#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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CEP104	9731	broad.mit.edu	37	1	3765275	3765275	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:3765275G>T	ENST00000378230.3	-	3	508	c.184C>A	c.(184-186)Ctt>Att	p.L62I	CEP104_ENST00000378223.3_Missense_Mutation_p.L62I	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	62						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.L62I(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGGTGAGCAAGTAACTGCAGT	0.368																																						uc001aky.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CTT>ATT		glycine-, glutamate-,							110.0	101.0	104.0					1																	3765275		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3765275G>T	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.184C>A	1.37:g.3765275G>T	ENSP00000367476:p.Leu62Ile					KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.L62I	p.L62I	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	3	543	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	62					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.184C>A	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910696	0.52439	.	.	ENSG00000116198	ENST00000378230;ENST00000378223	T;T	0.80909	-1.43;-1.43	5.53	4.59	0.56863	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.90848	0.7125	M	0.88241	2.94	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.957	D	0.92172	0.5744	10	0.59425	D	0.04	.	15.1391	0.72595	0.0:0.142:0.858:0.0	.	62;62	O60308-3;O60308	.;CE104_HUMAN	I	62	ENSP00000367476:L62I;ENSP00000367468:L62I	ENSP00000367468:L62I	L	-	1	0	CEP104	3755135	1.000000	0.71417	0.009000	0.14445	0.053000	0.15095	7.426000	0.80270	1.273000	0.44346	0.655000	0.94253	CTT		PASS	0.368	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		12	134	12	134	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7724860	7724860	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:7724860C>T	ENST00000303635.7	+	9	2460	c.2253C>T	c.(2251-2253)agC>agT	p.S751S	CAMTA1_ENST00000439411.2_Silent_p.S751S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	751					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S751S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCAGCCCAGCCTCGGCAACG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2251-2253)AGC>AGT		calmodulin-binding transcription activator 1							82.0	96.0	91.0					1																	7724860		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724860C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2253C>T	1.37:g.7724860C>T							p.S751S	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2460	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	751					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2253C>T	CCDS30576.1																																																																																				PASS	0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		5	220	5	220	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19467977	19467977	+	Silent	SNP	A	A	G	rs12068417		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:19467977A>G	ENST00000375254.3	-	57	8379	c.8352T>C	c.(8350-8352)aaT>aaC	p.N2784N	UBR4_ENST00000375226.2_Silent_p.N2795N|UBR4_ENST00000375267.2_Silent_p.N2784N|UBR4_ENST00000375217.2_Silent_p.N2812N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N2784N(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGGGTTGCCATTGTTGACAT	0.557																																						uc001bbi.2																			1	Substitution - coding silent(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(8350-8352)AAT>AAC		retinoblastoma-associated factor 600							66.0	70.0	69.0					1																	19467977		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19467977A>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8352T>C	1.37:g.19467977A>G						UBR4_uc001bbk.1_Silent_p.N466N	p.N2784N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	57	8356	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2784					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.8352T>C	CCDS189.1																																																																																				PASS	0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		9	110	9	110	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45671871	45671871	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:45671871C>A	ENST00000359600.5	-	1	357	c.152G>T	c.(151-153)tGc>tTc	p.C51F	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	51						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.C51F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGGACCAGGCAGCTGCTGCC	0.716																																						uc001cnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)TGC>TTC		zinc finger, SWIM domain containing 5							5.0	7.0	6.0					1																	45671871		1739	3799	5538	SO:0001583	missense	57643						zinc ion binding	g.chr1:45671871C>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.152G>T	1.37:g.45671871C>A	ENSP00000352614:p.Cys51Phe						p.C51F	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			1	380	-	Acute lymphoblastic leukemia(166;0.155)		51					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.152G>T	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370941	0.42003	.	.	ENSG00000162415	ENST00000359600	T	0.69685	-0.42	2.84	1.75	0.24633	.	0.384259	0.18772	U	0.131579	T	0.49847	0.1581	L	0.29908	0.895	0.37570	D	0.919405	B	0.02656	0.0	B	0.04013	0.001	T	0.54289	-0.8316	10	0.46703	T	0.11	-3.8358	8.1603	0.31194	0.2389:0.7611:0.0:0.0	.	51	Q9P217	ZSWM5_HUMAN	F	51	ENSP00000352614:C51F	ENSP00000352614:C51F	C	-	2	0	ZSWIM5	45444458	0.896000	0.30565	1.000000	0.80357	0.986000	0.74619	0.502000	0.22594	1.574000	0.49760	0.442000	0.29010	TGC		PASS	0.716	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		2	1	2	1	---	---	---	---
SLC35D1	23169	broad.mit.edu	37	1	67515497	67515497	+	Silent	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:67515497A>G	ENST00000235345.5	-	6	586	c.501T>C	c.(499-501)ttT>ttC	p.F167F	SLC35D1_ENST00000506472.2_Silent_p.F88F	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	167					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)	p.F167F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TAATCATTGCAAATACAGTCA	0.308																																						uc001ddk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(499-501)TTT>TTC		solute carrier family 35 (UDP-glucuronic	Lorazepam(DB00186)						59.0	62.0	61.0					1																	67515497		2203	4298	6501	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67515497A>G	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.501T>C	1.37:g.67515497A>G						SLC35D1_uc010oph.1_Silent_p.F88F	p.F167F	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN			6	885	-			167			Helical; (Potential).		A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.501T>C	CCDS636.1																																																																																				PASS	0.308	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		6	55	6	55	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70482168	70482168	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:70482168C>T	ENST00000035383.5	+	12	1187	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.S391L|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	386						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.S386L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTACCATTCTCATTTACCAAA	0.284																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1156-1158)TCA>TTA		leucine rich repeat containing 7							106.0	110.0	109.0					1																	70482168		2202	4295	6497	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70482168C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1157C>T	1.37:g.70482168C>T	ENSP00000035383:p.Ser386Leu					LRRC7_uc009wbg.2_5'UTR	p.S386L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			12	1187	+			386			LRR 16.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1157C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693278	0.68386	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.17213	2.29;2.29	5.43	5.43	0.79202	.	0.067402	0.64402	D	0.000018	T	0.19805	0.0476	M	0.66506	2.035	0.80722	D	1	B	0.31290	0.318	B	0.43155	0.41	T	0.01378	-1.1370	10	0.87932	D	0	.	14.2217	0.65830	0.0:0.8508:0.1492:0.0	.	386	Q96NW7	LRRC7_HUMAN	L	391;386;209	ENSP00000309245:S391L;ENSP00000035383:S386L	ENSP00000035383:S386L	S	+	2	0	LRRC7	70254756	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.464000	0.53057	2.688000	0.91661	0.650000	0.86243	TCA		PASS	0.284	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		11	136	11	136	---	---	---	---
ZRANB2	9406	broad.mit.edu	37	1	71534977	71534977	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:71534977G>C	ENST00000370920.3	-	8	1053	c.752C>G	c.(751-753)tCt>tGt	p.S251C	MIR186_ENST00000384988.1_RNA|ZRANB2_ENST00000477096.1_5'Flank|ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.S251C	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	251	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S251C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGACCCACGAGATCTCGAACG	0.433																																						uc001dft.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(751-753)TCT>TGT		zinc finger protein 265 isoform 1							95.0	93.0	94.0					1																	71534977		2203	4300	6503	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71534977G>C	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.752C>G	1.37:g.71534977G>C	ENSP00000359958:p.Ser251Cys					ZRANB2_uc001dfs.2_Missense_Mutation_p.S251C|uc010oqr.1_5'Flank|MIR186_hsa-mir-186|MI0000483_5'Flank	p.S251C	NM_203350	NP_976225	O95218	ZRAB2_HUMAN			8	819	-			251			Arg/Ser-rich.|Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.752C>G	CCDS659.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245577	0.59103	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.67698	-0.28;-0.26	5.6	5.6	0.85130	.	0.699470	0.15121	N	0.279368	T	0.69006	0.3063	N	0.24115	0.695	0.53005	D	0.999963	D;D	0.67145	0.992;0.996	P;D	0.76071	0.869;0.987	T	0.73547	-0.3948	10	0.72032	D	0.01	.	19.6181	0.95643	0.0:0.0:1.0:0.0	.	251;251	O95218;O95218-2	ZRAB2_HUMAN;.	C	251	ENSP00000359958:S251C;ENSP00000254821:S251C	ENSP00000254821:S251C	S	-	2	0	ZRANB2	71307565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.639000	0.89480	0.460000	0.39030	TCT		PASS	0.433	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		5	79	5	79	---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76280711	76280711	+	Silent	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:76280711T>C	ENST00000263187.3	+	5	809	c.705T>C	c.(703-705)gtT>gtC	p.V235V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	235					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.V235V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCAGAATGTTAATTTCACTA	0.343								Mismatch excision repair (MMR)																														uc001dhd.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)	5						c.(703-705)GTT>GTC	MMR	mutS homolog 4							61.0	65.0	64.0					1																	76280711		2203	4294	6497	SO:0001819	synonymous_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76280711T>C	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.705T>C	1.37:g.76280711T>C							p.V235V	NM_002440	NP_002431	O15457	MSH4_HUMAN			5	746	+			235					Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	c.705T>C	CCDS670.1																																																																																				PASS	0.343	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		7	78	7	78	---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93677773	93677773	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:93677773A>T	ENST00000343253.7	+	11	1952	c.1450A>T	c.(1450-1452)Agt>Tgt	p.S484C	CCDC18_ENST00000401026.3_Missense_Mutation_p.S484C|CCDC18_ENST00000557479.1_Missense_Mutation_p.S602C|CCDC18_ENST00000338949.4_Missense_Mutation_p.S283C|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	484								p.S602C(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TAGCAAATTAAGTAGTTTAGA	0.318																																						uc001dpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1804-1806)AGT>TGT		sarcoma antigen NY-SAR-41							127.0	125.0	126.0					1																	93677773		1810	4070	5880	SO:0001583	missense	343099							g.chr1:93677773A>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1450A>T	1.37:g.93677773A>T	ENSP00000343377:p.Ser484Cys					CCDC18_uc009wdl.1_Missense_Mutation_p.S163C	p.S602C	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	11	1972	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	484					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1804A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.93|11.93	1.786578|1.786578	0.31593|0.31593	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42;1.42|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	1.203400|.	0.05623|.	N|.	0.580233|.	T|.	0.14874|.	0.0359|.	N|N	0.14661|0.14661	0.345|0.345	0.39405|0.39405	D|D	0.96665|0.96665	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.001;0.002|.	T|.	0.15665|.	-1.0429|.	10|.	0.56958|.	D|.	0.05|.	.|.	2.7715|2.7715	0.05336|0.05336	0.6272:0.1412:0.0783:0.1533|0.6272:0.1412:0.0783:0.1533	.|.	484;602|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	C|Y	484;484;602;283;204|537	ENSP00000343377:S484C;ENSP00000383808:S484C;ENSP00000451099:S602C;ENSP00000344380:S283C;ENSP00000391151:S204C|.	ENSP00000344380:S283C|.	S|X	+|+	1|3	0|2	CCDC18|CCDC18	93450361|93450361	0.702000|0.702000	0.27816|0.27816	0.908000|0.908000	0.35775|0.35775	0.991000|0.991000	0.79684|0.79684	1.151000|1.151000	0.31651|0.31651	2.123000|2.123000	0.65237|0.65237	0.460000|0.460000	0.39030|0.39030	AGT|TAA		PASS	0.318	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		7	315	7	315	---	---	---	---
BOLA1	51027	broad.mit.edu	37	1	149871795	149871795	+	Silent	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:149871795G>T	ENST00000369153.2	+	3	847	c.183G>T	c.(181-183)ccG>ccT	p.P61P	BOLA1_ENST00000369152.5_Silent_p.P61P|BOLA1_ENST00000369150.1_Silent_p.P61P|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	61						extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.P61P(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACGCGGTCCCGCCTGGCAGTG	0.677																																						uc001etf.2																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(1)	1						c.(181-183)CCG>CCT		bolA-like 1							36.0	35.0	35.0					1																	149871795		2203	4299	6502	SO:0001819	synonymous_variant	51027					extracellular region	protein binding	g.chr1:149871795G>T	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.183G>T	1.37:g.149871795G>T							p.P61P	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		2	304	+	Breast(34;0.0124)|all_hematologic(923;0.127)		61					B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	37	c.183G>T	CCDS939.1																																																																																				PASS	0.677	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		5	65	5	65	---	---	---	---
CHRNB2	1141	broad.mit.edu	37	1	154544128	154544128	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:154544128A>G	ENST00000368476.3	+	5	1093	c.829A>G	c.(829-831)Acg>Gcg	p.T277A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	277					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.T277A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GCTGGCGCTCACGGTCTTCCT	0.582																																						uc001ffg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)ACG>GCG		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						263.0	196.0	218.0					1																	154544128		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544128A>G	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.829A>G	1.37:g.154544128A>G	ENSP00000357461:p.Thr277Ala						p.T277A	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1093	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		277			Helical; (Potential).		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.829A>G	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258743	0.80246	.	.	ENSG00000160716	ENST00000368476	D	0.93133	-3.17	4.1	4.1	0.47936	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	M	0.91972	3.26	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.97450	1.0027	10	0.87932	D	0	.	12.9123	0.58187	1.0:0.0:0.0:0.0	.	277	P17787	ACHB2_HUMAN	A	277	ENSP00000357461:T277A	ENSP00000357461:T277A	T	+	1	0	CHRNB2	152810752	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.086000	0.94088	1.701000	0.51217	0.383000	0.25322	ACG		PASS	0.582	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		15	189	15	189	---	---	---	---
GPATCH4	54865	broad.mit.edu	37	1	156565284	156565284	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:156565284A>T	ENST00000438976.2	-	8	879	c.849T>A	c.(847-849)aaT>aaA	p.N283K	GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000368232.4_Missense_Mutation_p.N278K			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	278							poly(A) RNA binding (GO:0044822)	p.N278K(1)		autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCTCTGCTATTCAATTCCC	0.493																																						uc001fpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(847-849)AAT>AAA		G patch domain containing 4 isoform 1							271.0	264.0	267.0					1																	156565284		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565284A>T	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.849T>A	1.37:g.156565284A>T	ENSP00000396441:p.Asn283Lys					APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.N278K	p.N283K	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN			8	888	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		278					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.849T>A	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	A	3.879	-0.026383	0.07589	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314	T;T;T	0.42513	0.97;0.97;0.97	4.23	-3.06	0.05379	.	1.665940	0.03164	N	0.169753	T	0.03053	0.0090	N	0.02225	-0.63	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09443	-1.0674	10	0.05721	T	0.95	-13.987	0.388	0.00406	0.2905:0.1645:0.1532:0.3919	.	283;278	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	K	278;278;283;249	ENSP00000357215:N278K;ENSP00000396441:N283K;ENSP00000412620:N249K	ENSP00000357212:N278K	N	-	3	2	GPATCH4	154831908	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-0.217000	0.09253	-0.432000	0.07297	-0.445000	0.05633	AAT		PASS	0.493	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		148	497	148	497	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158263072	158263072	+	Silent	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:158263072G>T	ENST00000368170.3	+	5	1239	c.960G>T	c.(958-960)gtG>gtT	p.V320V		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	320					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.V320V(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TAGTCCTTGTGTTATGGTTTA	0.393																																						uc001fru.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(958-960)GTG>GTT		CD1C antigen precursor							505.0	470.0	482.0					1																	158263072		2203	4300	6503	SO:0001819	synonymous_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158263072G>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.960G>T	1.37:g.158263072G>T						CD1C_uc001frv.2_Intron	p.V320V	NM_001765	NP_001756	P29017	CD1C_HUMAN			5	1252	+	all_hematologic(112;0.0378)		320			Helical; (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.960G>T	CCDS1175.1																																																																																				PASS	0.393	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		30	515	30	515	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158650398	158650398	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:158650398T>G	ENST00000368147.4	-	5	833	c.653A>C	c.(652-654)aAc>aCc	p.N218T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	218					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.N218T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCATATTGGTTCACTTCAAC	0.453																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(652-654)AAC>ACC		spectrin, alpha, erythrocytic 1							152.0	152.0	152.0					1																	158650398		1934	4131	6065	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650398T>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.653A>C	1.37:g.158650398T>G	ENSP00000357129:p.Asn218Thr						p.N218T	NM_003126	NP_003117	P02549	SPTA1_HUMAN			5	852	-	all_hematologic(112;0.0378)		218			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.653A>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254692	0.80135	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51071	0.72;0.72	5.19	5.19	0.71726	.	0.000000	0.35096	N	0.003456	T	0.59280	0.2182	M	0.75085	2.285	0.54753	D	0.99998	D	0.59357	0.985	D	0.66196	0.942	T	0.64236	-0.6455	10	0.59425	D	0.04	.	14.0276	0.64594	0.0:0.0:0.0:1.0	.	218	P02549	SPTA1_HUMAN	T	218	ENSP00000357130:N218T;ENSP00000357129:N218T	ENSP00000357129:N218T	N	-	2	0	SPTA1	156917022	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	7.232000	0.78116	2.176000	0.68965	0.491000	0.48974	AAC		PASS	0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		49	244	49	244	---	---	---	---
NDUFS2	4720	broad.mit.edu	37	1	161179712	161179712	+	Silent	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:161179712A>T	ENST00000367993.3	+	7	1141	c.693A>T	c.(691-693)ggA>ggT	p.G231G	NDUFS2_ENST00000392179.4_Silent_p.G231G|NDUFS2_ENST00000476409.2_Silent_p.G133G|NDUFS2_ENST00000465923.1_3'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	231					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)	p.G231G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	GGCCAGGAGGAGTGCACCAGG	0.547											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fyv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(691-693)GGA>GGT		NADH dehydrogenase (ubiquinone) Fe-S protein 2	NADH(DB00157)						43.0	41.0	42.0					1																	161179712		2203	4300	6503	SO:0001819	synonymous_variant	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161179712A>T	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.693A>T	1.37:g.161179712A>T			OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	NDUFS2_uc010pki.1_Silent_p.G133G|NDUFS2_uc001fyw.2_Silent_p.G231G|NDUFS2_uc010pkj.1_Silent_p.G180G|NDUFS2_uc001fyx.2_Silent_p.G231G	p.G231G	NM_004550	NP_004541	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	1141	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		231					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Silent	SNP	ENST00000367993.3	37	c.693A>T	CCDS1224.1																																																																																				PASS	0.547	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		3	45	3	45	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197509126	197509126	+	IGR	SNP	C	C	T	rs377664050		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:197509126C>T								CRB1 (61541 upstream) : DENND1B (12258 downstream)														p.G59R(1)|p.G135R(1)									GAGTTTCCTCCCTTTTCATTG	0.338																																						uc010ppe.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1423-1425)GGA>AGA		DENN/MADD domain containing 1B isoform 1		C	ARG/GLY	0,4404		0,0,2202	156.0	146.0	150.0		1483	3.2	0.2	1		150	1,8599	1.2+/-3.3	0,1,4299	no	missense	DENND1B	NM_001195215.1	125	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	495/776	197509126	1,13003	2202	4300	6502	SO:0001628	intergenic_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197509126C>T																													1.37:g.197509126C>T						DENND1B_uc010ppf.1_RNA	p.G475R	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN			19	1761	-			Error:Variant_position_missing_in_Q6P3S1_after_alignment						Missense_Mutation	SNP		37	c.1423G>A		.	.	.	.	.	.	.	.	.	.	C	0.144	-1.099058	0.01843	0.0	1.16E-4	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.27720	1.65	6.06	3.19	0.36642	.	0.549012	0.14910	U	0.291262	T	0.14917	0.0360	N	0.13043	0.29	0.21697	N	0.999585	B	0.13145	0.007	B	0.14578	0.011	T	0.30149	-0.9988	10	0.12766	T	0.61	.	6.3549	0.21397	0.0:0.6295:0.0:0.3705	.	495	Q6P3S1-5	.	R	135;495;475	ENSP00000375839:G135R	ENSP00000375839:G135R	G	-	1	0	DENND1B	195775749	0.568000	0.26635	0.175000	0.22980	0.073000	0.16967	2.352000	0.44080	0.890000	0.36211	0.650000	0.86243	GGA	0	PASS	0.338									4	115	4	115	---	---	---	---
TRAF3IP3	80342	broad.mit.edu	37	1	209933511	209933511	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:209933511C>G	ENST00000367024.1	+	3	643	c.127C>G	c.(127-129)Cgc>Ggc	p.R43G	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R43G|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R43G|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R43G|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R43G			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	43						integral component of membrane (GO:0016021)		p.R43G(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GACCACTTGCCGCCAGGTGGG	0.612																																						uc001hho.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(127-129)CGC>GGC		TRAF3-interacting JNK-activating modulator							36.0	40.0	39.0					1																	209933511		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933511C>G		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.127C>G	1.37:g.209933511C>G	ENSP00000355991:p.Arg43Gly					TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R43G|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R43G|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R43G|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R43G	p.R43G	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	417	+			43			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.127C>G	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310419	0.81358	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.71817	-0.6;-0.33;-0.44;-0.33;-0.44	5.4	5.4	0.78164	.	0.072716	0.53938	D	0.000048	D	0.82379	0.5024	M	0.67953	2.075	0.42926	D	0.9943	D;D;D;P	0.89917	1.0;1.0;1.0;0.867	D;D;D;P	0.87578	0.997;0.997;0.998;0.656	D	0.84327	0.0519	10	0.87932	D	0	-4.8439	14.6713	0.68945	0.0:1.0:0.0:0.0	.	43;43;43;43	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	G	43	ENSP00000383743:R43G;ENSP00000355992:R43G;ENSP00000355993:R43G;ENSP00000355991:R43G;ENSP00000010338:R43G	ENSP00000010338:R43G	R	+	1	0	TRAF3IP3	208000134	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.767000	0.55288	2.527000	0.85204	0.462000	0.41574	CGC		PASS	0.612	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			4	61	4	61	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220152836	220152836	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:220152836C>A	ENST00000366923.3	-	27	4102	c.3833G>T	c.(3832-3834)cGa>cTa	p.R1278L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1278	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.R1278L(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACCAATAGTTCGAGTTGTCAG	0.413																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3832-3834)CGA>CTA		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						121.0	115.0	117.0					1																	220152836		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220152836C>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3833G>T	1.37:g.220152836C>A	ENSP00000355890:p.Arg1278Leu						p.R1278L	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	27	4103	-			1278			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3833G>T	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259169	0.95368	.	.	ENSG00000136628	ENST00000366923	T	0.70749	-0.51	5.93	5.93	0.95920	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.91310	0.7260	H	0.99884	4.89	0.80722	D	1	D	0.59767	0.986	P	0.56612	0.802	D	0.94992	0.8135	10	0.87932	D	0	-5.1221	20.3363	0.98740	0.0:1.0:0.0:0.0	.	1278	P07814	SYEP_HUMAN	L	1278	ENSP00000355890:R1278L	ENSP00000355890:R1278L	R	-	2	0	EPRS	218219459	1.000000	0.71417	0.728000	0.30774	0.984000	0.73092	7.487000	0.81328	2.814000	0.96858	0.563000	0.77884	CGA		PASS	0.413	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		13	193	13	193	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222806450	222806450	+	Silent	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:222806450A>T	ENST00000344922.5	+	6	3361	c.3336A>T	c.(3334-3336)ccA>ccT	p.P1112P	MIA3_ENST00000344441.6_Silent_p.P1112P|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1112					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P1112P(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTCCAGGGCCAGTTACAACAG	0.413																																						uc001hnl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(3334-3336)CCA>CCT		melanoma inhibitory activity family, member 3							208.0	216.0	214.0					1																	222806450		1837	4096	5933	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222806450A>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3336A>T	1.37:g.222806450A>T						MIA3_uc009xea.1_Silent_p.P948P	p.P1112P	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	6	3345	+			1112			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.3336A>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	4.040	0.004941	0.07866	.	.	ENSG00000154305	ENST00000354906	.	.	.	3.89	-5.48	0.02592	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.20196	N	0.99992	.	.	.	.	.	.	T	0.30001	-0.9993	4	.	.	.	.	6.0049	0.19541	0.2756:0.4131:0.3114:0.0	.	.	.	.	C	695	.	.	S	+	1	0	MIA3	220873073	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.021000	0.03615	-1.120000	0.02953	-0.687000	0.03738	AGT		PASS	0.413	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		8	602	8	602	---	---	---	---
LEFTY2	7044	broad.mit.edu	37	1	226125168	226125168	+	Silent	SNP	C	C	A	rs561486852	byFrequency	TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:226125168C>A	ENST00000366820.5	-	4	1422	c.1074G>T	c.(1072-1074)gcG>gcT	p.A358A	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Silent_p.A324A	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	358					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)		p.A358A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TTGGCACGAGCGCCCCATCCG	0.577													C|||	3	0.000599042	0.0	0.0	5008	,	,		17528	0.003		0.0	False		,,,				2504	0.0				Colon(172;116 2643 9098 43333)	uc001hpt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1072-1074)GCG>GCT		endometrial bleeding associated factor							55.0	57.0	56.0					1																	226125168		2203	4300	6503	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125168C>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.1074G>T	1.37:g.226125168C>A						LEFTY2_uc010pvk.1_Silent_p.A324A|LEFTY2_uc009xek.1_3'UTR	p.A358A	NM_003240	NP_003231	O00292	LFTY2_HUMAN			4	1154	-	Breast(184;0.197)		358					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.1074G>T	CCDS1549.1																																																																																				PASS	0.577	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		5	125	5	125	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237870287	237870287	+	Missense_Mutation	SNP	A	A	T	rs372601642		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:237870287A>T	ENST00000366574.2	+	68	9936	c.9619A>T	c.(9619-9621)Aac>Tac	p.N3207Y	RYR2_ENST00000542537.1_Missense_Mutation_p.N3191Y|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.N3205Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3207					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.N3205Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTTGTCCAAACATACCGTC	0.418																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9619-9621)AAC>TAC		cardiac muscle ryanodine receptor							132.0	130.0	130.0					1																	237870287		1901	4135	6036	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870287A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9619A>T	1.37:g.237870287A>T	ENSP00000355533:p.Asn3207Tyr					RYR2_uc010pxz.1_Missense_Mutation_p.N162Y	p.N3207Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9739	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3207					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9619A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	8.846	0.943375	0.18281	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.96685	-4.09;-4.06;-4.08	5.72	4.6	0.57074	.	0.417198	0.22930	N	0.053911	D	0.91005	0.7171	N	0.19112	0.55	0.22710	N	0.998825	B	0.02656	0.0	B	0.04013	0.001	D	0.83620	0.0139	10	0.62326	D	0.03	-19.5513	8.4504	0.32866	0.8546:0.0:0.1454:0.0	.	3207	Q92736	RYR2_HUMAN	Y	3207;3205;3191;162;202	ENSP00000355533:N3207Y;ENSP00000353174:N3205Y;ENSP00000443798:N3191Y	ENSP00000353174:N3205Y	N	+	1	0	RYR2	235936910	0.024000	0.19004	1.000000	0.80357	0.566000	0.35808	1.595000	0.36708	2.186000	0.69663	0.528000	0.53228	AAC		PASS	0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		72	284	72	284	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247614915	247614915	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr1:247614915G>T	ENST00000318749.6	-	1	393	c.370C>A	c.(370-372)Ctg>Atg	p.L124M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L124M(1)|p.L124V(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAGCGGTCCAGGGCCATGGCG	0.607																																						uc010pyx.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(370-372)CTG>ATG		olfactory receptor, family 2, subfamily B,																																				SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614915G>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.370C>A	1.37:g.247614915G>T	ENSP00000325682:p.Leu124Met						p.L124M	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	370	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	124			Helical; Name=3; (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.370C>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709506	0.48517	.	.	ENSG00000177535	ENST00000318749	T	0.01446	4.88	4.96	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	1.029610	0.07741	N	0.946988	T	0.04452	0.0122	L	0.55213	1.73	0.24098	N	0.995886	D	0.56035	0.974	P	0.52267	0.694	T	0.44787	-0.9305	10	0.87932	D	0	.	5.0426	0.14467	0.1838:0.1749:0.6413:0.0	.	124	Q5JQS5	OR2BB_HUMAN	M	124	ENSP00000325682:L124M	ENSP00000325682:L124M	L	-	1	2	OR2B11	245681538	0.000000	0.05858	1.000000	0.80357	0.886000	0.51366	0.658000	0.24979	0.765000	0.33221	0.551000	0.68910	CTG		PASS	0.607	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		18	89	18	89	---	---	---	---
KCNF1	3754	broad.mit.edu	37	2	11053750	11053750	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:11053750C>T	ENST00000295082.1	+	1	1688	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	400					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.L400L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGCCATCGCCCTGCCCATCCA	0.592																																						uc002rax.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1198-1200)CTG>TTG		potassium voltage-gated channel, subfamily F,							149.0	111.0	124.0					2																	11053750		2203	4300	6503	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053750C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1198C>T	2.37:g.11053750C>T							p.L400L	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1688	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		400			Helical; Name=Segment S6; (Potential).		O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.1198C>T	CCDS1676.1																																																																																				PASS	0.592	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		3	60	3	60	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11770204	11770204	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:11770204A>T	ENST00000381486.2	+	26	4880	c.4580A>T	c.(4579-4581)gAg>gTg	p.E1527V	GREB1_ENST00000396123.1_Missense_Mutation_p.E525V|GREB1_ENST00000234142.5_Missense_Mutation_p.E1527V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1527						integral component of membrane (GO:0016021)		p.E1527V(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCAGCTGGAGAGCATGCGA	0.557																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4579-4581)GAG>GTG		growth regulation by estrogen in breast cancer 1							86.0	85.0	85.0					2																	11770204		2095	4226	6321	SO:0001583	missense	9687					integral to membrane		g.chr2:11770204A>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4580A>T	2.37:g.11770204A>T	ENSP00000370896:p.Glu1527Val					GREB1_uc002rbp.1_Missense_Mutation_p.E525V	p.E1527V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	26	4880	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1527					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4580A>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.760703	0.89932	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.58940	0.3;0.3;0.3	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80207	-0.1478	10	0.87932	D	0	-38.0389	15.3696	0.74551	1.0:0.0:0.0:0.0	.	1527	Q4ZG55	GREB1_HUMAN	V	1527;1527;525	ENSP00000370896:E1527V;ENSP00000234142:E1527V;ENSP00000379429:E525V	ENSP00000234142:E1527V	E	+	2	0	GREB1	11687655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.750000	0.91623	2.092000	0.63282	0.496000	0.49642	GAG		PASS	0.557	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		15	95	15	95	---	---	---	---
CAD	790	broad.mit.edu	37	2	27449096	27449096	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:27449096T>C	ENST00000264705.4	+	13	2102	c.1940T>C	c.(1939-1941)cTc>cCc	p.L647P	CAD_ENST00000403525.1_Intron	NM_004341.3	NP_004332.2	O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.L647P(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTATCAGCTCCTGAGGCAG	0.542																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(1939-1941)CTC>CCC		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						114.0	108.0	110.0					2																	27449096		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449096T>C	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000264705.4:c.1940T>C	2.37:g.27449096T>C	ENSP00000264705:p.Leu647Pro					CAD_uc010eyw.2_Intron	p.L647P	NM_004341	NP_004332	P27708	PYR1_HUMAN			13	2102	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		647			CPSase (Carbamoyl-phosphate synthase).|CPSase A.|ATP-grasp 1.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000264705.4	37	c.1940T>C	CCDS1742.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548077	0.65311	.	.	ENSG00000084774	ENST00000264705	D	0.97209	-4.29	5.63	5.63	0.86233	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.144418	0.64402	D	0.000014	D	0.97256	0.9103	M	0.83774	2.66	0.80722	D	1	P	0.42203	0.773	P	0.45377	0.478	D	0.97791	1.0238	10	0.87932	D	0	.	14.7168	0.69275	0.0:0.0:0.0:1.0	.	647	P27708	PYR1_HUMAN	P	647	ENSP00000264705:L647P	ENSP00000264705:L647P	L	+	2	0	CAD	27302600	1.000000	0.71417	0.916000	0.36221	0.964000	0.63967	7.649000	0.83500	2.151000	0.67156	0.454000	0.30748	CTC		PASS	0.542	CAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214186.2			15	70	15	70	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77745843	77745843	+	Silent	SNP	G	G	A	rs34870411		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:77745843G>A	ENST00000409093.1	-	3	1488	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	LRRTM4_ENST00000409088.3_Silent_p.I384I|LRRTM4_ENST00000409884.1_Silent_p.I384I|LRRTM4_ENST00000409911.1_Silent_p.I385I|LRRTM4_ENST00000409282.1_Silent_p.I385I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	384					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.I384I(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAGGTCTAGGGATAATCAGAG	0.488																																						uc002snr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1150-1152)ATC>ATT		leucine rich repeat transmembrane neuronal 4							139.0	135.0	136.0					2																	77745843		1883	4112	5995	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745843G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1152C>T	2.37:g.77745843G>A						LRRTM4_uc002snq.2_Silent_p.I384I|LRRTM4_uc002sns.2_Silent_p.I384I|LRRTM4_uc002snt.2_Silent_p.I385I	p.I384I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1567	-			384			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1152C>T	CCDS46346.1																																																																																				PASS	0.488	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		6	90	6	90	---	---	---	---
CD8B	926	broad.mit.edu	37	2	87085349	87085349	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:87085349C>T	ENST00000390655.6	-	2	292	c.234G>A	c.(232-234)ggG>ggA	p.G78G	CD8B_ENST00000331469.2_Silent_p.G78G|CD8B_ENST00000393759.2_Silent_p.G78G|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Silent_p.G78G|CD8B_ENST00000349455.3_Silent_p.G78G	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	78	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.G78G(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CGTGGATAGTCCCTTTTGCGG	0.552																																						uc002srz.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(232-234)GGG>GGA		CD8b antigen isoform 5 precursor							110.0	99.0	102.0					2																	87085349		2203	4300	6503	SO:0001819	synonymous_variant	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085349C>T		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.234G>A	2.37:g.87085349C>T						RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Silent_p.G78G|CD8B_uc002srx.2_Silent_p.G78G|CD8B_uc002sry.2_Silent_p.G78G|CD8B_uc010fgt.2_Silent_p.G78G|CD8B_uc002ssa.2_Silent_p.G78G|CD8B_uc010yto.1_Silent_p.G78G	p.G78G	NM_004931	NP_004922	P10966	CD8B_HUMAN			2	284	-			78			Ig-like V-type.|Extracellular (Potential).		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	c.234G>A	CCDS1997.1																																																																																				PASS	0.552	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		11	114	11	114	---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102851383	102851383	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:102851383G>C	ENST00000264257.2	+	11	1450	c.1324G>C	c.(1324-1326)Gtt>Ctt	p.V442L	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.V442L|IL1RL2_ENST00000441515.2_Missense_Mutation_p.V324L	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	442	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.V324L(1)|p.V442L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CGATGAAAACGTTAAGCTGTG	0.473																																						uc002tbs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1324-1326)GTT>CTT		interleukin 1 receptor-like 2 precursor							83.0	86.0	85.0					2																	102851383		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102851383G>C	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1324G>C	2.37:g.102851383G>C	ENSP00000264257:p.Val442Leu					IL1RL2_uc002tbt.2_Missense_Mutation_p.V324L	p.V442L	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN			11	1450	+			442			TIR.|Cytoplasmic (Potential).		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1324G>C	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	6.375	0.437318	0.12104	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.08896	3.04;3.04;3.04	5.46	3.1	0.35709	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.741243	0.12914	N	0.428723	T	0.07279	0.0184	L	0.34521	1.04	0.09310	N	1	B;B	0.23650	0.039;0.089	B;B	0.32805	0.107;0.153	T	0.41288	-0.9517	10	0.45353	T	0.12	.	2.3995	0.04398	0.6039:0.1275:0.1458:0.1228	.	324;442	A4FU63;Q9HB29	.;ILRL2_HUMAN	L	442;324;442	ENSP00000264257:V442L;ENSP00000413348:V324L;ENSP00000442184:V442L	ENSP00000264257:V442L	V	+	1	0	IL1RL2	102217815	0.044000	0.20184	0.001000	0.08648	0.000000	0.00434	1.032000	0.30178	0.387000	0.25024	-0.302000	0.09304	GTT		PASS	0.473	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		17	95	17	95	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109086493	109086493	+	Silent	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:109086493T>C	ENST00000309863.6	+	6	1422	c.708T>C	c.(706-708)agT>agC	p.S236S	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	236					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.S236S(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATATTAATAGTTTGCAGGAAG	0.373																																						uc002tec.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(706-708)AGT>AGC		GRIP and coiled-coil domain-containing 2							73.0	84.0	80.0					2																	109086493		2202	4300	6502	SO:0001819	synonymous_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086493T>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.708T>C	2.37:g.109086493T>C						GCC2_uc002ted.2_Silent_p.S135S	p.S236S	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	862	+			236			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	c.708T>C	CCDS33268.1																																																																																				PASS	0.373	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		11	193	11	193	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976314	131976314	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:131976314C>T	ENST00000356920.5	+	1	433	c.339C>T	c.(337-339)ggC>ggT	p.G113G	POTEE_ENST00000358087.5_Silent_p.G113G|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	113					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G113G(2)									GGGGGAGCGGCAAGAGCAAGG	0.602																																						uc002tsn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(337-339)GGC>GGT		protein expressed in prostate, ovary, testis,							115.0	112.0	113.0					2																	131976314		2203	4300	6503	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976314C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.339C>T	2.37:g.131976314C>T						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.G113G	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			1	391	+			113					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.339C>T	CCDS46414.1																																																																																				PASS	0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		9	204	9	204	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159537044	159537044	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:159537044A>C	ENST00000389759.3	+	22	3546	c.3434A>C	c.(3433-3435)gAt>gCt	p.D1145A	AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.D1102A	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1145					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.D1145A(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTTATTTTGATGACCGAGTT	0.373										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(3433-3435)GAT>GCT		plakophilin 4 isoform a							132.0	127.0	128.0					2																	159537044		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159537044A>C	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3434A>C	2.37:g.159537044A>C	ENSP00000374409:p.Asp1145Ala	HNSCC(62;0.18)				PKP4_uc002tzw.2_Missense_Mutation_p.D1102A|PKP4_uc002tzx.2_Missense_Mutation_p.D802A|PKP4_uc002uaa.2_Missense_Mutation_p.D954A|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.D326A|PKP4_uc002uad.2_RNA	p.D1145A	NM_003628	NP_003619	Q99569	PKP4_HUMAN			22	3694	+			1145					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.3434A>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608148	0.66558	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.76578	-1.03;-0.96	5.49	5.49	0.81192	.	0.050372	0.85682	D	0.000000	T	0.69851	0.3157	N	0.24115	0.695	0.80722	D	1	P;P;P	0.52316	0.952;0.925;0.952	B;P;B	0.44561	0.437;0.453;0.437	T	0.74359	-0.3691	10	0.54805	T	0.06	-13.8692	15.8895	0.79286	1.0:0.0:0.0:0.0	.	1100;1102;1145	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	A	1102;1145	ENSP00000374407:D1102A;ENSP00000374409:D1145A	ENSP00000374407:D1102A	D	+	2	0	PKP4	159245290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.207000	0.71202	0.533000	0.62120	GAT		PASS	0.373	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			6	323	6	323	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166909449	166909449	+	Missense_Mutation	SNP	C	C	T	rs569880910		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:166909449C>T	ENST00000303395.4	-	5	606	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V203I|SCN1A_ENST00000409050.1_Missense_Mutation_p.V203I|SCN1A_ENST00000423058.2_Missense_Mutation_p.V203I|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	203					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.V203I(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACTCTGTGACGTACCTGTAA	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18495	0.0		0.0	False		,,,				2504	0.0					uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(607-609)GTC>ATC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						82.0	69.0	73.0					2																	166909449		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166909449C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.607G>A	2.37:g.166909449C>T	ENSP00000303540:p.Val203Ile					SCN1A_uc002udo.3_Missense_Mutation_p.V72I|SCN1A_uc010fpk.2_Missense_Mutation_p.V72I	p.V203I	NM_006920	NP_008851	P35498	SCN1A_HUMAN			5	625	-			203			Helical; Name=S3 of repeat I; (By similarity).|I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.607G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207017	0.79127	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.64402	D	0.000009	D	0.98018	0.9347	N	0.26092	0.79	0.80722	D	1	P;P;D	0.76494	0.685;0.58;0.999	B;B;D	0.79108	0.151;0.333;0.992	D	0.98214	1.0474	10	0.41790	T	0.15	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	203;203;203	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	203	ENSP00000407030:V203I;ENSP00000303540:V203I;ENSP00000364554:V203I;ENSP00000386312:V203I	ENSP00000303540:V203I	V	-	1	0	SCN1A	166617695	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.923000	0.56469	2.885000	0.99019	0.655000	0.94253	GTC		PASS	0.438	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		4	68	4	68	---	---	---	---
RBM45	129831	broad.mit.edu	37	2	178988913	178988913	+	Silent	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:178988913A>G	ENST00000286070.5	+	8	1220	c.1128A>G	c.(1126-1128)ccA>ccG	p.P376P		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	378					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P376P(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TTGTACTTCCATCATGCAAAA	0.358																																						uc002ulv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1126-1128)CCA>CCG		RNA binding motif protein 45							75.0	82.0	79.0					2																	178988913		2203	4300	6503	SO:0001819	synonymous_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178988913A>G	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1128A>G	2.37:g.178988913A>G							p.P376P	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		8	1220	+			378					Q6NYL0|Q8NFC9	Silent	SNP	ENST00000286070.5	37	c.1128A>G	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	A	9.560	1.118186	0.20877	.	.	ENSG00000155636	ENST00000455903	.	.	.	5.73	3.37	0.38596	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52049	-0.8627	4	.	.	.	-12.5689	9.044	0.36336	0.8485:0.0:0.1515:0.0	.	.	.	.	R	37	.	.	H	+	2	0	RBM45	178697159	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	0.687000	0.25407	0.453000	0.26858	0.383000	0.25322	CAT		PASS	0.358	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		4	225	4	225	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179485341	179485341	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:179485341T>C	ENST00000591111.1	-	198	41208	c.40984A>G	c.(40984-40986)Agg>Ggg	p.R13662G	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15303G|TTN_ENST00000342175.6_Missense_Mutation_p.R6430G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6363G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6238G|TTN_ENST00000342992.6_Missense_Mutation_p.R12735G			Q8WZ42	TITIN_HUMAN	titin	13662	Ig-like 93.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12735G(2)|p.R6363G(1)|p.R6238G(1)|p.R6430G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACAATCCTAAGGTCTTCC	0.323																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(38203-38205)AGG>GGG		titin isoform N2-A							70.0	64.0	66.0					2																	179485341		1827	4078	5905	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485341T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40984A>G	2.37:g.179485341T>C	ENSP00000465570:p.Arg13662Gly					TTN_uc010zfh.1_Missense_Mutation_p.R6430G|TTN_uc010zfi.1_Missense_Mutation_p.R6363G|TTN_uc010zfj.1_Missense_Mutation_p.R6238G	p.R12735G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		197	38427	-			13662					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.38203A>G		.	.	.	.	.	.	.	.	.	.	T	14.00	2.405086	0.42613	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82834	0.5123	M	0.80183	2.485	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.85292	0.1068	9	0.87932	D	0	.	16.1968	0.82036	0.0:0.0:0.0:1.0	.	6238;6363;6430;13662	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12735;6238;6430;6363;6238	ENSP00000343764:R12735G;ENSP00000434586:R6238G;ENSP00000340554:R6430G;ENSP00000352154:R6363G	ENSP00000340554:R6430G	R	-	1	2	TTN	179193586	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.226000	0.72277	2.225000	0.72522	0.533000	0.62120	AGG		PASS	0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	141	9	141	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228135511	228135511	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:228135511C>A	ENST00000396578.3	+	25	1763	c.1601C>A	c.(1600-1602)cCa>cAa	p.P534Q	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	534	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.P534Q(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGGGTGACCCAGGACTTAAA	0.493																																						uc002vom.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1600-1602)CCA>CAA		alpha 3 type IV collagen isoform 1 precursor							52.0	54.0	54.0					2																	228135511		1845	4087	5932	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228135511C>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1601C>A	2.37:g.228135511C>A	ENSP00000379823:p.Pro534Gln					COL4A3_uc002von.1_Missense_Mutation_p.P534Q|COL4A3_uc002voo.1_Missense_Mutation_p.P534Q|COL4A3_uc002vop.1_Missense_Mutation_p.P534Q|uc002voq.1_Intron|uc002vor.1_Intron	p.P534Q	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	25	1763	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	534			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1601C>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800848	0.31869	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.96716	-4.1	5.65	2.57	0.30868	.	0.239622	0.29466	N	0.012061	D	0.94571	0.8251	L	0.55481	1.735	0.41628	D	0.989001	P;P;P;P	0.43788	0.782;0.782;0.782;0.817	B;B;B;P	0.45971	0.366;0.366;0.366;0.499	D	0.91433	0.5167	10	0.42905	T	0.14	.	9.4231	0.38563	0.3535:0.5359:0.1107:0.0	.	534;534;534;534	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	Q	534	ENSP00000379823:P534Q	ENSP00000323334:P534Q	P	+	2	0	COL4A3	227843755	0.521000	0.26258	0.730000	0.30809	0.284000	0.27059	1.323000	0.33701	0.320000	0.23234	-0.810000	0.03169	CCA		PASS	0.493	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		6	100	6	100	---	---	---	---
TM4SF20	79853	broad.mit.edu	37	2	228243969	228243969	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:228243969C>T	ENST00000304568.3	-	1	53	c.16G>A	c.(16-18)Gga>Aga	p.G6R		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G6R(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GATGTCCATCCTTCGCAGCAG	0.463																																						uc002vpb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)GGA>AGA		transmembrane 4 L six family member 20							104.0	102.0	103.0					2																	228243969		2203	4300	6503	SO:0001583	missense	79853					integral to membrane|plasma membrane		g.chr2:228243969C>T	AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.16G>A	2.37:g.228243969C>T	ENSP00000303028:p.Gly6Arg						p.G6R	NM_024795	NP_079071	Q53R12	T4S20_HUMAN		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	1	54	-		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	6			Cytoplasmic (Potential).		B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	ENST00000304568.3	37	c.16G>A	CCDS2466.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703628	0.48412	.	.	ENSG00000168955	ENST00000304568;ENST00000449706	T	0.31247	1.5	5.77	4.87	0.63330	.	0.174527	0.39985	N	0.001210	T	0.42471	0.1204	M	0.64170	1.965	0.39152	D	0.962249	D	0.69078	0.997	P	0.59643	0.861	T	0.40175	-0.9577	10	0.15499	T	0.54	-10.9594	9.5002	0.39013	0.1616:0.6823:0.156:0.0	.	6	Q53R12	T4S20_HUMAN	R	6	ENSP00000303028:G6R	ENSP00000303028:G6R	G	-	1	0	TM4SF20	227952213	0.798000	0.28890	0.988000	0.46212	0.864000	0.49448	2.016000	0.40971	1.370000	0.46153	0.591000	0.81541	GGA		PASS	0.463	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		5	181	5	181	---	---	---	---
C2orf54	79919	broad.mit.edu	37	2	241829491	241829491	+	Silent	SNP	G	G	A	rs370016041		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr2:241829491G>A	ENST00000388934.4	-	3	983	c.825C>T	c.(823-825)ctC>ctT	p.L275L	C2orf54_ENST00000307486.8_Silent_p.L126L|C2orf54_ENST00000402775.2_Silent_p.L107L	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	275								p.L275L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TGACCCGGTCGAGGATGGAGA	0.662																																						uc002wae.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)CTC>CTT		hypothetical protein LOC79919 isoform 1		G	,	2,4182		0,2,2090	46.0	56.0	52.0		825,321	-2.2	1.0	2		52	5,8431		0,5,4213	no	coding-synonymous,coding-synonymous	C2orf54	NM_001085437.1,NM_024861.2	,	0,7,6303	AA,AG,GG		0.0593,0.0478,0.0555	,	275/448,107/280	241829491	7,12613	2092	4218	6310	SO:0001819	synonymous_variant	79919							g.chr2:241829491G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.825C>T	2.37:g.241829491G>A						C2orf54_uc002wac.2_Silent_p.L107L|C2orf54_uc002wad.2_Silent_p.L126L	p.L275L	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	3	984	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	275					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.825C>T	CCDS42839.1																																																																																				PASS	0.662	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		4	49	4	49	---	---	---	---
IL5RA	3568	broad.mit.edu	37	3	3139576	3139576	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:3139576C>A	ENST00000446632.2	-	7	1261	c.687G>T	c.(685-687)caG>caT	p.Q229H	IL5RA_ENST00000383846.1_Missense_Mutation_p.Q229H|IL5RA_ENST00000438560.1_Missense_Mutation_p.Q229H|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000418488.2_Missense_Mutation_p.Q229H|IL5RA_ENST00000456302.1_Missense_Mutation_p.Q229H|IL5RA_ENST00000430514.2_Missense_Mutation_p.Q229H|IL5RA_ENST00000311981.8_Missense_Mutation_p.Q229H|IL5RA_ENST00000256452.3_Missense_Mutation_p.Q229H	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	229					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.Q229H(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GGGCAAACAGCTGATCAAAGG	0.498																																					GBM(169;430 2801 24955 28528)	uc011ask.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(685-687)CAG>CAT		interleukin 5 receptor, alpha isoform 1							86.0	83.0	84.0					3																	3139576		2203	4300	6503	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139576C>A	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.687G>T	3.37:g.3139576C>A	ENSP00000412209:p.Gln229His					IL5RA_uc010hbq.2_Missense_Mutation_p.Q229H|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.Q229H|IL5RA_uc011asl.1_Missense_Mutation_p.Q229H|IL5RA_uc011asm.1_Missense_Mutation_p.Q229H|IL5RA_uc010hbt.2_Missense_Mutation_p.Q229H|IL5RA_uc011asn.1_Missense_Mutation_p.Q229H|IL5RA_uc010hbu.2_Missense_Mutation_p.Q229H	p.Q229H	NM_000564	NP_000555	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	8	1331	-			229			Extracellular (Potential).		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.687G>T	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	C	5.710	0.315556	0.10789	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302	D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.79	3.92	0.45320	Interleukin-6 receptor alpha chain, binding (1);	0.524570	0.19072	N	0.123476	T	0.79799	0.4508	M	0.67397	2.05	0.21627	N	0.999617	P;B;P;P;P	0.45126	0.851;0.433;0.494;0.738;0.536	P;B;B;B;B	0.46208	0.507;0.11;0.146;0.356;0.286	T	0.67960	-0.5535	10	0.07175	T	0.84	-10.5667	7.8158	0.29258	0.0:0.7976:0.0:0.2024	.	229;229;229;229;229	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	H	229	ENSP00000412209:Q229H;ENSP00000390753:Q229H;ENSP00000256452:Q229H;ENSP00000388858:Q229H;ENSP00000373358:Q229H;ENSP00000309196:Q229H;ENSP00000400400:Q229H;ENSP00000392059:Q229H	ENSP00000256452:Q229H	Q	-	3	2	IL5RA	3114576	0.792000	0.28813	0.025000	0.17156	0.104000	0.19210	0.472000	0.22116	1.353000	0.45828	0.655000	0.94253	CAG		PASS	0.498	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			6	84	6	84	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39227577	39227577	+	Silent	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:39227577G>A	ENST00000340369.3	-	2	3588	c.3360C>T	c.(3358-3360)gtC>gtT	p.V1120V	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1120					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.V1120V(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTCCCTACTGACCTTTCTGG	0.602																																						uc003cjk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(3358-3360)GTC>GTT		xin actin-binding repeat containing 1							64.0	69.0	67.0					3																	39227577		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39227577G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3360C>T	3.37:g.39227577G>A						XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	p.V1120V	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3581	-			1120					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.3360C>T	CCDS2683.1																																																																																				PASS	0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		11	191	11	191	---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46574382	46574382	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:46574382T>A	ENST00000395905.3	-	5	900	c.508A>T	c.(508-510)Aaa>Taa	p.K170*	LRRC2_ENST00000296144.3_Nonsense_Mutation_p.K170*	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	170								p.K170*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TTGAGTTCTTTCAGGTTCTTC	0.358																																						uc010hji.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(508-510)AAA>TAA		leucine rich repeat containing 2							92.0	91.0	91.0					3																	46574382		2203	4300	6503	SO:0001587	stop_gained	79442							g.chr3:46574382T>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.508A>T	3.37:g.46574382T>A	ENSP00000379241:p.Lys170*					LRRC2_uc003cpu.3_Nonsense_Mutation_p.K170*	p.K170*	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	5	872	-		Ovarian(412;0.0563)	170			LRR 3.		B2RDQ7|Q96LT5	Nonsense_Mutation	SNP	ENST00000395905.3	37	c.508A>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	T	37	6.489521	0.97607	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	.	.	.	5.41	5.41	0.78517	.	0.213853	0.40385	N	0.001113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7053	0.62633	0.0:0.0:0.0:1.0	.	.	.	.	X	170	.	ENSP00000296144:K170X	K	-	1	0	LRRC2	46549386	0.999000	0.42202	0.924000	0.36721	0.919000	0.55068	4.345000	0.59360	2.186000	0.69663	0.460000	0.39030	AAA		PASS	0.358	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			16	233	16	233	---	---	---	---
TLR9	54106	broad.mit.edu	37	3	52257452	52257452	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:52257452T>A	ENST00000360658.2	-	2	1513	c.880A>T	c.(880-882)Agt>Tgt	p.S294C	TLR9_ENST00000494383.1_Missense_Mutation_p.Q447L|TLR9_ENST00000597542.1_Missense_Mutation_p.S318C	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	294					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.S294C(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GAGAGAGAACTGTCCTTCAAC	0.562																																						uc003dda.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)	4						c.(880-882)AGT>TGT		toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)						72.0	67.0	69.0					3																	52257452		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257452T>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.880A>T	3.37:g.52257452T>A	ENSP00000353874:p.Ser294Cys					TLR9_uc003ddb.2_Missense_Mutation_p.S391C	p.S294C	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1514	-			294			LRR 9.|Extracellular (Potential).		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.880A>T	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.92|19.92	3.916317|3.916317	0.73098|0.73098	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.58506	.|0.33	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.150478	.|0.31167	.|N	.|0.008133	T|T	0.54175|0.54175	0.1842|0.1842	N|N	0.04275|0.04275	-0.24|-0.24	0.35569|0.35569	D|D	0.805351|0.805351	.|D;D	.|0.76494	.|0.997;0.999	.|P;D	.|0.68192	.|0.819;0.956	T|T	0.70687|0.70687	-0.4803|-0.4803	5|10	.|0.87932	.|D	.|0	.|.	13.0742|13.0742	0.59077|0.59077	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|391;294	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	L|C	447|294	.|ENSP00000353874:S294C	.|ENSP00000353874:S294C	Q|S	-|-	2|1	0|0	RP11-330H6.5|TLR9	52232492|52232492	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	6.088000|6.088000	0.71371|0.71371	1.969000|1.969000	0.57287|0.57287	0.533000|0.533000	0.62120|0.62120	CAG|AGT		PASS	0.562	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			6	64	6	64	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62423878	62423878	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:62423878C>T	ENST00000383710.4	-	28	4027	c.3678G>A	c.(3676-3678)ggG>ggA	p.G1226G	CADPS_ENST00000357948.3_Silent_p.G1147G|CADPS_ENST00000283269.9_Silent_p.G1187G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1226	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.G1187G(1)|p.G1226G(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCACGTCCATCCCGGGTTTCT	0.463																																						uc003dll.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(3676-3678)GGG>GGA		Ca2+-dependent secretion activator isoform 1							70.0	66.0	67.0					3																	62423878		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62423878C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3678G>A	3.37:g.62423878C>T						CADPS_uc003dlj.1_Silent_p.G181G|CADPS_uc003dlk.1_Silent_p.G674G|CADPS_uc003dlm.2_Silent_p.G1187G|CADPS_uc003dln.2_Silent_p.G1147G	p.G1226G	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	28	4038	-		Lung SC(41;0.0452)	1226			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.3678G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.273|7.273	0.607466|0.607466	0.14002|0.14002	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000473635	.|T	.|0.32272	.|1.46	5.65|5.65	-1.98|-1.98	0.07480|0.07480	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35941|0.35941	0.0949|0.0949	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.19063|0.19063	-1.0317|-1.0317	4|7	.|0.87932	.|D	.|0	.|.	6.867|6.867	0.24098|0.24098	0.0:0.4387:0.2035:0.3579|0.0:0.4387:0.2035:0.3579	.|.	.|.	.|.	.|.	N|E	127|218	.|ENSP00000418889:G218E	.|ENSP00000418889:G218E	D|G	-|-	1|2	0|0	CADPS|CADPS	62398918|62398918	0.267000|0.267000	0.24122|0.24122	0.981000|0.981000	0.43875|0.43875	0.996000|0.996000	0.88848|0.88848	-0.276000|-0.276000	0.08514|0.08514	-0.434000|-0.434000	0.07275|0.07275	0.644000|0.644000	0.83932|0.83932	GAT|GGA		PASS	0.463	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		11	62	11	62	---	---	---	---
ACPP	55	broad.mit.edu	37	3	132071602	132071602	+	Silent	SNP	T	T	C	rs116804987	byFrequency	TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:132071602T>C	ENST00000336375.5	+	9	993	c.903T>C	c.(901-903)gaT>gaC	p.D301D	ACPP_ENST00000475741.1_Silent_p.D268D|ACPP_ENST00000351273.7_Silent_p.D301D	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	301					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.D301D(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGGCGCTAGATGTTTACAACG	0.423																																						uc010htp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(901-903)GAT>GAC		acid phosphatase, prostate short isoform							164.0	149.0	154.0					3																	132071602		2203	4300	6503	SO:0001819	synonymous_variant	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132071602T>C		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.903T>C	3.37:g.132071602T>C						ACPP_uc003eon.3_Silent_p.D268D|ACPP_uc003eop.3_Silent_p.D301D	p.D301D	NM_001099	NP_001090	P15309	PPAP_HUMAN			9	993	+			301					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Silent	SNP	ENST00000336375.5	37	c.903T>C	CCDS3073.1																																																																																				PASS	0.423	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		30	200	30	200	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147113823	147113823	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:147113823C>A	ENST00000383075.3	-	3	1016	c.504G>T	c.(502-504)caG>caT	p.Q168H	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.Q168H|ZIC4_ENST00000473123.1_Missense_Mutation_p.Q168H|ZIC4_ENST00000525172.2_Missense_Mutation_p.Q218H|ZIC4_ENST00000425731.3_Missense_Mutation_p.Q206H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	168						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q168H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGTGGTTGGCCTGTTCCGGGC	0.607																																						uc003ewd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(502-504)CAG>CAT		zinc finger protein of the cerebellum 4							105.0	116.0	112.0					3																	147113823		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113823C>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.504G>T	3.37:g.147113823C>A	ENSP00000372553:p.Gln168His					ZIC4_uc003ewc.1_Missense_Mutation_p.Q98H|ZIC4_uc011bno.1_Missense_Mutation_p.Q218H	p.Q168H	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	777	-			168					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.504G>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793174	0.70452	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.2	4.33	0.51752	.	0.000000	0.43919	D	0.000513	T	0.44265	0.1285	N	0.25825	0.765	0.80722	D	1	B;D	0.71674	0.218;0.998	B;D	0.66602	0.065;0.945	T	0.38329	-0.9666	10	0.49607	T	0.09	.	13.5218	0.61572	0.0:0.9246:0.0:0.0754	.	218;168	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	H	168;206;218;168;168;168	ENSP00000372553:Q168H;ENSP00000397695:Q206H;ENSP00000435509:Q218H;ENSP00000417855:Q168H;ENSP00000420775:Q168H;ENSP00000420627:Q168H	ENSP00000372553:Q168H	Q	-	3	2	ZIC4	148596513	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.646000	0.37249	1.191000	0.43056	0.511000	0.50034	CAG		PASS	0.607	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			30	226	30	226	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151161030	151161030	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:151161030A>T	ENST00000282466.3	-	5	5704	c.5705T>A	c.(5704-5706)tTg>tAg	p.L1902*	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1902	Ig-like C2-type 5.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.L1902*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTATATACAAAGTCCCATT	0.433																																						uc011bod.1																			1	Substitution - Nonsense(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(5704-5706)TTG>TAG		immunoglobulin superfamily, member 10 precursor							69.0	75.0	73.0					3																	151161030		2203	4300	6503	SO:0001587	stop_gained	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161030A>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5705T>A	3.37:g.151161030A>T	ENSP00000282466:p.Leu1902*					IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	p.L1902*	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5705	-			1902			Ig-like C2-type 5.		Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	ENST00000282466.3	37	c.5705T>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	45	11.433061	0.99560	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	.	.	.	5.26	5.26	0.73747	.	0.000000	0.39210	N	0.001421	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1583	0.72761	1.0:0.0:0.0:0.0	.	.	.	.	X	1902;529	.	.	L	-	2	0	IGSF10	152643720	1.000000	0.71417	0.951000	0.38953	0.221000	0.24807	7.400000	0.79949	1.993000	0.58246	0.482000	0.46254	TTG		PASS	0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		8	209	8	209	---	---	---	---
MME	4311	broad.mit.edu	37	3	154862192	154862192	+	Silent	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:154862192T>C	ENST00000460393.1	+	14	1482	c.1362T>C	c.(1360-1362)acT>acC	p.T454T	MME_ENST00000360490.2_Silent_p.T454T|MME_ENST00000462745.1_Silent_p.T454T|MME_ENST00000492661.1_Silent_p.T454T|MME_ENST00000493237.1_Silent_p.T454T	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	454					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.T454T(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TTATTCAGACTTTAGATGACC	0.368																																						uc010hvr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1360-1362)ACT>ACC		membrane metallo-endopeptidase	Candoxatril(DB00616)						95.0	99.0	98.0					3																	154862192		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154862192T>C		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1362T>C	3.37:g.154862192T>C						MME_uc003fab.1_Silent_p.T454T|MME_uc003fac.1_Silent_p.T454T|MME_uc003fad.1_Silent_p.T454T|MME_uc003fae.1_Silent_p.T454T	p.T454T	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		14	1573	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	454			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.1362T>C	CCDS3172.1																																																																																				PASS	0.368	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		5	159	5	159	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167023649	167023649	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:167023649C>G	ENST00000392766.2	-	17	1847	c.1507G>C	c.(1507-1509)Gaa>Caa	p.E503Q	ZBBX_ENST00000307529.5_Missense_Mutation_p.E503Q|ZBBX_ENST00000392767.2_Missense_Mutation_p.E503Q|ZBBX_ENST00000392764.1_Missense_Mutation_p.E474Q|ZBBX_ENST00000455345.2_Missense_Mutation_p.E503Q	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	503						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E503Q(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAATTTCTTTCAAAGGAGGTG	0.343																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1507-1509)GAA>CAA		zinc finger, B-box domain containing							51.0	45.0	47.0					3																	167023649		1788	4071	5859	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167023649C>G	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1507G>C	3.37:g.167023649C>G	ENSP00000376519:p.Glu503Gln					ZBBX_uc011bpc.1_Missense_Mutation_p.E503Q|ZBBX_uc003feq.2_Missense_Mutation_p.E474Q	p.E503Q	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			17	1830	-			503					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1507G>C	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466220	0.26335	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.16324	2.53;2.53;2.51;2.51;2.35	5.54	1.75	0.24633	.	0.340313	0.30869	N	0.008708	T	0.17577	0.0422	L	0.50333	1.59	0.09310	N	1	P;P	0.39576	0.587;0.679	B;B	0.41894	0.369;0.186	T	0.07616	-1.0763	10	0.66056	D	0.02	-0.979	8.768	0.34715	0.0:0.7232:0.0:0.2768	.	503;503	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Q	503;503;503;503;474	ENSP00000376519:E503Q;ENSP00000376520:E503Q;ENSP00000390232:E503Q;ENSP00000305065:E503Q;ENSP00000376517:E474Q	ENSP00000305065:E503Q	E	-	1	0	ZBBX	168506343	0.085000	0.21516	0.010000	0.14722	0.010000	0.07245	0.902000	0.28459	0.104000	0.17725	-0.143000	0.13931	GAA		PASS	0.343	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		9	84	9	84	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180324305	180324305	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:180324305A>T	ENST00000296015.4	+	9	1218	c.1086A>T	c.(1084-1086)gaA>gaT	p.E362D	TTC14_ENST00000382584.4_Missense_Mutation_p.E362D|TTC14_ENST00000412756.2_Missense_Mutation_p.E362D	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	362							RNA binding (GO:0003723)	p.E362D(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGCAATAGAAGATTTTGAGC	0.383																																						uc003fkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1084-1086)GAA>GAT		tetratricopeptide repeat domain 14 isoform a							117.0	123.0	121.0					3																	180324305		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180324305A>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1086A>T	3.37:g.180324305A>T	ENSP00000296015:p.Glu362Asp					TTC14_uc003fkl.2_Missense_Mutation_p.E362D|TTC14_uc003fkm.2_Missense_Mutation_p.E362D	p.E362D	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		9	1218	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		362			TPR 3.		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1086A>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048301	0.36181	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T;T	0.62105	0.05;0.05;0.05	5.93	4.75	0.60458	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.482695	0.24828	N	0.035263	T	0.52158	0.1717	L	0.53671	1.685	0.80722	D	1	B;B;B	0.22414	0.069;0.002;0.016	B;B;B	0.23275	0.045;0.006;0.011	T	0.50145	-0.8862	10	0.39692	T	0.17	-20.8298	4.3309	0.11062	0.5998:0.0:0.1466:0.2536	.	362;362;362	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	D	362	ENSP00000296015:E362D;ENSP00000413743:E362D;ENSP00000372027:E362D	ENSP00000296015:E362D	E	+	3	2	TTC14	181806999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.447000	0.35101	1.025000	0.39708	0.533000	0.62120	GAA		PASS	0.383	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		17	292	17	292	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180372682	180372682	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:180372682G>C	ENST00000442201.2	-	7	917	c.798C>G	c.(796-798)atC>atG	p.I266M	CCDC39_ENST00000273654.4_Missense_Mutation_p.I350M	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	266					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.I350M(1)|p.I266M(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCAAAAACTTGATCTTTTCTT	0.308																																						uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(796-798)ATC>ATG		coiled-coil domain containing 39							146.0	127.0	133.0					3																	180372682		1797	4073	5870	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180372682G>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.798C>G	3.37:g.180372682G>C	ENSP00000405708:p.Ile266Met					CCDC39_uc003fkn.2_RNA	p.I266M	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	913	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		266			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.798C>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660796	0.29515	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.77877	-1.13;1.94	5.5	2.65	0.31530	.	0.280459	0.38720	N	0.001582	T	0.73450	0.3588	M	0.63428	1.95	0.26349	N	0.977236	P	0.50710	0.938	P	0.48368	0.575	T	0.65861	-0.6065	10	0.48119	T	0.1	-7.0608	2.4594	0.04538	0.2144:0.1333:0.5152:0.137	.	266	Q9UFE4	CCD39_HUMAN	M	350;266	ENSP00000273654:I350M;ENSP00000405708:I266M	ENSP00000273654:I350M	I	-	3	3	CCDC39	181855376	0.998000	0.40836	1.000000	0.80357	0.295000	0.27426	0.439000	0.21575	0.341000	0.23771	-0.253000	0.11424	ATC		PASS	0.308	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		7	40	7	40	---	---	---	---
LAMP3	27074	broad.mit.edu	37	3	182841950	182841950	+	Silent	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:182841950G>T	ENST00000265598.3	-	6	1425	c.1170C>A	c.(1168-1170)atC>atA	p.I390I	LAMP3_ENST00000466939.1_Silent_p.I366I	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	390					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.I390I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GACCAACCACGATGGCCCCAA	0.463																																						uc003flh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1168-1170)ATC>ATA		lysosomal-associated membrane protein 3							138.0	125.0	130.0					3																	182841950		2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182841950G>T	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1170C>A	3.37:g.182841950G>T							p.I390I	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		6	1394	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		390			Helical; (Potential).		D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.1170C>A	CCDS3242.1																																																																																				PASS	0.463	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			32	467	32	467	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183778105	183778105	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:183778105T>A	ENST00000318351.1	+	9	1343	c.1309T>A	c.(1309-1311)Tcc>Acc	p.S437T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	437					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.S437T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CATGGCCTCCTCCATCCTTAC	0.572																																						uc003fmk.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1309-1311)TCC>ACC		5-hydroxytryptamine receptor 3 subunit C							239.0	201.0	214.0					3																	183778105		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183778105T>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1309T>A	3.37:g.183778105T>A	ENSP00000322617:p.Ser437Thr						p.S437T	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1343	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		437			Helical; Name=4; (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.1309T>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444622	0.63178	.	.	ENSG00000178084	ENST00000318351	D	0.81659	-1.52	4.35	4.35	0.52113	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.239188	0.34906	N	0.003588	D	0.84777	0.5547	M	0.73217	2.22	0.19945	N	0.99994	P	0.51791	0.948	P	0.57101	0.813	T	0.76116	-0.3077	10	0.30078	T	0.28	-9.0503	11.6214	0.51119	0.0:0.0:0.0:1.0	.	437	Q8WXA8	5HT3C_HUMAN	T	437	ENSP00000322617:S437T	ENSP00000322617:S437T	S	+	1	0	HTR3C	185260799	0.850000	0.29656	0.743000	0.31040	0.957000	0.61999	2.539000	0.45718	1.841000	0.53522	0.529000	0.55759	TCC		PASS	0.572	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		54	528	54	528	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183822650	183822650	+	Silent	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:183822650C>A	ENST00000415389.2	+	5	931	c.465C>A	c.(463-465)ccC>ccA	p.P155P	HTR3E_ENST00000335304.2_Silent_p.P170P|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Silent_p.P140P|HTR3E_ENST00000436361.2_Silent_p.P155P|HTR3E_ENST00000440596.2_Silent_p.P181P	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	155					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.P170P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	ATAAGAAACCCATGAAGGTGG	0.478																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(463-465)CCC>CCA		5-hydroxytryptamine receptor 3 subunit E							153.0	129.0	137.0					3																	183822650		2203	4300	6503	SO:0001819	synonymous_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183822650C>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.465C>A	3.37:g.183822650C>A						HTR3E_uc003fml.3_Silent_p.P140P|HTR3E_uc003fmm.2_Silent_p.P170P|HTR3E_uc010hxr.2_Silent_p.P181P|HTR3E_uc003fmn.2_Silent_p.P155P	p.P155P	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	931	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		155			Extracellular (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	ENST00000415389.2	37	c.465C>A	CCDS58868.1																																																																																				PASS	0.478	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		29	342	29	342	---	---	---	---
EIF2B5	8893	broad.mit.edu	37	3	183859720	183859720	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:183859720C>T	ENST00000273783.3	+	8	1286	c.1164C>T	c.(1162-1164)aaC>aaT	p.N388N	EIF2B5_ENST00000444495.1_Silent_p.N388N	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	388					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.N388N(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGGTGATAACGTGGTGCTGG	0.567																																						uc003fmp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1162-1164)AAC>AAT		eukaryotic translation initiation factor 2B,							132.0	117.0	122.0					3																	183859720		2203	4300	6503	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183859720C>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1164C>T	3.37:g.183859720C>T						EIF2B5_uc003fmq.2_Silent_p.N109N|EIF2B5_uc003fmr.2_5'Flank	p.N388N	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1528	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		388					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.1164C>T	CCDS3252.1																																																																																				PASS	0.567	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			10	201	10	201	---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196650360	196650360	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr3:196650360C>T	ENST00000323460.5	+	7	2209	c.1960C>T	c.(1960-1962)Ctc>Ttc	p.L654F	SENP5_ENST00000419026.1_Missense_Mutation_p.L144F|SENP5_ENST00000445299.2_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	654	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L654F(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TACTGTGACACTCTCTAATCG	0.323																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)	3						c.(1960-1962)CTC>TTC		SUMO1/sentrin specific peptidase 5							168.0	159.0	162.0					3																	196650360		2202	4300	6502	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196650360C>T	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1960C>T	3.37:g.196650360C>T	ENSP00000327197:p.Leu654Phe					SENP5_uc011bty.1_Intron	p.L654F	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	7	2209	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		654			Protease.		B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.1960C>T	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154703	0.38021	.	.	ENSG00000119231	ENST00000323460;ENST00000419026	T;T	0.37411	1.2;1.2	4.66	4.66	0.58398	.	0.248834	0.41194	D	0.000936	T	0.36799	0.0980	N	0.13168	0.305	0.43508	D	0.995767	D	0.69078	0.997	D	0.65874	0.939	T	0.09596	-1.0667	10	0.28530	T	0.3	-5.8849	10.6538	0.45663	0.1916:0.8084:0.0:0.0	.	654	Q96HI0	SENP5_HUMAN	F	654;144	ENSP00000327197:L654F;ENSP00000396927:L144F	ENSP00000327197:L654F	L	+	1	0	SENP5	198134757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.134000	0.42102	2.305000	0.77605	0.555000	0.69702	CTC		PASS	0.323	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		56	198	56	198	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3189537	3189537	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:3189537G>A	ENST00000355072.5	+	39	5294	c.5149G>A	c.(5149-5151)Ggg>Agg	p.G1717R		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1717					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.G1717R(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTTAAGAGATGGGGACAGTAC	0.378																																						uc011bvq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(5155-5157)GGG>AGG		huntingtin							120.0	112.0	114.0					4																	3189537		1842	4102	5944	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3189537G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5149G>A	4.37:g.3189537G>A	ENSP00000347184:p.Gly1717Arg						p.G1719R	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	40	5300	+		all_epithelial(65;0.18)	1717					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.5155G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	8.172	0.791895	0.16258	.	.	ENSG00000197386	ENST00000355072	T	0.05199	3.48	5.66	5.66	0.87406	.	0.323500	0.33691	N	0.004658	T	0.07818	0.0196	L	0.41236	1.265	0.48830	D	0.999712	P	0.43431	0.807	B	0.39738	0.308	T	0.43212	-0.9405	10	0.12766	T	0.61	.	19.7324	0.96188	0.0:0.0:1.0:0.0	.	1717	P42858	HD_HUMAN	R	1717	ENSP00000347184:G1717R	ENSP00000347184:G1717R	G	+	1	0	HTT	3159335	1.000000	0.71417	0.310000	0.25168	0.014000	0.08584	6.778000	0.75043	2.663000	0.90544	0.655000	0.94253	GGG		PASS	0.378	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		7	216	7	216	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54292082	54292082	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:54292082A>G	ENST00000337488.6	+	12	1161	c.967A>G	c.(967-969)Atc>Gtc	p.I323V	FIP1L1_ENST00000358575.5_Missense_Mutation_p.I308V|FIP1L1_ENST00000306932.6_Missense_Mutation_p.I249V|FIP1L1_ENST00000507166.1_Missense_Mutation_p.I323V|FIP1L1_ENST00000507922.1_Missense_Mutation_p.I308V	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	323	Necessary for stimulating PAPOLA activity.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I323V(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GACTATAACTATCAGCCGAGT	0.333			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003haa.2				Dom	yes		4	4q12	81608	Mis|O|T	FIP1 like 1 (S. cerevisiae)			L	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(967-969)ATC>GTC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						80.0	79.0	80.0					4																	54292082		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis			cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:54292082A>G	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.967A>G	4.37:g.54292082A>G	ENSP00000336752:p.Ile323Val	TSP Lung(21;0.16)				FIP1L1_uc003gzx.3_Missense_Mutation_p.I308V|FIP1L1_uc011bzt.1_Missense_Mutation_p.I287V|FIP1L1_uc003gzy.2_Missense_Mutation_p.I323V|FIP1L1_uc011bzu.1_Missense_Mutation_p.I308V|FIP1L1_uc003gzz.2_Missense_Mutation_p.I249V|FIP1L1_uc003hab.2_Missense_Mutation_p.I288V|FIP1L1_uc003hac.2_Missense_Mutation_p.I68V|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'Flank	p.I323V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		12	1153	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		Error:Variant_position_missing_in_P16234_after_alignment					B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.967A>G	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012127	0.75046	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.66489	0.2794	L	0.55990	1.75	0.53688	D	0.99997	D;D;P;P;D;D	0.71674	0.966;0.958;0.943;0.65;0.983;0.998	D;D;D;P;D;D	0.81914	0.976;0.966;0.946;0.743;0.977;0.995	T	0.62296	-0.6884	10	0.22706	T	0.39	-12.9758	15.5768	0.76397	1.0:0.0:0.0:0.0	.	308;91;308;249;323;308	G3XAD6;B4DTW7;B4DIR3;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;.;.;FIP1_HUMAN;.	V	323;308;308;249;323	ENSP00000336752:I323V;ENSP00000351383:I308V;ENSP00000425456:I308V;ENSP00000302993:I249V;ENSP00000423325:I323V	ENSP00000302993:I249V	I	+	1	0	FIP1L1	53986839	1.000000	0.71417	0.977000	0.42913	0.888000	0.51559	6.414000	0.73318	2.069000	0.61940	0.377000	0.23210	ATC		PASS	0.333	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		8	165	8	165	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55953823	55953823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:55953823C>A	ENST00000263923.4	-	27	3908	c.3613G>T	c.(3613-3615)Gag>Tag	p.E1205*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1205					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E1205*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATACTTCCTCCTCCTCCATA	0.488			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Nonsense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3613-3615)GAG>TAG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						148.0	131.0	137.0					4																	55953823		2203	4300	6503	SO:0001587	stop_gained	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55953823C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3613G>T	4.37:g.55953823C>A	ENSP00000263923:p.Glu1205*	TSP Lung(20;0.16)				KDR_uc003hat.1_Nonsense_Mutation_p.E1205*	p.E1205*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		27	3915	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1205			Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.3613G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	45	11.675625	0.99590	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.61	5.61	0.85477	.	0.166779	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.6231	0.95667	0.0:1.0:0.0:0.0	.	.	.	.	X	1205	.	ENSP00000263923:E1205X	E	-	1	0	KDR	55648580	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.992000	0.56980	2.659000	0.90383	0.561000	0.74099	GAG		PASS	0.488	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			6	220	6	220	---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95376450	95376450	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:95376450A>G	ENST00000317968.4	+	2	147	c.11A>G	c.(10-12)tAc>tGc	p.Y4C	PDLIM5_ENST00000512274.1_Missense_Mutation_p.Y4C|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.Y4C|PDLIM5_ENST00000504489.1_Missense_Mutation_p.Y4C|PDLIM5_ENST00000380180.3_Missense_Mutation_p.Y4C|PDLIM5_ENST00000359265.4_Missense_Mutation_p.Y4C|PDLIM5_ENST00000538141.1_Missense_Mutation_p.Y4C|PDLIM5_ENST00000437932.1_Missense_Mutation_p.Y4C|PDLIM5_ENST00000508216.1_Missense_Mutation_p.Y4C|PDLIM5_ENST00000450793.1_Missense_Mutation_p.Y4C|PDLIM5_ENST00000514743.1_Missense_Mutation_p.Y4C	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	4	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.Y4C(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ATGAGCAACTACAGTGTGTCA	0.423																																						uc003hti.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(10-12)TAC>TGC		PDZ and LIM domain 5 isoform a							65.0	63.0	63.0					4																	95376450		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95376450A>G	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.11A>G	4.37:g.95376450A>G	ENSP00000321746:p.Tyr4Cys					PDLIM5_uc003htf.2_Missense_Mutation_p.Y4C|PDLIM5_uc003htg.2_Missense_Mutation_p.Y4C|PDLIM5_uc011cdx.1_Missense_Mutation_p.Y4C|PDLIM5_uc003hth.2_Missense_Mutation_p.Y4C|PDLIM5_uc003htj.2_5'UTR|PDLIM5_uc003htk.2_Missense_Mutation_p.Y4C|PDLIM5_uc011cdy.1_5'UTR	p.Y4C	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	2	162	+		Hepatocellular(203;0.114)	4			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.11A>G	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.666246	0.88251	.	.	ENSG00000163110	ENST00000359265;ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000512274;ENST00000503974;ENST00000504489;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T;T	0.58358	0.78;0.34;1.58;1.24;1.57;1.04;0.34;0.38;1.58;0.35	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.74465	0.3720	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.997;0.987;0.999;0.996;0.992	T	0.79017	-0.1975	10	0.87932	D	0	.	14.5885	0.68344	1.0:0.0:0.0:0.0	.	4;4;4;4;4;4	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	C	4	ENSP00000352210:Y4C;ENSP00000398469:Y4C;ENSP00000369527:Y4C;ENSP00000322021:Y4C;ENSP00000401579:Y4C;ENSP00000439795:Y4C;ENSP00000321746:Y4C;ENSP00000424297:Y4C;ENSP00000426804:Y4C;ENSP00000424360:Y4C	ENSP00000321746:Y4C	Y	+	2	0	PDLIM5	95595473	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.829000	0.92055	2.083000	0.62718	0.482000	0.46254	TAC		PASS	0.423	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			3	53	3	53	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114277103	114277103	+	Silent	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:114277103A>G	ENST00000357077.4	+	38	7382	c.7329A>G	c.(7327-7329)ctA>ctG	p.L2443L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.L2410L|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2443					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L2443L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCCTGTGCTAGAAGATAACT	0.517																																						uc003ibe.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(7327-7329)CTA>CTG		ankyrin 2 isoform 1							68.0	69.0	69.0					4																	114277103		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114277103A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7329A>G	4.37:g.114277103A>G						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Silent_p.L2458L	p.L2443L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7429	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2410					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.7329A>G	CCDS3702.1																																																																																				PASS	0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	153	10	153	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126241388	126241388	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:126241388C>T	ENST00000394329.3	+	1	3835	c.3822C>T	c.(3820-3822)gaC>gaT	p.D1274D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1274	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1274D(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAAATTAGACTATGAAGCAA	0.353																																						uc003ifj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3820-3822)GAC>GAT		FAT tumor suppressor homolog 4 precursor							85.0	79.0	81.0					4																	126241388		1877	4118	5995	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241388C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3822C>T	4.37:g.126241388C>T							p.D1274D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3822	+			1274			Cadherin 12.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3822C>T	CCDS3732.3																																																																																				PASS	0.353	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		14	187	14	187	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071806	134071806	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:134071806G>T	ENST00000264360.5	+	1	1337	c.511G>T	c.(511-513)Gtg>Ttg	p.V171L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	171	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V171L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCCCTGGACGTGCAGACCCA	0.632																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(511-513)GTG>TTG		protocadherin 10 isoform 1 precursor							67.0	62.0	63.0					4																	134071806		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071806G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.511G>T	4.37:g.134071806G>T	ENSP00000264360:p.Val171Leu					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V171L	p.V171L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1337	+			171			Extracellular (Potential).|Cadherin 2.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.511G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039359	0.55003	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.19532	2.14	4.63	3.75	0.43078	Cadherin (3);Cadherin-like (1);	0.000000	0.40818	N	0.001004	T	0.41604	0.1166	M	0.63428	1.95	0.54753	D	0.999982	D;B	0.71674	0.998;0.378	D;B	0.76575	0.988;0.403	T	0.18241	-1.0343	10	0.36615	T	0.2	.	14.0494	0.64727	0.0:0.1527:0.8473:0.0	.	171;171	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	171	ENSP00000264360:V171L	ENSP00000264360:V171L	V	+	1	0	PCDH10	134291256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	1.078000	0.41014	0.555000	0.69702	GTG		PASS	0.632	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		5	127	5	127	---	---	---	---
TMEM184C	55751	broad.mit.edu	37	4	148549579	148549579	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:148549579G>A	ENST00000296582.3	+	5	1139	c.565G>A	c.(565-567)Gtt>Att	p.V189I	TMEM184C_ENST00000508208.1_Missense_Mutation_p.V189I	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	189						integral component of membrane (GO:0016021)		p.V189I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CACCACCATCGTTGCTTTGTA	0.338																																						uc003ila.3																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)GTT>ATT		transmembrane protein 184C							175.0	158.0	163.0					4																	148549579		2203	4300	6503	SO:0001583	missense	55751					integral to membrane		g.chr4:148549579G>A	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.565G>A	4.37:g.148549579G>A	ENSP00000296582:p.Val189Ile						p.V189I	NM_018241	NP_060711	Q9NVA4	T184C_HUMAN			5	1134	+			189			Helical; (Potential).		D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.565G>A	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	G	3.681	-0.065544	0.07273	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.39592	1.07;1.07	5.69	-0.897	0.10553	.	0.317848	0.36409	N	0.002612	T	0.12050	0.0293	N	0.02685	-0.53	0.20563	N	0.99989	B	0.02656	0.0	B	0.04013	0.001	T	0.31998	-0.9923	10	0.02654	T	1	-10.4941	5.5254	0.16955	0.6251:0.0:0.2168:0.1581	.	189	Q9NVA4	T184C_HUMAN	I	189	ENSP00000296582:V189I;ENSP00000425940:V189I	ENSP00000296582:V189I	V	+	1	0	TMEM184C	148769029	0.956000	0.32656	0.184000	0.23157	0.994000	0.84299	2.141000	0.42168	-0.072000	0.12864	0.655000	0.94253	GTT		PASS	0.338	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		9	212	9	212	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155219360	155219360	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:155219360G>A	ENST00000357232.4	-	18	4740	c.4741C>T	c.(4741-4743)Cca>Tca	p.P1581S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1581	Cadherin 13. {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)	p.P1581S(1)		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)		TCCAAAACTGGATCATTGTCA	0.453																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(4741-4743)CCA>TCA		dachsous 2 isoform 1							106.0	104.0	105.0					4																	155219360		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219360G>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.4741C>T	4.37:g.155219360G>A	ENSP00000349768:p.Pro1581Ser						p.P1581S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4741	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1581			Cadherin 13.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4741C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727692	0.89390	.	.	ENSG00000197410	ENST00000357232	D	0.84800	-1.9	5.66	5.66	0.87406	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.96147	0.8744	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97374	0.9978	10	0.87932	D	0	.	20.1076	0.97898	0.0:0.0:1.0:0.0	.	1581	Q6V1P9	PCD23_HUMAN	S	1581	ENSP00000349768:P1581S	ENSP00000349768:P1581S	P	-	1	0	DCHS2	155438810	1.000000	0.71417	0.994000	0.49952	0.867000	0.49689	8.881000	0.92415	2.823000	0.97156	0.650000	0.86243	CCA		PASS	0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		13	186	13	186	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187539060	187539060	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:187539060C>A	ENST00000441802.2	-	10	8889	c.8680G>T	c.(8680-8682)Gaa>Taa	p.E2894*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2894	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2894*(1)|p.E2897*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGATCTTTTCACCATGATCT	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8680-8682)GAA>TAA		FAT tumor suppressor 1 precursor							169.0	157.0	161.0					4																	187539060		1997	4164	6161	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539060C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8680G>T	4.37:g.187539060C>A	ENSP00000406229:p.Glu2894*	HNSCC(5;0.00058)					p.E2894*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8868	-			2894			Extracellular (Potential).|Cadherin 26.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8680G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	48	14.905272	0.99815	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.75	4.75	0.60458	.	0.054483	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.2918	0.90133	0.0:1.0:0.0:0.0	.	.	.	.	X	2894;2896	.	ENSP00000260147:E2896X	E	-	1	0	FAT1	187776054	1.000000	0.71417	0.472000	0.27241	0.054000	0.15201	7.590000	0.82653	2.623000	0.88846	0.650000	0.86243	GAA		PASS	0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		30	120	30	120	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187554967	187554967	+	Silent	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr4:187554967G>A	ENST00000441802.2	-	7	4403	c.4194C>T	c.(4192-4194)taC>taT	p.Y1398Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1398	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y1398Y(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTGACTGTCGTAGTTGCCAC	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4192-4194)TAC>TAT		FAT tumor suppressor 1 precursor							157.0	144.0	148.0					4																	187554967		1912	4126	6038	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187554967G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4194C>T	4.37:g.187554967G>A		HNSCC(5;0.00058)					p.Y1398Y	NM_005245	NP_005236	Q14517	FAT1_HUMAN			7	4382	-			1398			Extracellular (Potential).|Cadherin 12.			Silent	SNP	ENST00000441802.2	37	c.4194C>T	CCDS47177.1																																																																																				PASS	0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	209	11	209	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13700924	13700924	+	Silent	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr5:13700924T>C	ENST00000265104.4	-	78	13652	c.13548A>G	c.(13546-13548)gaA>gaG	p.E4516E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4516					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E4516E(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTGGTGACTTCATTGCAAA	0.483									Kartagener syndrome																													uc003jfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13546-13548)GAA>GAG		dynein, axonemal, heavy chain 5							169.0	156.0	160.0					5																	13700924		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13700924T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13548A>G	5.37:g.13700924T>C						DNAH5_uc003jfc.2_Silent_p.E684E	p.E4516E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			78	13590	-	Lung NSC(4;0.00476)		4516					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.13548A>G	CCDS3882.1																																																																																				PASS	0.483	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		21	377	21	377	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31515208	31515208	+	Missense_Mutation	SNP	C	C	T	rs151137891		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr5:31515208C>T	ENST00000511367.2	-	7	1421	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	DROSHA_ENST00000513349.1_Missense_Mutation_p.E356K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E356K|DROSHA_ENST00000344624.3_Missense_Mutation_p.E393K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	393					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.E393K(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATGGTCTCCTCGGGCTCTTTT	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18383	0.0		0.0	False		,,,				2504	0.0					uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)GAG>AAG		ribonuclease III, nuclear isoform 1							152.0	147.0	148.0					5																	31515208		1893	4110	6003	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31515208C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1177G>A	5.37:g.31515208C>T	ENSP00000425979:p.Glu393Lys					RNASEN_uc003jhh.2_Missense_Mutation_p.E356K|RNASEN_uc003jhi.2_Missense_Mutation_p.E356K|RNASEN_uc010iui.1_Missense_Mutation_p.E316K	p.E393K	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			7	1536	-			393					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1177G>A	CCDS47195.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	19.56|19.56	3.850408|3.850408	0.71719|0.71719	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302|ENST00000512076	T;T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8;0.8|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.049256|.	0.85682|.	D|.	0.000000|.	T|T	0.56366|0.56366	0.1980|0.1980	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;P;P|.	0.54047|.	0.964;0.725;0.725|.	P;B;B|.	0.44696|.	0.458;0.058;0.058|.	T|T	0.49725|0.49725	-0.8909|-0.8909	10|5	0.26408|.	T|.	0.33|.	-19.1201|-19.1201	19.7025|19.7025	0.96060|0.96060	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	325;356;393|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	K|Q	393;393;356;356;318;349;160|154	ENSP00000425979:E393K;ENSP00000339845:E393K;ENSP00000409335:E356K;ENSP00000424161:E356K;ENSP00000428782:E160K|.	ENSP00000265075:E318K|.	E|R	-|-	1|2	0|0	DROSHA|DROSHA	31550965|31550965	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.025000|0.025000	0.11179|0.11179	7.487000|7.487000	0.81328|0.81328	2.664000|2.664000	0.90586|0.90586	0.561000|0.561000	0.74099|0.74099	GAG|CGA		PASS	0.463	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		24	279	24	279	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937978	33937978	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr5:33937978C>T	ENST00000330120.3	+	1	1488	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	378					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.A378V(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GTGTGCCTAGCGCACTCCAAC	0.617																																						uc003jic.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1132-1134)GCG>GTG		relaxin/insulin-like family peptide receptor 3							104.0	104.0	104.0					5																	33937978		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937978C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1133C>T	5.37:g.33937978C>T	ENSP00000328708:p.Ala378Val						p.A378V	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	1490	+			378			Cytoplasmic (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.1133C>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346633	0.95807	.	.	ENSG00000182631	ENST00000330120	T	0.40756	1.02	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78937	-0.2007	10	0.72032	D	0.01	-24.8433	20.0222	0.97508	0.0:1.0:0.0:0.0	.	378	Q9NSD7	RL3R1_HUMAN	V	378	ENSP00000328708:A378V	ENSP00000328708:A378V	A	+	2	0	RXFP3	33973735	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	7.794000	0.85869	2.726000	0.93360	0.655000	0.94253	GCG		PASS	0.617	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		11	104	11	104	---	---	---	---
C6	729	broad.mit.edu	37	5	41186243	41186243	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr5:41186243T>C	ENST00000263413.3	-	6	919	c.655A>G	c.(655-657)Aaa>Gaa	p.K219E	C6_ENST00000337836.5_Missense_Mutation_p.K219E|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	219	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.K219E(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGACAGTTTTACATATTCCT	0.438																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(655-657)AAA>GAA		complement component 6 precursor							124.0	116.0	118.0					5																	41186243		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41186243T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.655A>G	5.37:g.41186243T>C	ENSP00000263413:p.Lys219Glu					C6_uc003jml.1_Missense_Mutation_p.K219E	p.K219E	NM_000065	NP_000056	P13671	CO6_HUMAN			6	865	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	219			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.655A>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458290	0.26248	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.58506	0.33;0.33	5.98	3.53	0.40419	Membrane attack complex component/perforin (MACPF) domain (1);	0.602886	0.19770	N	0.106447	T	0.47040	0.1424	M	0.63428	1.95	0.27593	N	0.949208	B	0.12013	0.005	B	0.15484	0.013	T	0.42068	-0.9473	10	0.05620	T	0.96	-19.0521	8.7717	0.34735	0.0:0.066:0.1288:0.8051	.	219	P13671	CO6_HUMAN	E	219	ENSP00000338861:K219E;ENSP00000263413:K219E	ENSP00000263413:K219E	K	-	1	0	C6	41222000	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	2.910000	0.48766	0.476000	0.27440	0.528000	0.53228	AAA		PASS	0.438	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			31	166	31	166	---	---	---	---
RNF180	285671	broad.mit.edu	37	5	63510147	63510147	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr5:63510147C>A	ENST00000389100.4	+	4	1066	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	RNF180_ENST00000296615.6_Missense_Mutation_p.L332M|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	332	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L332M(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TCTGACTTTCCTGATGGACCT	0.512																																						uc003jti.2																			2	Substitution - Missense(2)		lung(2)		0						c.(994-996)CTG>ATG		ring finger protein 180 isoform 1							68.0	71.0	70.0					5																	63510147		2203	4300	6503	SO:0001583	missense	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63510147C>A	AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.994C>A	5.37:g.63510147C>A	ENSP00000373752:p.Leu332Met					RNF180_uc003jth.3_Missense_Mutation_p.L332M|RNF180_uc010iws.2_Intron	p.L332M	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	1104	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	332			Interaction with ZIC2 (By similarity).|Cytoplasmic (Potential).		Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	c.994C>A	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282178	0.40394	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.52295	0.67	5.86	3.02	0.34903	.	0.576164	0.17351	N	0.177401	T	0.55386	0.1917	M	0.64997	1.995	0.58432	D	0.999999	D;B	0.61080	0.989;0.433	P;B	0.53450	0.726;0.104	T	0.54886	-0.8226	10	0.72032	D	0.01	-0.3742	10.4848	0.44715	0.2414:0.4066:0.352:0.0	.	332;332	Q86T96;Q86T96-2	RN180_HUMAN;.	M	332	ENSP00000373752:L332M	ENSP00000296615:L332M	L	+	1	2	RNF180	63545903	0.163000	0.22920	0.998000	0.56505	0.877000	0.50540	-0.070000	0.11523	0.339000	0.23719	-0.169000	0.13324	CTG		PASS	0.512	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		27	122	27	122	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82835875	82835875	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr5:82835875C>A	ENST00000265077.3	+	8	7618	c.7053C>A	c.(7051-7053)ttC>ttA	p.F2351L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.F1364L|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2351	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.F2351L(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTCTCCCTTTCTCCACGGACA	0.458																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(7051-7053)TTC>TTA		versican isoform 1 precursor							80.0	75.0	77.0					5																	82835875		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835875C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7053C>A	5.37:g.82835875C>A	ENSP00000265077:p.Phe2351Leu					VCAN_uc003kij.3_Missense_Mutation_p.F1364L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.F1015L	p.F2351L	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7409	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2351			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.7053C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	6.493	0.459155	0.12342	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.39406	1.08;1.08	6.07	2.09	0.27110	.	0.405543	0.24056	N	0.041941	T	0.27663	0.0680	L	0.43152	1.355	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.20140	-1.0284	10	0.13108	T	0.6	.	5.9221	0.19088	0.27:0.5882:0.0:0.1418	.	1364;2351	P13611-2;P13611	.;CSPG2_HUMAN	L	2351;1364	ENSP00000265077:F2351L;ENSP00000340062:F1364L	ENSP00000265077:F2351L	F	+	3	2	VCAN	82871631	0.000000	0.05858	0.062000	0.19696	0.291000	0.27294	-0.212000	0.09319	0.436000	0.26393	0.650000	0.86243	TTC		PASS	0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	130	4	130	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82969301	82969301	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr5:82969301C>A	ENST00000274341.4	-	2	892	c.42G>T	c.(40-42)tgG>tgT	p.W14C	HAPLN1_ENST00000514416.1_Missense_Mutation_p.W14C	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	14					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.W14C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GATGATCAGCCCAGCAGATTG	0.398																																						uc003kim.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(40-42)TGG>TGT		hyaluronan and proteoglycan link protein 1							172.0	171.0	172.0					5																	82969301		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82969301C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.42G>T	5.37:g.82969301C>A	ENSP00000274341:p.Trp14Cys					HAPLN1_uc003kin.2_Missense_Mutation_p.W14C	p.W14C	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	1	113	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	14					B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.42G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488275	0.26686	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.21932	3.16;2.98;1.98;1.98;2.29;2.29;2.29	5.84	4.01	0.46588	.	0.565914	0.19436	N	0.114313	T	0.14056	0.0340	N	0.19112	0.55	0.58432	D	0.999999	P	0.39003	0.654	B	0.33392	0.163	T	0.03051	-1.1078	10	0.42905	T	0.14	.	15.0673	0.72005	0.2591:0.7409:0.0:0.0	.	14	P10915	HPLN1_HUMAN	C	14	ENSP00000274341:W14C;ENSP00000422592:W14C;ENSP00000421341:W14C;ENSP00000426610:W14C;ENSP00000422522:W14C;ENSP00000421726:W14C;ENSP00000423836:W14C	ENSP00000274341:W14C	W	-	3	0	HAPLN1	83005057	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.043000	0.41231	0.761000	0.33130	0.591000	0.81541	TGG		PASS	0.398	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		9	195	9	195	---	---	---	---
PDE6A	5145	broad.mit.edu	37	5	149240474	149240474	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr5:149240474G>C	ENST00000255266.5	-	22	2686	c.2567C>G	c.(2566-2568)tCc>tGc	p.S856C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	856					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.S856Y(1)|p.S856C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GATGCAGCAGGACTTGGATGT	0.562																																						uc003lrg.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2566-2568)TCC>TGC		phosphodiesterase 6A							79.0	73.0	75.0					5																	149240474		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149240474G>C		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2567C>G	5.37:g.149240474G>C	ENSP00000255266:p.Ser856Cys						p.S856C	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		22	2687	-			856					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.2567C>G	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609166	0.66558	.	.	ENSG00000132915	ENST00000255266	T	0.63580	-0.05	4.9	4.02	0.46733	.	0.357054	0.27060	N	0.021121	T	0.57460	0.2055	L	0.54323	1.7	0.41032	D	0.985168	D	0.55172	0.97	B	0.44044	0.439	T	0.62258	-0.6892	10	0.87932	D	0	.	9.4176	0.38530	0.0994:0.0:0.9006:0.0	.	856	P16499	PDE6A_HUMAN	C	856	ENSP00000255266:S856C	ENSP00000255266:S856C	S	-	2	0	PDE6A	149220667	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.275000	0.58927	1.171000	0.42768	0.561000	0.74099	TCC		PASS	0.562	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			3	55	3	55	---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161277820	161277820	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr5:161277820A>T	ENST00000428797.2	+	3	359	c.4A>T	c.(4-6)Agg>Tgg	p.R2W	GABRA1_ENST00000393943.4_Missense_Mutation_p.R2W|GABRA1_ENST00000420560.1_Missense_Mutation_p.R2W|GABRA1_ENST00000437025.2_Missense_Mutation_p.R2W|GABRA1_ENST00000444819.1_Missense_Mutation_p.R2W|GABRA1_ENST00000023897.6_Missense_Mutation_p.R2W	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	2					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R2W(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCCCGCGATGAGGAAAAGTCC	0.468																																						uc010jiw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4-6)AGG>TGG		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						106.0	103.0	104.0					5																	161277820		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161277820A>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.4A>T	5.37:g.161277820A>T	ENSP00000393097:p.Arg2Trp					GABRA1_uc010jix.2_Missense_Mutation_p.R2W|GABRA1_uc010jiy.2_Missense_Mutation_p.R2W|GABRA1_uc003lyx.3_Missense_Mutation_p.R2W|GABRA1_uc010jiz.2_Missense_Mutation_p.R2W|GABRA1_uc010jja.2_Missense_Mutation_p.R2W|GABRA1_uc010jjb.2_Missense_Mutation_p.R2W	p.R2W	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	3	472	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	2					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.4A>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652282	0.47362	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-0.48;-1.23;-0.48;-1.23;-0.46	5.37	5.37	0.77165	.	0.272856	0.37219	N	0.002199	T	0.59528	0.2200	N	0.08118	0	0.29028	N	0.885859	B	0.28900	0.227	B	0.19148	0.024	T	0.62215	-0.6901	10	0.87932	D	0	.	14.0184	0.64539	1.0:0.0:0.0:0.0	.	2	P14867	GBRA1_HUMAN	W	2;2;2;2;8;2;2;2;2	ENSP00000023897:R2W;ENSP00000393097:R2W;ENSP00000377517:R2W;ENSP00000415441:R2W;ENSP00000430895:R8W;ENSP00000408041:R2W;ENSP00000430507:R2W;ENSP00000414232:R2W;ENSP00000430435:R2W	ENSP00000023897:R2W	R	+	1	2	GABRA1	161210398	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	4.356000	0.59430	2.060000	0.61445	0.524000	0.50904	AGG		PASS	0.468	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		5	191	5	191	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17640218	17640218	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:17640218C>A	ENST00000262077.2	-	15	1797	c.1798G>T	c.(1798-1800)Gca>Tca	p.A600S	NUP153_ENST00000537253.1_Missense_Mutation_p.A631S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	600					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.A600S(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGGATTTCTGCAGGTCTAAAA	0.333																																						uc003ncd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(1798-1800)GCA>TCA		nucleoporin 153kDa							112.0	116.0	114.0					6																	17640218		2203	4299	6502	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17640218C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1798G>T	6.37:g.17640218C>A	ENSP00000262077:p.Ala600Ser					NUP153_uc011dje.1_Missense_Mutation_p.A631S|NUP153_uc010jpl.1_Intron	p.A600S	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		15	1998	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	600					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.1798G>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038003	0.93630	.	.	ENSG00000124789	ENST00000262077;ENST00000537253	T;T	0.35789	1.29;1.29	5.42	5.42	0.78866	Nucleoporin, Nup153-like (1);	0.000000	0.51477	D	0.000090	T	0.53384	0.1793	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.986	D;D	0.87578	0.998;0.957	T	0.52931	-0.8509	10	0.59425	D	0.04	-21.5113	19.5755	0.95441	0.0:1.0:0.0:0.0	.	631;600	F6QR24;P49790	.;NU153_HUMAN	S	600;631	ENSP00000262077:A600S;ENSP00000444029:A631S	ENSP00000262077:A600S	A	-	1	0	NUP153	17748197	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.774000	0.75012	2.700000	0.92200	0.585000	0.79938	GCA		PASS	0.333	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			18	310	18	310	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17640222	17640222	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:17640222T>G	ENST00000262077.2	-	15	1793	c.1794A>C	c.(1792-1794)agA>agC	p.R598S	NUP153_ENST00000537253.1_Missense_Mutation_p.R629S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	598					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.R598S(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTTCTGCAGGTCTAAAAGGAC	0.338																																						uc003ncd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(1792-1794)AGA>AGC		nucleoporin 153kDa							112.0	116.0	114.0					6																	17640222		2203	4299	6502	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17640222T>G	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1794A>C	6.37:g.17640222T>G	ENSP00000262077:p.Arg598Ser					NUP153_uc011dje.1_Missense_Mutation_p.R629S|NUP153_uc010jpl.1_Intron	p.R598S	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		15	1994	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	598					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.1794A>C	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669646	0.47677	.	.	ENSG00000124789	ENST00000262077;ENST00000537253	T;T	0.32988	1.43;1.43	5.42	4.1	0.47936	Nucleoporin, Nup153-like (1);	0.620304	0.15050	N	0.283361	T	0.12135	0.0295	L	0.40543	1.245	0.28045	N	0.933607	B;B	0.25390	0.102;0.125	B;B	0.27380	0.079;0.057	T	0.10042	-1.0647	10	0.62326	D	0.03	-0.7575	7.8101	0.29226	0.0:0.1781:0.0:0.8219	.	629;598	F6QR24;P49790	.;NU153_HUMAN	S	598;629	ENSP00000262077:R598S;ENSP00000444029:R629S	ENSP00000262077:R598S	R	-	3	2	NUP153	17748201	0.999000	0.42202	0.975000	0.42487	0.955000	0.61496	1.038000	0.30254	2.181000	0.69327	0.477000	0.44152	AGA		PASS	0.338	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			19	308	19	308	---	---	---	---
HIST1H1D	3007	broad.mit.edu	37	6	26234964	26234964	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:26234964C>T	ENST00000244534.5	-	1	252	c.198G>A	c.(196-198)gcG>gcA	p.A66A		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	66	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A66A(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CAGCCGCAAGCGCTTTCTTAA	0.537																																						uc003nhd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(196-198)GCG>GCA		histone cluster 1, H1d							75.0	84.0	81.0					6																	26234964		2203	4300	6503	SO:0001819	synonymous_variant	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234964C>T	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.198G>A	6.37:g.26234964C>T							p.A66A	NM_005320	NP_005311	P16402	H13_HUMAN			1	253	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	66			H15.		B2R751|Q2M2I2	Silent	SNP	ENST00000244534.5	37	c.198G>A	CCDS4597.1																																																																																				PASS	0.537	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		12	161	12	161	---	---	---	---
HIST1H2BK	85236	broad.mit.edu	37	6	27114544	27114544	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:27114544T>A	ENST00000356950.1	-	1	33	c.34A>T	c.(34-36)Aag>Tag	p.K12*	HIST1H2BK_ENST00000396891.4_Nonsense_Mutation_p.K12*|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	12					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K12*(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GAGCCCTTCTTGGGCGCGGGA	0.577																																						uc003nix.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(34-36)AAG>TAG		histone cluster 1, H2bk							82.0	78.0	79.0					6																	27114544		2203	4300	6503	SO:0001587	stop_gained	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114544T>A	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.34A>T	6.37:g.27114544T>A	ENSP00000349430:p.Lys12*					HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.K12*	NM_080593	NP_542160	O60814	H2B1K_HUMAN			1	76	-			12					A8K7P7|Q2VPI7	Nonsense_Mutation	SNP	ENST00000356950.1	37	c.34A>T	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257432	0.59321	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5972	0.50981	0.0:0.0:0.0:1.0	.	.	.	.	X	12	.	ENSP00000349430:K12X	K	-	1	0	HIST1H2BK	27222523	1.000000	0.71417	0.996000	0.52242	0.088000	0.18126	7.093000	0.76937	1.783000	0.52377	0.528000	0.53228	AAG		PASS	0.577	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		13	212	13	212	---	---	---	---
PHF1	5252	broad.mit.edu	37	6	33381294	33381294	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:33381294A>G	ENST00000374516.3	+	6	818	c.547A>G	c.(547-549)Aac>Gac	p.N183D	PHF1_ENST00000374512.3_Missense_Mutation_p.N183D	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	183					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N183D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACATCTGAGCAACCGACAGCA	0.557																																						uc003oeh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(547-549)AAC>GAC		PHD finger protein 1 isoform b							72.0	70.0	70.0					6																	33381294		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33381294A>G	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.547A>G	6.37:g.33381294A>G	ENSP00000363640:p.Asn183Asp					PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.N183D|PHF1_uc010jux.2_5'UTR	p.N183D	NM_024165	NP_077084	O43189	PHF1_HUMAN			6	783	+		Ovarian(999;0.0443)	183					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.547A>G	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591824	0.86953	.	.	ENSG00000112511	ENST00000428274;ENST00000374512;ENST00000374516	T;T;T	0.30182	1.54;1.54;1.54	5.08	5.08	0.68730	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.047909	0.85682	D	0.000000	T	0.49457	0.1558	M	0.82823	2.61	0.54753	D	0.999986	D;P	0.89917	1.0;0.941	D;B	0.80764	0.994;0.432	T	0.57860	-0.7738	10	0.87932	D	0	-10.9218	12.8467	0.57833	1.0:0.0:0.0:0.0	.	183;183	O43189-2;O43189	.;PHF1_HUMAN	D	183	ENSP00000392697:N183D;ENSP00000363636:N183D;ENSP00000363640:N183D	ENSP00000363636:N183D	N	+	1	0	PHF1	33489272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.013000	0.93629	2.127000	0.65507	0.533000	0.62120	AAC		PASS	0.557	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			17	66	17	66	---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34004261	34004261	+	Silent	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:34004261G>A	ENST00000538487.2	-	9	2069	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Silent_p.C426C|GRM4_ENST00000535756.1_Silent_p.C409C|GRM4_ENST00000455714.2_Silent_p.C402C|GRM4_ENST00000544773.2_Silent_p.C373C|GRM4_ENST00000374181.4_Silent_p.C542C|GRM4_ENST00000609222.1_Silent_p.C409C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	542					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.C542C(2)|p.C426C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCAAGGCTCGCAGTGCCAGC	0.657																																						uc003oir.3																			3	Substitution - coding silent(3)		lung(3)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1624-1626)TGC>TGT		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						74.0	58.0	63.0					6																	34004261		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004261G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1626C>T	6.37:g.34004261G>A						GRM4_uc011dsn.1_Silent_p.C495C|GRM4_uc010jvh.2_Silent_p.C542C|GRM4_uc010jvi.2_Silent_p.C234C|GRM4_uc003oio.2_Silent_p.C234C|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.C402C|GRM4_uc003oiq.2_Silent_p.C409C|GRM4_uc011dsm.1_Silent_p.C373C	p.C542C	NM_000841	NP_000832	Q14833	GRM4_HUMAN			8	1796	-			542			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1626C>T	CCDS4787.1																																																																																				PASS	0.657	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			33	102	33	102	---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34499478	34499478	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:34499478C>T	ENST00000538621.1	+	9	1384	c.1139C>T	c.(1138-1140)cCc>cTc	p.P380L	PACSIN1_ENST00000374043.2_Missense_Mutation_p.P338L|PACSIN1_ENST00000244458.2_Missense_Mutation_p.P380L	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	380					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)	p.P380H(1)|p.P380L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGCGCCAACCCCTTTGAGGAC	0.642																																						uc003ojo.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1138-1140)CCC>CTC		protein kinase C and casein kinase substrate in							94.0	101.0	99.0					6																	34499478		2203	4300	6503	SO:0001583	missense	29993				endocytosis		protein kinase activity	g.chr6:34499478C>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1139C>T	6.37:g.34499478C>T	ENSP00000439639:p.Pro380Leu					PACSIN1_uc003ojp.2_Missense_Mutation_p.P380L	p.P380L	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			9	1345	+			380					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.1139C>T	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743874	0.89663	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.25579	1.79;1.79;1.79	4.94	4.94	0.65067	.	0.119998	0.64402	D	0.000019	T	0.29028	0.0721	M	0.71036	2.16	0.80722	D	1	D	0.56035	0.974	P	0.47981	0.563	T	0.09862	-1.0655	10	0.54805	T	0.06	-19.7913	17.9595	0.89081	0.0:1.0:0.0:0.0	.	380	Q9BY11	PACN1_HUMAN	L	380;338;380;380	ENSP00000244458:P380L;ENSP00000363155:P338L;ENSP00000439639:P380L	ENSP00000244458:P380L	P	+	2	0	PACSIN1	34607456	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.314000	0.78988	2.583000	0.87209	0.561000	0.74099	CCC		PASS	0.642	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			9	264	9	264	---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39864710	39864710	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:39864710G>C	ENST00000398904.2	+	20	2646	c.2464G>C	c.(2464-2466)Gtg>Ctg	p.V822L	RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.V822L|RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.V822L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	822	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.V822L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGGGTTCCGGGTGGCCAGCCT	0.597																																						uc003oow.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2464-2466)GTG>CTG		dishevelled associated activator of							38.0	44.0	42.0					6																	39864710		2044	4170	6214	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864710G>C	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2464G>C	6.37:g.39864710G>C	ENSP00000381876:p.Val822Leu					DAAM2_uc003oox.2_Missense_Mutation_p.V822L	p.V822L	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			20	2620	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		822			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2464G>C	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310679	0.23821	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.04809	3.55;3.55;3.55	4.66	4.66	0.58398	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.245803	0.33854	N	0.004484	T	0.00845	0.0028	N	0.01751	-0.74	0.80722	D	1	B;B	0.23316	0.067;0.083	B;B	0.31101	0.051;0.124	T	0.41215	-0.9521	10	0.02654	T	1	.	16.4674	0.84083	0.0:0.0:1.0:0.0	.	822;822	G5EA45;Q86T65	.;DAAM2_HUMAN	L	822	ENSP00000274867:V822L;ENSP00000381876:V822L;ENSP00000437808:V822L	ENSP00000274867:V822L	V	+	1	0	DAAM2	39972688	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.767000	0.47637	2.433000	0.82419	0.561000	0.74099	GTG		PASS	0.597	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			9	59	9	59	---	---	---	---
TBCC	6903	broad.mit.edu	37	6	42713543	42713543	+	Missense_Mutation	SNP	C	C	G	rs531472211		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:42713543C>G	ENST00000372876.1	-	1	291	c.269G>C	c.(268-270)cGg>cCg	p.R90P	TBCC_ENST00000244625.2_Missense_Mutation_p.R90P	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	90					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.R90P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CCCCTGGAGCCGAGAGGCCGC	0.647																																						uc003osl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)CGG>CCG		beta-tubulin cofactor C							35.0	43.0	40.0					6																	42713543		2203	4298	6501	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713543C>G	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.269G>C	6.37:g.42713543C>G	ENSP00000361967:p.Arg90Pro						p.R90P	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	342	-	Colorectal(47;0.196)		90					Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.269G>C	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948747	0.73787	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.14893	2.47;2.47	5.13	5.13	0.70059	.	0.127437	0.52532	D	0.000070	T	0.33118	0.0852	M	0.76328	2.33	0.53688	D	0.999978	D	0.89917	1.0	D	0.74348	0.983	T	0.02269	-1.1185	10	0.28530	T	0.3	-8.2818	18.5471	0.91052	0.0:1.0:0.0:0.0	.	90	Q15814	TBCC_HUMAN	P	90	ENSP00000361967:R90P;ENSP00000244625:R90P	ENSP00000244625:R90P	R	-	2	0	TBCC	42821521	1.000000	0.71417	0.984000	0.44739	0.982000	0.71751	3.344000	0.52174	2.547000	0.85894	0.557000	0.71058	CGG		PASS	0.647	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		5	72	5	72	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96053893	96053893	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:96053893C>T	ENST00000358812.4	+	5	1135	c.1001C>T	c.(1000-1002)tCa>tTa	p.S334L	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	334	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.S334L(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TATGGCTCATCACATCAGAAT	0.363																																						uc003poo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1000-1002)TCA>TTA		mannosidase, endo-alpha							60.0	63.0	62.0					6																	96053893		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053893C>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1001C>T	6.37:g.96053893C>T	ENSP00000351669:p.Ser334Leu						p.S334L	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1141	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	334			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1001C>T	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195788	0.94960	.	.	ENSG00000172469	ENST00000358812	D	0.91237	-2.81	6.17	6.17	0.99709	.	0.055575	0.64402	D	0.000001	D	0.93197	0.7833	M	0.83012	2.62	0.80722	D	1	D	0.69078	0.997	P	0.55161	0.77	D	0.90316	0.4341	10	0.23302	T	0.38	-16.0517	19.8676	0.96824	0.0:1.0:0.0:0.0	.	334	Q5SRI9	MANEA_HUMAN	L	334	ENSP00000351669:S334L	ENSP00000351669:S334L	S	+	2	0	MANEA	96160614	1.000000	0.71417	0.983000	0.44433	0.967000	0.64934	5.640000	0.67875	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.363	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		13	151	13	151	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152660412	152660412	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:152660412T>G	ENST00000367255.5	-	75	12916	c.12315A>C	c.(12313-12315)aaA>aaC	p.K4105N	SYNE1_ENST00000448038.1_Missense_Mutation_p.K4034N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3970N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K4034N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K4105N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4105					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K4105N(2)|p.K4034N(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTGTGGTTTTCACCGAAG	0.393										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12313-12315)AAA>AAC		spectrin repeat containing, nuclear envelope 1							144.0	135.0	138.0					6																	152660412		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152660412T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12315A>C	6.37:g.152660412T>G	ENSP00000356224:p.Lys4105Asn	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.K4034N|SYNE1_uc003qou.3_Missense_Mutation_p.K4105N|SYNE1_uc010kja.1_Missense_Mutation_p.K810N	p.K4105N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	75	12917	-		Ovarian(120;0.0955)	4105			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12315A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010791	0.54361	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.84	2.14	0.27477	.	0.000000	0.64402	D	0.000002	T	0.32793	0.0841	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.57571	0.965;0.965;0.965;0.98	P;P;P;P	0.58721	0.722;0.722;0.722;0.844	T	0.12863	-1.0531	10	0.59425	D	0.04	.	7.3908	0.26909	0.0:0.4312:0.0:0.5688	.	4105;4105;4105;4034	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	4105;4034;4105;4034;3970	ENSP00000356224:K4105N;ENSP00000396024:K4034N;ENSP00000265368:K4105N;ENSP00000390975:K4034N;ENSP00000341887:K3970N	ENSP00000265368:K4105N	K	-	3	2	SYNE1	152702105	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	1.192000	0.32150	0.458000	0.26988	0.533000	0.62120	AAA		PASS	0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	161	8	161	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159618523	159618523	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr6:159618523T>A	ENST00000297267.9	+	2	370	c.170T>A	c.(169-171)gTc>gAc	p.V57D	FNDC1_ENST00000340366.6_Missense_Mutation_p.V57D	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	57	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V57D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGCCTGAAAGTCACGTGGGAC	0.453																																						uc010kjv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(169-171)GTC>GAC		fibronectin type III domain containing 1							162.0	154.0	156.0					6																	159618523		1965	4145	6110	SO:0001583	missense	84624					extracellular region		g.chr6:159618523T>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.170T>A	6.37:g.159618523T>A	ENSP00000297267:p.Val57Asp					FNDC1_uc010kjw.1_Missense_Mutation_p.V5D	p.V57D	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	2	370	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	57			Fibronectin type-III 1.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.170T>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.84|17.84	3.487546|3.487546	0.63962|0.63962	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.60299	.|0.2;0.2	6.13|6.13	6.13|6.13	0.99165|0.99165	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.083316	.|0.47455	.|D	.|0.000240	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.64875|0.64875	-0.6304|-0.6304	5|10	.|0.87932	.|D	.|0	-32.2532|-32.2532	13.1979|13.1979	0.59749|0.59749	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|57;57	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	R|D	15|57	.|ENSP00000297267:V57D;ENSP00000342460:V57D	.|ENSP00000297267:V57D	S|V	+|+	3|2	2|0	FNDC1|FNDC1	159538511|159538511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.997000|4.997000	0.63921|0.63921	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	AGT|GTC		PASS	0.453	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		5	282	5	282	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11501650	11501650	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:11501650C>A	ENST00000423059.4	-	10	2740	c.2489G>T	c.(2488-2490)tGc>tTc	p.C830F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	830	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C830F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTAGCTTTGGCACGCTTGAGG	0.527										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2488-2490)TGC>TTC		thrombospondin, type I, domain containing 7A							237.0	226.0	230.0					7																	11501650		1999	4169	6168	SO:0001583	missense	221981					integral to membrane		g.chr7:11501650C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2489G>T	7.37:g.11501650C>A	ENSP00000406482:p.Cys830Phe	HNSCC(18;0.044)					p.C830F	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	10	2741	-			830			TSP type-1 8.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2489G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176001	0.57692	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.74315	-0.83	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.89494	0.6731	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87992	0.2750	10	0.10377	T	0.69	.	17.6166	0.88069	0.0:1.0:0.0:0.0	.	830	Q9UPZ6	THS7A_HUMAN	F	830	ENSP00000406482:C830F	ENSP00000262042:C830F	C	-	2	0	THSD7A	11468175	1.000000	0.71417	0.997000	0.53966	0.287000	0.27160	6.760000	0.74939	2.902000	0.99343	0.650000	0.86243	TGC		PASS	0.527	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		8	501	8	501	---	---	---	---
INMT	11185	broad.mit.edu	37	7	30791874	30791874	+	Silent	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:30791874G>A	ENST00000013222.5	+	1	124	c.108G>A	c.(106-108)gaG>gaA	p.E36E	INMT_ENST00000409539.1_Silent_p.E36E|INMT-FAM188B_ENST00000458257.1_Silent_p.E36E|INMT_ENST00000484180.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	36					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.E36E(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CCGAGGCCGAGATGCTGAAGT	0.577																																						uc003tbs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)GAG>GAA		indolethylamine N-methyltransferase							105.0	99.0	101.0					7																	30791874		2203	4300	6503	SO:0001819	synonymous_variant	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30791874G>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.108G>A	7.37:g.30791874G>A						FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Silent_p.E36E	p.E36E	NM_006774	NP_006765	O95050	INMT_HUMAN			1	124	+			36					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	c.108G>A	CCDS5430.1																																																																																				PASS	0.577	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		35	118	35	118	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31862822	31862822	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:31862822C>A	ENST00000396191.1	-	14	1902	c.1447G>T	c.(1447-1449)Gtc>Ttc	p.V483F	PDE1C_ENST00000396184.3_Missense_Mutation_p.V483F|PDE1C_ENST00000479980.1_5'Flank|PDE1C_ENST00000321453.7_Missense_Mutation_p.V483F|PDE1C_ENST00000396193.1_Missense_Mutation_p.V543F|PDE1C_ENST00000396182.2_Missense_Mutation_p.V483F	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	483	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.V483F(2)|p.V543F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GAGGTCTTGACACCTGATCGC	0.433																																						uc003tcm.1																			3	Substitution - Missense(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(1447-1449)GTC>TTC		phosphodiesterase 1C							95.0	86.0	89.0					7																	31862822		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862822C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1447G>T	7.37:g.31862822C>A	ENSP00000379494:p.Val483Phe					PDE1C_uc003tcn.1_Missense_Mutation_p.V483F|PDE1C_uc003tco.1_Missense_Mutation_p.V543F|PDE1C_uc003tcr.2_Missense_Mutation_p.V483F|PDE1C_uc003tcs.2_Missense_Mutation_p.V483F	p.V483F	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		14	1916	-			483			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1447G>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437719	0.62955	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73469	-0.75;-0.74;-0.74;-0.7;-0.7	5.91	5.03	0.67393	.	0.939132	0.08980	N	0.865919	T	0.68293	0.2985	L	0.32530	0.975	0.54753	D	0.999988	B;B;P	0.40398	0.011;0.022;0.716	B;B;B	0.37989	0.019;0.015;0.262	T	0.61182	-0.7114	10	0.38643	T	0.18	.	16.0986	0.81148	0.1351:0.8649:0.0:0.0	.	483;543;483	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	F	543;483;483;483;483	ENSP00000379496:V543F;ENSP00000379494:V483F;ENSP00000318105:V483F;ENSP00000379487:V483F;ENSP00000379485:V483F	ENSP00000318105:V483F	V	-	1	0	PDE1C	31829347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.859000	0.48364	1.480000	0.48289	0.655000	0.94253	GTC		PASS	0.433	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			26	134	26	134	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87056086	87056086	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:87056086C>A	ENST00000265723.4	-	16	2155	c.2044G>T	c.(2044-2046)Gat>Tat	p.D682Y	ABCB4_ENST00000358400.3_Missense_Mutation_p.D682Y|ABCB4_ENST00000359206.3_Missense_Mutation_p.D682Y|ABCB4_ENST00000545634.1_Missense_Mutation_p.D682Y|ABCB4_ENST00000453593.1_Missense_Mutation_p.D682Y	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	682					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.D682Y(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTTTCCACATCAAGGCTCTTC	0.363																																						uc003uiv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(2044-2046)GAT>TAT		ATP-binding cassette, subfamily B, member 4							100.0	98.0	99.0					7																	87056086		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87056086C>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2044G>T	7.37:g.87056086C>A	ENSP00000265723:p.Asp682Tyr					ABCB4_uc003uiw.1_Missense_Mutation_p.D682Y|ABCB4_uc003uix.1_Missense_Mutation_p.D682Y	p.D682Y	NM_018849	NP_061337	P21439	MDR3_HUMAN			16	2120	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		682			Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2044G>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	8.174	0.792423	0.16258	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.87966	-2.24;-2.32;-2.29;-2.32;-2.24	4.92	2.02	0.26589	.	1.420430	0.04062	N	0.306605	D	0.89238	0.6658	L	0.47190	1.495	0.09310	N	0.999994	B;D;D	0.57571	0.263;0.98;0.966	B;P;P	0.55824	0.096;0.785;0.615	T	0.74225	-0.3734	10	0.62326	D	0.03	-9.2705	8.0818	0.30750	0.0:0.7364:0.0:0.2635	.	682;682;682	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Y	682	ENSP00000352135:D682Y;ENSP00000351172:D682Y;ENSP00000265723:D682Y;ENSP00000392983:D682Y;ENSP00000437465:D682Y	ENSP00000265723:D682Y	D	-	1	0	ABCB4	86894022	0.173000	0.23056	0.003000	0.11579	0.000000	0.00434	0.625000	0.24477	0.226000	0.20979	-0.345000	0.07892	GAT		PASS	0.363	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		17	161	17	161	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87179536	87179536	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:87179536C>A	ENST00000265724.3	-	13	1718	c.1301G>T	c.(1300-1302)aGc>aTc	p.S434I	ABCB1_ENST00000543898.1_Missense_Mutation_p.S370I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	434	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S434I(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GACTGTTGTGCTCTTCCCACA	0.552																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1300-1302)AGC>ATC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						111.0	80.0	90.0					7																	87179536		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179536C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1301G>T	7.37:g.87179536C>A	ENSP00000265724:p.Ser434Ile					ABCB1_uc011khc.1_Missense_Mutation_p.S370I	p.S434I	NM_000927	NP_000918	P08183	MDR1_HUMAN			13	1719	-	Esophageal squamous(14;0.00164)		434			ATP 1 (By similarity).|ABC transporter 1.|Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1301G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978819	0.92982	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.97888	-4.59;-4.59	6.16	6.16	0.99307	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.982;0.989	D	0.98600	1.0658	10	0.87932	D	0	-25.3079	20.8598	0.99761	0.0:1.0:0.0:0.0	.	370;434	B5AK60;P08183	.;MDR1_HUMAN	I	215;434;370	ENSP00000265724:S434I;ENSP00000444095:S370I	ENSP00000265724:S434I	S	-	2	0	ABCB1	87017472	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	AGC		PASS	0.552	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		7	53	7	53	---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106791406	106791406	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:106791406G>T	ENST00000265717.4	+	7	1040	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	261					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.A261S(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GAAAAACAATGCCAAAAAGAG	0.313																																						uc003vdx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(781-783)GCC>TCC		cAMP-dependent protein kinase, regulatory							72.0	75.0	74.0					7																	106791406		2203	4299	6502	SO:0001583	missense	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106791406G>T		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.781G>T	7.37:g.106791406G>T	ENSP00000265717:p.Ala261Ser						p.A261S	NM_002736	NP_002727	P31323	KAP3_HUMAN			7	956	+			261			cAMP 1.		A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	c.781G>T	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905389	0.72868	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	T	0.42513	0.97	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	L	0.53617	1.68	0.80722	D	1	D	0.56968	0.978	D	0.68039	0.955	T	0.48043	-0.9069	10	0.19590	T	0.45	-5.7929	19.6568	0.95845	0.0:0.0:1.0:0.0	.	261	P31323	KAP3_HUMAN	S	261;261;248	ENSP00000265717:A261S	ENSP00000265717:A261S	A	+	1	0	PRKAR2B	106578642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.656000	0.90262	0.650000	0.86243	GCC		PASS	0.313	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			5	47	5	47	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764114	110764114	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:110764114C>G	ENST00000422987.3	+	2	2117	c.1286C>G	c.(1285-1287)cCt>cGt	p.P429R	IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P429R|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.P429R|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	429	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P429R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GAGAGCTTTCCTTCTAATCTA	0.453																																						uc003vft.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1285-1287)CCT>CGT		leucine rich repeat neuronal 3 precursor							113.0	118.0	116.0					7																	110764114		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764114C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1286C>G	7.37:g.110764114C>G	ENSP00000412417:p.Pro429Arg					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P429R|LRRN3_uc003vfs.3_Missense_Mutation_p.P429R	p.P429R	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2332	+			429			Extracellular (Potential).|Ig-like C2-type.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1286C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546455	0.65198	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	D;D;D	0.96940	-4.18;-4.18;-4.18	6.01	6.01	0.97437	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	D	0.98645	0.9546	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	10	0.87932	D	0	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	429	Q9H3W5	LRRN3_HUMAN	R	429	ENSP00000312001:P429R;ENSP00000397312:P429R;ENSP00000412417:P429R	ENSP00000312001:P429R	P	+	2	0	LRRN3	110551350	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	CCT		PASS	0.453	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		35	286	35	286	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111448922	111448922	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:111448922G>A	ENST00000437633.1	-	30	3377	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	DOCK4_ENST00000428084.1_Missense_Mutation_p.R1041W|DOCK4-AS1_ENST00000452714.1_RNA	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1041					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R1041W(1)|p.R1029W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATTGTTACCCGCATGTCACCA	0.403																																						uc003vfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(3121-3123)CGG>TGG		dedicator of cytokinesis 4							94.0	83.0	86.0					7																	111448922		1894	4131	6025	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111448922G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3121C>T	7.37:g.111448922G>A	ENSP00000404179:p.Arg1041Trp					DOCK4_uc003vfw.2_Missense_Mutation_p.R482W|DOCK4_uc003vfy.2_Missense_Mutation_p.R1077W|uc003vfz.2_Intron	p.R1041W	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			30	3390	-		Acute lymphoblastic leukemia(1;0.0441)	1041					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3121C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172416	0.78452	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.58060	0.36;0.36	5.37	5.37	0.77165	.	0.052303	0.85682	D	0.000000	T	0.77592	0.4153	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.81050	-0.1108	10	0.87932	D	0	.	18.9052	0.92458	0.0:0.0:1.0:0.0	.	1077;1041;1041	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	W	1029;1041;1041;1029;1040	ENSP00000410746:R1041W;ENSP00000404179:R1041W	ENSP00000345432:R1029W	R	-	1	2	DOCK4	111236158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.179000	0.42528	2.782000	0.95742	0.557000	0.71058	CGG		PASS	0.403	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		3	43	3	43	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113518838	113518838	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:113518838T>A	ENST00000284601.3	-	4	2377	c.2309A>T	c.(2308-2310)gAa>gTa	p.E770V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	770					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.E770V(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAACGCTGTTTCCTTTACCTC	0.403																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2308-2310)GAA>GTA		protein phosphatase 1, regulatory (inhibitor)							126.0	109.0	115.0					7																	113518838		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518838T>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2309A>T	7.37:g.113518838T>A	ENSP00000284601:p.Glu770Val						p.E770V	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2340	-			770					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2309A>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948630	0.53186	.	.	ENSG00000154415	ENST00000284601	T	0.39229	1.09	5.77	3.4	0.38934	.	0.262056	0.33127	N	0.005248	T	0.59211	0.2177	M	0.72894	2.215	0.34307	D	0.685022	D	0.89917	1.0	D	0.85130	0.997	T	0.68685	-0.5343	10	0.87932	D	0	-2.2078	8.2441	0.31677	0.0:0.2155:0.0:0.7845	.	770	Q16821	PPR3A_HUMAN	V	770	ENSP00000284601:E770V	ENSP00000284601:E770V	E	-	2	0	PPP1R3A	113306074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.055000	0.41345	0.459000	0.27016	0.528000	0.53228	GAA		PASS	0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		12	259	12	259	---	---	---	---
ASZ1	136991	broad.mit.edu	37	7	117007445	117007445	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:117007445C>T	ENST00000284629.2	-	12	1298	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.L412L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CCTTTTCACTCAAATCTTCAA	0.318																																						uc003vjb.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1234-1236)TTG>TTA		ankyrin repeat, SAM and basic leucine zipper							53.0	52.0	53.0					7																	117007445		2202	4296	6498	SO:0001819	synonymous_variant	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117007445C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1236G>A	7.37:g.117007445C>T						ASZ1_uc011kno.1_Silent_p.L403L|ASZ1_uc011knp.1_Silent_p.L204L	p.L412L	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		12	1299	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		412						Silent	SNP	ENST00000284629.2	37	c.1236G>A	CCDS5772.1																																																																																				PASS	0.318	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		5	54	5	54	---	---	---	---
OR2F1	26211	broad.mit.edu	37	7	143657678	143657678	+	Silent	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:143657678T>C	ENST00000392899.1	+	1	652	c.615T>C	c.(613-615)gtT>gtC	p.V205V	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	205					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V205V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTAGCATTGTTCTTCTGATGA	0.468																																						uc003wds.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(613-615)GTT>GTC		olfactory receptor, family 2, subfamily F,							242.0	212.0	222.0					7																	143657678		2203	4300	6503	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657678T>C	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.615T>C	7.37:g.143657678T>C							p.V205V	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	659	+	Melanoma(164;0.0903)		205			Helical; Name=5; (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.615T>C	CCDS5887.1																																																																																				PASS	0.468	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			6	190	6	190	---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150648568	150648568	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr7:150648568T>C	ENST00000262186.5	-	7	2314	c.1913A>G	c.(1912-1914)aAg>aGg	p.K638R	KCNH2_ENST00000430723.3_Missense_Mutation_p.K638R|KCNH2_ENST00000330883.4_Missense_Mutation_p.K298R|KCNH2_ENST00000392968.2_Missense_Mutation_p.K542R	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	638			K -> E (in LQT2).|Missing (in LQT2).		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.K638R(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GGAGAAGATCTTCTCTGAGTT	0.587																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(1912-1914)AAG>AGG		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						100.0	97.0	98.0					7																	150648568		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648568T>C	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1913A>G	7.37:g.150648568T>C	ENSP00000262186:p.Lys638Arg					KCNH2_uc003wib.2_Missense_Mutation_p.K298R|KCNH2_uc011kux.1_Missense_Mutation_p.K542R|KCNH2_uc003wid.2_Missense_Mutation_p.K298R|KCNH2_uc003wie.2_Missense_Mutation_p.K638R	p.K638R	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1926	-	all_neural(206;0.219)		638		K -> E (in LQT2).|Missing (in LQT2).	Extracellular (Potential).		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1913A>G	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914938	0.72983	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	4.25	2.99	0.34606	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	L	0.47190	1.495	0.36321	D	0.858236	D;D;B;P;P	0.89917	0.999;1.0;0.338;0.944;0.511	D;D;P;P;B	0.83275	0.996;0.996;0.456;0.852;0.28	D	0.97288	0.9922	10	0.87932	D	0	.	7.7378	0.28825	0.1877:0.0:0.0:0.8123	.	542;638;298;638;298	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	R	298;542;638;298;638	ENSP00000328531:K298R;ENSP00000376695:K542R;ENSP00000262186:K638R;ENSP00000387657:K638R	ENSP00000262186:K638R	K	-	2	0	KCNH2	150279501	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.710000	0.84655	1.564000	0.49628	0.260000	0.18958	AAG		PASS	0.587	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		11	215	11	215	---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25897562	25897562	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr8:25897562G>A	ENST00000520164.1	-	5	1001	c.464C>T	c.(463-465)aCg>aTg	p.T155M	EBF2_ENST00000408929.3_Missense_Mutation_p.T7M	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	155					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T155M(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CACTTCGTGCGTCAGGAGAAC	0.602																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(3)|skin(1)	4						c.(463-465)ACG>ATG		early B-cell factor 2							155.0	153.0	154.0					8																	25897562		1921	4135	6056	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25897562G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.464C>T	8.37:g.25897562G>A	ENSP00000430241:p.Thr155Met					PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.T155M	p.T155M	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	5	481	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	155			C5-type (Potential).		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.464C>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746561	0.89663	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.65178	0.02;-0.14	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	D	0.82898	0.5137	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85641	0.1276	10	0.87932	D	0	-0.2061	19.4023	0.94635	0.0:0.0:1.0:0.0	.	155	Q9HAK2	COE2_HUMAN	M	155;7	ENSP00000430241:T155M;ENSP00000386178:T7M	ENSP00000386178:T7M	T	-	2	0	EBF2	25953479	1.000000	0.71417	0.966000	0.40874	0.959000	0.62525	9.747000	0.98863	2.573000	0.86826	0.655000	0.94253	ACG		PASS	0.602	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		30	269	30	269	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55537790	55537790	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr8:55537790C>G	ENST00000220676.1	+	4	1496	c.1348C>G	c.(1348-1350)Cct>Gct	p.P450A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	450					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.P450A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTATAGGCCCCCTACACCTGG	0.438																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(1348-1350)CCT>GCT		retinitis pigmentosa RP1 protein							75.0	78.0	77.0					8																	55537790		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537790C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1348C>G	8.37:g.55537790C>G	ENSP00000220676:p.Pro450Ala					RP1_uc011ldy.1_Intron	p.P450A	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1496	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	450						Missense_Mutation	SNP	ENST00000220676.1	37	c.1348C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559870	0.65538	.	.	ENSG00000104237	ENST00000220676	T	0.75154	-0.91	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000024	T	0.81278	0.4789	L	0.34521	1.04	0.49483	D	0.999792	D	0.89917	1.0	D	0.81914	0.995	D	0.83462	0.0054	10	0.87932	D	0	.	18.964	0.92687	0.0:1.0:0.0:0.0	.	450	P56715	RP1_HUMAN	A	450	ENSP00000220676:P450A	ENSP00000220676:P450A	P	+	1	0	RP1	55700343	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.630000	0.61297	2.480000	0.83734	0.655000	0.94253	CCT		PASS	0.438	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		18	154	18	154	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70617409	70617409	+	Silent	SNP	T	T	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr8:70617409T>G	ENST00000260126.4	-	6	2185	c.1479A>C	c.(1477-1479)atA>atC	p.I493I	SLCO5A1_ENST00000530307.1_Silent_p.I438I|SLCO5A1_ENST00000524945.1_Silent_p.I493I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	493						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I493I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCAATTTTTTTATAATGTAGC	0.408																																						uc003xyl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1477-1479)ATA>ATC		solute carrier organic anion transporter family,							80.0	81.0	80.0					8																	70617409		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70617409T>G	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1479A>C	8.37:g.70617409T>G						SLCO5A1_uc010lzb.2_Silent_p.I438I|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Silent_p.I493I|SLCO5A1_uc010lzc.2_Silent_p.I438I	p.I493I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		6	2186	-	Breast(64;0.0654)		493			Helical; Name=8; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.1479A>C	CCDS6205.1																																																																																				PASS	0.408	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		15	196	15	196	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100514011	100514011	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr8:100514011A>T	ENST00000358544.2	+	26	4078	c.3967A>T	c.(3967-3969)Agt>Tgt	p.S1323C	VPS13B_ENST00000395996.1_Missense_Mutation_p.S1323C|VPS13B_ENST00000357162.2_Missense_Mutation_p.S1323C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1323					protein transport (GO:0015031)			p.S1323C(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGACGTGTTAGTTTATGGAT	0.423																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(3967-3969)AGT>TGT		vacuolar protein sorting 13B isoform 5							169.0	166.0	167.0					8																	100514011		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100514011A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3967A>T	8.37:g.100514011A>T	ENSP00000351346:p.Ser1323Cys					VPS13B_uc003yiw.2_Missense_Mutation_p.S1323C|VPS13B_uc003yiu.1_Missense_Mutation_p.S1323C|VPS13B_uc003yix.1_Missense_Mutation_p.S793C	p.S1323C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		26	4078	+	Breast(36;3.73e-07)		1323					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3967A>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757279	0.89843	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.74106	-0.73;-0.81;-0.41	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.996;0.997	D	0.85244	0.1040	10	0.87932	D	0	.	15.385	0.74691	1.0:0.0:0.0:0.0	.	1322;1323;1323;1323	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	C	1323	ENSP00000349685:S1323C;ENSP00000351346:S1323C;ENSP00000379318:S1323C	ENSP00000349685:S1323C	S	+	1	0	VPS13B	100583187	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.988000	0.93501	2.093000	0.63338	0.455000	0.32223	AGT		PASS	0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		20	281	20	281	---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110598380	110598380	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr8:110598380C>A	ENST00000422135.1	-	5	954	c.439G>T	c.(439-441)Gat>Tat	p.D147Y	SYBU_ENST00000532779.1_Missense_Mutation_p.D79Y|SYBU_ENST00000433638.1_Missense_Mutation_p.D147Y|SYBU_ENST00000424158.2_Missense_Mutation_p.D152Y|SYBU_ENST00000419099.1_Missense_Mutation_p.D146Y|SYBU_ENST00000528647.1_Missense_Mutation_p.D146Y|SYBU_ENST00000399066.3_Missense_Mutation_p.D144Y|SYBU_ENST00000533895.1_Missense_Mutation_p.D146Y|SYBU_ENST00000533065.1_Missense_Mutation_p.D28Y|SYBU_ENST00000440310.1_Missense_Mutation_p.D147Y|SYBU_ENST00000276646.9_Missense_Mutation_p.D147Y|SYBU_ENST00000408889.3_Missense_Mutation_p.D28Y|SYBU_ENST00000528331.1_Missense_Mutation_p.D28Y|SYBU_ENST00000408908.2_Missense_Mutation_p.D147Y|SYBU_ENST00000446070.2_Missense_Mutation_p.D146Y|SYBU_ENST00000529690.1_Missense_Mutation_p.D17Y|SYBU_ENST00000533171.1_Missense_Mutation_p.D147Y	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	147	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D144Y(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GAGCTAAAATCAGCTTCACTA	0.542																																						uc003ynj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)GAT>TAT		Golgi-localized syntaphilin-related protein							53.0	53.0	53.0					8																	110598380		1973	4171	6144	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110598380C>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.439G>T	8.37:g.110598380C>A	ENSP00000407118:p.Asp147Tyr					SYBU_uc003yni.3_Missense_Mutation_p.D144Y|SYBU_uc003ynk.3_Missense_Mutation_p.D28Y|SYBU_uc010mco.2_Missense_Mutation_p.D146Y|SYBU_uc003ynl.3_Missense_Mutation_p.D146Y|SYBU_uc010mcp.2_Missense_Mutation_p.D147Y|SYBU_uc010mcq.2_Missense_Mutation_p.D147Y|SYBU_uc003yno.3_Missense_Mutation_p.D28Y|SYBU_uc010mcr.2_Missense_Mutation_p.D147Y|SYBU_uc003ynm.3_Missense_Mutation_p.D146Y|SYBU_uc003ynn.3_Missense_Mutation_p.D146Y|SYBU_uc010mcs.2_Missense_Mutation_p.D28Y|SYBU_uc010mct.2_Missense_Mutation_p.D147Y|SYBU_uc010mcu.2_Missense_Mutation_p.D146Y|SYBU_uc003ynp.3_Missense_Mutation_p.D79Y|SYBU_uc010mcv.2_Missense_Mutation_p.D147Y|SYBU_uc011lhw.1_Missense_Mutation_p.D17Y	p.D147Y	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			4	602	-			147			Sufficient for interaction with KIF5B.|Ser-rich.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.439G>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811266	0.90707	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171;ENST00000528045;ENST00000529190;ENST00000528569;ENST00000532189;ENST00000533821;ENST00000530841;ENST00000531230;ENST00000534501	.	.	.	5.75	5.75	0.90469	.	0.086345	0.85682	D	0.000000	T	0.79805	0.4509	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.961	T	0.80386	-0.1404	9	0.87932	D	0	-25.004	19.3148	0.94207	0.0:1.0:0.0:0.0	.	17;79;146;147;144	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	Y	146;152;79;144;146;28;147;146;147;146;147;147;147;28;28;17;147;28;146;28;28;146;28;28;147	.	ENSP00000276646:D147Y	D	-	1	0	SYBU	110667556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.154000	0.71826	2.885000	0.99019	0.655000	0.94253	GAT		PASS	0.542	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		3	23	3	23	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114326869	114326869	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr8:114326869G>T	ENST00000297405.5	-	2	576	c.332C>A	c.(331-333)gCt>gAt	p.A111D	CSMD3_ENST00000343508.3_Missense_Mutation_p.A71D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A111D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A111D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	111	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A71D(1)|p.A111D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTTCTAGAGCAAATGACTG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(331-333)GCT>GAT		CUB and Sushi multiple domains 3 isoform 1							156.0	148.0	151.0					8																	114326869		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114326869G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.332C>A	8.37:g.114326869G>T	ENSP00000297405:p.Ala111Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.A71D|CSMD3_uc011lhx.1_Missense_Mutation_p.A111D|CSMD3_uc010mcx.1_Missense_Mutation_p.A111D|CSMD3_uc003ynx.3_Missense_Mutation_p.A111D	p.A111D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	491	-			111			Extracellular (Potential).|CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.332C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481128	0.63849	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000011	T	0.19485	0.0468	N	0.12611	0.24	0.51012	D	0.999908	D;D;D;D;P	0.89917	0.999;1.0;1.0;0.999;0.891	D;D;D;D;P	0.91635	0.997;0.998;0.999;0.997;0.599	T	0.08827	-1.0703	10	0.07482	T	0.82	.	18.8756	0.92334	0.0:0.0:1.0:0.0	.	111;111;111;111;71	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	D	71;111;111;111	ENSP00000345799:A71D;ENSP00000297405:A111D;ENSP00000412263:A111D;ENSP00000343124:A111D	ENSP00000297405:A111D	A	-	2	0	CSMD3	114396045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.697000	0.92050	0.557000	0.71058	GCT		PASS	0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	186	5	186	---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2717996	2717996	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr9:2717996C>A	ENST00000382082.3	+	1	495	c.257C>A	c.(256-258)cCc>cAc	p.P86H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	86					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P86H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACCGCCAAGCCCGAGGGCCCC	0.657																																						uc003zho.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(256-258)CCC>CAC		potassium channel, subfamily V, member 2							84.0	59.0	67.0					9																	2717996		2203	4300	6503	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2717996C>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.257C>A	9.37:g.2717996C>A	ENSP00000371514:p.Pro86His						p.P86H	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	471	+			86			Cytoplasmic (Potential).		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.257C>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	1.194	-0.634486	0.03584	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.96745	-4.11	5.2	-0.249	0.13011	.	1.356310	0.04794	N	0.432201	D	0.88811	0.6538	N	0.08118	0	0.09310	N	1	P	0.38642	0.641	B	0.34722	0.188	D	0.83622	0.0140	10	0.72032	D	0.01	.	2.7911	0.05388	0.4636:0.286:0.1137:0.1367	.	86	Q8TDN2	KCNV2_HUMAN	H	86	ENSP00000371514:P86H	ENSP00000371514:P86H	P	+	2	0	KCNV2	2707996	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.291000	0.02775	-0.359000	0.08150	0.467000	0.42956	CCC		PASS	0.657	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		14	28	14	28	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8633316	8633316	+	Splice_Site	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr9:8633316C>T	ENST00000381196.4	-	11	896		c.e11+1		PTPRD_ENST00000463477.1_Splice_Site|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGAGCACTTACCCCGCAAAAC	0.423										TSP Lung(15;0.13)																												uc003zkk.2																			4	Unknown(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.e13+1		protein tyrosine phosphatase, receptor type, D							195.0	157.0	170.0					9																	8633316		2203	4300	6503	SO:0001630	splice_region_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633316C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.352+1G>A	9.37:g.8633316C>T		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Splice_Site_p.E118_splice|PTPRD_uc003zkq.2_Splice_Site_p.E118_splice|PTPRD_uc003zkr.2_Splice_Site_p.E118_splice|PTPRD_uc003zks.2_Splice_Site_p.E118_splice|PTPRD_uc003zkl.2_Splice_Site_p.E118_splice|PTPRD_uc003zkm.2_Splice_Site_p.E118_splice|PTPRD_uc003zkn.2_Splice_Site_p.E118_splice|PTPRD_uc003zko.2_Splice_Site_p.E118_splice|PTPRD_uc003zkt.1_Splice_Site_p.E118_splice	p.E118_splice	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	13	1063	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)						B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Splice_Site	SNP	ENST00000381196.4	37	c.352_splice	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332106	0.81801	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.599	0.99451	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRD	8623316	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.769000	0.85360	2.871000	0.98454	0.637000	0.83480	.		PASS	0.423	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Intron	28	219	28	219	---	---	---	---
ALG2	85365	broad.mit.edu	37	9	101981079	101981079	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr9:101981079G>A	ENST00000476832.1	-	2	449	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	ALG2_ENST00000319033.6_Missense_Mutation_p.R37W	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.R130W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ATCTTCTTCCGCCGTCTAGCC	0.448																																						uc004azf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(388-390)CGG>TGG		alpha-1,3-mannosyltransferase ALG2							62.0	65.0	64.0					9																	101981079		2203	4300	6503	SO:0001583	missense	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101981079G>A	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.388C>T	9.37:g.101981079G>A	ENSP00000417764:p.Arg130Trp					ALG2_uc004azg.2_Missense_Mutation_p.R37W	p.R130W	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	458	-		Acute lymphoblastic leukemia(62;0.0559)	130					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	c.388C>T	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441635	0.43326	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.80480	-1.38;-1.38	5.41	5.41	0.78517	.	0.203246	0.51477	D	0.000090	T	0.78457	0.4286	M	0.66378	2.025	0.24507	N	0.994229	B;B	0.25850	0.136;0.072	B;B	0.24269	0.05;0.052	T	0.72717	-0.4209	10	0.66056	D	0.02	-5.1898	12.5296	0.56106	0.0764:0.0:0.9236:0.0	.	37;130	Q9H553-2;Q9H553	.;ALG2_HUMAN	W	130;37	ENSP00000417764:R130W;ENSP00000326609:R37W	ENSP00000432675:R37W	R	-	1	2	ALG2	101020900	0.971000	0.33674	0.784000	0.31847	0.981000	0.71138	5.851000	0.69481	2.535000	0.85469	0.655000	0.94253	CGG		PASS	0.448	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		10	95	10	95	---	---	---	---
TAL2	6887	broad.mit.edu	37	9	108425025	108425025	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr9:108425025A>C	ENST00000334077.3	+	1	288	c.248A>C	c.(247-249)cAc>cCc	p.H83P		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	83					midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)	p.H83P(2)									CAAGGACCCCACCTGCCAGGC	0.552			T	TRB@	T-ALL																																	uc004bct.2				Dom	yes		9	9q31	6887	T	T-cell acute lymphocytic leukemia 2			L	TRB@		T-ALL		2	Substitution - Missense(2)		prostate(1)|lung(1)		0						c.(247-249)CAC>CCC		T-cell acute lymphocytic leukemia 2							51.0	51.0	51.0					9																	108425025		2203	4300	6503	SO:0001583	missense	6887				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:108425025A>C		CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.248A>C	9.37:g.108425025A>C	ENSP00000334547:p.His83Pro						p.H83P	NM_005421	NP_005412	Q16559	TAL2_HUMAN			1	288	+			83					A0AVI7	Missense_Mutation	SNP	ENST00000334077.3	37	c.248A>C	CCDS6767.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398049	0.25205	.	.	ENSG00000186051	ENST00000334077	D	0.96200	-3.94	5.44	-3.08	0.05347	Helix-loop-helix DNA-binding (1);	0.626510	0.17741	N	0.163569	D	0.89866	0.6839	L	0.47716	1.5	0.30687	N	0.751774	B	0.02656	0.0	B	0.01281	0.0	T	0.79040	-0.1966	10	0.28530	T	0.3	-5.3674	6.6179	0.22786	0.4472:0.2224:0.3304:0.0	.	83	Q16559	TAL2_HUMAN	P	83	ENSP00000334547:H83P	ENSP00000334547:H83P	H	+	2	0	TAL2	107464846	0.000000	0.05858	0.956000	0.39512	0.806000	0.45545	-0.063000	0.11655	-0.436000	0.07254	-0.291000	0.09656	CAC		PASS	0.552	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053504.1	NM_005421		9	78	9	78	---	---	---	---
GTPBP4	23560	broad.mit.edu	37	10	1043190	1043190	+	Missense_Mutation	SNP	C	C	T	rs149028639		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr10:1043190C>T	ENST00000360803.4	+	5	585	c.503C>T	c.(502-504)aCc>aTc	p.T168I	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.T52I|GTPBP4_ENST00000545048.1_Missense_Mutation_p.T121I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	168					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.T168I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GATCCGAATACCAGGACCCTG	0.373																																						uc001ift.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(502-504)ACC>ATC		G protein-binding protein CRFG							220.0	215.0	216.0					10																	1043190		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1043190C>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.503C>T	10.37:g.1043190C>T	ENSP00000354040:p.Thr168Ile					GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.T52I|GTPBP4_uc010qae.1_Missense_Mutation_p.T121I	p.T168I	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	5	574	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	168					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.503C>T	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041196	0.55003	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000360059;ENST00000545048	T;T;T;T	0.36340	2.59;1.26;2.59;2.59	5.68	3.84	0.44239	Small GTP-binding protein domain (1);	0.097287	0.64402	D	0.000001	T	0.60715	0.2290	M	0.90369	3.11	0.58432	D	0.999999	D	0.62365	0.991	P	0.61070	0.883	T	0.65483	-0.6157	10	0.52906	T	0.07	-9.5992	10.9825	0.47504	0.13:0.803:0.0:0.067	.	168	Q9BZE4	NOG1_HUMAN	I	168;52;121;121	ENSP00000354040:T168I;ENSP00000444277:T52I;ENSP00000353168:T121I;ENSP00000445473:T121I	ENSP00000353168:T121I	T	+	2	0	GTPBP4	1033190	1.000000	0.71417	0.614000	0.29051	0.008000	0.06430	5.791000	0.69045	0.772000	0.33382	-0.276000	0.10085	ACC		PASS	0.373	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		21	448	21	448	---	---	---	---
KIF5B	3799	broad.mit.edu	37	10	32322782	32322782	+	Silent	SNP	A	A	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr10:32322782A>C	ENST00000302418.4	-	12	1753	c.1296T>G	c.(1294-1296)ctT>ctG	p.L432L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	432					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.L432L(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CCTTGTCATCAAGCTGTTTGT	0.338			T	"""RET, ALK"""	NSCLC																																	uc001iwe.3				Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(1)	5						c.(1294-1296)CTT>CTG		kinesin family member 5B							165.0	159.0	161.0					10																	32322782		2203	4300	6503	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32322782A>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1296T>G	10.37:g.32322782A>C							p.L432L	NM_004521	NP_004512	P33176	KINH_HUMAN			12	1766	-		Prostate(175;0.0137)	432					A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.1296T>G	CCDS7171.1																																																																																				PASS	0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		9	107	9	107	---	---	---	---
PGBD3	267004	broad.mit.edu	37	10	50723759	50723759	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr10:50723759C>T	ENST00000374127.3	-	2	1603	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E936K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E936K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E936K|PGBD3_ENST00000508005.2_Missense_Mutation_p.E468K|ERCC6_ENST00000355832.5_Intron	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	468								p.E468K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAATGTTTTCATCAGCTCTG	0.408																																						uc001jht.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(1402-1404)GAA>AAA		hypothetical protein LOC267004							183.0	169.0	174.0					10																	50723759		2203	4300	6503	SO:0001583	missense	267004							g.chr10:50723759C>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1402G>A	10.37:g.50723759C>T	ENSP00000363242:p.Glu468Lys					ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.E936K|PGBD3_uc001jhu.2_Missense_Mutation_p.E936K	p.E468K	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	1657	-			468					B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1402G>A	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487256	0.44249	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	0.468	0.468	0.16732	.	.	.	.	.	T	0.04588	0.0125	N	0.01048	-1.04	0.09310	N	1	B;B	0.32829	0.386;0.155	B;B	0.29176	0.066;0.099	T	0.35943	-0.9768	8	0.31617	T	0.26	-9.1416	.	.	.	.	936;468	E7EV46;Q8N328	.;PGBD3_HUMAN	K	468;468;936;936	ENSP00000363242:E468K;ENSP00000426963:E468K;ENSP00000423550:E936K;ENSP00000387966:E936K	ENSP00000387966:E936K	E	-	1	0	PGBD3;RP11-123B3.6	50393765	0.001000	0.12720	0.228000	0.23943	0.208000	0.24298	-0.009000	0.12765	0.488000	0.27723	0.491000	0.48974	GAA		PASS	0.408	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			33	429	33	429	---	---	---	---
EXOC6	54536	broad.mit.edu	37	10	94659401	94659401	+	Splice_Site	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr10:94659401G>A	ENST00000260762.6	+	5	472	c.458G>A	c.(457-459)aGg>aAg	p.R153K	EXOC6_ENST00000371543.1_Missense_Mutation_p.R153K|EXOC6_ENST00000371552.4_Splice_Site_p.R148K|EXOC6_ENST00000443748.2_Splice_Site_p.R153K|EXOC6_ENST00000371547.4_Splice_Site_p.R169K	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	153					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.R148K(1)|p.R153K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGTGCCAAAAGGTGAGTTGGT	0.269																																						uc001kig.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(457-459)AGG>AAG		SEC15-like 1 isoform a							97.0	110.0	106.0					10																	94659401		2200	4300	6500	SO:0001630	splice_region_variant	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94659401G>A	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.458+1G>A	10.37:g.94659401G>A						EXOC6_uc010qnr.1_Missense_Mutation_p.R169K|EXOC6_uc001kie.2_Missense_Mutation_p.R148K|EXOC6_uc001kif.3_Missense_Mutation_p.R153K|EXOC6_uc009xub.2_Missense_Mutation_p.R153K|EXOC6_uc009xuc.2_Missense_Mutation_p.R153K	p.R153K	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN			5	524	+		Colorectal(252;0.123)	153					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.458G>A	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495869	0.64186	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000371543;ENST00000443748;ENST00000260762	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.45	4.54	0.55810	.	0.041854	0.85682	D	0.000000	T	0.25195	0.0612	L	0.39397	1.21	0.34002	D	0.650423	B;B;B;B;B	0.25563	0.129;0.001;0.011;0.004;0.004	B;B;B;B;B	0.34385	0.181;0.003;0.02;0.02;0.02	T	0.28038	-1.0056	10	0.30854	T	0.27	-9.8503	13.6172	0.62115	0.0743:0.0:0.9257:0.0	.	169;153;145;153;148	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	K	169;148;153;153;153	ENSP00000360602:R169K;ENSP00000360607:R148K;ENSP00000396206:R153K;ENSP00000260762:R153K	ENSP00000260762:R153K	R	+	2	0	EXOC6	94649381	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.618000	0.83043	2.559000	0.86315	0.650000	0.86243	AGG		PASS	0.269	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	Missense_Mutation	3	118	3	118	---	---	---	---
AS3MT	57412	broad.mit.edu	37	10	104632929	104632929	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr10:104632929C>A	ENST00000369880.3	+	5	474	c.397C>A	c.(397-399)Cat>Aat	p.H133N	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	133					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)	p.H133N(1)		large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GACTTTTATTCATGGCTACAT	0.363																																						uc001kwk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)CAT>AAT		arsenic (+3 oxidation state) methyltransferase							110.0	112.0	112.0					10																	104632929		1840	4094	5934	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104632929C>A	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.397C>A	10.37:g.104632929C>A	ENSP00000358896:p.His133Asn					AS3MT_uc001kwj.2_Missense_Mutation_p.H135N|AS3MT_uc009xxh.2_Missense_Mutation_p.H133N	p.H133N	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	5	537	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	133					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.397C>A	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506692	0.44558	.	.	ENSG00000214435	ENST00000369880	T	0.22945	1.93	5.65	4.75	0.60458	Methyltransferase type 11 (1);	0.165505	0.53938	D	0.000041	T	0.20901	0.0503	L	0.39397	1.21	0.80722	D	1	B;B;B	0.29341	0.024;0.242;0.152	B;B;B	0.29267	0.043;0.1;0.1	T	0.04840	-1.0923	10	0.54805	T	0.06	-6.7935	8.6253	0.33886	0.1507:0.7714:0.0:0.0778	.	133;133;133	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	N	133	ENSP00000358896:H133N	ENSP00000358896:H133N	H	+	1	0	AS3MT	104622919	1.000000	0.71417	0.804000	0.32291	0.832000	0.47134	2.617000	0.46385	1.389000	0.46526	0.561000	0.74099	CAT		PASS	0.363	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		4	112	4	112	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118434726	118434726	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr10:118434726G>A	ENST00000369209.3	-	12	1698	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	532						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R1153W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGCGGCGACCGGCGCACCTTG	0.662																																						uc001lct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1594-1596)CGG>TGG		heat shock 70kDa protein 12A							35.0	41.0	39.0					10																	118434726		2076	4181	6257	SO:0001583	missense	259217						ATP binding	g.chr10:118434726G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1594C>T	10.37:g.118434726G>A	ENSP00000358211:p.Arg532Trp					HSPA12A_uc001lcu.2_Missense_Mutation_p.R449W	p.R532W	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	1699	-			532						Missense_Mutation	SNP	ENST00000369209.3	37	c.1594C>T	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986946	0.53934	.	.	ENSG00000165868	ENST00000369209	T	0.51071	0.72	5.84	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.69351	0.3101	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73430	-0.3985	10	0.72032	D	0.01	.	15.1097	0.72346	0.0:0.0:0.6296:0.3704	.	532	O43301	HS12A_HUMAN	W	532	ENSP00000358211:R532W	ENSP00000358211:R532W	R	-	1	2	HSPA12A	118424716	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	5.391000	0.66266	0.348000	0.23949	-0.152000	0.13540	CGG		PASS	0.662	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		3	50	3	50	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129901609	129901609	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr10:129901609T>G	ENST00000368654.3	-	13	8870	c.8495A>C	c.(8494-8496)gAa>gCa	p.E2832A	MKI67_ENST00000368653.3_Missense_Mutation_p.E2472A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2832	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E2832A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCGGTGTCTTCTAGTTCTGG	0.488																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(8494-8496)GAA>GCA		antigen identified by monoclonal antibody Ki-67							198.0	176.0	183.0					10																	129901609		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901609T>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8495A>C	10.37:g.129901609T>G	ENSP00000357643:p.Glu2832Ala					MKI67_uc001lkf.2_Missense_Mutation_p.E2472A|MKI67_uc009yav.1_Missense_Mutation_p.E2407A|MKI67_uc009yaw.1_Missense_Mutation_p.E1982A	p.E2832A	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8690	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2832			16 X 122 AA approximate repeats.|16.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8495A>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	1.256	-0.617094	0.03663	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02032	4.49;4.49	3.16	-6.33	0.01988	.	.	.	.	.	T	0.00637	0.0021	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.22146	0.065;0.027;0.058	B;B;B	0.21917	0.037;0.02;0.033	T	0.42531	-0.9446	9	0.10111	T	0.7	.	1.2578	0.01995	0.2174:0.2443:0.0991:0.4392	.	2831;2472;2832	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	2832;2472;2831	ENSP00000357643:E2832A;ENSP00000357642:E2472A	ENSP00000357642:E2472A	E	-	2	0	MKI67	129791599	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.598000	0.00419	-2.359000	0.00611	-1.019000	0.02448	GAA		PASS	0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		31	265	31	265	---	---	---	---
CDHR5	53841	broad.mit.edu	37	11	618689	618689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:618689G>A	ENST00000358353.3	-	14	2192	c.1870C>T	c.(1870-1872)Caa>Taa	p.Q624*	IRF7_ENST00000397566.1_5'Flank|CDHR5_ENST00000397542.2_Nonsense_Mutation_p.Q624*|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	624	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)	p.Q624*(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTGGTTGGTTGGTGGGAGGTG	0.657																																						uc001lqj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1870-1872)CAA>TAA		mucin and cadherin-like isoform 1							137.0	139.0	139.0					11																	618689		2203	4300	6503	SO:0001587	stop_gained	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618689G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1870C>T	11.37:g.618689G>A	ENSP00000351118:p.Gln624*					IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Nonsense_Mutation_p.Q458*|CDHR5_uc009ycd.2_Nonsense_Mutation_p.Q618*|CDHR5_uc001lql.2_Nonsense_Mutation_p.Q624*	p.Q624*	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			13	1975	-			624			4 X 31 AA approximate tandem repeats.|3.|Extracellular (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Nonsense_Mutation	SNP	ENST00000358353.3	37	c.1870C>T	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	N	33	5.195466	0.94960	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	.	.	.	2.65	0.57	0.17347	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	3.0893	0.06289	0.1573:0.0:0.581:0.2617	.	.	.	.	X	624	.	ENSP00000351118:Q624X	Q	-	1	0	CDHR5	608689	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.104000	0.01340	0.018000	0.15052	0.400000	0.26472	CAA		PASS	0.657	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		9	128	9	128	---	---	---	---
KRTAP5-6	440023	broad.mit.edu	37	11	1718724	1718724	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:1718724T>A	ENST00000382160.1	+	1	300	c.249T>A	c.(247-249)tgT>tgA	p.C83*		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	83	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.C83*(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTGGCTCTTGTGGCTGCTCCC	0.642																																						uc001lua.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(247-249)TGT>TGA		keratin associated protein 5-6							81.0	103.0	96.0					11																	1718724		2202	4299	6501	SO:0001587	stop_gained	440023					keratin filament		g.chr11:1718724T>A	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.249T>A	11.37:g.1718724T>A	ENSP00000371595:p.Cys83*						p.C83*	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	300	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	83			6 X 4 AA repeats of C-C-X-P.		A1L452	Nonsense_Mutation	SNP	ENST00000382160.1	37	c.249T>A	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	t	8.977	0.974314	0.18736	.	.	ENSG00000205864	ENST00000382160	.	.	.	3.29	-2.23	0.06930	.	.	.	.	.	.	.	.	.	.	.	0.39425	D	0.966981	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	7.4273	0.27107	0.0:0.5087:0.0:0.4913	.	.	.	.	X	83	.	ENSP00000371595:C83X	C	+	3	2	KRTAP5-6	1675300	0.193000	0.23313	0.005000	0.12908	0.056000	0.15407	-0.274000	0.08537	-0.443000	0.07180	0.138000	0.15974	TGT		PASS	0.642	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			13	89	13	89	---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5537287	5537287	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:5537287T>C	ENST00000380184.1	-	1	648	c.385A>G	c.(385-387)Aaa>Gaa	p.K129E	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	129								p.K129E(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTGTTTCCTTTGGTGTTTCTG	0.537																																						uc001maz.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(385-387)AAA>GAA		ubiquilin-like							217.0	212.0	214.0					11																	5537287		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537287T>C	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.385A>G	11.37:g.5537287T>C	ENSP00000369531:p.Lys129Glu					HBG2_uc001mak.1_Intron	p.K129E	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	670	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	129					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.385A>G	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.561265	0.00910	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.46451	0.87	4.87	1.3	0.21679	.	0.469435	0.17884	N	0.158756	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.26780	-1.0093	10	0.09338	T	0.73	-11.9453	6.5537	0.22448	0.0:0.2886:0.0:0.7114	.	129	Q8IYU4	UBQLN_HUMAN	E	129	ENSP00000369531:K129E	ENSP00000369531:K129E	K	-	1	0	UBQLNL	5493863	0.004000	0.15560	0.307000	0.25127	0.316000	0.28119	-0.250000	0.08830	0.043000	0.15746	-0.274000	0.10170	AAA		PASS	0.537	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		21	148	21	148	---	---	---	---
OR52N1	79473	broad.mit.edu	37	11	5809595	5809595	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:5809595A>C	ENST00000317078.1	-	1	451	c.452T>G	c.(451-453)tTt>tGt	p.F151C	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F151C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACCCCTAAGAAAAGTGAGGAA	0.517																																						uc010qzo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(451-453)TTT>TGT		olfactory receptor, family 52, subfamily N,							122.0	105.0	111.0					11																	5809595		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809595A>C	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.452T>G	11.37:g.5809595A>C	ENSP00000322823:p.Phe151Cys					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.F151C	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	452	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	151			Helical; Name=4; (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.452T>G	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565672	0.27915	.	.	ENSG00000181001	ENST00000317078	T	0.37752	1.18	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.124614	0.35838	N	0.002948	T	0.57725	0.2073	M	0.70108	2.13	0.25984	N	0.98234	D	0.76494	0.999	D	0.76071	0.987	T	0.53528	-0.8426	10	0.72032	D	0.01	.	13.2255	0.59912	1.0:0.0:0.0:0.0	.	151	Q8NH53	O52N1_HUMAN	C	151	ENSP00000322823:F151C	ENSP00000322823:F151C	F	-	2	0	OR52N1	5766171	0.014000	0.17966	0.080000	0.20451	0.054000	0.15201	2.802000	0.47916	2.044000	0.60594	0.496000	0.49642	TTT		PASS	0.517	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		24	103	24	103	---	---	---	---
SYT7	9066	broad.mit.edu	37	11	61295405	61295405	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:61295405C>T	ENST00000263846.4	-	5	931	c.604G>A	c.(604-606)Gag>Aag	p.E202K	SYT7_ENST00000540677.1_Missense_Mutation_p.E277K|SYT7_ENST00000539008.1_Missense_Mutation_p.E485K|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Missense_Mutation_p.E321K|SYT7_ENST00000542836.1_Missense_Mutation_p.E246K|SYT7_ENST00000542670.1_Missense_Mutation_p.E410K	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	202	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.E202K(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAAGGTCTCGTTCCAGTGG	0.577																																						uc001nrv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(604-606)GAG>AAG		synaptotagmin VII							111.0	103.0	105.0					11																	61295405		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61295405C>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.604G>A	11.37:g.61295405C>T	ENSP00000263846:p.Glu202Lys					SYT7_uc009ynr.2_Missense_Mutation_p.E277K	p.E202K	NM_004200	NP_004191	O43581	SYT7_HUMAN			5	610	-			202			C2 1.|Cytoplasmic (Potential).		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.604G>A	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296144	0.95574	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.993;0.997	T	0.65651	-0.6116	10	0.87932	D	0	.	17.949	0.89046	0.0:1.0:0.0:0.0	.	277;202	F5GZU9;O43581	.;SYT7_HUMAN	K	202;277;485;246;410;321	ENSP00000263846:E202K;ENSP00000444201:E277K;ENSP00000439694:E485K;ENSP00000444568:E246K;ENSP00000444019:E410K;ENSP00000437720:E321K	ENSP00000263846:E202K	E	-	1	0	SYT7	61051981	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.776000	0.85560	2.420000	0.82092	0.561000	0.74099	GAG		PASS	0.577	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		16	161	16	161	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64525759	64525759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:64525759C>A	ENST00000164139.3	-	4	885	c.487G>T	c.(487-489)Gag>Tag	p.E163*	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	163					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.E163*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCCCAAACTCATAGCGAATC	0.592																																						uc001oax.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(487-489)GAG>TAG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						102.0	117.0	112.0					11																	64525759		2201	4297	6498	SO:0001587	stop_gained	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64525759C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.487G>T	11.37:g.64525759C>A	ENSP00000164139:p.Glu163*					PYGM_uc001oay.3_Intron	p.E163*	NM_005609	NP_005600	P11217	PYGM_HUMAN			4	1304	-			163					A0AVK1|A6NDY6	Nonsense_Mutation	SNP	ENST00000164139.3	37	c.487G>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	41	8.983093	0.99025	.	.	ENSG00000068976	ENST00000164139;ENST00000540450	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-37.9461	17.0275	0.86452	0.0:1.0:0.0:0.0	.	.	.	.	X	163;144	.	.	E	-	1	0	PYGM	64282335	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.800000	0.85949	2.631000	0.89168	0.462000	0.41574	GAG		PASS	0.592	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		8	172	8	172	---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70007820	70007820	+	Missense_Mutation	SNP	G	G	A	rs375666290		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:70007820G>A	ENST00000355303.5	+	18	2178	c.1873G>A	c.(1873-1875)Gtg>Atg	p.V625M	ANO1_ENST00000530676.1_Missense_Mutation_p.V479M|ANO1_ENST00000398543.2_Missense_Mutation_p.V479M|ANO1_ENST00000531349.1_Missense_Mutation_p.V334M|ANO1_ENST00000538023.1_Missense_Mutation_p.V625M|ANO1_ENST00000316296.5_Missense_Mutation_p.V567M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	625					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.V625M(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CATCTTTTACGTGGCGTTCTT	0.552																																						uc001opj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1873-1875)GTG>ATG		anoctamin 1, calcium activated chloride channel		G	MET/VAL	1,3871		0,1,1935	178.0	182.0	181.0		1873	4.8	1.0	11		181	0,8292		0,0,4146	no	missense	ANO1	NM_018043.5	21	0,1,6081	AA,AG,GG		0.0,0.0258,0.0082	probably-damaging	625/987	70007820	1,12163	1936	4146	6082	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007820G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1873G>A	11.37:g.70007820G>A	ENSP00000347454:p.Val625Met					ANO1_uc001opk.1_Missense_Mutation_p.V567M|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.V334M	p.V625M	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			18	2178	+			625			Helical; (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1873G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267033	0.59540	2.58E-4	0.0	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.82	4.82	0.62117	.	0.383998	0.25439	N	0.030665	T	0.79387	0.4437	M	0.78916	2.43	0.44261	D	0.997111	D;D;D	0.71674	0.998;0.96;0.983	D;P;D	0.69824	0.966;0.592;0.941	T	0.80892	-0.1179	9	.	.	.	.	17.9228	0.88972	0.0:0.0:1.0:0.0	.	334;567;625	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	M	625;625;479;383;567;479;334	ENSP00000347454:V625M;ENSP00000444689:V625M;ENSP00000381551:V479M;ENSP00000319477:V567M;ENSP00000435797:V479M;ENSP00000432843:V334M	.	V	+	1	0	ANO1	69685468	0.988000	0.35896	1.000000	0.80357	0.994000	0.84299	1.642000	0.37207	2.226000	0.72624	0.561000	0.74099	GTG		PASS	0.552	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		8	408	8	408	---	---	---	---
ATG16L2	89849	broad.mit.edu	37	11	72528819	72528819	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:72528819C>A	ENST00000321297.5	+	3	375	c.237C>A	c.(235-237)gaC>gaA	p.D79E	ATG16L2_ENST00000451353.2_3'UTR|ATG16L2_ENST00000534905.1_Missense_Mutation_p.D79E	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	79					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D79E(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CAGAGCTTGACTCAGACCAAG	0.577																																						uc001otd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GAC>GAA		ATG16 autophagy related 16-like 2							95.0	77.0	83.0					11																	72528819		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72528819C>A	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.237C>A	11.37:g.72528819C>A	ENSP00000326340:p.Asp79Glu					ATG16L2_uc001otc.1_Missense_Mutation_p.D79E|ATG16L2_uc010rrf.1_Missense_Mutation_p.D79E|ATG16L2_uc001ote.2_5'UTR|ATG16L2_uc009ytj.1_Missense_Mutation_p.D79E	p.D79E	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		3	277	+			79					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.237C>A	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.81|11.81	1.749084|1.749084	0.30955|0.30955	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000321297;ENST00000534905|ENST00000540567	T|.	0.52057|.	0.68|.	3.63|3.63	0.64|0.64	0.17752|0.17752	Autophagy-related protein 16 (1);|.	.|.	.|.	.|.	.|.	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.16603|.	0.011;0.018;0.002;0.002|.	B;B;B;B|.	0.17722|.	0.01;0.019;0.005;0.012|.	T|T	0.23404|0.23404	-1.0189|-1.0189	9|5	0.13853|.	T|.	0.58|.	.|.	3.3089|3.3089	0.07010|0.07010	0.2026:0.5717:0.0:0.2257|0.2026:0.5717:0.0:0.2257	.|.	79;79;79;78|.	B4E090;F5GWZ9;Q8NAA4;Q2VPK0|.	.;.;A16L2_HUMAN;.|.	E|N	79|84	ENSP00000326340:D79E|.	ENSP00000326340:D79E|.	D|T	+|+	3|2	2|0	ATG16L2|ATG16L2	72206467|72206467	0.021000|0.021000	0.18746|0.18746	0.035000|0.035000	0.18076|0.18076	0.397000|0.397000	0.30659|0.30659	-0.124000|-0.124000	0.10595|0.10595	0.160000|0.160000	0.19432|0.19432	0.491000|0.491000	0.48974|0.48974	GAC|ACT		PASS	0.577	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		3	50	3	50	---	---	---	---
PICALM	8301	broad.mit.edu	37	11	85692224	85692224	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:85692224G>T	ENST00000393346.3	-	17	1875	c.1727C>A	c.(1726-1728)tCt>tAt	p.S576Y	PICALM_ENST00000532317.1_Missense_Mutation_p.S526Y|PICALM_ENST00000526033.1_Missense_Mutation_p.S569Y|PICALM_ENST00000356360.5_Missense_Mutation_p.S576Y|PICALM_ENST00000528398.1_Missense_Mutation_p.S475Y			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	576					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)	p.S576Y(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTGCCAGTTAGATCCCCCAGT	0.353			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	uc001pbm.2				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	MLLT10|MLL		TALL|AML|		1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|ovary(1)	2						c.(1726-1728)TCT>TAT		phosphatidylinositol-binding clathrin assembly							154.0	146.0	148.0					11																	85692224		2203	4299	6502	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85692224G>T	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1727C>A	11.37:g.85692224G>T	ENSP00000377015:p.Ser576Tyr					PICALM_uc001pbl.2_Missense_Mutation_p.S526Y|PICALM_uc001pbn.2_Missense_Mutation_p.S569Y|PICALM_uc010rtl.1_Missense_Mutation_p.S475Y|PICALM_uc001pbk.2_RNA|PICALM_uc010rtk.1_Missense_Mutation_p.S153Y|PICALM_uc001pbo.1_Missense_Mutation_p.S208Y	p.S576Y	NM_007166	NP_009097	Q13492	PICAL_HUMAN			17	2013	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	576					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.1727C>A	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.044384|3.044384	0.55110|0.55110	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000530692;ENST00000529016|ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.|T;T;T;T;T	.|0.33438	.|1.41;1.41;1.41;1.41;1.41	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.177050	.|0.50627	.|D	.|0.000104	T|T	0.33000|0.33000	0.0848|0.0848	N|N	0.14661|0.14661	0.345|0.345	0.41138|0.41138	D|D	0.985937|0.985937	.|B;D;B;B;B;B	.|0.56035	.|0.0;0.974;0.0;0.0;0.0;0.001	.|B;P;B;B;B;B	.|0.54312	.|0.0;0.748;0.001;0.002;0.001;0.004	T|T	0.05599|0.05599	-1.0875|-1.0875	5|9	.|.	.|.	.|.	-8.7365|-8.7365	19.7747|19.7747	0.96386|0.96386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|475;153;576;569;576;526	.|E9PN05;B4DLM1;A8MX97;F8VPG7;Q13492;Q13492-3	.|.;.;.;.;PICAL_HUMAN;.	I|Y	105;223|526;569;576;576;475;576	.|ENSP00000436958:S526Y;ENSP00000433846:S569Y;ENSP00000377015:S576Y;ENSP00000434884:S475Y;ENSP00000348718:S576Y	.|.	L|S	-|-	1|2	2|0	PICALM|PICALM	85369872|85369872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.558000|7.558000	0.82253|0.82253	2.750000|2.750000	0.94351|0.94351	0.585000|0.585000	0.79938|0.79938	CTA|TCT		PASS	0.353	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		7	203	7	203	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92714914	92714914	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr11:92714914C>A	ENST00000257068.2	+	2	531	c.525C>A	c.(523-525)aaC>aaA	p.N175K		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	175					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.N175K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGCTGCCCAACTTCTTTGTGG	0.612																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(523-525)AAC>AAA		melatonin receptor 1B	Ramelteon(DB00980)						104.0	103.0	103.0					11																	92714914		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714914C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.525C>A	11.37:g.92714914C>A	ENSP00000257068:p.Asn175Lys						p.N175K	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	628	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	175			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.525C>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693275	0.48202	.	.	ENSG00000134640	ENST00000257068	T	0.37235	1.21	3.97	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.89353	3.025	0.47476	D	0.999433	D	0.69078	0.997	D	0.78314	0.991	T	0.56335	-0.7996	10	0.29301	T	0.29	-17.1435	5.9694	0.19342	0.0:0.6273:0.0:0.3727	.	175	P49286	MTR1B_HUMAN	K	175	ENSP00000257068:N175K	ENSP00000257068:N175K	N	+	3	2	MTNR1B	92354562	0.991000	0.36638	0.997000	0.53966	0.626000	0.37791	0.208000	0.17415	0.993000	0.38866	0.491000	0.48974	AAC		PASS	0.612	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			4	89	4	89	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2778165	2778165	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr12:2778165G>T	ENST00000347598.4	+	40	4834	c.4834G>T	c.(4834-4836)Gcc>Tcc	p.A1612S	CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1553S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1584S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1586S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1551S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1564S|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1553S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1589S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1592S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1581S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1612					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1586S(1)|p.A1642S(1)|p.A1612S(1)|p.A1564S(1)|p.A1099S(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCCTGTTTGCCCTGGTCAG	0.562																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(4834-4836)GCC>TCC		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						129.0	133.0	132.0					12																	2778165		2187	4298	6485	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2778165G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4834G>T	12.37:g.2778165G>T	ENSP00000266376:p.Ala1612Ser					CACNA1C_uc009zdv.1_Missense_Mutation_p.A1561S|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkc.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qke.2_Missense_Mutation_p.A1553S|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1553S|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1551S|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1586S|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1553S|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1612S|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qko.2_Missense_Mutation_p.A1584S|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1581S|CACNA1C_uc001qku.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1592S|CACNA1C_uc001qks.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1564S|CACNA1C_uc001qki.1_Missense_Mutation_p.A1300S|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1300S|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1300S|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1289S|CACNA1C_uc010sea.1_Missense_Mutation_p.A255S	p.A1612S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	40	5147	+			1612			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4834G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862296	0.91511	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98135	-4.42;-4.39;-4.39;-4.38;-4.39;-4.73;-4.6;-4.61;-4.39;-4.32;-4.33;-4.39;-4.73;-4.3;-4.25;-4.73;-4.72;-4.39;-4.42;-4.36;-4.43;-4.74	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.98804	0.9597	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D;P;D;D;D;D;P;D;D;D;D;D;D;D;P;D;D;D;D	0.76494	0.974;0.996;0.999;0.995;0.998;0.999;0.999;0.867;0.997;0.978;0.999;0.999;0.939;0.998;0.997;0.997;0.996;0.999;0.999;0.994;0.907;0.999;0.999;0.999;0.999	P;D;D;P;D;D;D;P;D;D;D;D;P;D;D;D;D;D;D;P;B;D;D;D;D	0.87578	0.829;0.985;0.996;0.831;0.994;0.997;0.996;0.54;0.919;0.955;0.997;0.995;0.721;0.998;0.985;0.995;0.987;0.919;0.997;0.858;0.364;0.997;0.997;0.997;0.996	D	0.99568	1.0970	10	0.72032	D	0.01	.	16.4036	0.83650	0.0:0.0:1.0:0.0	.	255;1586;1561;1612;1564;1564;1564;1581;1592;1564;1584;1564;1524;1612;1564;1564;1564;1553;1551;1553;1553;1564;1564;1564;1564	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1589;1564;1564;1592;1564;1564;1564;1553;1564;1612;1584;1564;1586;1581;1564;1551;1564;1564;1564;1564;1564;1553;1394	ENSP00000336982:A1589S;ENSP00000382563:A1564S;ENSP00000382552:A1564S;ENSP00000382547:A1592S;ENSP00000382506:A1564S;ENSP00000382530:A1564S;ENSP00000382546:A1564S;ENSP00000382500:A1553S;ENSP00000382549:A1564S;ENSP00000266376:A1612S;ENSP00000382515:A1584S;ENSP00000382510:A1564S;ENSP00000341092:A1586S;ENSP00000382537:A1581S;ENSP00000329877:A1564S;ENSP00000382557:A1551S;ENSP00000385724:A1564S;ENSP00000382512:A1564S;ENSP00000382542:A1564S;ENSP00000382526:A1564S;ENSP00000385896:A1564S;ENSP00000382504:A1553S	ENSP00000323129:A1394S	A	+	1	0	CACNA1C	2648426	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.601000	0.98297	2.152000	0.67230	0.563000	0.77884	GCC		PASS	0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		9	113	9	113	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52913973	52913973	+	Silent	SNP	G	G	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr12:52913973G>C	ENST00000252242.4	-	1	498	c.108C>G	c.(106-108)tcC>tcG	p.S36S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	36	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.S36S(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCGGACCGGGACACGGAGG	0.677																																						uc001san.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(106-108)TCC>TCG		keratin 5							30.0	40.0	37.0					12																	52913973		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913973G>C		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.108C>G	12.37:g.52913973G>C						KRT5_uc009zmh.2_Silent_p.S36S	p.S36S	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	271	-			36			Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.108C>G	CCDS8830.1																																																																																				PASS	0.677	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			4	48	4	48	---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95645743	95645743	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr12:95645743G>T	ENST00000436874.1	+	2	169	c.64G>T	c.(64-66)Gat>Tat	p.D22Y	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	22					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.D22Y(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ATACTTACAGGATCTGGGACA	0.368																																						uc001tdz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(64-66)GAT>TAT		vezatin, adherens junctions transmembrane							136.0	132.0	133.0					12																	95645743		1845	4084	5929	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95645743G>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.64G>T	12.37:g.95645743G>T	ENSP00000410083:p.Asp22Tyr					VEZT_uc009zsy.1_5'UTR|VEZT_uc001tdr.2_5'UTR|VEZT_uc001tds.2_5'UTR|VEZT_uc001tdt.2_5'UTR|VEZT_uc009zsz.1_Missense_Mutation_p.D22Y|VEZT_uc001tdv.2_5'UTR|VEZT_uc001tdw.1_5'UTR|VEZT_uc009zta.1_5'UTR	p.D22Y	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			2	169	+			22					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.64G>T	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240969	0.79912	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000552821;ENST00000397796	T;T;T	0.68903	1.19;-0.08;-0.36	5.76	5.76	0.90799	.	0.000000	0.85682	U	0.000000	T	0.81716	0.4881	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.82920	-0.0218	10	0.87932	D	0	-33.4327	17.7301	0.88375	0.0:0.0:1.0:0.0	.	22;22	C9J154;Q9HBM0	.;VEZA_HUMAN	Y	22;22;41;13;22	ENSP00000410083:D22Y;ENSP00000449591:D22Y;ENSP00000449701:D41Y	ENSP00000380898:D22Y	D	+	1	0	VEZT	94169874	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.202000	0.77856	2.721000	0.93114	0.655000	0.94253	GAT		PASS	0.368	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		5	164	5	164	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100452092	100452092	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr12:100452092C>G	ENST00000279907.7	-	14	3175	c.2963G>C	c.(2962-2964)gGc>gCc	p.G988A	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.G638A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	988								p.G988A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCTCCTGAGCCACTTTTGTA	0.308																																						uc001tgq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2962-2964)GGC>GCC		UHRF1 (ICBP90) binding protein 1-like isoform a							63.0	70.0	67.0					12																	100452092		2201	4289	6490	SO:0001583	missense	23074							g.chr12:100452092C>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2963G>C	12.37:g.100452092C>G	ENSP00000279907:p.Gly988Ala					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.G638A	p.G988A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	3192	-			988					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2963G>C	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.581813	0.00879	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.09630	2.97;2.96	5.87	2.06	0.26882	.	0.754367	0.13286	N	0.399440	T	0.05181	0.0138	N	0.24115	0.695	0.53005	D	0.999963	B	0.06786	0.001	B	0.06405	0.002	T	0.35375	-0.9791	10	0.02654	T	1	2.4645	4.2835	0.10844	0.1484:0.4382:0.0:0.4134	.	988	A0JNW5	UH1BL_HUMAN	A	988;638	ENSP00000279907:G988A;ENSP00000444824:G638A	ENSP00000279907:G988A	G	-	2	0	UHRF1BP1L	98976223	0.089000	0.21612	0.654000	0.29608	0.958000	0.62258	0.210000	0.17455	0.109000	0.17891	0.650000	0.86243	GGC		PASS	0.308	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		22	186	22	186	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124209287	124209287	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr12:124209287G>T	ENST00000330342.3	+	4	629	c.381G>T	c.(379-381)gaG>gaT	p.E127D		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	127					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.E127D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AACTGATAGAGTACACTCACA	0.408																																						uc001ufr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(379-381)GAG>GAT		ATPase, H+ transporting, lysosomal V0 subunit							154.0	152.0	152.0					12																	124209287		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124209287G>T	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.381G>T	12.37:g.124209287G>T	ENSP00000332247:p.Glu127Asp					ATP6V0A2_uc001ufq.1_Missense_Mutation_p.E127D	p.E127D	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	4	629	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		127			Cytoplasmic (Potential).		A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.381G>T	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689415	0.88735	.	.	ENSG00000185344	ENST00000330342;ENST00000541854	D	0.88509	-2.39	5.7	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.96034	0.8708	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	D	0.96575	0.9426	10	0.66056	D	0.02	-29.6545	13.7665	0.62999	0.0741:0.0:0.9259:0.0	.	127;127	Q9Y487;Q8TBM3	VPP2_HUMAN;.	D	127	ENSP00000332247:E127D	ENSP00000332247:E127D	E	+	3	2	ATP6V0A2	122775240	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.479000	0.53165	2.692000	0.91855	0.591000	0.81541	GAG		PASS	0.408	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		47	268	47	268	---	---	---	---
GLT1D1	144423	broad.mit.edu	37	12	129360565	129360565	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr12:129360565G>T	ENST00000442111.2	+	2	263	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S	GLT1D1_ENST00000537468.1_Missense_Mutation_p.A48S|GLT1D1_ENST00000281703.6_Missense_Mutation_p.A59S|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	59					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A59S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTGCGAGGCTGCCCTGGCTCT	0.473																																						uc010tbh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)GCC>TCC		glycosyltransferase 1 domain containing 1							148.0	152.0	151.0					12																	129360565		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360565G>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.175G>T	12.37:g.129360565G>T	ENSP00000394692:p.Ala59Ser					GLT1D1_uc001uhx.1_Missense_Mutation_p.A59S|GLT1D1_uc001uhy.1_RNA	p.A48S	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	151	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		59					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.142G>T		.	.	.	.	.	.	.	.	.	.	G	16.20	3.055583	0.55325	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.79247	-1.25;0.81;0.75	5.54	5.54	0.83059	.	0.055754	0.64402	D	0.000001	D	0.82435	0.5036	M	0.73962	2.25	0.80722	D	1	P;P	0.52061	0.95;0.911	P;P	0.48189	0.57;0.475	D	0.85125	0.0971	10	0.72032	D	0.01	-26.0947	17.2721	0.87105	0.0:0.0:1.0:0.0	.	48;59	F5H088;Q96MS3-2	.;.	S	59;59;48	ENSP00000394692:A59S;ENSP00000281703:A59S;ENSP00000438158:A48S	ENSP00000281703:A59S	A	+	1	0	GLT1D1	127926518	0.979000	0.34478	0.283000	0.24790	0.288000	0.27193	5.731000	0.68554	2.583000	0.87209	0.655000	0.94253	GCC		PASS	0.473	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		70	312	70	312	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35864575	35864575	+	Silent	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr13:35864575G>T	ENST00000400445.3	+	35	6360	c.5826G>T	c.(5824-5826)ctG>ctT	p.L1942L	NBEA_ENST00000540320.1_Silent_p.L1942L|NBEA_ENST00000310336.4_Silent_p.L1942L|NBEA_ENST00000379939.2_Silent_p.L1939L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1942					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.L1942L(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGTTATGCTGCTTTGTTCTC	0.323																																						uc001uvb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(5824-5826)CTG>CTT		neurobeachin							287.0	270.0	275.0					13																	35864575		1858	4094	5952	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35864575G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5826G>T	13.37:g.35864575G>T						NBEA_uc010abi.2_Silent_p.L598L	p.L1942L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	35	6032	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1942					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.5826G>T	CCDS45026.1																																																																																				PASS	0.323	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		41	291	41	291	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46559779	46559779	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr13:46559779C>T	ENST00000242848.4	-	10	1721	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R458Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	458	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R458Q(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGCATCTCTCCGATCCCGACC	0.483																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1372-1374)CGG>CAG		zinc finger CCCH-type containing 13							208.0	194.0	199.0					13																	46559779		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559779C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1373G>A	13.37:g.46559779C>T	ENSP00000242848:p.Arg458Gln					ZC3H13_uc001vas.1_Missense_Mutation_p.R458Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R458Q	p.R458Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1379	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	458			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1373G>A		.	.	.	.	.	.	.	.	.	.	C	18.09	3.546010	0.65198	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.32272	2.46;1.46	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000037	T	0.47746	0.1462	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.15037	-1.0451	10	0.28530	T	0.3	.	19.8917	0.96932	0.0:1.0:0.0:0.0	.	458;458	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	458;458;274	ENSP00000242848:R458Q;ENSP00000282007:R458Q	ENSP00000242848:R458Q	R	-	2	0	ZC3H13	45457780	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.114000	0.71560	2.705000	0.92388	0.591000	0.81541	CGG		PASS	0.483	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		29	377	29	377	---	---	---	---
KPNA3	3839	broad.mit.edu	37	13	50306891	50306891	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr13:50306891T>C	ENST00000261667.3	-	4	640	c.226A>G	c.(226-228)Ata>Gta	p.I76V		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	76					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.I76V(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACCTGCAATATAGCTTCTAGG	0.244																																						uc001vdj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)ATA>GTA		karyopherin alpha 3							28.0	31.0	30.0					13																	50306891		2179	4292	6471	SO:0001583	missense	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50306891T>C	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.226A>G	13.37:g.50306891T>C	ENSP00000261667:p.Ile76Val						p.I76V	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	4	641	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	76			ARM 1; truncated.		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	ENST00000261667.3	37	c.226A>G	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965881	0.53507	.	.	ENSG00000102753	ENST00000261667	T	0.31510	1.49	5.77	5.77	0.91146	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.083199	0.85682	D	0.000000	T	0.36331	0.0963	L	0.58583	1.82	0.80722	D	1	B	0.23891	0.093	B	0.30716	0.119	T	0.11299	-1.0593	10	0.45353	T	0.12	-15.188	16.0836	0.81023	0.0:0.0:0.0:1.0	.	76	O00505	IMA3_HUMAN	V	76	ENSP00000261667:I76V	ENSP00000261667:I76V	I	-	1	0	KPNA3	49204892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.796000	0.85898	2.196000	0.70406	0.528000	0.53228	ATA		PASS	0.244	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267		10	80	10	80	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208468	58208468	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr13:58208468G>T	ENST00000377918.3	+	1	1814	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	596	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q596H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGAGCTGCAGGTGCCGCGCA	0.647																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1786-1788)CAG>CAT		protocadherin 17 precursor							31.0	30.0	31.0					13																	58208468		2202	4299	6501	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208468G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1788G>T	13.37:g.58208468G>T	ENSP00000367151:p.Gln596His					PCDH17_uc010aec.1_Missense_Mutation_p.Q596H	p.Q596H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2680	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	596			Extracellular (Potential).|Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1788G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	2.542	-0.306034	0.05458	.	.	ENSG00000118946	ENST00000377918	T	0.52754	0.65	5.36	5.36	0.76844	Cadherin (3);Cadherin-like (1);	0.050671	0.85682	D	0.000000	T	0.30355	0.0762	N	0.13371	0.34	0.33981	D	0.64794	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.33650	-0.9860	9	.	.	.	.	13.9886	0.64350	0.0:0.0:0.8486:0.1514	.	596;596	O14917-2;O14917	.;PCD17_HUMAN	H	596	ENSP00000367151:Q596H	.	Q	+	3	2	PCDH17	57106469	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.868000	0.27982	2.500000	0.84329	0.561000	0.74099	CAG		PASS	0.647	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		15	48	15	48	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70514196	70514196	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr13:70514196C>A	ENST00000377844.4	-	4	1749	c.990G>T	c.(988-990)atG>atT	p.M330I	KLHL1_ENST00000545028.1_Missense_Mutation_p.M137I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	330					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.M330I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGGCCACCTTCATTAACTCAA	0.413																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(988-990)ATG>ATT		kelch-like 1 protein							78.0	71.0	73.0					13																	70514196		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70514196C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.990G>T	13.37:g.70514196C>A	ENSP00000367075:p.Met330Ile					KLHL1_uc010thm.1_Missense_Mutation_p.M269I	p.M330I	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	4	1784	-		Breast(118;0.000162)	330					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.990G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729857	0.48833	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.68479	-0.33;-0.33	5.67	5.67	0.87782	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	L	0.28192	0.835	0.32279	N	0.567793	B;B	0.15473	0.004;0.013	B;B	0.21708	0.03;0.036	T	0.62765	-0.6785	10	0.56958	D	0.05	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	330;330	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	330;137	ENSP00000367075:M330I;ENSP00000439602:M137I	ENSP00000367075:M330I	M	-	3	0	KLHL1	69412197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.580000	0.46068	2.671000	0.90904	0.557000	0.71058	ATG		PASS	0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		6	92	6	92	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77760189	77760189	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr13:77760189C>G	ENST00000544440.2	-	31	4164	c.4147G>C	c.(4147-4149)Gag>Cag	p.E1383Q	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E1421Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1383Q					MYC binding protein 2, E3 ubiquitin protein ligase									p.E1383Q(2)|p.E1421Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACAATGACTCAAAACATTCC	0.363																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(4147-4149)GAG>CAG		MYC binding protein 2							61.0	60.0	60.0					13																	77760189		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77760189C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4147G>C	13.37:g.77760189C>G	ENSP00000444596:p.Glu1383Gln					MYCBP2_uc010aev.2_Missense_Mutation_p.E787Q	p.E1383Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	32	4238	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1383						Missense_Mutation	SNP	ENST00000544440.2	37	c.4147G>C		.	.	.	.	.	.	.	.	.	.	C	18.80	3.701049	0.68501	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29655	1.56;1.56;1.56	5.48	5.48	0.80851	.	0.131424	0.49916	D	0.000121	T	0.27594	0.0678	L	0.34521	1.04	0.58432	D	0.999999	P	0.35155	0.487	B	0.32465	0.146	T	0.03587	-1.1022	10	0.45353	T	0.12	.	19.3354	0.94316	0.0:1.0:0.0:0.0	.	1383	O75592	MYCB2_HUMAN	Q	1383;1421;1383	ENSP00000349892:E1383Q;ENSP00000384288:E1421Q;ENSP00000444596:E1383Q	ENSP00000349892:E1383Q	E	-	1	0	MYCBP2	76658190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.581000	0.87130	0.561000	0.74099	GAG		PASS	0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		8	93	8	93	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110864803	110864803	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr13:110864803C>T	ENST00000375820.4	-	6	469	c.348G>A	c.(346-348)ccG>ccA	p.P116P	COL4A1_ENST00000543140.1_Silent_p.P116P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	116					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P116P(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGGGCCTGGCGGGCCGTCTT	0.453																																						uc001vqw.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(346-348)CCG>CCA		alpha 1 type IV collagen preproprotein							122.0	145.0	137.0					13																	110864803		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110864803C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.348G>A	13.37:g.110864803C>T						COL4A1_uc010agl.2_Silent_p.P116P	p.P116P	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		6	470	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	116					A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.348G>A	CCDS9511.1																																																																																				PASS	0.453	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			42	361	42	361	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111138086	111138086	+	Missense_Mutation	SNP	G	G	A	rs387906603		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr13:111138086G>A	ENST00000360467.5	+	34	3416	c.3110G>A	c.(3109-3111)gGa>gAa	p.G1037E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1037	Triple-helical region.		G -> E (in POREN2). {ECO:0000269|PubMed:22209246}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G1037E(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGTCAAGGGAGACATCGGA	0.627																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(3109-3111)GGA>GAA		alpha 2 type IV collagen preproprotein							49.0	57.0	55.0					13																	111138086		1892	4104	5996	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111138086G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3110G>A	13.37:g.111138086G>A	ENSP00000353654:p.Gly1037Glu						p.G1037E	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		34	3399	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1037			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.3110G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197474	0.58126	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99353	-5.77	5.11	5.11	0.69529	.	0.000000	0.53938	D	0.000060	D	0.99588	0.9851	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97855	1.0277	10	0.87932	D	0	.	15.4724	0.75449	0.0:0.0:1.0:0.0	.	1037	P08572	CO4A2_HUMAN	E	1037	ENSP00000353654:G1037E	ENSP00000257309:G1037E	G	+	2	0	COL4A2	109936087	1.000000	0.71417	0.999000	0.59377	0.855000	0.48748	5.646000	0.67916	2.365000	0.80145	0.563000	0.77884	GGA		PASS	0.627	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		10	130	10	130	---	---	---	---
SSTR1	6751	broad.mit.edu	37	14	38679090	38679090	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr14:38679090G>A	ENST00000267377.2	+	3	1113	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	166					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.A166T(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CATCAAGGCGGCCCGCTACCG	0.637																																						uc001wul.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|lung(1)	5						c.(496-498)GCC>ACC		somatostatin receptor 1	Octreotide(DB00104)						72.0	72.0	72.0					14																	38679090		2203	4299	6502	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679090G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.496G>A	14.37:g.38679090G>A	ENSP00000267377:p.Ala166Thr					SSTR1_uc010amu.1_Intron	p.A166T	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1113	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		166			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000267377.2	37	c.496G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235792	0.58886	.	.	ENSG00000139874	ENST00000267377	T	0.71934	-0.61	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.68796	0.3040	L	0.41710	1.295	0.58432	D	0.999998	B	0.33748	0.423	B	0.42138	0.377	T	0.65701	-0.6104	10	0.28530	T	0.3	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	166	P30872	SSR1_HUMAN	T	166	ENSP00000267377:A166T	ENSP00000267377:A166T	A	+	1	0	SSTR1	37748841	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	4.391000	0.59652	2.514000	0.84764	0.561000	0.74099	GCC		PASS	0.637	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			14	73	14	73	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64593522	64593522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr14:64593522C>A	ENST00000344113.4	+	73	14126	c.13914C>A	c.(13912-13914)taC>taA	p.Y4638*	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Nonsense_Mutation_p.Y1023*|SYNE2_ENST00000394768.2_Nonsense_Mutation_p.Y1023*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Y4589*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.Y1272*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Y4638*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4638					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Y4638*(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCGCAGTTACCAGGTATGAT	0.458																																						uc001xgm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(13912-13914)TAC>TAA		spectrin repeat containing, nuclear envelope 2							68.0	60.0	63.0					14																	64593522		2203	4300	6503	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64593522C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13914C>A	14.37:g.64593522C>A	ENSP00000341781:p.Tyr4638*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.Y4638*|SYNE2_uc010apy.2_Nonsense_Mutation_p.Y1023*|SYNE2_uc010apz.1_Nonsense_Mutation_p.Y530*	p.Y4638*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	73	14144	+			4638			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.13914C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	52	19.951768	0.99925	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	.	.	.	5.76	-8.49	0.00931	.	0.500761	0.16905	N	0.194726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0955	0.72232	0.0906:0.6891:0.0:0.2203	.	.	.	.	X	4638;1023;4638;4589;4589;1272;1023	.	ENSP00000261678:Y4589X	Y	+	3	2	SYNE2	63663275	0.328000	0.24687	0.007000	0.13788	0.020000	0.10135	-0.899000	0.04101	-1.695000	0.01423	-0.345000	0.07892	TAC		PASS	0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	97	6	97	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71555129	71555129	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr14:71555129C>T	ENST00000304743.2	+	29	5866	c.5420C>T	c.(5419-5421)gCa>gTa	p.A1807V	PCNX_ENST00000238570.5_Missense_Mutation_p.A1735V|PCNX_ENST00000439984.3_Missense_Mutation_p.A1696V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1807						integral component of membrane (GO:0016021)		p.A1807V(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTGGGGACTGCATCCCATCAT	0.423																																						uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5419-5421)GCA>GTA		pecanex-like 1							131.0	111.0	118.0					14																	71555129		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71555129C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5420C>T	14.37:g.71555129C>T	ENSP00000304192:p.Ala1807Val					PCNX_uc010are.1_Missense_Mutation_p.A1696V|PCNX_uc010arf.1_Missense_Mutation_p.A595V	p.A1807V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	29	5866	+			1807					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5420C>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.331872|5.331872	0.95733|0.95733	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.54071|.	0.59;0.59;0.59|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76912|0.76912	0.4054|0.4054	M|M	0.76170|0.76170	2.325|2.325	0.48452|0.48452	D|D	0.999653|0.999653	D;P;D|.	0.67145|.	0.996;0.876;0.991|.	D;P;D|.	0.77557|.	0.99;0.799;0.946|.	T|T	0.76457|0.76457	-0.2952|-0.2952	10|5	0.72032|.	D|.	0.01|.	.|.	18.8265|18.8265	0.92121|0.92121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1735;1696;1807|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	V|Y	1807;1735;1696|794	ENSP00000304192:A1807V;ENSP00000238570:A1735V;ENSP00000396617:A1696V|.	ENSP00000238570:A1735V|.	A|H	+|+	2|1	0|0	PCNX|PCNX	70624882|70624882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.127000|7.127000	0.77210|0.77210	2.685000|2.685000	0.91497|0.91497	0.650000|0.650000	0.86243|0.86243	GCA|CAT		PASS	0.423	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		4	106	4	106	---	---	---	---
CEP128	145508	broad.mit.edu	37	14	81380730	81380730	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr14:81380730T>A	ENST00000555265.1	-	4	545	c.170A>T	c.(169-171)cAa>cTa	p.Q57L	CEP128_ENST00000327841.2_5'UTR|CEP128_ENST00000216517.6_Missense_Mutation_p.Q57L|CEP128_ENST00000281129.3_Missense_Mutation_p.Q57L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	57						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.Q57L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTGGTCCACTTGTCGCAGGTT	0.393																																						uc001xux.2																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)CAA>CTA		hypothetical protein LOC145508							173.0	157.0	162.0					14																	81380730		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81380730T>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.170A>T	14.37:g.81380730T>A	ENSP00000451162:p.Gln57Leu					C14orf145_uc001xuz.2_Missense_Mutation_p.Q57L|C14orf145_uc001xva.1_Missense_Mutation_p.Q57L|C14orf145_uc010ata.1_Missense_Mutation_p.Q57L	p.Q57L	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	3	341	-			57					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.170A>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460824	0.63513	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000555529;ENST00000556042	T;T;T;T;T	0.46063	1.47;1.47;0.88;0.89;0.89	5.15	3.92	0.45320	.	0.268590	0.30949	N	0.008546	T	0.33498	0.0865	L	0.27053	0.805	0.80722	D	1	B;P;B	0.40731	0.017;0.728;0.004	B;P;B	0.44359	0.011;0.447;0.004	T	0.14476	-1.0471	10	0.56958	D	0.05	.	8.9987	0.36068	0.1649:0.0:0.0:0.8351	.	57;57;57	G3V3F4;Q6ZU80-3;Q6ZU80	.;.;CE128_HUMAN	L	57	ENSP00000281129:Q57L;ENSP00000451162:Q57L;ENSP00000216517:Q57L;ENSP00000451137:Q57L;ENSP00000451214:Q57L	ENSP00000216517:Q57L	Q	-	2	0	CEP128	80450483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.442000	0.52900	2.060000	0.61445	0.482000	0.46254	CAA		PASS	0.393	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		17	173	17	173	---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102916045	102916046	+	Missense_Mutation	DNP	CA	CA	TT			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr14:102916045_102916046CA>TT	ENST00000359520.7	+	14	3381_3382	c.3155_3156CA>TT	c.(3154-3156)aCA>aTT	p.T1052I	TECPR2_ENST00000558678.1_Missense_Mutation_p.T1052I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1052					autophagy (GO:0006914)|cell death (GO:0008219)			p.T1052I(2)|p.T1052T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCGGTGGCCACAGCAGCCCAAG	0.545																																						uc001ylw.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(3154-3156)ACA>ATA|c.(3154-3156)ACA>ACT		tectonin beta-propeller repeat containing 2																																				SO:0001583	missense	9895						protein binding	g.chr14:102916045C>T|g.chr14:102916046A>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		Exception_encountered	14.37:g.102916045_102916046delinsTT	ENSP00000352510:p.Thr1052Ile					TECPR2_uc010awl.2_Missense_Mutation_p.T1052I|TECPR2_uc010txx.1_Missense_Mutation_p.T215I|TECPR2_uc010awl.2_Silent_p.T1052T|TECPR2_uc010txx.1_Silent_p.T215T	p.T1052I|p.T1052T	NM_014844	NP_055659	O15040	TCPR2_HUMAN			14	3303|3304	+			1052					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation|Silent	SNP	ENST00000359520.7	37	c.3155C>T|c.3156A>T	CCDS32162.1																																																																																				PASS	0.545	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		10	153|148	10	148	---	---	---	---
BAG5	9529	broad.mit.edu	37	14	104026793	104026793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr14:104026793C>A	ENST00000445922.2	-	2	955	c.709G>T	c.(709-711)Gaa>Taa	p.E237*	APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000299204.4_Nonsense_Mutation_p.E237*|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000337322.4_Nonsense_Mutation_p.E278*|RP11-73M18.2_ENST00000472726.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000409074.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	237	BAG 3. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.E237*(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TTTCTGATTTCTGTCCGGCCG	0.458																																					NSCLC(171;1832 2055 18950 31566 41632)	uc001yni.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(709-711)GAA>TAA		BCL2-associated athanogene 5 isoform b							100.0	99.0	99.0					14																	104026793		2203	4300	6503	SO:0001587	stop_gained	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104026793C>A	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.709G>T	14.37:g.104026793C>A	ENSP00000391713:p.Glu237*					KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Nonsense_Mutation_p.E278*|BAG5_uc001ynj.1_Nonsense_Mutation_p.E237*|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	p.E237*	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	943	-		Melanoma(154;0.155)	237			BAG 3.		O94950|Q86W59	Nonsense_Mutation	SNP	ENST00000445922.2	37	c.709G>T	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	37	6.355487	0.97498	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	.	.	.	5.52	5.52	0.82312	.	0.312185	0.33515	N	0.004839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-35.474	19.4502	0.94863	0.0:1.0:0.0:0.0	.	.	.	.	X	237;237;278	.	ENSP00000299204:E237X	E	-	1	0	BAG5	103096546	1.000000	0.71417	0.150000	0.22450	0.993000	0.82548	6.903000	0.75703	2.612000	0.88384	0.655000	0.94253	GAA		PASS	0.458	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			13	196	13	196	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105415980	105415980	+	Silent	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr14:105415980T>C	ENST00000333244.5	-	7	5927	c.5808A>G	c.(5806-5808)aaA>aaG	p.K1936K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1936						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.K1936K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTGGGGCCTTTCAGGTCCA	0.607																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(5806-5808)AAA>AAG		AHNAK nucleoprotein 2							126.0	138.0	134.0					14																	105415980		1902	4075	5977	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105415980T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5808A>G	14.37:g.105415980T>C						AHNAK2_uc001ypx.2_Silent_p.K1836K	p.K1936K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5928	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1936					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.5808A>G	CCDS45177.1																																																																																				PASS	0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		18	373	18	373	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25953150	25953150	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr15:25953150G>A	ENST00000356865.6	-	12	2659	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	850					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R850C(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTCTCCAGGCGAATGGCAGAC	0.542																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2548-2550)CGC>TGC		ATPase, class V, type 10A							76.0	67.0	70.0					15																	25953150		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953150G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2548C>T	15.37:g.25953150G>A	ENSP00000349325:p.Arg850Cys						p.R850C	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	12	2654	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	850			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2548C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237191	0.79800	.	.	ENSG00000206190	ENST00000356865	T	0.11604	2.76	4.68	4.68	0.58851	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.112351	0.64402	D	0.000007	T	0.35038	0.0918	M	0.81682	2.555	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	T	0.30707	-0.9969	10	0.87932	D	0	-30.9563	17.9745	0.89123	0.0:0.0:1.0:0.0	.	850	O60312	AT10A_HUMAN	C	850	ENSP00000349325:R850C	ENSP00000349325:R850C	R	-	1	0	ATP10A	23504243	1.000000	0.71417	0.934000	0.37439	0.992000	0.81027	4.805000	0.62561	2.311000	0.77944	0.655000	0.94253	CGC		PASS	0.542	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		16	56	16	56	---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27126086	27126086	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr15:27126086C>G	ENST00000335625.5	+	4	1068	c.180C>G	c.(178-180)taC>taG	p.Y60*	GABRA5_ENST00000400081.3_Nonsense_Mutation_p.Y60*|GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.Y60*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	60					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.Y60*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TGGATGGCTACGACAACAGAC	0.502																																						uc001zbd.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(178-180)TAC>TAG		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						83.0	84.0	84.0					15																	27126086		2005	4175	6180	SO:0001587	stop_gained	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27126086C>G		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.180C>G	15.37:g.27126086C>G	ENSP00000335592:p.Tyr60*					GABRB3_uc001zbb.2_Intron	p.Y60*	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	5	519	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	60			Extracellular (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	ENST00000335625.5	37	c.180C>G	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	37	6.078794	0.97262	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599;ENST00000554083	.	.	.	5.55	-6.55	0.01854	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0293	0.97532	0.0:0.7166:0.0:0.2834	.	.	.	.	X	60;60;28;60;60;60;60;28	.	ENSP00000335592:Y60X	Y	+	3	2	GABRA5	24677179	0.062000	0.20869	0.712000	0.30502	0.889000	0.51656	-0.706000	0.05047	-1.778000	0.01282	-1.134000	0.01955	TAC		PASS	0.502	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			3	90	3	90	---	---	---	---
ZNF263	10127	broad.mit.edu	37	16	3340467	3340467	+	Missense_Mutation	SNP	C	C	T	rs373512796		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr16:3340467C>T	ENST00000219069.5	+	6	2837	c.1961C>T	c.(1960-1962)aCg>aTg	p.T654M	ZNF263_ENST00000538765.1_Missense_Mutation_p.T302M	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	654					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T654M(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AGAACGCATACGGGAGAGAGA	0.488																																						uc002cuq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1960-1962)ACG>ATG		zinc finger protein 263		C	MET/THR	0,4394		0,0,2197	80.0	84.0	83.0		1961	4.7	0.4	16		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF263	NM_005741.4	81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	654/684	3340467	1,12993	2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3340467C>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1961C>T	16.37:g.3340467C>T	ENSP00000219069:p.Thr654Met					ZNF263_uc010uww.1_Missense_Mutation_p.T302M|ZNF263_uc002cur.2_Missense_Mutation_p.T302M	p.T654M	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	2293	+			654					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1961C>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357313	0.41801	0.0	1.16E-4	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.26373	1.74;1.74	5.61	4.65	0.58169	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000029	T	0.54806	0.1881	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.61033	-0.7144	10	0.87932	D	0	.	11.8894	0.52620	0.0:0.9159:0.0:0.0841	.	654	O14978	ZN263_HUMAN	M	302;654	ENSP00000444497:T302M;ENSP00000219069:T654M	ENSP00000219069:T654M	T	+	2	0	ZNF263	3280468	0.455000	0.25736	0.428000	0.26697	0.677000	0.39632	2.570000	0.45981	2.816000	0.96949	0.561000	0.74099	ACG		PASS	0.488	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			33	224	33	224	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24971010	24971010	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr16:24971010C>T	ENST00000289968.6	-	9	775	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E236K|ARHGAP17_ENST00000575975.1_Intron|ARHGAP17_ENST00000441763.2_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	236	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.E236K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTCGCATTTCGGGGAGGGTC	0.483																																						uc002dnb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(706-708)GAA>AAA		nadrin isoform 1							116.0	107.0	110.0					16																	24971010		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24971010C>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.706G>A	16.37:g.24971010C>T	ENSP00000289968:p.Glu236Lys					ARHGAP17_uc002dna.2_5'Flank|ARHGAP17_uc002dnc.2_Missense_Mutation_p.E236K|ARHGAP17_uc010vcf.1_Missense_Mutation_p.E57K|ARHGAP17_uc002dnf.2_Missense_Mutation_p.E144K|ARHGAP17_uc002dng.1_Intron	p.E236K	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	9	799	-			236			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.706G>A	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049983	0.55218	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.32753	1.44;1.44	5.67	5.67	0.87782	BAR (3);	0.000000	0.44285	D	0.000468	T	0.35537	0.0935	L	0.45698	1.435	0.80722	D	1	B;D;B	0.65815	0.105;0.995;0.203	B;P;B	0.48654	0.011;0.585;0.069	T	0.02307	-1.1179	10	0.21014	T	0.42	.	17.2386	0.87006	0.0:1.0:0.0:0.0	.	236;236;236	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	K	236	ENSP00000289968:E236K;ENSP00000303130:E236K	ENSP00000289968:E236K	E	-	1	0	ARHGAP17	24878511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.680000	0.54641	2.666000	0.90696	0.585000	0.79938	GAA		PASS	0.483	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		7	127	7	127	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27374493	27374493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr16:27374493C>A	ENST00000395762.2	+	11	2079	c.1820C>A	c.(1819-1821)tCa>tAa	p.S607*	IL4R_ENST00000170630.2_Nonsense_Mutation_p.S607*|IL4R_ENST00000380922.3_Nonsense_Mutation_p.S592*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.S607*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	607	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.S607*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AAGGCCTTCTCAAGCCTGCTT	0.597																																						uc002don.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1819-1821)TCA>TAA		interleukin 4 receptor alpha chain isoform a							36.0	39.0	38.0					16																	27374493		2196	4300	6496	SO:0001587	stop_gained	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374493C>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1820C>A	16.37:g.27374493C>A	ENSP00000379111:p.Ser607*					IL4R_uc002dop.3_Nonsense_Mutation_p.S592*|IL4R_uc010bxy.2_Nonsense_Mutation_p.S607*|IL4R_uc002doo.2_Nonsense_Mutation_p.S447*	p.S607*	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	2062	+			607			Required for IL4-induced gene expression.|Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	37	c.1820C>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	38	6.971100	0.97971	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	5.09	4.13	0.48395	.	2.792480	0.00951	N	0.002962	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9719	11.6839	0.51474	0.0:0.8212:0.1788:0.0	.	.	.	.	X	607;607;592;607	.	ENSP00000170630:S607X	S	+	2	0	IL4R	27281994	0.341000	0.24801	0.841000	0.33234	0.192000	0.23643	0.933000	0.28897	1.139000	0.42245	0.555000	0.69702	TCA		PASS	0.597	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			4	101	4	101	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28841947	28841947	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr16:28841947A>G	ENST00000336783.4	+	9	1213	c.1046A>G	c.(1045-1047)tAt>tGt	p.Y349C	ATXN2L_ENST00000325215.6_Missense_Mutation_p.Y349C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.Y349C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.Y349C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.Y349C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.Y349C|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Missense_Mutation_p.Y349C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	349					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.Y349C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGGGGAAGTATATCCCTCTG	0.552																																						uc002drc.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1045-1047)TAT>TGT		ataxin 2 related protein isoform A							40.0	39.0	39.0					16																	28841947		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28841947A>G		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1046A>G	16.37:g.28841947A>G	ENSP00000338718:p.Tyr349Cys					uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.Y349C|ATXN2L_uc002drb.2_Missense_Mutation_p.Y349C|ATXN2L_uc002dqy.2_Missense_Mutation_p.Y349C|ATXN2L_uc002dra.2_Missense_Mutation_p.Y349C|ATXN2L_uc002dqz.2_Missense_Mutation_p.Y349C|ATXN2L_uc010vdb.1_Missense_Mutation_p.Y349C|ATXN2L_uc002dre.2_Missense_Mutation_p.Y349C|ATXN2L_uc002drf.2_5'UTR	p.Y349C	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			9	1214	+			349					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1046A>G	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.451038	0.84209	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.56611	0.49;0.45;0.45;0.5;0.47	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000003	T	0.70141	0.3190	L	0.61218	1.895	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.996;0.996;0.998;0.998;0.996;0.998	T	0.72871	-0.4161	10	0.72032	D	0.01	-3.671	15.115	0.72394	1.0:0.0:0.0:0.0	.	349;349;349;349;349;349;349;349	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	C	349	ENSP00000341459:Y349C;ENSP00000378917:Y349C;ENSP00000338718:Y349C;ENSP00000372133:Y349C;ENSP00000315650:Y349C	ENSP00000315650:Y349C	Y	+	2	0	ATXN2L	28749448	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.062000	0.76706	2.219000	0.72066	0.460000	0.39030	TAT		PASS	0.552	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		10	62	10	62	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30749733	30749733	+	Missense_Mutation	SNP	C	C	T	rs374720304		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr16:30749733C>T	ENST00000262518.4	+	34	8757	c.8372C>T	c.(8371-8373)cCg>cTg	p.P2791L	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2791	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.P2791L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCGGGAAGCCCGTCTGTCCGC	0.662																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(8371-8373)CCG>CTG		Snf2-related CBP activator protein		C	LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	55.0	62.0	60.0		8372	4.1	1.0	16		60	0,8600		0,0,4300	no	missense	SRCAP	NM_006662.2	98	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	2791/3231	30749733	1,12993	2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749733C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8372C>T	16.37:g.30749733C>T	ENSP00000262518:p.Pro2791Leu					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P2586L	p.P2791L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8757	+			2791			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8372C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	1.783	-0.481343	0.04383	2.28E-4	0.0	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91295	-2.8;-2.82;-2.81	5.04	4.07	0.47477	.	0.266926	0.27122	N	0.020822	T	0.75087	0.3802	N	0.08118	0	0.34513	D	0.707273	P;P	0.39624	0.681;0.553	B;B	0.25140	0.058;0.026	T	0.81141	-0.1068	10	0.59425	D	0.04	-8.0891	8.3108	0.32071	0.1775:0.651:0.1714:0.0	.	2729;2791	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2791;2729;2633	ENSP00000262518:P2791L;ENSP00000378499:P2729L;ENSP00000343042:P2633L	ENSP00000262518:P2791L	P	+	2	0	SRCAP	30657234	0.061000	0.20836	0.988000	0.46212	0.069000	0.16628	0.750000	0.26334	1.316000	0.45131	0.591000	0.81541	CCG		PASS	0.662	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	123	7	123	---	---	---	---
VPS4A	27183	broad.mit.edu	37	16	69350244	69350244	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr16:69350244C>T	ENST00000254950.11	+	3	406	c.250C>T	c.(250-252)Cca>Tca	p.P84S	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.P108S	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)									p.P84S(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CGGCAAGAAGCCAGTCAAAGA	0.572																																						uc002eww.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)CCA>TCA		vacuolar protein sorting factor 4A							85.0	102.0	96.0					16																	69350244		2072	4204	6276	SO:0001583	missense	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69350244C>T	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.250C>T	16.37:g.69350244C>T	ENSP00000254950:p.Pro84Ser						p.P84S	NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN			3	378	+		Ovarian(137;0.101)	84			Interaction with CHMP1B.			Missense_Mutation	SNP	ENST00000254950.11	37	c.250C>T	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063812	0.93898	.	.	ENSG00000132612	ENST00000254950	T	0.20332	2.08	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.64260	1.97	0.80722	D	1	P	0.52316	0.952	P	0.48770	0.589	T	0.01053	-1.1467	10	0.35671	T	0.21	-20.621	18.958	0.92668	0.0:1.0:0.0:0.0	.	84	Q9UN37	VPS4A_HUMAN	S	84	ENSP00000254950:P84S	ENSP00000254950:P84S	P	+	1	0	VPS4A	67907745	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.772000	0.85439	2.775000	0.95449	0.655000	0.94253	CCA		PASS	0.572	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		4	128	4	128	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69727791	69727791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr16:69727791C>T	ENST00000354436.2	+	12	4327	c.4009C>T	c.(4009-4011)Cag>Tag	p.Q1337*	NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1261*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q1261*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1354*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1355*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1261*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1337					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1261*(1)|p.Q1355*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCCTCACTTCAGAACCCAGG	0.473																																						uc002exm.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(4009-4011)CAG>TAG		nuclear factor of activated T-cells 5 isoform c							92.0	86.0	88.0					16																	69727791		2198	4300	6498	SO:0001587	stop_gained	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727791C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4009C>T	16.37:g.69727791C>T	ENSP00000346420:p.Gln1337*					NFAT5_uc002exi.2_Nonsense_Mutation_p.Q1261*|NFAT5_uc002exj.1_Nonsense_Mutation_p.Q1261*|NFAT5_uc002exk.1_Nonsense_Mutation_p.Q1261*|NFAT5_uc002exl.1_Nonsense_Mutation_p.Q1355*|NFAT5_uc002exn.1_Nonsense_Mutation_p.Q1354*|NFAT5_uc002exo.1_RNA	p.Q1337*	NM_006599	NP_006590	O94916	NFAT5_HUMAN			12	5217	+			1337					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	37	c.4009C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	41	8.903350	0.98996	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	5.54	5.54	0.83059	.	0.716758	0.14240	N	0.332178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-1.1465	19.479	0.95002	0.0:1.0:0.0:0.0	.	.	.	.	X	1355;1354;1261;1337;1261	.	ENSP00000338806:Q1261X	Q	+	1	0	NFAT5	68285292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.043000	0.71004	2.596000	0.87737	0.655000	0.94253	CAG		PASS	0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		15	185	15	185	---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88898492	88898492	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr16:88898492A>T	ENST00000268695.5	-	9	1004	c.916T>A	c.(916-918)Ttt>Att	p.F306I	GALNS_ENST00000542788.1_Missense_Mutation_p.F231I	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	306	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.F306I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		CCACACAGAAAGGGGCCGTTG	0.657																																					GBM(129;1929 2344 25209 33204)	uc002fly.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(916-918)TTT>ATT		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						73.0	56.0	62.0					16																	88898492		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88898492A>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.916T>A	16.37:g.88898492A>T	ENSP00000268695:p.Phe306Ile					GALNS_uc010cid.2_Missense_Mutation_p.F312I|GALNS_uc002flz.3_5'UTR	p.F306I	NM_000512	NP_000503	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	9	1005	-			306					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.916T>A	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	A	33	5.215637	0.95104	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.94576	-3.46;-3.46	5.4	5.4	0.78164	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	M	0.93106	3.38	0.80722	D	1	D;D	0.58970	0.984;0.976	P;P	0.61275	0.886;0.828	D	0.98370	1.0553	10	0.66056	D	0.02	.	15.4732	0.75456	1.0:0.0:0.0:0.0	.	306;306	B2R6P1;P34059	.;GALNS_HUMAN	I	306;231	ENSP00000268695:F306I;ENSP00000438197:F231I	ENSP00000268695:F306I	F	-	1	0	GALNS	87425993	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.008000	0.93601	2.064000	0.61679	0.449000	0.29647	TTT		PASS	0.657	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			5	31	5	31	---	---	---	---
SENP3	26168	broad.mit.edu	37	17	7468014	7468014	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:7468014C>A	ENST00000429205.2	+	3	837	c.788C>A	c.(787-789)cCc>cAc	p.P263H	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000321337.7_Missense_Mutation_p.P263H|SENP3_ENST00000578868.1_3'UTR			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	263						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)	p.P263H(1)		central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AGCTTGGCACCCCCTGATGCC	0.577																																						uc002ghm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(787-789)CCC>CAC		SUMO1/sentrin/SMT3 specific protease 3							64.0	62.0	63.0					17																	7468014		1954	4163	6117	SO:0001583	missense	26168				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	g.chr17:7468014C>A	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.788C>A	17.37:g.7468014C>A	ENSP00000403712:p.Pro263His					EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_Missense_Mutation_p.P98H	p.P263H	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN			3	1061	+		Prostate(122;0.157)	263					Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	37	c.788C>A		.	.	.	.	.	.	.	.	.	.	C	20.7	4.038003	0.75617	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.55588	0.51;0.52	5.98	5.98	0.97165	.	0.110656	0.41294	D	0.000917	T	0.39572	0.1083	N	0.14661	0.345	0.36588	D	0.873936	P	0.37158	0.585	B	0.40444	0.329	T	0.40175	-0.9577	10	0.17369	T	0.5	-5.5554	15.9367	0.79717	0.0:1.0:0.0:0.0	.	263	Q9H4L4	SENP3_HUMAN	H	263	ENSP00000314029:P263H;ENSP00000403712:P263H	ENSP00000314029:P263H	P	+	2	0	SENP3	7408738	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.836000	0.48183	2.837000	0.97791	0.591000	0.81541	CCC		PASS	0.577	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		4	93	4	93	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18188474	18188474	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:18188474G>A	ENST00000321105.5	-	15	2073	c.1859C>T	c.(1858-1860)gCg>gTg	p.A620V	TOP3A_ENST00000540524.1_Missense_Mutation_p.A150V|TOP3A_ENST00000542570.1_Missense_Mutation_p.A525V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	620					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.A620V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTTAGCCACCGCTTCAATGAA	0.453																																						uc002gsx.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1858-1860)GCG>GTG		topoisomerase (DNA) III alpha							197.0	196.0	196.0					17																	18188474		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18188474G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1859C>T	17.37:g.18188474G>A	ENSP00000321636:p.Ala620Val					TOP3A_uc010cpz.1_Missense_Mutation_p.A72V|TOP3A_uc010vxr.1_Missense_Mutation_p.A150V|TOP3A_uc002gsw.1_Missense_Mutation_p.A72V|TOP3A_uc010vxs.1_Missense_Mutation_p.A518V	p.A620V	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			15	2088	-			620					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1859C>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218852	0.58560	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.12672	3.03;2.66;3.04	5.54	5.54	0.83059	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.046535	0.85682	D	0.000000	T	0.15955	0.0384	M	0.62723	1.935	0.80722	D	1	B;B	0.25486	0.127;0.127	B;B	0.21917	0.036;0.037	T	0.13388	-1.0511	10	0.02654	T	1	-17.8157	19.4796	0.95003	0.0:0.0:1.0:0.0	.	525;620	B4DK80;Q13472	.;TOP3A_HUMAN	V	620;150;525	ENSP00000321636:A620V;ENSP00000446425:A150V;ENSP00000442336:A525V	ENSP00000321636:A620V	A	-	2	0	TOP3A	18129199	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.755000	0.98912	2.608000	0.88229	0.603000	0.83216	GCG		PASS	0.453	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			49	319	49	319	---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36705423	36705423	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:36705423G>A	ENST00000264659.7	-	16	3210	c.2986C>T	c.(2986-2988)Cgc>Tgc	p.R996C	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R1030C|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	868					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.R996C(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TTCTCTGTGCGGTATCGGGGC	0.642																																						uc002hqd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2986-2988)CGC>TGC		SNAP25-interacting protein							15.0	18.0	17.0					17																	36705423		1961	4123	6084	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36705423G>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2986C>T	17.37:g.36705423G>A	ENSP00000264659:p.Arg996Cys					SRCIN1_uc002hqf.1_Missense_Mutation_p.R868C|SRCIN1_uc002hqe.2_Missense_Mutation_p.R850C	p.R996C	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			16	3211	-			868			Pro-rich.		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2986C>T	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511242	0.85389	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.42131	0.98	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.60596	-0.7232	10	0.56958	D	0.05	-22.5682	13.3523	0.60609	0.0:0.0:0.8415:0.1585	.	868;868;996	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	C	996;777;850	ENSP00000264659:R996C	ENSP00000264659:R996C	R	-	1	0	SRCIN1	33958949	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.037000	0.70956	2.474000	0.83562	0.555000	0.69702	CGC		PASS	0.642	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		8	34	8	34	---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37949057	37949057	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:37949057T>C	ENST00000346872.3	-	4	354	c.293A>G	c.(292-294)aAc>aGc	p.N98S	IKZF3_ENST00000535189.1_Missense_Mutation_p.N64S|IKZF3_ENST00000377945.3_Missense_Mutation_p.N98S|IKZF3_ENST00000350532.3_Missense_Mutation_p.N98S|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.N98S|IKZF3_ENST00000439167.2_Missense_Mutation_p.N64S|IKZF3_ENST00000351680.3_Missense_Mutation_p.N98S|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.N98S|IKZF3_ENST00000439016.2_Missense_Mutation_p.N98S	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	98					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N98S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAACTTAATGTTTTCATATTC	0.393																																						uc002hsu.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|kidney(2)|skin(2)	6						c.(292-294)AAC>AGC		aiolos isoform 1							146.0	132.0	137.0					17																	37949057		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37949057T>C	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.293A>G	17.37:g.37949057T>C	ENSP00000344544:p.Asn98Ser					IKZF3_uc002htd.2_Missense_Mutation_p.N64S|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.N64S|IKZF3_uc010cwe.2_Missense_Mutation_p.N98S|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.N98S|IKZF3_uc002hsx.2_Missense_Mutation_p.N98S|IKZF3_uc002hsy.2_Missense_Mutation_p.N98S|IKZF3_uc002hsz.2_Missense_Mutation_p.N98S|IKZF3_uc002hta.2_Missense_Mutation_p.N98S|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR	p.N98S	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	355	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		98					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.293A>G	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.949|8.949	0.967786|0.967786	0.18659|0.18659	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T|.	0.06294|.	3.39;3.61;3.37;3.37;3.42;3.32;4.35|.	5.96|5.96	2.34|2.34	0.29019|0.29019	.|.	0.373852|.	0.25890|.	N|.	0.027625|.	T|T	0.14960|0.14960	0.0361|0.0361	N|N	0.04203|0.04203	-0.255|-0.255	0.09310|0.09310	N|N	0.999991|0.999991	B;B;B;B;B;B;B;B;B|.	0.28713|.	0.002;0.0;0.001;0.22;0.001;0.001;0.001;0.001;0.0|.	B;B;B;B;B;B;B;B;B|.	0.34931|.	0.003;0.003;0.007;0.192;0.005;0.005;0.004;0.004;0.002|.	T|T	0.26744|0.26744	-1.0094|-1.0094	10|5	0.15066|.	T|.	0.55|.	-13.7058|-13.7058	6.3465|6.3465	0.21353|0.21353	0.0:0.5173:0.0:0.4827|0.0:0.5173:0.0:0.4827	.|.	98;64;98;98;98;98;98;64;98|.	Q9UKT9-13;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	S|A	98;98;98;64;98;98;98;98|52	ENSP00000344544:N98S;ENSP00000367180:N98S;ENSP00000438972:N64S;ENSP00000345622:N98S;ENSP00000341977:N98S;ENSP00000344471:N98S;ENSP00000420463:N98S|.	ENSP00000341977:N98S|.	N|T	-|-	2|1	0|0	IKZF3|IKZF3	35202583|35202583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.064000|1.064000	0.30579|0.30579	0.481000|0.481000	0.27557|0.27557	0.533000|0.533000	0.62120|0.62120	AAC|ACA		PASS	0.393	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		13	220	13	220	---	---	---	---
KRTAP9-8	83901	broad.mit.edu	37	17	39394356	39394356	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:39394356G>A	ENST00000254072.6	+	1	60	c.53G>A	c.(52-54)tGc>tAc	p.C18Y		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	18	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)		p.C18Y(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGGACCACCTGCTGGAAGCCC	0.617																																						uc002hwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)TGC>TAC		keratin associated protein 9.8							119.0	145.0	136.0					17																	39394356		2102	4300	6402	SO:0001583	missense	83901					keratin filament		g.chr17:39394356G>A	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.53G>A	17.37:g.39394356G>A	ENSP00000254072:p.Cys18Tyr					KRTAP9-9_uc010wfq.1_Intron	p.C18Y	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	87	+		Breast(137;0.000496)	18			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Missense_Mutation	SNP	ENST00000254072.6	37	c.53G>A	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	18.85	3.710604	0.68730	.	.	ENSG00000187272	ENST00000254072	T	0.03717	3.83	2.79	2.79	0.32731	.	.	.	.	.	T	0.15219	0.0367	M	0.75150	2.29	0.35697	D	0.815275	D	0.76494	0.999	D	0.71870	0.975	T	0.13045	-1.0524	9	0.87932	D	0	.	11.8102	0.52179	0.0:0.0:1.0:0.0	.	18	Q9BYQ0	KRA98_HUMAN	Y	18	ENSP00000254072:C18Y	ENSP00000254072:C18Y	C	+	2	0	KRTAP9-8	36647882	0.998000	0.40836	0.943000	0.38184	0.922000	0.55478	0.785000	0.26830	1.496000	0.48567	0.306000	0.20318	TGC		PASS	0.617	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			7	113	7	113	---	---	---	---
EME1	146956	broad.mit.edu	37	17	48453533	48453533	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:48453533G>T	ENST00000338165.4	+	3	964	c.882G>T	c.(880-882)agG>agT	p.R294S	MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000503633.1_5'Flank|EME1_ENST00000393271.2_Missense_Mutation_p.R294S|MRPL27_ENST00000442592.3_5'Flank|EME1_ENST00000511648.2_Missense_Mutation_p.R294S	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	294					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R294R(1)|p.R294S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TCACTTGGAGGAGAAGGGCTG	0.522								Direct reversal of damage;Homologous recombination																														uc002iqs.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		ovary(1)|lung(1)		0						c.(880-882)AGG>AGT	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 1							110.0	99.0	102.0					17																	48453533		2203	4300	6503	SO:0001583	missense	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48453533G>T	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.882G>T	17.37:g.48453533G>T	ENSP00000339897:p.Arg294Ser					MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Missense_Mutation_p.R294S	p.R294S	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		3	955	+	Breast(11;5.62e-19)		294					Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	c.882G>T	CCDS11565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.13|12.13	1.846694|1.846694	0.32606|0.32606	.|.	.|.	ENSG00000154920|ENSG00000154920	ENST00000510246|ENST00000338165;ENST00000393271;ENST00000511519;ENST00000511648	.|T;T;T;T	.|0.23348	.|1.91;1.91;2.14;1.91	5.25|5.25	3.28|3.28	0.37604|0.37604	.|ERCC4 domain (2);	.|0.318671	.|0.33161	.|N	.|0.005213	.|T	.|0.20577	.|0.0495	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	.|B;B	.|0.34200	.|0.441;0.316	.|B;B	.|0.32211	.|0.142;0.119	.|T	.|0.03651	.|-1.1016	.|10	.|0.40728	.|T	.|0.16	-19.9718|-19.9718	5.5732|5.5732	0.17208|0.17208	0.2298:0.1437:0.6265:0.0|0.2298:0.1437:0.6265:0.0	.|.	.|294;294	.|Q96AY2-2;Q96AY2	.|.;EME1_HUMAN	X|S	135|294;294;137;294	.|ENSP00000339897:R294S;ENSP00000376952:R294S;ENSP00000423029:R137S;ENSP00000421700:R294S	.|ENSP00000339897:R294S	E|R	+|+	1|3	0|2	EME1|EME1	45808532|45808532	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.603000|0.603000	0.37013|0.37013	1.352000|1.352000	0.34033|0.34033	0.616000|0.616000	0.30141|0.30141	-0.142000|-0.142000	0.14014|0.14014	GAG|AGG		PASS	0.522	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		10	137	10	137	---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	52978259	52978259	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:52978259C>G	ENST00000575882.1	+	1	386	c.33C>G	c.(31-33)taC>taG	p.Y11*	TOM1L1_ENST00000540336.1_5'UTR|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.Y11*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.Y11*|TOM1L1_ENST00000348161.4_5'UTR|TOM1L1_ENST00000572405.1_5'UTR|TOM1L1_ENST00000536554.1_5'UTR|TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.Y11*|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.Y11*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	11					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.Y11*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GGGATCCCTACGCGACCTCCG	0.672																																						uc002iud.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(31-33)TAC>TAG		target of myb1-like 1							60.0	62.0	62.0					17																	52978259		2203	4300	6503	SO:0001587	stop_gained	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:52978259C>G	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.33C>G	17.37:g.52978259C>G	ENSP00000460823:p.Tyr11*					TOM1L1_uc002iub.2_5'UTR|TOM1L1_uc002iuc.2_Nonsense_Mutation_p.Y11*|TOM1L1_uc010dca.1_Nonsense_Mutation_p.Y11*|TOM1L1_uc010wnb.1_Nonsense_Mutation_p.Y11*|TOM1L1_uc010wnc.1_5'UTR|TOM1L1_uc010dbz.2_5'UTR|TOM1L1_uc010wnd.1_5'UTR	p.Y11*	NM_005486	NP_005477	O75674	TM1L1_HUMAN			1	208	+			11					Q53G06|Q8N749	Nonsense_Mutation	SNP	ENST00000575882.1	37	c.33C>G	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262694	0.95399	.	.	ENSG00000141198	ENST00000445275	.	.	.	5.04	0.471	0.16752	.	0.104214	0.40728	N	0.001029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-9.7845	7.0462	0.25046	0.0:0.5606:0.0:0.4394	.	.	.	.	X	11	.	ENSP00000408958:Y11X	Y	+	3	2	TOM1L1	50333258	0.949000	0.32298	0.923000	0.36655	0.990000	0.78478	-0.058000	0.11750	-0.056000	0.13221	-0.186000	0.12905	TAC		PASS	0.672	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		7	128	7	128	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62291306	62291306	+	Missense_Mutation	SNP	G	G	A	rs201071171		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:62291306G>A	ENST00000583097.1	-	2	444	c.272C>T	c.(271-273)tCg>tTg	p.S91L	TEX2_ENST00000584379.1_Missense_Mutation_p.S91L|TEX2_ENST00000258991.3_Missense_Mutation_p.S91L			Q8IWB9	TEX2_HUMAN	testis expressed 2	91					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.S91L(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAGGACAGGCGAGGCAGCAGG	0.592																																						uc002jec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)TCG>TTG		testis expressed sequence 2							132.0	135.0	134.0					17																	62291306		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291306G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.272C>T	17.37:g.62291306G>A	ENSP00000462665:p.Ser91Leu					TEX2_uc002jed.2_Missense_Mutation_p.S91L|TEX2_uc002jee.2_Missense_Mutation_p.S91L	p.S91L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	445	-			91					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.272C>T		.	.	.	.	.	.	.	.	.	.	G	0.235	-1.018278	0.02078	.	.	ENSG00000136478	ENST00000258991	T	0.46063	0.88	4.97	-0.725	0.11174	.	1.003600	0.08026	N	0.992792	T	0.21841	0.0526	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20405	-1.0276	10	0.33940	T	0.23	1.4883	1.9814	0.03427	0.2351:0.1084:0.4902:0.1663	.	91;91	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	L	91	ENSP00000258991:S91L	ENSP00000258991:S91L	S	-	2	0	TEX2	59645038	0.793000	0.28825	0.000000	0.03702	0.003000	0.03518	2.198000	0.42705	-0.147000	0.11254	-2.103000	0.00360	TCG		PASS	0.592	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		26	275	26	275	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66267716	66267716	+	Silent	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:66267716G>T	ENST00000327268.4	-	6	749	c.585C>A	c.(583-585)atC>atA	p.I195I	SLC16A6_ENST00000580666.1_Silent_p.I195I|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	195					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.I195I(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTGCTCCGAAGATGACAATGT	0.478																																						uc002jgz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(583-585)ATC>ATA		solute carrier family 16, member 6	Pyruvic acid(DB00119)						95.0	90.0	91.0					17																	66267716		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267716G>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.585C>A	17.37:g.66267716G>T						ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.I195I	p.I195I	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	773	-	all_cancers(12;1.24e-09)		195			Helical; (Potential).		Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.585C>A	CCDS11675.1																																																																																				PASS	0.478	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		41	137	41	137	---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73698642	73698642	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:73698642G>A	ENST00000584667.1	+	6	736	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	SAP30BP_ENST00000355423.3_Missense_Mutation_p.R144Q|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1			SAP30 binding protein									p.R160Q(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAAGAATTTCGGAACCCTAGG	0.433																																						uc002jpe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)CGG>CAG		transcriptional regulator protein							60.0	62.0	62.0					17																	73698642		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73698642G>A	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.479G>A	17.37:g.73698642G>A	ENSP00000462116:p.Arg160Gln					SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.R144Q	p.R160Q	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	533	+	all_cancers(13;6.42e-08)		160						Missense_Mutation	SNP	ENST00000584667.1	37	c.479G>A	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	G	35	5.493196	0.96339	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.87471	0.2414	9	0.62326	D	0.03	-0.4681	20.0413	0.97592	0.0:0.0:1.0:0.0	.	144;160	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	Q	160;160;144	.	ENSP00000293208:R144Q	R	+	2	0	SAP30BP	71210237	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.143000	0.89621	2.751000	0.94390	0.650000	0.86243	CGG		PASS	0.433	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		10	99	10	99	---	---	---	---
DUS1L	64118	broad.mit.edu	37	17	80019200	80019200	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:80019200C>T	ENST00000354321.7	-	7	1212	c.727G>A	c.(727-729)Gag>Aag	p.E243K	DUS1L_ENST00000306796.5_Missense_Mutation_p.E243K			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	243							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)	p.E243K(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CTCCGGCCCTCGAACAGGGCG	0.677																																						uc002kdq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(727-729)GAG>AAG		PP3111 protein							25.0	26.0	26.0					17																	80019200		2200	4294	6494	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80019200C>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.727G>A	17.37:g.80019200C>T	ENSP00000346280:p.Glu243Lys					DUS1L_uc002kdp.2_Missense_Mutation_p.E112K|DUS1L_uc002kdr.2_Missense_Mutation_p.E243K|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Missense_Mutation_p.E226K	p.E243K	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		7	1146	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		243					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.727G>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662589	0.67700	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.29142	1.58;1.58;1.58	5.03	5.03	0.67393	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	L	0.50993	1.605	0.80722	D	1	P;B;P	0.48407	0.91;0.259;0.801	P;B;B	0.44732	0.459;0.121;0.273	T	0.05937	-1.0855	10	0.18276	T	0.48	-35.8159	18.3191	0.90231	0.0:1.0:0.0:0.0	.	116;243;112	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	K	243;243;116;111	ENSP00000346280:E243K;ENSP00000303515:E243K;ENSP00000445110:E111K	ENSP00000303515:E243K	E	-	1	0	DUS1L	77612489	1.000000	0.71417	0.993000	0.49108	0.753000	0.42808	7.332000	0.79203	2.333000	0.79357	0.561000	0.74099	GAG		PASS	0.677	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		5	50	5	50	---	---	---	---
RBBP8	5932	broad.mit.edu	37	18	20573509	20573509	+	Silent	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr18:20573509A>G	ENST00000399722.2	+	11	2070	c.1719A>G	c.(1717-1719)ccA>ccG	p.P573P	RBBP8_ENST00000360790.5_Silent_p.P573P|RBBP8_ENST00000327155.5_Silent_p.P573P|RBBP8_ENST00000399725.2_Silent_p.P573P	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	573					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.P573P(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ACAATAAACCATCATTACAAA	0.413								Homologous recombination																														uc002ktw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1717-1719)CCA>CCG	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							42.0	43.0	43.0					18																	20573509		2203	4300	6503	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20573509A>G	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1719A>G	18.37:g.20573509A>G						RBBP8_uc002kty.2_Silent_p.P573P|RBBP8_uc002ktz.2_Silent_p.P573P|RBBP8_uc002kua.2_Silent_p.P573P|RBBP8_uc010xap.1_5'Flank|RBBP8_uc002ktx.1_Silent_p.P573P	p.P573P	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	2050	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		573					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.1719A>G	CCDS11875.1																																																																																				PASS	0.413	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		23	182	23	182	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19329873	19329873	+	Missense_Mutation	SNP	C	C	T	rs373921518		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr19:19329873C>T	ENST00000252575.6	+	3	322	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	75	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R75W(1)|p.R89W(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGATGCCCCTCGGATAAAGTG	0.657																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(223-225)CGG>TGG		chondroitin sulfate proteoglycan 3 precursor							47.0	44.0	45.0					19																	19329873		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19329873C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.223C>T	19.37:g.19329873C>T	ENSP00000252575:p.Arg75Trp						p.R75W	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	322	+			75			Ig-like V-type.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.223C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.433676	0.62955	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.66815	-0.23	4.55	3.43	0.39272	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34750	N	0.003709	T	0.81847	0.4909	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84576	0.0658	10	0.87932	D	0	-26.0897	10.996	0.47575	0.1873:0.8127:0.0:0.0	.	75	O14594	NCAN_HUMAN	W	89;75	ENSP00000252575:R75W	ENSP00000252575:R75W	R	+	1	2	NCAN	19190873	0.989000	0.36119	0.979000	0.43373	0.647000	0.38526	2.867000	0.48428	2.060000	0.61445	0.491000	0.48974	CGG		PASS	0.657	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		6	64	6	64	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19339016	19339016	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr19:19339016G>T	ENST00000252575.6	+	8	2686	c.2587G>T	c.(2587-2589)Gtg>Ttg	p.V863L	NCAN_ENST00000538881.1_Missense_Mutation_p.V314L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	863					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.V877L(1)|p.V863L(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GAGCCCTCAGGTGGCCCTGGA	0.587																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2587-2589)GTG>TTG		chondroitin sulfate proteoglycan 3 precursor							84.0	86.0	85.0					19																	19339016		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339016G>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2587G>T	19.37:g.19339016G>T	ENSP00000252575:p.Val863Leu					NCAN_uc010ecc.1_Missense_Mutation_p.V427L	p.V863L	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2686	+			863					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2587G>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	7.484	0.649358	0.14516	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84589	-1.73;-1.87	3.47	1.13	0.20643	.	1.011060	0.07964	N	0.982857	T	0.71846	0.3388	N	0.19112	0.55	0.09310	N	1	B;B	0.24186	0.049;0.099	B;B	0.17722	0.019;0.012	T	0.56637	-0.7946	10	0.27785	T	0.31	.	5.7346	0.18059	0.2743:0.0:0.7257:0.0	.	877;863	Q4LE67;O14594	.;NCAN_HUMAN	L	877;863;314	ENSP00000252575:V863L;ENSP00000442202:V314L	ENSP00000252575:V863L	V	+	1	0	NCAN	19200016	0.001000	0.12720	0.001000	0.08648	0.205000	0.24178	0.140000	0.16056	0.395000	0.25257	0.491000	0.48974	GTG		PASS	0.587	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		12	180	12	180	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36335017	36335017	+	Silent	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr19:36335017G>A	ENST00000378910.5	-	16	2199	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	NPHS1_ENST00000353632.6_Silent_p.L734L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	734					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.L734L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACGTCCAGCCGCAGCCGC	0.652																																						uc002oby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2200-2202)CTG>TTG		nephrin precursor							28.0	33.0	31.0					19																	36335017		2197	4282	6479	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36335017G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2200C>T	19.37:g.36335017G>A							p.L734L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		16	2200	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		734			Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.2200C>T	CCDS32996.1																																																																																				PASS	0.652	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			10	38	10	38	---	---	---	---
IRF3	3661	broad.mit.edu	37	19	50165456	50165456	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr19:50165456G>C	ENST00000597198.1	-	6	1112	c.731C>G	c.(730-732)aCa>aGa	p.T244R	IRF3_ENST00000600911.1_Missense_Mutation_p.T244R|IRF3_ENST00000309877.7_Missense_Mutation_p.T244R|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000598808.1_Missense_Mutation_p.T98R|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377139.3_Missense_Mutation_p.T244R|IRF3_ENST00000593922.1_Missense_Mutation_p.T98R|IRF3_ENST00000601291.1_Missense_Mutation_p.T244R|IRF3_ENST00000599144.1_Missense_Mutation_p.T98R			Q14653	IRF3_HUMAN	interferon regulatory factor 3	244	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.T244R(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GTCTGGCAGTGTGACTGGCCA	0.672																																						uc010end.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(730-732)ACA>AGA		interferon regulatory factor 3							48.0	49.0	49.0					19																	50165456		2203	4300	6503	SO:0001583	missense	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165456G>C		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.731C>G	19.37:g.50165456G>C	ENSP00000469113:p.Thr244Arg					IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Missense_Mutation_p.T244R|IRF3_uc002poy.1_Missense_Mutation_p.T244R|IRF3_uc002pou.2_Missense_Mutation_p.T244R|IRF3_uc002pov.2_Missense_Mutation_p.T98R|IRF3_uc002pow.2_Missense_Mutation_p.T244R|IRF3_uc002poz.1_Missense_Mutation_p.T244R|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	p.T244R	NM_001571	NP_001562	Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1113	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	244			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.731C>G	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.339305	0.41398	.	.	ENSG00000126456	ENST00000377139;ENST00000309877	D;D	0.94687	-3.49;-3.49	4.85	-1.85	0.07784	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.674516	0.14465	N	0.317928	T	0.80691	0.4671	N	0.05031	-0.125	0.09310	N	1	B;B;B;B	0.26547	0.034;0.152;0.152;0.021	B;B;B;B	0.24155	0.048;0.051;0.051;0.021	T	0.71457	-0.4587	10	0.22109	T	0.4	-0.2677	0.7372	0.00967	0.191:0.2812:0.2665:0.2613	.	244;244;244;244	B2RAZ3;Q96GL3;Q7Z5G6;Q14653	.;.;.;IRF3_HUMAN	R	244	ENSP00000366344:T244R;ENSP00000310127:T244R	ENSP00000310127:T244R	T	-	2	0	IRF3	54857268	0.000000	0.05858	0.001000	0.08648	0.706000	0.40770	-0.216000	0.09266	-0.324000	0.08589	0.645000	0.84053	ACA		PASS	0.672	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		6	73	6	73	---	---	---	---
PRPF31	26121	broad.mit.edu	37	19	54627995	54627995	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr19:54627995G>A	ENST00000321030.4	+	8	1164	c.815G>A	c.(814-816)gGc>gAc	p.G272D	PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Missense_Mutation_p.G272D|PRPF31_ENST00000419967.1_Missense_Mutation_p.G272D|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	272	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)	p.G272D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCCACACCGGCTACATCTAC	0.662																																						uc002qdh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)GGC>GAC		pre-mRNA processing factor 31 homolog							85.0	71.0	76.0					19																	54627995		2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54627995G>A	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.815G>A	19.37:g.54627995G>A	ENSP00000324122:p.Gly272Asp					PRPF31_uc010yek.1_Missense_Mutation_p.G272D	p.G272D	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			8	1211	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		272			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.815G>A	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130890	0.94473	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000391755	D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58	4.81	4.81	0.61882	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.045678	0.85682	D	0.000000	D	0.98485	0.9495	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99605	1.0979	10	0.87932	D	0	-39.367	17.5088	0.87754	0.0:0.0:1.0:0.0	.	272;272	E7ESA8;Q8WWY3	.;PRP31_HUMAN	D	272	ENSP00000324122:G272D;ENSP00000395894:G272D;ENSP00000405166:G272D;ENSP00000408980:G272D;ENSP00000375635:G272D	ENSP00000263436:G272D	G	+	2	0	PRPF31	59319807	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	8.734000	0.91543	2.601000	0.87937	0.561000	0.74099	GGC		PASS	0.662	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			3	46	3	46	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56481994	56481994	+	Silent	SNP	A	A	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr19:56481994A>C	ENST00000291971.3	+	6	2537	c.2466A>C	c.(2464-2466)atA>atC	p.I822I	NLRP8_ENST00000590542.1_Silent_p.I822I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	822					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.I822I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGACTCTCATACTAAGAAAAA	0.488																																						uc002qmh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2464-2466)ATA>ATC		NLR family, pyrin domain containing 8							141.0	146.0	144.0					19																	56481994		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56481994A>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2466A>C	19.37:g.56481994A>C						NLRP8_uc010etg.2_Silent_p.I822I	p.I822I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	6	2537	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	822			LRR 2.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.2466A>C	CCDS12937.1																																																																																				PASS	0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		30	301	30	301	---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1285887	1285887	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:1285887G>C	ENST00000381873.3	+	6	910	c.674G>C	c.(673-675)gGt>gCt	p.G225A	SNPH_ENST00000381867.1_Missense_Mutation_p.G269A	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	225					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.G225A(1)|p.G269A(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCTGTCTGTGGTGACCGCCAG	0.677																																						uc002wes.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(673-675)GGT>GCT		syntaphilin							21.0	23.0	22.0					20																	1285887		2202	4298	6500	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1285887G>C		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.674G>C	20.37:g.1285887G>C	ENSP00000371297:p.Gly225Ala					SNPH_uc002wet.2_Missense_Mutation_p.G269A	p.G225A	NM_014723	NP_055538	O15079	SNPH_HUMAN			6	910	+			225					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.674G>C	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	G	1.012	-0.687726	0.03328	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.6	4.6	0.57074	.	0.237976	0.34906	N	0.003585	T	0.31482	0.0798	N	0.24115	0.695	0.33907	D	0.639171	B;B	0.15930	0.015;0.015	B;B	0.23419	0.046;0.027	T	0.31998	-0.9923	9	0.02654	T	1	-17.4044	7.6773	0.28492	0.0886:0.1673:0.7441:0.0	.	269;225	O15079-2;O15079	.;SNPH_HUMAN	A	225;269	.	ENSP00000371291:G269A	G	+	2	0	SNPH	1233887	0.989000	0.36119	0.781000	0.31783	0.805000	0.45488	2.235000	0.43044	2.398000	0.81561	0.561000	0.74099	GGT		PASS	0.677	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		4	40	4	40	---	---	---	---
SLC4A11	83959	broad.mit.edu	37	20	3209565	3209565	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:3209565G>A	ENST00000380056.3	-	16	2206	c.2159C>T	c.(2158-2160)gCc>gTc	p.A720V	SLC4A11_ENST00000539553.2_Missense_Mutation_p.A704V|SLC4A11_ENST00000380059.3_Missense_Mutation_p.A747V|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	720	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.A720V(1)|p.A747V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGGGTAGGCGGCATGGATCCA	0.617																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2158-2160)GCC>GTC		solute carrier family 4 member 11							136.0	114.0	121.0					20																	3209565		2202	4300	6502	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209565G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2159C>T	20.37:g.3209565G>A	ENSP00000369396:p.Ala720Val					SLC4A11_uc010zqe.1_Missense_Mutation_p.A747V|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.A704V	p.A720V	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			16	2207	-			720			Helical; (Potential).|Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.2159C>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285463	0.95517	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	D;D;D	0.84442	-1.85;-1.85;-1.85	5.03	5.03	0.67393	Bicarbonate transporter, C-terminal (1);	0.054060	0.64402	D	0.000001	D	0.93106	0.7805	M	0.87381	2.88	0.80722	D	1	D;D;D	0.60575	0.984;0.988;0.988	P;D;D	0.66084	0.902;0.941;0.941	D	0.94186	0.7436	10	0.87932	D	0	.	18.7421	0.91777	0.0:0.0:1.0:0.0	.	704;747;720	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	V	747;720;704	ENSP00000369399:A747V;ENSP00000369396:A720V;ENSP00000441370:A704V	ENSP00000369396:A720V	A	-	2	0	SLC4A11	3157565	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	6.700000	0.74619	2.515000	0.84797	0.462000	0.41574	GCC		PASS	0.617	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			4	76	4	76	---	---	---	---
MGME1	92667	broad.mit.edu	37	20	17956459	17956459	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:17956459A>C	ENST00000377710.5	+	3	932	c.644A>C	c.(643-645)gAt>gCt	p.D215A	MGME1_ENST00000377704.4_Intron|MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377709.1_Missense_Mutation_p.D135A	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1									p.D215A(1)									ATTCTGAAAGATGTCAGTGGA	0.418																																						uc002wqh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)GAT>GCT		hypothetical protein LOC92667							119.0	116.0	117.0					20																	17956459		2203	4300	6503	SO:0001583	missense	92667							g.chr20:17956459A>C		CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"""chromosome 20 open reading frame 72"""	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.644A>C	20.37:g.17956459A>C	ENSP00000366939:p.Asp215Ala					C20orf72_uc010gco.2_Intron|C20orf72_uc010gcp.2_RNA	p.D215A	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN			3	726	+			215						Missense_Mutation	SNP	ENST00000377710.5	37	c.644A>C	CCDS13131.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659899	0.88154	.	.	ENSG00000125871	ENST00000377710;ENST00000377709	T;T	0.47869	0.83;0.87	5.49	5.49	0.81192	.	0.135665	0.64402	D	0.000004	T	0.64907	0.2641	M	0.73962	2.25	0.80722	D	1	D	0.63880	0.993	P	0.58620	0.842	T	0.68693	-0.5341	10	0.56958	D	0.05	-11.4227	15.5972	0.76595	1.0:0.0:0.0:0.0	.	215	Q9BQP7	CT072_HUMAN	A	215;135	ENSP00000366939:D215A;ENSP00000366938:D135A	ENSP00000366938:D135A	D	+	2	0	C20orf72	17904459	1.000000	0.71417	0.941000	0.38009	0.972000	0.66771	8.637000	0.91014	2.082000	0.62665	0.533000	0.62120	GAT		PASS	0.418	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078139.1	NM_052865		4	162	4	162	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23666549	23666549	+	Silent	SNP	G	G	C			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:23666549G>C	ENST00000217423.3	-	3	478	c.408C>G	c.(406-408)tcC>tcG	p.S136S		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	136					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S136S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CTTGACACCTGGAATTCACCA	0.577																																						uc002wto.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(406-408)TCC>TCG		cystatin S precursor							106.0	97.0	100.0					20																	23666549		2203	4300	6503	SO:0001819	synonymous_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23666549G>C		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.408C>G	20.37:g.23666549G>C							p.S136S	NM_001899	NP_001890	P01036	CYTS_HUMAN			3	464	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		136					Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	c.408C>G	CCDS13159.1																																																																																				PASS	0.577	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		4	93	4	93	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25656918	25656918	+	Missense_Mutation	SNP	C	C	G	rs200119232		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:25656918C>G	ENST00000376436.1	-	4	1545	c.1006G>C	c.(1006-1008)Gtt>Ctt	p.V336L	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V304L|ZNF337_ENST00000252979.5_Missense_Mutation_p.V336L|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V336L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTGCACAACGAAGTATGAC	0.483																																						uc002wva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1006-1008)GTT>CTT		zinc finger protein 337							84.0	77.0	80.0					20																	25656918		2203	4300	6503	SO:0001583	missense	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25656918C>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1006G>C	20.37:g.25656918C>G	ENSP00000365619:p.Val336Leu					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.V304L|ZNF337_uc002wvb.2_Missense_Mutation_p.V336L|ZNF337_uc002wvc.2_Missense_Mutation_p.V336L	p.V336L	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	1528	-			336			C2H2-type 6.		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1006G>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.109888	0.37242	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.17691	2.26;2.26;2.26	1.34	0.18	0.15068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08492	0.0211	N	0.17248	0.465	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.08055	0.003;0.003	T	0.32903	-0.9889	9	0.46703	T	0.11	.	2.1926	0.03903	0.0:0.2432:0.3204:0.4364	.	304;336	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	L	336;336;336;304	ENSP00000365619:V336L;ENSP00000252979:V336L;ENSP00000442181:V304L	ENSP00000252979:V336L	V	-	1	0	ZNF337	25604918	0.000000	0.05858	0.001000	0.08648	0.975000	0.68041	-2.561000	0.00921	0.030000	0.15379	0.306000	0.20318	GTT		PASS	0.483	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			5	174	5	174	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33345834	33345834	+	Silent	SNP	T	T	A	rs957277		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:33345834T>A	ENST00000374796.2	-	8	3287	c.717A>T	c.(715-717)ccA>ccT	p.P239P	NCOA6_ENST00000359003.2_Silent_p.P239P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	239	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.P239P(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGGGTGATGTGGGGGAGCTA	0.488																																						uc002xav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(715-717)CCA>CCT		nuclear receptor coactivator 6							64.0	67.0	66.0					20																	33345834		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345834T>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.717A>T	20.37:g.33345834T>A						NCOA6_uc002xaw.2_Silent_p.P239P|NCOA6_uc010gew.1_Silent_p.P196P	p.P239P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3288	-			239			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.717A>T	CCDS13241.1																																																																																				PASS	0.488	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	96	7	96	---	---	---	---
GGT7	2686	broad.mit.edu	37	20	33450711	33450711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:33450711C>A	ENST00000336431.5	-	3	507	c.463G>T	c.(463-465)Gag>Tag	p.E155*		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	155					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.E155K(1)|p.E155*(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CTGAGCACCTCGATGCCCAGT	0.617																																						uc002xay.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	ovary(1)	1						c.(463-465)GAG>TAG		gamma-glutamyltransferase 7							70.0	54.0	60.0					20																	33450711		2203	4300	6503	SO:0001587	stop_gained	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33450711C>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.463G>T	20.37:g.33450711C>A	ENSP00000338964:p.Glu155*					GGT7_uc002xaz.1_Nonsense_Mutation_p.E172*|GGT7_uc002xba.1_Nonsense_Mutation_p.E155*	p.E155*	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			3	506	-			155			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Nonsense_Mutation	SNP	ENST00000336431.5	37	c.463G>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	c	17.41	3.382788	0.61845	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	.	.	.	5.04	4.09	0.47781	.	0.129930	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.9841	10.4697	0.44629	0.0:0.792:0.134:0.0741	.	.	.	.	X	155;172	.	ENSP00000338964:E155X	E	-	1	0	GGT7	32914372	0.991000	0.36638	0.993000	0.49108	0.984000	0.73092	2.949000	0.49074	1.115000	0.41800	0.651000	0.88453	GAG		PASS	0.617	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		9	48	9	48	---	---	---	---
VSTM2L	128434	broad.mit.edu	37	20	36560111	36560111	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:36560111G>A	ENST00000373461.4	+	2	443	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	VSTM2L_ENST00000373458.3_Missense_Mutation_p.G66S|VSTM2L_ENST00000373459.4_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	66	Ig-like.							p.G66S(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				CTCCTTCCGCGGCAGCGGCTC	0.622																																						uc002xhk.3																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(196-198)GGC>AGC		V-set and transmembrane domain containing 2 like							114.0	102.0	106.0					20																	36560111		2203	4300	6503	SO:0001583	missense	128434							g.chr20:36560111G>A	AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"""Immunoglobulin superfamily / V-set domain containing"""	16096	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 102"""	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.196G>A	20.37:g.36560111G>A	ENSP00000362560:p.Gly66Ser						p.G66S	NM_080607	NP_542174	Q96N03	VTM2L_HUMAN			2	450	+		Myeloproliferative disorder(115;0.00878)	66			Ig-like.		E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	ENST00000373461.4	37	c.196G>A	CCDS13299.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309947	0.95629	.	.	ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944	T;T;T	0.79653	-1.29;1.32;-1.29	4.66	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050346	0.85682	D	0.000000	D	0.90810	0.7114	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92449	0.5968	10	0.66056	D	0.02	-29.6826	16.8866	0.86077	0.0:0.0:1.0:0.0	.	66	Q96N03	VTM2L_HUMAN	S	66	ENSP00000362557:G66S;ENSP00000362560:G66S;ENSP00000406537:G66S	ENSP00000362557:G66S	G	+	1	0	VSTM2L	35993525	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	9.643000	0.98464	2.294000	0.77228	0.484000	0.47621	GGC		PASS	0.622	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079133.1			30	178	30	178	---	---	---	---
CBLN4	140689	broad.mit.edu	37	20	54573676	54573676	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:54573676T>A	ENST00000064571.2	-	3	1843	c.543A>T	c.(541-543)aaA>aaT	p.K181N		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	181	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.K181N(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CCAAATTACCTTTCTCCAGTT	0.468																																						uc002xxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(541-543)AAA>AAT		cerebellin 4 precursor							120.0	109.0	113.0					20																	54573676		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54573676T>A	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.543A>T	20.37:g.54573676T>A	ENSP00000064571:p.Lys181Asn						p.K181N	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1328	-			181			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.543A>T	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861554	0.51482	.	.	ENSG00000054803	ENST00000064571	T	0.74632	-0.86	5.48	5.48	0.80851	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	N	0.05487	-0.04	0.80722	D	1	P	0.49862	0.929	P	0.54431	0.752	T	0.65360	-0.6187	10	0.16420	T	0.52	-11.616	15.5699	0.76326	0.0:0.0:0.0:1.0	.	181	Q9NTU7	CBLN4_HUMAN	N	181	ENSP00000064571:K181N	ENSP00000064571:K181N	K	-	3	2	CBLN4	54007083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.198000	0.32223	2.079000	0.62486	0.402000	0.26972	AAA		PASS	0.468	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		7	165	7	165	---	---	---	---
FAM210B	116151	broad.mit.edu	37	20	54941160	54941160	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr20:54941160C>T	ENST00000371384.3	+	3	487	c.396C>T	c.(394-396)ctC>ctT	p.L132L		NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B	132	DUF1279.					integral component of membrane (GO:0016021)		p.L132L(2)									TGCTGAAACTCGGATTTAAAG	0.453																																						uc002xxc.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(394-396)CTC>CTT		hypothetical protein LOC116151							72.0	69.0	70.0					20																	54941160		2203	4300	6503	SO:0001819	synonymous_variant	116151					integral to membrane		g.chr20:54941160C>T	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793	ENST00000371384.3:c.396C>T	20.37:g.54941160C>T							p.L132L	NM_080821	NP_543011	Q96KR6	CT108_HUMAN	Colorectal(105;0.202)		3	475	+			132			DUF1279.		B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Silent	SNP	ENST00000371384.3	37	c.396C>T	CCDS13450.1																																																																																				PASS	0.453	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		8	115	8	115	---	---	---	---
GAB4	128954	broad.mit.edu	37	22	17443716	17443716	+	Silent	SNP	C	C	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr22:17443716C>T	ENST00000400588.1	-	10	1739	c.1632G>A	c.(1630-1632)gtG>gtA	p.V544V		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	544								p.V544V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTCCAGATCCACCTGGACAT	0.607																																						uc002zlw.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1630-1632)GTG>GTA		GRB2-associated binding protein family, member							55.0	57.0	56.0					22																	17443716		2201	4300	6501	SO:0001819	synonymous_variant	128954							g.chr22:17443716C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1632G>A	22.37:g.17443716C>T							p.V544V	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			10	1740	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	544						Silent	SNP	ENST00000400588.1	37	c.1632G>A	CCDS42976.1																																																																																				PASS	0.607	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		7	95	7	95	---	---	---	---
CRYBB1	1414	broad.mit.edu	37	22	26997948	26997948	+	Missense_Mutation	SNP	G	G	T	rs35636247		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr22:26997948G>T	ENST00000215939.2	-	5	600	c.470C>A	c.(469-471)gCc>gAc	p.A157D		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	157	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.A157D(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CTTGAAGTTGGCCCCTTCAAA	0.557																																						uc003acy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)GCC>GAC		crystallin, beta B1							104.0	77.0	86.0					22																	26997948		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:26997948G>T		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.470C>A	22.37:g.26997948G>T	ENSP00000215939:p.Ala157Asp						p.A157D	NM_001887	NP_001878	P53674	CRBB1_HUMAN			5	540	-			157			Beta/gamma crystallin 'Greek key' 3.			Missense_Mutation	SNP	ENST00000215939.2	37	c.470C>A	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328541	0.41197	.	.	ENSG00000100122	ENST00000215939	T	0.76316	-1.01	4.7	3.65	0.41850	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.479254	0.22643	N	0.057427	T	0.75925	0.3916	L	0.31804	0.96	0.46499	D	0.999072	P	0.46912	0.886	P	0.56700	0.804	T	0.69514	-0.5125	10	0.15066	T	0.55	.	13.2008	0.59767	0.0:0.0:0.8396:0.1604	.	157	P53674	CRBB1_HUMAN	D	157	ENSP00000215939:A157D	ENSP00000215939:A157D	A	-	2	0	CRYBB1	25327948	1.000000	0.71417	0.990000	0.47175	0.504000	0.33889	5.844000	0.69430	1.131000	0.42111	0.655000	0.94253	GCC		PASS	0.557	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		21	111	21	111	---	---	---	---
CARD10	29775	broad.mit.edu	37	22	37888691	37888691	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr22:37888691G>T	ENST00000403299.1	-	18	2811	c.2595C>A	c.(2593-2595)gaC>gaA	p.D865E	CARD10_ENST00000406271.3_Missense_Mutation_p.D579E|CARD10_ENST00000251973.5_Missense_Mutation_p.D865E			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	865					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)	p.D865E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCTGGGCAGGTCTAGCAGGT	0.687																																						uc003asx.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(2593-2595)GAC>GAA		caspase recruitment domain protein 10							27.0	27.0	27.0					22																	37888691		2201	4296	6497	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37888691G>T	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2595C>A	22.37:g.37888691G>T	ENSP00000384570:p.Asp865Glu					CARD10_uc003ast.1_RNA|CARD10_uc003asu.1_5'Flank|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.D183E|CARD10_uc003asw.1_Missense_Mutation_p.D579E|CARD10_uc003asy.1_Missense_Mutation_p.D865E	p.D865E	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			17	2598	-	Melanoma(58;0.0574)		865					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2595C>A	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612815	0.46631	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973	T;T;T	0.40225	1.04;2.74;1.04	4.81	3.79	0.43588	.	0.207947	0.42548	D	0.000698	T	0.29321	0.0730	L	0.35414	1.06	0.30738	N	0.746538	P;B	0.39665	0.682;0.061	B;B	0.35182	0.197;0.031	T	0.34304	-0.9834	10	0.59425	D	0.04	-19.6858	9.6815	0.40072	0.0978:0.0:0.9022:0.0	.	865;579	Q9BWT7;Q8NC81	CAR10_HUMAN;.	E	865;579;865	ENSP00000384570:D865E;ENSP00000385799:D579E;ENSP00000251973:D865E	ENSP00000251973:D865E	D	-	3	2	CARD10	36218637	1.000000	0.71417	0.992000	0.48379	0.853000	0.48598	1.907000	0.39897	1.236000	0.43740	0.655000	0.94253	GAC		PASS	0.687	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		4	32	4	32	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38122102	38122102	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr22:38122102A>G	ENST00000406386.3	+	7	3794	c.3539A>G	c.(3538-3540)cAg>cGg	p.Q1180R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1180					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.Q1180R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACCACGCCAGGCTCCTGAG	0.622																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3538-3540)CAG>CGG		TRIO and F-actin binding protein isoform 6							72.0	81.0	78.0					22																	38122102		1999	4158	6157	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38122102A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3539A>G	22.37:g.38122102A>G	ENSP00000384312:p.Gln1180Arg					TRIOBP_uc003atu.2_Missense_Mutation_p.Q1008R|TRIOBP_uc003atq.1_Missense_Mutation_p.Q1180R|TRIOBP_uc003ats.1_Missense_Mutation_p.Q1008R	p.Q1180R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3810	+	Melanoma(58;0.0574)		1180					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.3539A>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931136	0.73327	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.23950	1.88	5.38	5.38	0.77491	.	.	.	.	.	T	0.29458	0.0734	L	0.27053	0.805	0.80722	D	1	D	0.55172	0.97	P	0.54346	0.749	T	0.03268	-1.1054	9	0.54805	T	0.06	.	11.8217	0.52242	1.0:0.0:0.0:0.0	.	1180	Q9H2D6	TARA_HUMAN	R	1180	ENSP00000384312:Q1180R	ENSP00000384312:Q1180R	Q	+	2	0	TRIOBP	36452048	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.933000	0.48948	2.046000	0.60703	0.369000	0.22263	CAG		PASS	0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			15	141	15	141	---	---	---	---
GTPBP1	9567	broad.mit.edu	37	22	39122020	39122020	+	Silent	SNP	G	G	T	rs146011021		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr22:39122020G>T	ENST00000216044.5	+	7	1316	c.1083G>T	c.(1081-1083)ccG>ccT	p.P361P	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	361	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.P361P(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGATGTGCCCGATATTCCAGA	0.572																																						uc003awg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1081-1083)CCG>CCT		GTP binding protein 1							140.0	141.0	141.0					22																	39122020		2203	4300	6503	SO:0001819	synonymous_variant	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39122020G>T	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1083G>T	22.37:g.39122020G>T							p.P361P	NM_004286	NP_004277	O00178	GTPB1_HUMAN			7	1237	+	Melanoma(58;0.04)		361					Q6IC67	Silent	SNP	ENST00000216044.5	37	c.1083G>T	CCDS13977.2																																																																																				PASS	0.572	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		27	250	27	250	---	---	---	---
PNPLA5	150379	broad.mit.edu	37	22	44285398	44285398	+	Silent	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr22:44285398C>A	ENST00000597664.1	-	4	642	c.513G>T	c.(511-513)ctG>ctT	p.L171L	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000216177.4_Silent_p.L171L|PNPLA5_ENST00000381198.2_Intron			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	171	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.L171L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGTTGTTGCTCAGAGCCCCAT	0.637																																						uc003beg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)CTG>CTT		patatin-like phospholipase domain containing 5							175.0	165.0	169.0					22																	44285398		2203	4300	6503	SO:0001819	synonymous_variant	150379				lipid catabolic process		hydrolase activity	g.chr22:44285398C>A	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.513G>T	22.37:g.44285398C>A						PNPLA5_uc011aqc.1_Intron|PNPLA5_uc003beh.2_Intron	p.L171L	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN			4	610	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	171			Patatin.		B1AHL8|B3KPR1|Q6ZST0	Silent	SNP	ENST00000597664.1	37	c.513G>T																																																																																					PASS	0.637	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		14	221	14	221	---	---	---	---
GSPT2	23708	broad.mit.edu	37	X	51487663	51487663	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chrX:51487663C>A	ENST00000340438.4	+	1	1183	c.941C>A	c.(940-942)gCc>gAc	p.A314D		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	314	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.A314D(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GTCATCTCTGCCAGGAAAGGA	0.428																																						uc004dpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(940-942)GCC>GAC		peptide chain release factor 3							150.0	144.0	146.0					X																	51487663		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487663C>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.941C>A	X.37:g.51487663C>A	ENSP00000341247:p.Ala314Asp						p.A314D	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			1	1167	+	Ovarian(276;0.236)		314					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.941C>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480713	0.63849	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.76839	-1.05	4.54	4.54	0.55810	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93808	0.8020	H	0.99914	4.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96002	0.8994	10	0.87932	D	0	-19.2247	14.1788	0.65559	0.0:1.0:0.0:0.0	.	314	Q8IYD1	ERF3B_HUMAN	D	314;231	ENSP00000341247:A314D	ENSP00000341247:A314D	A	+	2	0	GSPT2	51504403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.224000	0.78042	2.521000	0.84997	0.592000	0.82586	GCC		PASS	0.428	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			30	151	30	151	---	---	---	---
SPANXC	64663	broad.mit.edu	37	X	140336531	140336531	+	Missense_Mutation	SNP	C	C	A	rs145019855	byFrequency	TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chrX:140336531C>A	ENST00000358993.2	-	1	98	c.60G>T	c.(58-60)gaG>gaT	p.E20D		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	20						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E20D(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCTCATTCACCTCGTTGGATT	0.488																																						uc004fbk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GAG>GAT		sperm protein associated with the nucleus, X							81.0	115.0	103.0					X																	140336531		2160	4239	6399	SO:0001583	missense	64663					cytoplasm|nucleus		g.chrX:140336531C>A	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 3"""	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.60G>T	X.37:g.140336531C>A	ENSP00000351884:p.Glu20Asp					SPANXC_uc004fbl.2_Intron	p.E20D	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN			1	116	-	Acute lymphoblastic leukemia(192;7.65e-05)		20					Q32WL9|Q5JX88	Missense_Mutation	SNP	ENST00000358993.2	37	c.60G>T	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	c	4.214	0.038479	0.08148	.	.	ENSG00000198573	ENST00000358993	T	0.08370	3.1	.	.	.	.	.	.	.	.	T	0.17280	0.0415	M	0.63428	1.95	0.09310	N	1	D	0.63046	0.992	D	0.74348	0.983	T	0.10245	-1.0638	7	0.27785	T	0.31	.	.	.	.	.	20	Q9NY87	SPNXC_HUMAN	D	20	ENSP00000351884:E20D	ENSP00000351884:E20D	E	-	3	2	SPANXC	140164197	0.034000	0.19679	0.001000	0.08648	0.001000	0.01503	-1.482000	0.02320	-0.957000	0.03627	-0.938000	0.02693	GAG		PASS	0.488	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	NM_022661		19	139	19	139	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151336820	151336820	+	Silent	SNP	G	G	A			TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chrX:151336820G>A	ENST00000370314.4	-	10	1597	c.1359C>T	c.(1357-1359)agC>agT	p.S453S	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Silent_p.S453S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	453					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S453S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGTCAACCTTGCTGACACTGT	0.512																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1357-1359)AGC>AGT		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						266.0	207.0	227.0					X																	151336820		2203	4300	6503	SO:0001819	synonymous_variant	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336820G>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1359C>T	X.37:g.151336820G>A							p.S453S	NM_000808	NP_000799	P34903	GBRA3_HUMAN			10	1599	-	Acute lymphoblastic leukemia(192;6.56e-05)		453			Cytoplasmic (Probable).		Q8TAF9	Silent	SNP	ENST00000370314.4	37	c.1359C>T	CCDS14706.1																																																																																				PASS	0.512	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		24	132	24	132	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												uc003yyc.1																			3	Deletion - In frame(3)		upper_aerodigestive_tract(2)|breast(1)		0						c.(619-624)CACCAT>CAT		v-maf musculoaponeurotic fibrosarcoma oncogene																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)					p.207_208HH>H	NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	621_623	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207_208			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																					0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		4	3	4	3	---	---	---	---
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20806093	20806093	+	RNA	DEL	G	G	-	rs201435947		TCGA-60-2715-01A-01D-1522-08	TCGA-60-2715-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8e05a30d-2177-45e0-90fd-8c5961268c39	61fa546c-6900-471c-b579-b62fa1f697b7	g.chr17:20806093delG	ENST00000577537.1	+	0	1277				RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA																							CGACTCCCAAGGAACCACTAA	0.463																																						uc002gyg.1																			0													Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																																						0							g.chr17:20806093delG																													17.37:g.20806093delG						uc002gyh.1_RNA								4		+									RNA	DEL	ENST00000577537.1	37	c.1277delG																																																																																						0.463	RP11-344E13.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000444041.1			4	2	4	2	---	---	---	---
