0:0.0:0.0	.	124;167	B7ZME3;Q5T700	.;LRAD1_HUMAN	L	78;167;124;128	ENSP00000360413:W78L;ENSP00000360411:W167L;ENSP00000445871:W124L;ENSP00000411017:W128L	ENSP00000360411:W167L	W	-	2	0	LDLRAD1	54247361	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.081000	0.64444	2.348000	0.79779	0.655000	0.94253	TGG		0.592	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978		3	158	1	0	0.0215528	1	0.0221275	3	158				
MYBPHL	343263	broad.mit.edu	37	1	109840068	109840068	+	Missense_Mutation	SNP	C	C	T	rs201690316|rs34962971		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:109840068C>T	ENST00000357155.1	-	3	455	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	136	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TCAATGGTGGCGGTGGCCTCC	0.612																																						ENST00000357155.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(406-408)Gcc>Acc		myosin binding protein H-like							57.0	53.0	54.0					1																	109840068		2203	4300	6503	SO:0001583	missense	343263							g.chr1:109840068C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.406G>A	1.37:g.109840068C>T	ENSP00000349678:p.Ala136Thr					MYBPHL_ENST00000477962.1_Intron	p.A136T	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	3	455	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	136			Ig-like C2-type 1.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.406G>A	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337615	0.41398	.	.	ENSG00000221986	ENST00000357155	T	0.68624	-0.34	4.6	1.72	0.24424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57330	0.2046	M	0.86740	2.835	0.44966	D	0.997984	B	0.30104	0.268	B	0.37346	0.247	T	0.58222	-0.7674	9	0.34782	T	0.22	.	8.0692	0.30678	0.0:0.7183:0.0:0.2817	.	136	A2RUH7	MBPHL_HUMAN	T	136	ENSP00000349678:A136T	ENSP00000349678:A136T	A	-	1	0	MYBPHL	109641591	0.996000	0.38824	0.797000	0.32132	0.212000	0.24457	3.512000	0.53407	0.687000	0.31509	-0.145000	0.13849	GCC		0.612	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		9	73	0	0	0	1	0	9	73				
CXXC5	51523	broad.mit.edu	37	5	139060933	139060933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:139060933C>A	ENST00000302517.3	+	2	1539	c.825C>A	c.(823-825)tgC>tgA	p.C275*	CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	275					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCAACTGCGAGCAGTGCA	0.567																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(823-825)tgC>tgA		CXXC finger protein 5							68.0	79.0	75.0					5																	139060933		2018	4167	6185	SO:0001587	stop_gained	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060933C>A	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.825C>A	5.37:g.139060933C>A	ENSP00000302543:p.Cys275*					CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*|CXXC5_ENST00000515038.1_3'UTR	p.C275*	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1539	+			275					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Nonsense_Mutation	SNP	ENST00000302517.3	37	c.825C>A	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	C	42	9.494402	0.99187	.	.	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.05	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6052	8.3856	0.32499	0.0:0.6906:0.0:0.3094	.	.	.	.	X	275	.	ENSP00000302543:C275X	C	+	3	2	CXXC5	139041117	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.654000	0.24918	0.510000	0.28216	0.511000	0.50034	TGC		0.567	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		3	109	1	0	1	1	1	3	109				
RP11-423O2.5	0	broad.mit.edu	37	1	142810433	142810433	+	lincRNA	DEL	C	C	-			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:142810433delC	ENST00000423385.1	-	0	88																											actttgggagcccaaggtggg	0.473																																						ENST00000423385.1																			0																																																			0							g.chr1:142810433delC																													1.37:g.142810433delC														0	88	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.473	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			8	49						8	49	---	---	---	---
BZW1	9689	broad.mit.edu	37	2	201684782	201684782	+	Frame_Shift_Del	DEL	T	T	-	rs553844361		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:201684782delT	ENST00000409600.1	+	10	1499	c.1044delT	c.(1042-1044)tatfs	p.Y348fs	BZW1_ENST00000409226.1_Frame_Shift_Del_p.Y352fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.Y380fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	348	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCAGGAGTATTGCTATGACA	0.338																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(1042-1044)tafs		basic leucine zipper and W2 domains 1							29.0	25.0	26.0					2																	201684782		1809	4053	5862	SO:0001589	frameshift_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201684782delT	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.1044delT	2.37:g.201684782delT	ENSP00000386474:p.Tyr348fs					BZW1_ENST00000409226.1_Frame_Shift_Del_p.Y352fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.Y380fs	p.Y348fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			10	1499	+			348			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Frame_Shift_Del	DEL	ENST00000409600.1	37	c.1044delT	CCDS56156.1																																																																																				0.338	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		2	4						2	4	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16955876	16955876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr10:16955876delC	ENST00000377833.4	-	48	7532	c.7467delG	c.(7465-7467)cggfs	p.R2489fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2489	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAGGGTGATCCGCCTTCCCT	0.517																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7465-7467)cgfs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						148.0	133.0	138.0					10																	16955876		2203	4300	6503	SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16955876delC	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7467delG	10.37:g.16955876delC	ENSP00000367064:p.Arg2489fs						p.R2489fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			48	7532	-			2489			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.7467delG	CCDS7113.1																																																																																				0.517	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		41	246						41	246	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396278	118396279	+	RNA	INS	-	-	T	rs376717445|rs534667616|rs11197776	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr10:118396278_118396279insT	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACAAATTATGGTTTTTTTTTTC	0.426														15	0.00299521	0.0068	0.0	5008	,	,		20911	0.001		0.0	False		,,,				2504	0.0051					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2																																						5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396278_118396279insT	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396288_118396288dupT						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	INS	ENST00000298771.7	37																																																																																						0.426	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		5	5						5	5	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647495	33647495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:33647495delC	ENST00000558425.1	-	2	104	c.105delG	c.(103-105)gggfs	p.G35fs																								GTCTCAGGGACCCCCCAGGCT	0.567																																						ENST00000558425.1																			0											c.(103-105)ggfs						30,3446		15,0,1723	85.0	98.0	94.0			1.6	0.1	16		95	87,7733		43,1,3866	no	intergenic				58,1,5589	A1A1,A1R,RR		1.1125,0.8631,1.0358			33647495	117,11179	1831	4092	5923	SO:0001589	frameshift_variant	0							g.chr16:33647495delC																												ENST00000558425.1:c.105delG	16.37:g.33647495delC	ENSP00000475107:p.Gly35fs						p.G35fs							2	104	-									Frame_Shift_Del	DEL	ENST00000558425.1	37	c.105delG																																																																																					0.567	RP11-812E19.9-201	KNOWN	basic	protein_coding	protein_coding				8	112						8	112	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67337079	67337089	+	Frame_Shift_Del	DEL	CGATGAGGGCC	CGATGAGGGCC	-	rs187374294		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67337079_67337089delCGATGAGGGCC	ENST00000304372.5	-	4	658_668	c.603_613delGGCCCTCATCG	c.(601-615)gtggccctcatcgagfs	p.ALIE202fs	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	202					protein homooligomerization (GO:0051260)			p.A202T(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CACTCGCACTCGATGAGGGCCACCGTCTCAG	0.607																																						ENST00000304372.5																			1	Substitution - Missense(1)	p.A202T(1)	endometrium(1)	endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(601-615)gtagfs		potassium channel tetramerization domain containing 19																																				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67337079_67337089delCGATGAGGGCC	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.603_613delGGCCCTCATCG	16.37:g.67337079_67337089delCGATGAGGGCC	ENSP00000305702:p.Ala202fs					KCTD19_ENST00000562860.1_5'UTR	p.VALIE201fs	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	4	658_668	-		Ovarian(137;0.192)	201					B4DZ49|Q8N804	Frame_Shift_Del	DEL	ENST00000304372.5	37	c.603_613delGGCCCTCATCG	CCDS42179.1																																																																																				0.607	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		8	56						8	56	---	---	---	---
RP5-963E22.4	0	broad.mit.edu	37	20	61798838	61798838	+	lincRNA	DEL	T	T	-			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:61798838delT	ENST00000423020.1	-	0	188																											ctcagccccctcctcagcccc	0.687																																						ENST00000423020.1																			0																																																			0							g.chr20:61798838delT																													20.37:g.61798838delT														0	188	-									RNA	DEL	ENST00000423020.1	37																																																																																						0.687	RP5-963E22.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000276288.1			2	4						2	4	---	---	---	---
